CFTR — 5636 ClinVar variants
All ClinVar germline CFTR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2218 flagged for review →
751 Pathogenic · 226 Pathogenic/Likely pathogenic · 352 Likely pathogenic · 380 Conflicting · 69 Benign · 36 Benign/Likely benign · 1371 Likely benign · 2451 Uncertain significance
Full CFTR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2218
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 22
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CFTR p.Arg117His
Pathogenic
Practice guideline
cystic fibrosis
-
CFTR p.Ile1234Val
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Ile175Val
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Met152Val
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Ser589Asn
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Ser589Ile
Pathogenic/Likely pathogenic
Multiple submitters
cystic fibrosis
-
CFTR p.Thr501Ala
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Tyr1032Cys
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Ala107Gly
Likely pathogenic
Single submitter
cystic fibrosis
-
CFTR p.Glu403Asp
Likely pathogenic
Single submitter
cystic fibrosis
-
CFTR p.Glu822Lys
Likely pathogenic
Single submitter
cystic fibrosis
-
CFTR p.Gly1069Arg
Likely pathogenic
Single submitter
CFTR-related disorder
-
CFTR p.Gly1123Arg
Likely pathogenic
Single submitter
CFTR-related disorder
-
CFTR p.Ile853Thr
Likely pathogenic
Single submitter
cystic fibrosis
-
CFTR p.Leu973Phe
Pathogenic
Single submitter
Obstructive azoospermia
-
CFTR p.Asp648Val
Pathogenic
No assertion criteria
cystic fibrosis
-
CFTR p.Glu476Asp
Likely pathogenic
No assertion criteria
cystic fibrosis
-
CFTR p.Ile471Val
Likely pathogenic
No assertion criteria
cystic fibrosis
-
CFTR p.Lys483Glu
Likely pathogenic
No assertion criteria
cystic fibrosis
-
CFTR p.Lys503Arg
Likely pathogenic
No assertion criteria
cystic fibrosis
-
CFTR p.Ser492Cys
Likely pathogenic
No assertion criteria
cystic fibrosis
-
CFTR p.Tyr512His
Likely pathogenic
No assertion criteria
cystic fibrosis
Predictors agree, ClinVar conflicts 127
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CFTR p.Ala141Asp
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ala234Asp
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ala309Gly
Conflicting
Single submitter
hereditary chronic pancreatitis
-
CFTR p.Ala457Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ala561Val
Conflicting
Single submitter
hereditary chronic pancreatitis
-
CFTR p.Ala566Asp
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ala62Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ala747Val
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Arg1162Leu
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Arg1453Gln
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Arg1453Trp
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Arg242Lys
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Arg248Gly
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Arg258Gly
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Arg347Cys
Conflicting
Single submitter
hereditary chronic pancreatitis
-
CFTR p.Arg347Leu
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Arg516Gly
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Arg74Gln
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Arg74Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Arg851Leu
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asn1224Lys
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Asn417Lys
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asp110Tyr
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asp110Val
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asp1270Asn
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Asp1377His
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asp1445Asn
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Asp192Val
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asp529Gly
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Asp565Gly
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asp567Ala
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Asp979Ala
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Asp993Gly
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Asp993Tyr
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Cys524Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Cys524Tyr
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gln1291Arg
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Gln1352His
Conflicting
Single submitter
Respiratory ciliopathies including non-CF bronchiectasis
-
CFTR p.Gln237His
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Gln237Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gln493Leu
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gln552Lys
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Glu1044Gly
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Glu217Gly
Conflicting
Single submitter
Cystic fibrosis diagnostic test
-
CFTR p.Glu588Val
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Glu681Val
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gly1173Ser
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gly1208Asp
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gly1265Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gly1265Glu
Conflicting
Single submitter
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Gly178Glu
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Gly451Val
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gly463Asp
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Gly480Ser
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Gly500Asp
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Gly622Asp
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Gly85Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.His609Tyr
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.His897Tyr
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.His949Leu
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ile1027Thr
Conflicting
Single submitter
Cystic fibrosis diagnostic test
-
CFTR p.Ile1366Thr
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ile1398Ser
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ile148Thr
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ile285Phe
Conflicting
Single submitter
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Ile444Thr
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ile502Asn
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ile506Met
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ile506Ser
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ile506Thr
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ile506Val
Conflicting
Single submitter
hereditary chronic pancreatitis
-
CFTR p.Ile530Asn
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ile752Ser
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ile980Lys
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Leu129Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Leu137Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Leu15His
Conflicting
Single submitter
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Leu183Ile
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Leu320Val
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Leu365Pro
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Leu441Pro
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Leu541Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Leu594Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Leu610Phe
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Leu889Phe
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Lys1461Asn
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Lys163Met
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Met1028Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Met265Arg
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Phe575Tyr
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Phe587Ile
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Pro1013His
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Pro1021Ser
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Pro111Ala
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Pro1443Ser
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Pro205Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Pro205Leu
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Pro676Ala
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Pro676Ser
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Pro99Arg
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ser1235Arg
Conflicting
Single submitter
Cystic fibrosis diagnostic test
-
CFTR p.Ser1426Pro
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ser1456Asn
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ser422Phe
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ser466Leu
Conflicting
Single submitter
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Ser589Thr
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ser895Asn
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Ser902Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Ser977Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Thr1053Ile
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Thr1220Ile
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Thr1299Ile
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Thr1396Pro
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Thr438Ala
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Thr908Asn
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Thr908Ser
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Trp496Arg
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Tyr161Cys
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Val1153Glu
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Val1421Glu
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Val392Gly
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Val43Ala
Conflicting
Single submitter
cystic fibrosis
-
CFTR p.Val43Ile
Conflicting
Single submitter
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Val520Ile
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Val562Ile
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Val754Met
Conflicting
Single submitter
CFTR-related disorder
-
CFTR p.Val470Gly
Conflicting
No assertion criteria
cystic fibrosis
Predictors lean, ClinVar uncertain 1179
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1179
-
CFTR p.Ala349Val
Uncertain significance
Expert panel
cystic fibrosis
-
CFTR p.Arg31Leu
Uncertain significance
Expert panel
cystic fibrosis
-
CFTR p.Ser912Leu
Uncertain significance
Expert panel
cystic fibrosis
-
CFTR p.Tyr1014Cys
Uncertain significance
Expert panel
cystic fibrosis
-
CFTR p.Ala1009Thr
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Ala1025Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala1217Val
Uncertain significance
Multiple submitters
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Ala1225Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala1285Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala1319Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala1466Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala204Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala209Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala221Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala221Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala234Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala252Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala252Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala280Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala309Thr
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Ala357Thr
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
- CFTR p.Ala357Val Uncertain significance Multiple submitters
-
CFTR p.Ala412Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala534Glu
Uncertain significance
Multiple submitters
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Ala534Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala655Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala655Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala763Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala797Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala872Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala876Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1097His
Uncertain significance
Multiple submitters
nasal cavity polyp
-
CFTR p.Arg1128Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1162Gln
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Arg1259Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1283Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1422Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1422Trp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1438Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1438Trp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1446Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1479Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg21Ile
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg248Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg258Ile
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg31His
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
- CFTR p.Arg3Trp Uncertain significance Multiple submitters
-
CFTR p.Arg450Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg450Ile
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg518Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg553Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg751His
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg75Leu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg764Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg785Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg792Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn1184Ile
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn1303Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn1432Lys
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Asn287Lys
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Asn287Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn306Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn396Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn416Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn418Ser
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
CFTR p.Asn423Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn48His
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn538Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn71Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn782Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn801Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn801Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn847Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn894Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn894Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp112Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1201Tyr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1305Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1312Gly
Uncertain significance
Multiple submitters
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Asp1312Tyr
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Asp1370Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1370His
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1377Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1425Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1477Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp373Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp572Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp614Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp828Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp891Gly
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
CFTR p.Asp984Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Cys1344Ser
Uncertain significance
Multiple submitters
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Cys1355Phe
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Cys1395Phe
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Cys491Phe
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Cys491Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Cys592Tyr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Cys76Trp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1268Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1281Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1309Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1313Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1330Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1382Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1423Arg
Uncertain significance
Multiple submitters
Cystic fibrosis diagnostic test
-
CFTR p.Gln372Leu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln376Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln39His
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln39Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln637Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln715His
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln744Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln744Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln799Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln890Arg
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Glu1228Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu1417Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu1433Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu1473Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu279Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu407Lys
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Glu449Ala
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu449Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu449Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu479Asp
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Glu528Lys
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Glu60Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu672Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu692Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu823Asp
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Glu831Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1237Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1241Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1247Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1265Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1287Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1298Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1343Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly213Glu
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Gly228Cys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly239Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly241Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly241Trp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly253Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly424Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly437Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly673Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly817Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His1054Tyr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His1085Pro
Uncertain significance
Multiple submitters
cystic fibrosis
Predictors split 890
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 890
-
CFTR p.Arg334Trp
Pathogenic
Practice guideline
cystic fibrosis
-
CFTR p.Ala1006Glu
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Ala613Thr
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Arg334Leu
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Asp192Gly
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Asp924Asn
Uncertain significance
Expert panel
cystic fibrosis
-
CFTR p.Glu116Lys
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Gly194Arg
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.His1054Asp
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.His1375Pro
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.His139Arg
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.His609Arg
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Leu927Pro
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Met952Thr
Uncertain significance
Expert panel
cystic fibrosis
-
CFTR p.Phe191Val
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Ser1118Phe
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Ser341Pro
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Thr338Ile
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Trp1098Cys
Pathogenic
Expert panel
cystic fibrosis
-
CFTR p.Val201Met
Uncertain significance
Expert panel
cystic fibrosis
-
CFTR p.Ala1136Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala120Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala1256Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala1374Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala155Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala196Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala198Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala198Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala238Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala252Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ala399Val
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Ala46Val
Uncertain significance
Multiple submitters
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Ala561Thr
Uncertain significance
Multiple submitters
cystic fibrosis
- CFTR p.Ala566Thr Uncertain significance Multiple submitters
-
CFTR p.Ala959Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg1403Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg258Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg297Trp
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Arg347Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg553Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg709Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg751Cys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg792Gly
Uncertain significance
Multiple submitters
hereditary chronic pancreatitis
-
CFTR p.Arg810Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg811Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg851Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Arg933Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn1148Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn1303Ile
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Asn187Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn396Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn396Tyr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asn703Ile
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp110Glu
Pathogenic
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1154Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp1168Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp44Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp537Gly
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Asp565Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp58Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp614Asn
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Asp651Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp651His
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp674Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp828Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Asp924His
Uncertain significance
Multiple submitters
cystic fibrosis
- CFTR p.Cys343Arg Uncertain significance Multiple submitters
-
CFTR p.Cys76Ser
Uncertain significance
Multiple submitters
cystic fibrosis
- CFTR p.Cys832Gly Uncertain significance Multiple submitters
-
CFTR p.Cys866Tyr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1042Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1071Pro
Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Gln1100Pro
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Gln1238Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1330Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln1411Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln151Lys
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Gln179Lys
Uncertain significance
Multiple submitters
bronchiectasis with or without elevated sweat chloride 1
-
CFTR p.Gln2Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln372Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gln378Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu1172Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu1266Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu1401Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu257Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu282Asp
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Glu379Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu384Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu407Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu514Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu514Gly
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Glu588Gly
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu588Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu656Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu664Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu804Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Glu826Lys
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1125Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1127Glu
Uncertain significance
Multiple submitters
congenital bilateral aplasia of vas deferens from CFTR mutation
-
CFTR p.Gly1130Ala
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1223Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly126Ala
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly126Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1271Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly1349Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly213Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly314Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly404Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly406Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly542Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly723Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly921Glu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly921Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Gly934Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His1054Gln
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His1085Arg
Pathogenic/Likely pathogenic
Multiple submitters
cystic fibrosis
-
CFTR p.His1350Tyr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His139Leu
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.His139Pro
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His484Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His484Tyr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.His939Asp
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1005Arg
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Ile1051Val
Uncertain significance
Multiple submitters
CFTR-related disorder
-
CFTR p.Ile105Leu
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile106Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile106Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1117Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1119Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1131Val
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1230Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1269Met
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1315Met
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile1366Phe
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile177Phe
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile203Met
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile23Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile331Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile340Asn
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile444Met
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile448Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile482Met
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile506Leu
Pathogenic/Likely pathogenic
Multiple submitters
CFTR-related disorder
-
CFTR p.Ile521Met
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile807Thr
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile869Ser
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Ile918Phe
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Leu1034Arg
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Leu1034Phe
Uncertain significance
Multiple submitters
cystic fibrosis
-
CFTR p.Leu1279Ser
Uncertain significance
Multiple submitters
cystic fibrosis
All CFTR variants
Pathogenic 751
Showing the top 300 by review status; the full set is in the sitemap.
- c.1585-1G>A Practice guideline cystic fibrosis
- c.1766+1G>A Practice guideline cystic fibrosis
- c.2657+5G>A Practice guideline cystic fibrosis
- c.2988+1G>A Practice guideline cystic fibrosis
- c.3718-2477C>T Practice guideline cystic fibrosis
- c.489+1G>T Practice guideline cystic fibrosis
- c.579+1G>T Practice guideline cystic fibrosis
- p.Ala455Glu Practice guideline cystic fibrosis
- p.Arg1162Ter Practice guideline cystic fibrosis
- p.Arg117His Practice guideline cystic fibrosis ⚠
- p.Arg334Trp Practice guideline cystic fibrosis ⚠
- p.Arg347Pro Practice guideline cystic fibrosis
- p.Arg553Ter Practice guideline cystic fibrosis
- p.Arg560Thr Practice guideline cystic fibrosis
- p.Gly542Ter Practice guideline cystic fibrosis
- p.Gly551Asp Practice guideline cystic fibrosis
- p.Gly85Glu Practice guideline cystic fibrosis
- p.Ile507del Practice guideline cystic fibrosis
- p.Lys1177fs Practice guideline cystic fibrosis
- p.Trp1282Ter Practice guideline cystic fibrosis
- c.(?_1 Expert panel cystic fibrosis
- c.1116+1G>A Expert panel cystic fibrosis
- c.1117-1G>A Expert panel cystic fibrosis
- c.1209+1G>A Expert panel cystic fibrosis
- c.1210-2A>C Expert panel cystic fibrosis
- c.1211del Expert panel cystic fibrosis
- c.1393-1G>A Expert panel cystic fibrosis
- c.1393-2A>G Expert panel cystic fibrosis
- c.(1584+1_1585-1 Expert panel cystic fibrosis
- c.1584+1G>A Expert panel cystic fibrosis
- c.1585-8G>A Expert panel cystic fibrosis
- c.(164+1_165-1 Expert panel cystic fibrosis
- c.164+1G>A Expert panel cystic fibrosis
- c.164+1G>T Expert panel cystic fibrosis
- c.164+2T>C Expert panel cystic fibrosis
- c.164+4dup Expert panel cystic fibrosis
- c.1679+1G>A Expert panel cystic fibrosis
- c.1679+1G>C Expert panel cystic fibrosis
- c.1680-1G>A Expert panel cystic fibrosis
- c.1680-877G>T Expert panel cystic fibrosis
- c.1680-886A>G Expert panel cystic fibrosis
- c.1766+1G>C Expert panel cystic fibrosis
- c.1766+1G>T Expert panel cystic fibrosis
- c.1766+3A>G Expert panel cystic fibrosis
- c.1766+5G>T Expert panel cystic fibrosis
- c.1973_1985delinsAGAAA Expert panel cystic fibrosis
- c.2490+1G>A Expert panel cystic fibrosis
- c.2658-1G>C Expert panel cystic fibrosis
- c.(273+1_274-1 Expert panel cystic fibrosis
- c.273+1G>A Expert panel cystic fibrosis
- c.273+3A>C Expert panel cystic fibrosis
- c.274-1G>A Expert panel cystic fibrosis
- c.274-2A>G Expert panel cystic fibrosis
- c.2989-1G>A Expert panel cystic fibrosis
- c.2989-2A>G Expert panel cystic fibrosis
- c.2989-977_3367+248del Expert panel cystic fibrosis
- c.3139_3139+1del Expert panel cystic fibrosis
- c.3140-26A>G Expert panel cystic fibrosis
- c.(3367+1_3368-1 Expert panel cystic fibrosis
- c.3368-2A>G Expert panel cystic fibrosis
- c.3468+2dup Expert panel cystic fibrosis
- c.3468+5G>A Expert panel cystic fibrosis
- c.3717+40A>G Expert panel cystic fibrosis
- c.3717+4A>G Expert panel cystic fibrosis
- c.3717+5G>A Expert panel cystic fibrosis
- c.3718-1G>A Expert panel cystic fibrosis
- c.3718-3T>G Expert panel cystic fibrosis
- c.3873+1G>A Expert panel cystic fibrosis
- c.3873+2T>C Expert panel cystic fibrosis
- c.3964-78_4242+577del Expert panel cystic fibrosis
- c.4242+1G>A Expert panel cystic fibrosis
- c.4242+1G>T Expert panel cystic fibrosis
- c.53+1G>T Expert panel cystic fibrosis
- c.54-5842_489+401del Expert panel cystic fibrosis
- c.54-5940_273+10250del Expert panel cystic fibrosis
- c.579+3A>G Expert panel cystic fibrosis
- c.579+5G>A Expert panel cystic fibrosis
- c.580-1G>T Expert panel cystic fibrosis
- c.580-2A>G Expert panel cystic fibrosis
- c.723_743+1del Expert panel cystic fibrosis
- c.744-2A>G Expert panel cystic fibrosis
- p.Ala1004_Ala1006del Expert panel cystic fibrosis
- p.Ala1006Glu Expert panel cystic fibrosis ⚠
- p.Ala46Asp Expert panel cystic fibrosis
- p.Ala559Thr Expert panel cystic fibrosis
- p.Ala561Glu Expert panel cystic fibrosis
- p.Ala613Thr Expert panel cystic fibrosis ⚠
- p.Ala959fs Expert panel cystic fibrosis
- p.Arg104fs Expert panel cystic fibrosis
- p.Arg1066Cys Expert panel cystic fibrosis
- p.Arg1066His Expert panel cystic fibrosis
- p.Arg1102Ter Expert panel cystic fibrosis
- p.Arg1128Ter Expert panel cystic fibrosis
- p.Arg1158Ter Expert panel cystic fibrosis
- p.Arg117Pro Expert panel cystic fibrosis
- p.Arg1239= Expert panel cystic fibrosis
- p.Arg1283Met Expert panel cystic fibrosis
- p.Arg1301Ter Expert panel cystic fibrosis
- p.Arg334Leu Expert panel cystic fibrosis ⚠
- p.Arg347His Expert panel cystic fibrosis
- p.Arg560Lys Expert panel cystic fibrosis
- p.Arg59fs Expert panel cystic fibrosis
- p.Arg709Ter Expert panel cystic fibrosis
- p.Arg75Ter Expert panel cystic fibrosis
- p.Arg764Ter Expert panel cystic fibrosis
- p.Arg785Ter Expert panel cystic fibrosis
- p.Arg792Ter Expert panel cystic fibrosis
- p.Arg851Ter Expert panel cystic fibrosis
- p.Asn1303fs Expert panel cystic fibrosis
- p.Asn268fs Expert panel cystic fibrosis
- p.Asn287fs Expert panel cystic fibrosis
- p.Asn386fs Expert panel cystic fibrosis
- p.Asp1201fs Expert panel cystic fibrosis
- p.Asp1202fs Expert panel cystic fibrosis
- p.Asp192Gly Expert panel cystic fibrosis ⚠
- p.Asp443_Ile444insTer Expert panel cystic fibrosis
- p.Asp513Gly Expert panel cystic fibrosis
- p.Asp565fs Expert panel cystic fibrosis
- p.Asp58fs Expert panel cystic fibrosis
- p.Asp648fs Expert panel cystic fibrosis
- p.Asp835Ter Expert panel cystic fibrosis
- p.Asp979Val Expert panel cystic fibrosis
- p.Cys524Ter Expert panel cystic fibrosis
- p.Gln1035Ter Expert panel cystic fibrosis
- p.Gln1042Ter Expert panel cystic fibrosis
- p.Gln1313Ter Expert panel cystic fibrosis
- p.Gln1330Ter Expert panel cystic fibrosis
- p.Gln1382Ter Expert panel cystic fibrosis
- p.Gln1411Ter Expert panel cystic fibrosis
- p.Gln1412Ter Expert panel cystic fibrosis
- p.Gln220Ter Expert panel cystic fibrosis
- p.Gln2Ter Expert panel cystic fibrosis
- p.Gln30Ter Expert panel cystic fibrosis
- p.Gln378fs Expert panel cystic fibrosis
- p.Gln39Ter Expert panel cystic fibrosis
- p.Gln414Ter Expert panel cystic fibrosis
- p.Gln493Ter Expert panel cystic fibrosis
- p.Gln525Ter Expert panel cystic fibrosis
- p.Gln637fs Expert panel cystic fibrosis
- p.Gln685fs Expert panel cystic fibrosis
- p.Gln685Ter Expert panel cystic fibrosis
- p.Gln715Ter Expert panel cystic fibrosis
- p.Gln720Ter Expert panel cystic fibrosis
- p.Gln890Ter Expert panel cystic fibrosis
- p.Gln98Arg Expert panel cystic fibrosis
- p.Gln98Ter Expert panel cystic fibrosis
- p.Gln996= Expert panel cystic fibrosis
- p.Glu1104Ter Expert panel cystic fibrosis
- p.Glu116Lys Expert panel cystic fibrosis ⚠
- p.Glu1371Ter Expert panel cystic fibrosis
- p.Glu193Ter Expert panel cystic fibrosis
- p.Glu379Ter Expert panel cystic fibrosis
- p.Glu474Lys Expert panel cystic fibrosis
- p.Glu56fs Expert panel cystic fibrosis
- p.Glu585Ter Expert panel cystic fibrosis
- p.Glu60Lys Expert panel cystic fibrosis
- p.Glu60Ter Expert panel cystic fibrosis
- p.Glu656Ter Expert panel cystic fibrosis
- p.Glu664Ter Expert panel cystic fibrosis
- p.Glu726Argfs Expert panel cystic fibrosis
- p.Glu822Ter Expert panel cystic fibrosis
- p.Glu831Ter Expert panel cystic fibrosis
- p.Glu92Lys Expert panel cystic fibrosis
- p.Glu92Ter Expert panel cystic fibrosis
- p.Gly1249Arg Expert panel cystic fibrosis
- p.Gly126Asp Expert panel cystic fibrosis
- p.Gly1298fs Expert panel cystic fibrosis
- p.Gly194Arg Expert panel cystic fibrosis ⚠
- p.Gly239_Leu240insTer Expert panel cystic fibrosis
- p.Gly27Arg Expert panel cystic fibrosis
- p.Gly27Ter Expert panel cystic fibrosis
- p.Gly330fs Expert panel cystic fibrosis
- p.Gly330Ter Expert panel cystic fibrosis
- p.Gly458fs Expert panel cystic fibrosis
- p.Gly473fs Expert panel cystic fibrosis
- p.Gly550Ter Expert panel cystic fibrosis
- p.Gly628Arg Expert panel cystic fibrosis
- p.Gly673Ter Expert panel cystic fibrosis
- p.Gly745Ter Expert panel cystic fibrosis
- p.Gly91Arg Expert panel cystic fibrosis
- p.Gly970Arg Expert panel cystic fibrosis
- p.Gly970Asp Expert panel cystic fibrosis
- p.His1054Asp Expert panel cystic fibrosis ⚠
- p.His1375Pro Expert panel cystic fibrosis ⚠
- p.His139Arg Expert panel cystic fibrosis ⚠
- p.His199Tyr Expert panel cystic fibrosis
- p.His609Arg Expert panel cystic fibrosis ⚠
- p.Ile1023_Val1024del Expert panel cystic fibrosis
- p.Ile105fs Expert panel cystic fibrosis
- p.Ile1234Val Expert panel cystic fibrosis ⚠
- p.Ile1269Asn Expert panel cystic fibrosis
- p.Ile1366Asn Expert panel cystic fibrosis
- p.Ile1383fs Expert panel cystic fibrosis
- p.Ile177fs Expert panel cystic fibrosis
- p.Ile336fs Expert panel cystic fibrosis
- p.Ile336Lys Expert panel cystic fibrosis
- p.Ile444fs Expert panel cystic fibrosis
- p.Ile502Thr Expert panel cystic fibrosis
- p.Ile601Phe Expert panel cystic fibrosis
- p.Ile864fs Expert panel cystic fibrosis
- p.Leu102Arg Expert panel cystic fibrosis
- p.Leu1065Pro Expert panel cystic fibrosis
- p.Leu1077Pro Expert panel cystic fibrosis
- p.Leu1156= Expert panel cystic fibrosis
- p.Leu1254Ter Expert panel cystic fibrosis
- p.Leu1258fs Expert panel cystic fibrosis
- p.Leu1324Pro Expert panel cystic fibrosis
- p.Leu1335Pro Expert panel cystic fibrosis
- p.Leu1376fs Expert panel cystic fibrosis
- p.Leu138dup Expert panel cystic fibrosis
- p.Leu1399_Cys1400insTer Expert panel cystic fibrosis
- p.Leu15Pro Expert panel cystic fibrosis
- p.Leu165Ser Expert panel cystic fibrosis
- p.Leu183fs Expert panel cystic fibrosis
- p.Leu218Ter Expert panel cystic fibrosis
- p.Leu227Arg Expert panel cystic fibrosis
- p.Leu346Pro Expert panel cystic fibrosis
- p.Leu453Ser Expert panel cystic fibrosis
- p.Leu467Pro Expert panel cystic fibrosis
- p.Leu558Ser Expert panel cystic fibrosis
- p.Leu568fs Expert panel cystic fibrosis
- p.Leu732Ter Expert panel cystic fibrosis
- p.Leu818fs Expert panel cystic fibrosis
- p.Leu88Ter Expert panel cystic fibrosis
- p.Leu927Pro Expert panel cystic fibrosis ⚠
- p.Leu941fs Expert panel cystic fibrosis
- p.Leu953fs Expert panel cystic fibrosis
- p.Lys1250fs Expert panel cystic fibrosis
- p.Lys1363Ter Expert panel cystic fibrosis
- p.Lys254fs Expert panel cystic fibrosis
- p.Lys447fs Expert panel cystic fibrosis
- p.Lys598fs Expert panel cystic fibrosis
- p.Lys684fs Expert panel cystic fibrosis
- p.Lys710Ter Expert panel cystic fibrosis
- p.Met1101Arg Expert panel cystic fibrosis
- p.Met1101Lys Expert panel cystic fibrosis
- p.Met156_Phe157insTer Expert panel cystic fibrosis
- p.Met1fs Expert panel cystic fibrosis
- p.Met1Val Expert panel cystic fibrosis
- p.Met284fs Expert panel cystic fibrosis
- p.Met607_Gln634del Expert panel cystic fibrosis
- p.Phe143fs Expert panel cystic fibrosis
- p.Phe191Val Expert panel cystic fibrosis ⚠
- p.Phe316fs Expert panel cystic fibrosis
- p.Phe342_Cys343insTer Expert panel cystic fibrosis
- p.Phe342fs Expert panel cystic fibrosis
- p.Phe861fs Expert panel cystic fibrosis
- p.Pro205Ser Expert panel cystic fibrosis
- p.Pro574His Expert panel cystic fibrosis
- p.Pro99Leu Expert panel cystic fibrosis
- p.Ser1118Phe Expert panel cystic fibrosis ⚠
- p.Ser1159Phe Expert panel cystic fibrosis
- p.Ser1159Pro Expert panel cystic fibrosis
- p.Ser1196Ter Expert panel cystic fibrosis
- p.Ser1231fs Expert panel cystic fibrosis
- p.Ser1255Ter Expert panel cystic fibrosis
- p.Ser13Phe Expert panel cystic fibrosis
- p.Ser1435fs Expert panel cystic fibrosis
- p.Ser341Pro Expert panel cystic fibrosis ⚠
- p.Ser434fs Expert panel cystic fibrosis
- p.Ser434Ter Expert panel cystic fibrosis
- p.Ser466Ter Expert panel cystic fibrosis
- p.Ser466Ter Expert panel cystic fibrosis
- p.Ser489Ter Expert panel cystic fibrosis
- p.Ser492Phe Expert panel cystic fibrosis
- p.Ser4Ter Expert panel cystic fibrosis
- p.Ser549Arg Expert panel cystic fibrosis
- p.Ser557fs Expert panel cystic fibrosis
- p.Ser641fs Expert panel cystic fibrosis
- p.Ser670_Leu671insTer Expert panel cystic fibrosis
- p.Ser809fs Expert panel cystic fibrosis
- p.Ser821fs Expert panel cystic fibrosis
- p.Ser912Ter Expert panel cystic fibrosis
- p.Thr1036Asn Expert panel cystic fibrosis
- p.Thr1179fs Expert panel cystic fibrosis
- p.Thr1220fs Expert panel cystic fibrosis
- p.Thr338Ile Expert panel cystic fibrosis ⚠
- p.Thr663fs Expert panel cystic fibrosis
- p.Thr966fs Expert panel cystic fibrosis
- p.Trp1089Ter Expert panel cystic fibrosis
- p.Trp1098Arg Expert panel cystic fibrosis
- p.Trp1098Cys Expert panel cystic fibrosis ⚠
- p.Trp1098Ter Expert panel cystic fibrosis
- p.Trp1204Ter Expert panel cystic fibrosis
- p.Trp1274Ter Expert panel cystic fibrosis
- p.Trp401Ter Expert panel cystic fibrosis
- p.Trp496Ter Expert panel cystic fibrosis
- p.Trp57Gly Expert panel cystic fibrosis
- p.Trp57Ter Expert panel cystic fibrosis
- p.Trp79fs Expert panel cystic fibrosis
- p.Trp846Ter Expert panel cystic fibrosis
- p.Trp882Ter Expert panel cystic fibrosis
- p.Tyr1014fs Expert panel cystic fibrosis
- p.Tyr1014fs Expert panel cystic fibrosis
- p.Tyr1073fs Expert panel cystic fibrosis
- p.Tyr109fs Expert panel cystic fibrosis
- p.Tyr122Ter Expert panel cystic fibrosis
- p.Tyr161Asp Expert panel cystic fibrosis
- p.Tyr275Ter Expert panel cystic fibrosis
- p.Tyr515_Arg516delinsTer Expert panel cystic fibrosis
Pathogenic/Likely pathogenic 226
- c.1116+2T>C Multiple submitters cystic fibrosis
- c.1209+1G>T Multiple submitters CFTR-related disorder
- c.1210-12T[5] Multiple submitters CFTR-related disorder
- c.1210-1G>C Multiple submitters CFTR-related disorder
- c.1210-2_1210-1del Multiple submitters cystic fibrosis
- c.1392+1G>A Multiple submitters CFTR-related disorder
- c.1584+1G>T Multiple submitters CFTR-related disorder
- c.1584+2T>C Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.1585-2A>G Multiple submitters cystic fibrosis
- c.1585-2A>T Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.1585-9412A>G Multiple submitters cystic fibrosis
- c.164+2dup Multiple submitters cystic fibrosis
- c.1680-883A>G Multiple submitters CFTR-related disorder
- c.1766+2T>A Multiple submitters cystic fibrosis
- c.1766+5G>A Multiple submitters CFTR-related disorder
- c.1767-2A>G Multiple submitters CFTR-related disorder
- c.2490+1G>C Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.2491-2A>G Multiple submitters CFTR-related disorder
- c.2619+1G>A Multiple submitters cystic fibrosis
- c.2620-2A>G Multiple submitters cystic fibrosis
- c.2658-2A>G Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.274-1G>C Multiple submitters CFTR-related disorder
- c.274-2A>C Multiple submitters cystic fibrosis
- c.274-5_274-2del Multiple submitters cystic fibrosis
- c.2805_2810delinsTCAGA Multiple submitters CFTR-related disorder
- c.2908+1G>A Multiple submitters cystic fibrosis
- c.2909_2924dupGTGGGATTCTTAATAG Multiple submitters CFTR-related disorder
- c.2982_2988+2del Multiple submitters CFTR-related disorder
- c.2988+1G>T Multiple submitters CFTR-related disorder
- c.3139+1del Multiple submitters CFTR-related disorder
- c.3140-1G>A Multiple submitters CFTR-related disorder
- c.3367+1G>A Multiple submitters cystic fibrosis
- c.3368-1G>A Multiple submitters cystic fibrosis
- c.3368-2A>T Multiple submitters CFTR-related disorder
- c.3469-2A>C Multiple submitters CFTR-related disorder
- c.3469-2A>G Multiple submitters CFTR-related disorder
- c.3717+1G>A Multiple submitters cystic fibrosis
- c.3718-1G>C Multiple submitters cystic fibrosis
- c.3873+1G>T Multiple submitters cystic fibrosis
- c.3874-1G>A Multiple submitters CFTR-related disorder
- c.3964-3C>G Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.3965_3969dup Multiple submitters CFTR-related disorder
- c.4136+1G>A Multiple submitters cystic fibrosis
- c.4242+2T>C Multiple submitters CFTR-related disorder
- c.489+2T>C Multiple submitters CFTR-related disorder
- c.490-1G>A Multiple submitters CFTR-related disorder
- c.53+1G>C Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.53+2T>C Multiple submitters cystic fibrosis
- c.54-1G>A Multiple submitters cystic fibrosis
- c.580-1G>C Multiple submitters cystic fibrosis
- c.580-2A>C Multiple submitters cystic fibrosis
- c.743+1G>C Multiple submitters CFTR-related disorder
- c.869+1G>C Multiple submitters hereditary chronic pancreatitis
- c.869+3A>T Multiple submitters cystic fibrosis
- c.870-1113_870-1110del Multiple submitters CFTR-related disorder
- c.870-2A>G Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Ala1004fs Multiple submitters CFTR-related disorder
- p.Ala1006fs Multiple submitters cystic fibrosis
- p.Ala1136fs Multiple submitters CFTR-related disorder
- p.Ala559Pro Multiple submitters cystic fibrosis
- p.Ala9fs Multiple submitters cystic fibrosis
- p.Arg1066Leu Multiple submitters cystic fibrosis
- p.Arg117Gly Multiple submitters CFTR-related disorder
- p.Arg1325fs Multiple submitters cystic fibrosis
- p.Arg170fs Multiple submitters cystic fibrosis
- p.Arg248fs Multiple submitters CFTR-related disorder
- p.Arg258fs Multiple submitters cystic fibrosis
- p.Arg3fs Multiple submitters cystic fibrosis
- p.Arg450fs Multiple submitters cystic fibrosis
- p.Arg657Ter Multiple submitters cystic fibrosis
- p.Arg735fs Multiple submitters cystic fibrosis
- p.Asn1303Ile Multiple submitters CFTR-related disorder ⚠
- p.Asn635fs Multiple submitters cystic fibrosis
- p.Asp443fs Multiple submitters cystic fibrosis
- p.Asp614Gly Multiple submitters CFTR-related disorder
- p.Asp891fs Multiple submitters CFTR-related disorder
- p.Cys1400_Glu1401delinsTer Multiple submitters CFTR-related disorder
- p.Cys1410Ter Multiple submitters cystic fibrosis
- p.Cys491fs Multiple submitters cystic fibrosis
- p.Gln1100Pro Multiple submitters CFTR-related disorder ⚠
- p.Gln1186Ter Multiple submitters CFTR-related disorder
- p.Gln1238Ter Multiple submitters CFTR-related disorder
- p.Gln1291His Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Gln1352Ter Multiple submitters CFTR-related disorder
- p.Gln1439Ter Multiple submitters cystic fibrosis
- p.Gln1476Ter Multiple submitters CFTR-related disorder
- p.Gln179Ter Multiple submitters CFTR-related disorder
- p.Gln207Ter Multiple submitters CFTR-related disorder
- p.Gln237Glu Multiple submitters CFTR-related disorder
- p.Gln237Ter Multiple submitters CFTR-related disorder
- p.Gln250Ter Multiple submitters CFTR-related disorder
- p.Gln290Ter Multiple submitters CFTR-related disorder
- p.Gln372Ter Multiple submitters cystic fibrosis
- p.Gln378Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Gln414fs Multiple submitters hereditary chronic pancreatitis
- p.Gln525fs Multiple submitters CFTR-related disorder
- p.Gln689Ter Multiple submitters cystic fibrosis
- p.Gln767fs Multiple submitters cystic fibrosis
- p.Gln767Ter Multiple submitters CFTR-related disorder
- p.Gln781fs Multiple submitters cystic fibrosis
- p.Gln799fs Multiple submitters CFTR-related disorder
- p.Gln958Ter Multiple submitters cystic fibrosis
- p.Glu1266Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Glu1401Ter Multiple submitters CFTR-related disorder
- p.Glu1433Ter Multiple submitters cystic fibrosis
- p.Glu1470Ter Multiple submitters cystic fibrosis
- p.Glu1473Ter Multiple submitters CFTR-related disorder
- p.Glu282Ter Multiple submitters CFTR-related disorder
- p.Glu292fs Multiple submitters cystic fibrosis
- p.Glu292Ter Multiple submitters cystic fibrosis
- p.Glu402Ter Multiple submitters cystic fibrosis
- p.Glu403= Multiple submitters cystic fibrosis
- p.Glu407Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Glu474Ter Multiple submitters cystic fibrosis
- p.Glu514Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Glu823Ter Multiple submitters cystic fibrosis
- p.Glu827fs Multiple submitters cystic fibrosis
- p.Glu92fs Multiple submitters cystic fibrosis
- p.Gly103fs Multiple submitters CFTR-related disorder
- p.Gly1061Arg Multiple submitters cystic fibrosis
- p.Gly1208fs Multiple submitters CFTR-related disorder
- p.Gly1208fs Multiple submitters cystic fibrosis
- p.Gly1249fs Multiple submitters CFTR-related disorder
- p.Gly1249Glu Multiple submitters CFTR-related disorder
- p.Gly1287Ter Multiple submitters cystic fibrosis
- p.Gly178fs Multiple submitters cystic fibrosis
- p.Gly194Ter Multiple submitters CFTR-related disorder
- p.Gly480Asp Multiple submitters CFTR-related disorder
- p.Gly480Cys Multiple submitters CFTR-related disorder
- p.Gly628Ala Multiple submitters cystic fibrosis
- p.Gly780fs Multiple submitters cystic fibrosis
- p.Gly85Ter Multiple submitters cystic fibrosis
- p.His1085Arg Multiple submitters cystic fibrosis ⚠
- p.His139Leu Multiple submitters CFTR-related disorder ⚠
- p.Ile1005Arg Multiple submitters CFTR-related disorder ⚠
- p.Ile1023Arg Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Ile105Asn Multiple submitters CFTR-related disorder
- p.Ile119fs Multiple submitters CFTR-related disorder
- p.Ile1315fs Multiple submitters cystic fibrosis
- p.Ile175Val Multiple submitters CFTR-related disorder ⚠
- p.Ile506Leu Multiple submitters CFTR-related disorder ⚠
- p.Ile618Thr Multiple submitters CFTR-related disorder
- p.Leu1065Arg Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Leu1065fs Multiple submitters cystic fibrosis
- p.Leu1077fs Multiple submitters CFTR-related disorder
- p.Leu1346fs Multiple submitters CFTR-related disorder
- p.Leu259_Val260insTer Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Leu34_Gln39del Multiple submitters CFTR-related disorder
- p.Leu375Phe Multiple submitters CFTR-related disorder
- p.Leu475fs Multiple submitters cystic fibrosis
- p.Leu53fs Multiple submitters CFTR-related disorder
- p.Leu570fs Multiple submitters CFTR-related disorder
- p.Leu571Ser Multiple submitters CFTR-related disorder
- p.Leu73fs Multiple submitters CFTR-related disorder
- p.Leu983fs Multiple submitters cystic fibrosis
- p.Leu986fs Multiple submitters cystic fibrosis
- p.Lys1459fs Multiple submitters cystic fibrosis
- p.Lys14fs Multiple submitters CFTR-related disorder
- p.Lys162fs Multiple submitters cystic fibrosis
- p.Lys162Glu Multiple submitters CFTR-related disorder ⚠
- p.Lys163fs Multiple submitters CFTR-related disorder
- p.Lys166fs Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Lys283_Met284insTer Multiple submitters cystic fibrosis
- p.Lys298Ter Multiple submitters CFTR-related disorder
- p.Lys381Ter Multiple submitters cystic fibrosis
- p.Lys464Asn Multiple submitters CFTR-related disorder
- p.Met1137Arg Multiple submitters CFTR-related disorder ⚠
- p.Met152Val Multiple submitters CFTR-related disorder ⚠
- p.Met1Arg Multiple submitters cystic fibrosis
- p.Met469Val Multiple submitters CFTR-related disorder
- p.Phe1074Leu Multiple submitters CFTR-related disorder
- p.Phe1078fs Multiple submitters cystic fibrosis
- p.Phe17fs Multiple submitters cystic fibrosis
- p.Phe311fs Multiple submitters cystic fibrosis
- p.Phe312del Multiple submitters CFTR-related disorder
- p.Phe78fs Multiple submitters CFTR-related disorder
- p.Pro1021Leu Multiple submitters CFTR-related disorder ⚠
- p.Pro111fs Multiple submitters cystic fibrosis
- p.Pro1181_Tyr1182insTer Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Pro205Thr Multiple submitters cystic fibrosis
- p.Pro5Leu Multiple submitters cystic fibrosis ⚠
- p.Ser1233fs Multiple submitters CFTR-related disorder
- p.Ser1248Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Ser182fs Multiple submitters cystic fibrosis
- p.Ser489fs Multiple submitters CFTR-related disorder
- p.Ser495fs Multiple submitters CFTR-related disorder
- p.Ser50Pro Multiple submitters cystic fibrosis
- p.Ser589Asn Multiple submitters CFTR-related disorder ⚠
- p.Ser589Ile Multiple submitters cystic fibrosis ⚠
- p.Ser624fs Multiple submitters CFTR-related disorder
- p.Ser631fs Multiple submitters CFTR-related disorder
- p.Ser660Ter Multiple submitters cystic fibrosis
- p.Ser813fs Multiple submitters cystic fibrosis
- p.Ser858fs Multiple submitters CFTR-related disorder
- p.Thr1036Ile Multiple submitters cystic fibrosis
- p.Thr1246Ile Multiple submitters Cystic fibrosis diagnostic test ⚠
- p.Thr1263fs Multiple submitters CFTR-related disorder
- p.Thr338fs Multiple submitters CFTR-related disorder
- p.Thr421fs Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Thr465Asn Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Thr501Ala Multiple submitters CFTR-related disorder ⚠
- p.Thr604Ile Multiple submitters CFTR-related disorder ⚠
- p.Thr940fs Multiple submitters cystic fibrosis
- p.Trp1310Ter Multiple submitters CFTR-related disorder
- p.Trp57Arg Multiple submitters CFTR-related disorder
- p.Trp882fs Multiple submitters cystic fibrosis
- p.Tyr1032Cys Multiple submitters CFTR-related disorder ⚠
- p.Tyr109Cys Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Tyr109Ter Multiple submitters CFTR-related disorder
- p.Tyr1182Ter Multiple submitters cystic fibrosis
- p.Tyr1424Ter Multiple submitters cystic fibrosis
- p.Tyr380Ter Multiple submitters cystic fibrosis
- p.Tyr38Ter Multiple submitters CFTR-related disorder
- p.Tyr515fs Multiple submitters cystic fibrosis
- p.Tyr563His Multiple submitters cystic fibrosis
- p.Tyr569His Multiple submitters cystic fibrosis
- p.Tyr913Cys Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Tyr913Ter Multiple submitters cystic fibrosis
- p.Tyr914Ter Multiple submitters cystic fibrosis
- p.Tyr919fs Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Val1022_Gln1039del Multiple submitters cystic fibrosis
- p.Val1421fs Multiple submitters cystic fibrosis
- p.Val1447fs Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Val456Phe Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Val603fs Multiple submitters CFTR-related disorder
- p.Val754fs Multiple submitters cystic fibrosis
Likely pathogenic 352
Showing the top 300 by review status; the full set is in the sitemap.
- c.1210-3C>G Multiple submitters cystic fibrosis
- c.164+2T>A Multiple submitters cystic fibrosis
- c.2491-1G>A Multiple submitters cystic fibrosis
- c.3874-2A>G Multiple submitters CFTR-related disorder
- c.3963+1del Multiple submitters cystic fibrosis
- c.3963+1G>A Multiple submitters CFTR-related disorder
- c.3963+1G>C Multiple submitters CFTR-related disorder
- c.3963+1G>T Multiple submitters CFTR-related disorder
- c.3964-1_3964delinsTT Multiple submitters hereditary chronic pancreatitis
- c.4137-2A>G Multiple submitters CFTR-related disorder
- c.490-1G>C Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.870_1116del Multiple submitters CFTR-related disorder
- p.Ala1087Pro Multiple submitters cystic fibrosis
- p.Arg1283Ser Multiple submitters CFTR-related disorder
- p.Arg1438fs Multiple submitters cystic fibrosis
- p.Asn415fs Multiple submitters CFTR-related disorder
- p.Asp110Asn Multiple submitters cystic fibrosis
- p.Asp572Asn Multiple submitters CFTR-related disorder
- p.Gln1071Pro Multiple submitters CFTR-related disorder ⚠
- p.Gln493Arg Multiple submitters CFTR-related disorder
- p.Gln552Pro Multiple submitters cystic fibrosis
- p.Glu1221fs Multiple submitters cystic fibrosis
- p.Glu804Ter Multiple submitters CFTR-related disorder
- p.Glu873Ter Multiple submitters CFTR-related disorder
- p.Gly1244Val Multiple submitters Cystic fibrosis diagnostic test
- p.Gly451Ter Multiple submitters CFTR-related disorder
- p.Gly458Val Multiple submitters cystic fibrosis
- p.Ile601Thr Multiple submitters CFTR-related disorder
- p.Leu102Pro Multiple submitters CFTR-related disorder
- p.Leu127dup Multiple submitters CFTR-related disorder
- p.Leu145His Multiple submitters cystic fibrosis
- p.Leu558Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Leu666Ter Multiple submitters CFTR-related disorder
- p.Lys1183Ter Multiple submitters CFTR-related disorder
- p.Lys464Glu Multiple submitters cystic fibrosis
- p.Phe1026fs Multiple submitters CFTR-related disorder
- p.Phe1164fs Multiple submitters CFTR-related disorder
- p.Phe1450_Ter1481del Multiple submitters cystic fibrosis
- p.Pro1021Thr Multiple submitters cystic fibrosis
- p.Pro67Ser Multiple submitters cystic fibrosis
- p.Ser1045Tyr Multiple submitters CFTR-related disorder
- p.Ser1311fs Multiple submitters CFTR-related disorder
- p.Ser364Pro Multiple submitters CFTR-related disorder
- p.Thr1134fs Multiple submitters
- p.Thr398fs Multiple submitters CFTR-related disorder
- p.Trp216Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Tyr1073Cys Multiple submitters cystic fibrosis ⚠
- p.Tyr109Asn Multiple submitters CFTR-related disorder ⚠
- p.Tyr563Cys Multiple submitters cystic fibrosis
- p.Val1001_Ile1005del Multiple submitters CFTR-related disorder
- c.1117-1G>T Single submitter
- c.1171_1209+6del Single submitter cystic fibrosis
- c.(1209+1_1210-1 Single submitter cystic fibrosis
- c.1209+2T>A Single submitter cystic fibrosis
- c.1210-13_1220del Single submitter cystic fibrosis
- c.(1341+1_1342-1 Single submitter cystic fibrosis
- c.(1392+1_1393-1 Single submitter cystic fibrosis
- c.1766+2T>G Single submitter
- c.2440_2441insALU Single submitter cystic fibrosis
- c.2490+311_2619+359del Single submitter cystic fibrosis
- c.2490+827_2620-3551del Single submitter cystic fibrosis
- c.2491-1G>T Single submitter cystic fibrosis
- c.2619+2T>A Single submitter cystic fibrosis
- c.2620-2A>T Single submitter cystic fibrosis
- c.2658-2A>C Single submitter cystic fibrosis
- c.273+1G>C Single submitter cystic fibrosis
- c.2908+1G>T Single submitter bronchiectasis with or without elevated sweat chloride 1
- c.2909-2A>G Single submitter cystic fibrosis
- c.2909-2A>T Single submitter cystic fibrosis
- c.2988+2del Single submitter cystic fibrosis
- c.3139+1G>C Single submitter cystic fibrosis
- c.3140delG Single submitter CFTR-related disorder
- c.3281_3367+268delinsTGTAA Single submitter cystic fibrosis
- c.3367+1G>T Single submitter cystic fibrosis
- c.3367+2T>C Single submitter CFTR-related disorder
- c.(3428+1_3469-1 Single submitter cystic fibrosis
- c.3468+1G>T Single submitter cystic fibrosis
- c.3469-1G>C Single submitter cystic fibrosis
- c.3469-3_3469-2del Single submitter cystic fibrosis
- c.3469-52_3717+5032dup Single submitter cystic fibrosis
- c.3718-24_3873+601del Single submitter cystic fibrosis
- c.3718-5_3725del Single submitter cystic fibrosis
- c.3873+1G>C Single submitter bronchiectasis with or without elevated sweat chloride 1
- c.3874-2A>C Single submitter cystic fibrosis
- c.3963+2T>G Single submitter CFTR-related disorder
- c.3964-1G>C Single submitter cystic fibrosis
- c.3964-2A>T Single submitter CFTR-related disorder
- c.3964-7A>G Single submitter cystic fibrosis
- c.4136+1G>T Single submitter CFTR-related disorder
- c.4137-1G>A Single submitter CFTR-related disorder
- c.4137-1G>C Single submitter CFTR-related disorder
- c.4137-2del Single submitter CFTR-related disorder
- c.489+43_580-354del Single submitter cystic fibrosis
- c.53+1005T>G Single submitter cystic fibrosis
- c.579+3A>T Single submitter CFTR-related disorder
- c.743+2T>C Single submitter cystic fibrosis
- c.744-9_744-2delinsTACG Single submitter cystic fibrosis
- c.869+1_869+3del Single submitter bronchiectasis with or without elevated sweat chloride 1
- c.869+1_869+4delinsACATTATT Single submitter cystic fibrosis
- p.Ala1067Pro Single submitter cystic fibrosis
- p.Ala107Gly Single submitter cystic fibrosis ⚠
- p.Ala1225fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Ala1285fs Single submitter CFTR-related disorder
- p.Ala221fs Single submitter cystic fibrosis
- p.Ala457fs Single submitter cystic fibrosis
- p.Ala554fs Single submitter CFTR-related disorder
- p.Ala675fs Single submitter cystic fibrosis
- p.Ala72Asp Single submitter CFTR-related disorder
- p.Ala872Glu Single submitter CFTR-related disorder
- p.Ala923Asp Single submitter cystic fibrosis ⚠
- p.Arg1066Ser Single submitter cystic fibrosis
- p.Arg1070Pro Single submitter cystic fibrosis
- p.Arg117Leu Single submitter CFTR-related disorder
- p.Arg1245fs Single submitter CFTR-related disorder
- p.Arg1453fs Single submitter CFTR-related disorder
- p.Arg153Ile Single submitter
- p.Arg248Ter Single submitter cystic fibrosis
- p.Arg251Ter Single submitter cystic fibrosis
- p.Arg29Ter Single submitter CFTR-related disorder
- p.Arg516fs Single submitter cystic fibrosis
- p.Arg555Ter Single submitter cystic fibrosis
- p.Arg657fs Single submitter cystic fibrosis
- p.Arg658fs Single submitter cystic fibrosis
- p.Asn1148fs Single submitter CFTR-related disorder
- p.Asn1184fs Single submitter CFTR-related disorder
- p.Asn1303Lys Single submitter CFTR-related disorder
- p.Asn1303Tyr Single submitter hereditary chronic pancreatitis ⚠
- p.Asn445fs Single submitter cystic fibrosis
- p.Asn659fs Single submitter CFTR-related disorder
- p.Asn847fs Single submitter CFTR-related disorder
- p.Asp1152fs Single submitter CFTR-related disorder
- p.Asp1270Val Single submitter cystic fibrosis
- p.Asp1336fs Single submitter cystic fibrosis
- p.Asp1341fs Single submitter cystic fibrosis
- p.Asp579fs Single submitter cystic fibrosis
- p.Asp579His Single submitter cystic fibrosis
- p.Asp58Asn Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Asp651fs Single submitter CFTR-related disorder
- p.Asp729fs Single submitter
- p.Cys1344Ter Single submitter cystic fibrosis
- p.Cys590Ser Single submitter
- p.Gln1209fs Single submitter CFTR-related disorder
- p.Gln1330fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Gln1423Ter Single submitter CFTR-related disorder
- p.Gln179fs Single submitter cystic fibrosis
- p.Gln207fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Gln237fs Single submitter CFTR-related disorder
- p.Gln250_Arg251insTer Single submitter CFTR-related disorder
- p.Gln372His Single submitter cystic fibrosis ⚠
- p.Gln452fs Single submitter CFTR-related disorder
- p.Gln762fs Single submitter cystic fibrosis
- p.Gln762Ter Single submitter CFTR-related disorder
- p.Glu1075Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Glu1104Lys Single submitter CFTR-related disorder
- p.Glu1104Val Single submitter
- p.Glu1228Ter Single submitter cystic fibrosis
- p.Glu1418fs Single submitter CFTR-related disorder
- p.Glu33Ter Single submitter cystic fibrosis
- p.Glu384Ter Single submitter cystic fibrosis
- p.Glu391Ter Single submitter cystic fibrosis
- p.Glu403Asp Single submitter cystic fibrosis ⚠
- p.Glu527Ter Single submitter cystic fibrosis
- p.Glu608fs Single submitter cystic fibrosis
- p.Glu60fs Single submitter cystic fibrosis
- p.Glu60Gly Single submitter CFTR-related disorder
- p.Glu621Ter Single submitter cystic fibrosis
- p.Glu632fs Single submitter cystic fibrosis
- p.Glu681Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Glu746Ter Single submitter CFTR-related disorder
- p.Glu7fs Single submitter CFTR-related disorder
- p.Glu819Ter Single submitter cystic fibrosis
- p.Glu822Lys Single submitter cystic fibrosis ⚠
- p.Glu831fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Gly1061Ter Single submitter CFTR-related disorder
- p.Gly1069Arg Single submitter CFTR-related disorder ⚠
- p.Gly1123Arg Single submitter CFTR-related disorder ⚠
- p.Gly1125Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Gly1130fs Single submitter cystic fibrosis
- p.Gly1247Arg Single submitter CFTR-related disorder
- p.Gly124Arg Single submitter cystic fibrosis
- p.Gly1265Ter Single submitter cystic fibrosis
- p.Gly1333Trp Single submitter cystic fibrosis
- p.Gly1349fs Single submitter cystic fibrosis
- p.Gly228_Phe229insTer Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Gly27fs Single submitter CFTR-related disorder
- p.Gly27Glu Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Gly451fs Single submitter CFTR-related disorder
- p.Gly458Glu Single submitter cystic fibrosis ⚠
- p.Gly461Arg Single submitter CFTR-related disorder
- p.Gly461Val Single submitter CFTR-related disorder
- p.Gly500fs Single submitter CFTR-related disorder
- p.Gly509Arg Single submitter cystic fibrosis
- p.Gly509Asp Single submitter cystic fibrosis ⚠
- p.Gly551fs Single submitter CFTR-related disorder
- p.Gly551Val Single submitter cystic fibrosis
- p.Gly622fs Single submitter CFTR-related disorder
- p.Gly921fs Single submitter CFTR-related disorder
- p.Gly921Ter Single submitter CFTR-related disorder
- p.His1085fs Single submitter CFTR-related disorder
- p.His199Gln Single submitter CFTR-related disorder
- p.His620Pro Single submitter CFTR-related disorder
- p.His784fs Single submitter CFTR-related disorder
- p.His939fs Single submitter
- p.Ile1427Thr Single submitter cystic fibrosis
- p.Ile142fs Single submitter CFTR-related disorder
- p.Ile148fs Single submitter cystic fibrosis
- p.Ile154fs Single submitter CFTR-related disorder
- p.Ile175fs Single submitter CFTR-related disorder
- p.Ile331fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Ile502Ser Single submitter cystic fibrosis
- p.Ile506Asn Single submitter cystic fibrosis
- p.Ile507Phe Single submitter cystic fibrosis ⚠
- p.Ile601fs Single submitter cystic fibrosis
- p.Ile748fs Single submitter cystic fibrosis
- p.Ile853Thr Single submitter cystic fibrosis ⚠
- p.Ile942fs Single submitter cystic fibrosis
- p.Leu1011fs Single submitter CFTR-related disorder
- p.Leu1093Pro Single submitter CFTR-related disorder ⚠
- p.Leu1120fs Single submitter cystic fibrosis
- p.Leu1133fs Single submitter cystic fibrosis
- p.Leu1135fs Single submitter CFTR-related disorder
- p.Leu1143Ter Single submitter cystic fibrosis
- p.Leu1261fs Single submitter cystic fibrosis
- p.Leu1279Ter Single submitter cystic fibrosis
- p.Leu1368delinsCysLeuMet Single submitter cystic fibrosis
- p.Leu1408fs Single submitter CFTR-related disorder
- p.Leu1467_Ter1481delinsXaa Single submitter cystic fibrosis
- p.Leu1467fs Single submitter cystic fibrosis
- p.Leu15Arg Single submitter cystic fibrosis
- p.Leu15fs Single submitter CFTR-related disorder
- p.Leu206Ter Single submitter cystic fibrosis
- p.Leu24Ter Single submitter cystic fibrosis
- p.Leu320fs Single submitter CFTR-related disorder
- p.Leu375fs Single submitter CFTR-related disorder
- p.Leu454fs Single submitter CFTR-related disorder
- p.Leu558fs Single submitter cystic fibrosis
- p.Leu571Ter Single submitter CFTR-related disorder
- p.Leu578Pro Single submitter cystic fibrosis
- p.Leu69Arg Single submitter cystic fibrosis
- p.Leu812Ter Single submitter CFTR-related disorder
- p.Leu850_Tyr852del Single submitter cystic fibrosis
- p.Leu90Ter Single submitter cystic fibrosis
- p.Leu964fs Single submitter cystic fibrosis
- p.Lys1165fs Single submitter cystic fibrosis
- p.Lys1317Ter Single submitter cystic fibrosis
- p.Lys166Glu Single submitter CFTR-related disorder
- p.Lys174fs Single submitter cystic fibrosis
- p.Lys273Ter Single submitter cystic fibrosis
- p.Lys464Thr Single submitter cystic fibrosis
- p.Lys483Ter Single submitter cystic fibrosis
- p.Lys593fs Single submitter cystic fibrosis
- p.Lys593Ter Single submitter CFTR-related disorder
- p.Lys643fs Single submitter CFTR-related disorder
- p.Lys683fs Single submitter
- p.Lys857fs Single submitter CFTR-related disorder
- p.Lys95Ter Single submitter cystic fibrosis
- p.Met1140Lys Single submitter Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis ⚠
- p.Met498_Ile502del Single submitter
- p.Met961fs Single submitter CFTR-related disorder
- p.Phe1078Ser Single submitter CFTR-related disorder ⚠
- p.Phe305fs Single submitter cystic fibrosis
- p.Phe311Leu Single submitter cystic fibrosis ⚠
- p.Phe405fs Single submitter CFTR-related disorder
- p.Phe490fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Phe587Ser Single submitter cystic fibrosis
- p.Phe834fs Single submitter CFTR-related disorder
- p.Phe916fs Single submitter CFTR-related disorder
- p.Pro1236fs Single submitter CFTR-related disorder
- p.Pro67fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Ser1149fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Ser1276Ter Single submitter CFTR-related disorder
- p.Ser1460fs Single submitter CFTR-related disorder
- p.Ser168fs Single submitter cystic fibrosis
- p.Ser341Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Ser623fs Single submitter cystic fibrosis
- p.Ser63Ter Single submitter CFTR-related disorder
- p.Ser809Ter Single submitter cystic fibrosis
- p.Ser912fs Single submitter CFTR-related disorder
- p.Thr1036Ala Single submitter cystic fibrosis ⚠
- p.Thr1057fs Single submitter cystic fibrosis
- p.Thr1064Pro Single submitter cystic fibrosis
- p.Thr1211fs Single submitter CFTR-related disorder
- p.Thr1211fs Single submitter CFTR-related disorder
- p.Thr438fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Thr501Ile Single submitter cystic fibrosis
- p.Thr599fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Thr604Ala Single submitter cystic fibrosis ⚠
- p.Thr629fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Thr757fs Single submitter CFTR-related disorder
- p.Thr787fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Thr845fs Single submitter CFTR-related disorder
- p.Thr943fs Single submitter bronchiectasis with or without elevated sweat chloride 1
- p.Trp1098Leu Single submitter cystic fibrosis ⚠
- p.Trp19Cys Single submitter cystic fibrosis
- p.Trp496Ter Single submitter cystic fibrosis
- p.Trp679Ter Single submitter CFTR-related disorder
- p.Tyr109His Single submitter cystic fibrosis ⚠
- p.Tyr1182Ter Single submitter cystic fibrosis
- p.Tyr161fs Single submitter cystic fibrosis
- p.Tyr247Ter Single submitter cystic fibrosis
Conflicting classifications of pathogenicity 380
Showing the top 300 by review status; the full set is in the sitemap.
- c.1117-26_1117-25del Single submitter cystic fibrosis
- c.1117-5A>G Single submitter CFTR-related disorder
- c.1209+80G>A Single submitter cystic fibrosis
- c.1210-11_1210-10insG Single submitter cystic fibrosis
- c.1210-11_1210-9delinsG Single submitter cystic fibrosis
- c.1210-12_1210-11insG Single submitter Cystic fibrosis diagnostic test
- c.1210-12_1210-11insGTG Single submitter cystic fibrosis
- c.1210-13_1210-10del Single submitter cystic fibrosis
- c.1210-13_1210-11del Single submitter cystic fibrosis
- c.1210-13_1210-8del Single submitter cystic fibrosis
- c.1210-13del Single submitter bronchiectasis with or without elevated sweat chloride 1
- c.1210-15_1210-10del Single submitter cystic fibrosis
- c.1210-15G>T Single submitter cystic fibrosis
- c.1210-34TG[12] Single submitter cystic fibrosis
- c.1210-6T>A Single submitter bronchiectasis with or without elevated sweat chloride 1
- c.1392+12G>T Single submitter cystic fibrosis
- c.1584+12T>C Single submitter CFTR-related disorder
- c.1585-7G>A Single submitter cystic fibrosis
- c.1585-9395C>G Single submitter CFTR-related disorder
- c.164+12T>C Single submitter cystic fibrosis
- c.164+9A>T Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- c.165-12dup Single submitter cystic fibrosis
- c.1679+16T>C Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- c.1679+17T>G Single submitter cystic fibrosis
- c.1679+18G>A Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- c.1679+9C>G Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- c.1680-871_1680-870delinsGA Single submitter cystic fibrosis
- c.1766+73T>G Single submitter cystic fibrosis
- c.2490+12T>A Single submitter CFTR-related disorder
- c.2490+14G>T Single submitter cystic fibrosis
- c.2490+2T>C Single submitter CFTR-related disorder
- c.2620-15C>G Single submitter CFTR-related disorder
- c.2620-6T>C Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- c.2657+17C>T Single submitter cystic fibrosis
- c.273+8T>A Single submitter cystic fibrosis
- c.274-6T>C Single submitter CFTR-related disorder
- c.274-7526T>A Single submitter cystic fibrosis
- c.2908+20A>G Single submitter cystic fibrosis
- c.2908+4C>A Single submitter cystic fibrosis
- c.2909-15T>G Single submitter CFTR-related disorder
- c.2909-4A>G Single submitter cystic fibrosis
- c.2909-6T>C Single submitter cystic fibrosis
- c.2989-3C>G Single submitter cystic fibrosis
- c.3139+8A>G Single submitter cystic fibrosis
- c.3140-11A>G Single submitter cystic fibrosis
- c.3140-33A>G Single submitter CFTR-related disorder
- c.3368-20C>T Single submitter cystic fibrosis
- c.3368-4A>G Single submitter cystic fibrosis
- c.3469-17T>C Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- c.3717+14A>G Single submitter cystic fibrosis
- c.3718-24G>A Single submitter cystic fibrosis
- c.3873+28dup Single submitter CFTR-related disorder
- c.3873+7A>T Single submitter cystic fibrosis
- c.3874-4522A>G Single submitter CFTR-related disorder
- c.3874-4A>G Single submitter CFTR-related disorder
- c.3963+69A>G Single submitter cystic fibrosis
- c.3964-16T>C Single submitter cystic fibrosis
- c.3964-28G>A Single submitter cystic fibrosis
- c.4136+5G>A Single submitter cystic fibrosis
- c.4242+10T>C Single submitter CFTR-related disorder
- c.4242+5G>A Single submitter cystic fibrosis
- c.4243-16A>G Single submitter cystic fibrosis
- c.4243-20A>G Single submitter hereditary chronic pancreatitis
- c.4243-2A>G Single submitter cystic fibrosis
- c.4243-7del Single submitter CFTR-related disorder
- c.489+10C>G Single submitter cystic fibrosis
- c.489+3A>G Single submitter CFTR-related disorder
- c.489+87A>G Single submitter cystic fibrosis
- c.489+8T>G Single submitter cystic fibrosis
- c.53+4A>T Single submitter cystic fibrosis
- c.744-34_744-31del Single submitter CFTR-related disorder
- c.744-6T>G Single submitter cystic fibrosis
- c.869+14A>G Single submitter cystic fibrosis
- c.869+5G>A Single submitter CFTR-related disorder
- c.869+8G>C Single submitter cystic fibrosis
- c.869+8G>T Single submitter cystic fibrosis
- c.869+9T>C Single submitter cystic fibrosis
- c.870-4A>G Single submitter cystic fibrosis
- c.870-7_870-5del Single submitter cystic fibrosis
- c.-1043dup Single submitter hereditary chronic pancreatitis
- c.-226G>T Single submitter cystic fibrosis
- c.-234T>A Single submitter cystic fibrosis
- c.-288G>C Single submitter hereditary chronic pancreatitis
- c.-34C>T Single submitter bronchiectasis with or without elevated sweat chloride 1
- c.-812T>G Single submitter cystic fibrosis
- c.*2G>A Single submitter cystic fibrosis
- p.Ala1067Val Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Ala1136Thr Single submitter cystic fibrosis ⚠
- p.Ala120Thr Single submitter CFTR-related disorder ⚠
- p.Ala1285Val Single submitter cystic fibrosis ⚠
- p.Ala1364Val Single submitter hereditary chronic pancreatitis ⚠
- p.Ala141Asp Single submitter CFTR-related disorder ⚠
- p.Ala155Gly Single submitter CFTR-related disorder ⚠
- p.Ala198Pro Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Ala209= Single submitter CFTR-related disorder
- p.Ala223Val Single submitter cystic fibrosis
- p.Ala234Asp Single submitter cystic fibrosis ⚠
- p.Ala309Gly Single submitter hereditary chronic pancreatitis ⚠
- p.Ala349= Single submitter cystic fibrosis
- p.Ala349Pro Single submitter cystic fibrosis ⚠
- p.Ala455= Single submitter CFTR-related disorder
- p.Ala455Val Single submitter cystic fibrosis ⚠
- p.Ala457Pro Single submitter cystic fibrosis ⚠
- p.Ala534= Single submitter CFTR-related disorder
- p.Ala561Val Single submitter hereditary chronic pancreatitis ⚠
- p.Ala566Asp Single submitter cystic fibrosis ⚠
- p.Ala62Pro Single submitter cystic fibrosis ⚠
- p.Ala747Val Single submitter cystic fibrosis ⚠
- p.Ala842= Single submitter cystic fibrosis
- p.Ala923= Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- p.Ala9Val Single submitter cystic fibrosis ⚠
- p.Arg1097Cys Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Arg1162Leu Single submitter CFTR-related disorder ⚠
- p.Arg1446_Val1447insTer Single submitter cystic fibrosis
- p.Arg1453Gln Single submitter cystic fibrosis ⚠
- p.Arg1453Trp Single submitter CFTR-related disorder ⚠
- p.Arg153Lys Single submitter cystic fibrosis ⚠
- p.Arg170Cys Single submitter hereditary chronic pancreatitis ⚠
- p.Arg170His Single submitter CFTR-related disorder ⚠
- p.Arg242Lys Single submitter cystic fibrosis ⚠
- p.Arg248Gly Single submitter cystic fibrosis ⚠
- p.Arg248Thr Single submitter cystic fibrosis ⚠
- p.Arg258Gly Single submitter CFTR-related disorder ⚠
- p.Arg297Gln Single submitter CFTR-related disorder ⚠
- p.Arg31Cys Single submitter CFTR-related disorder ⚠
- p.Arg334Gln Single submitter CFTR-related disorder ⚠
- p.Arg347Cys Single submitter hereditary chronic pancreatitis ⚠
- p.Arg347Leu Single submitter cystic fibrosis ⚠
- p.Arg352Trp Single submitter CFTR-related disorder ⚠
- p.Arg516Gly Single submitter CFTR-related disorder ⚠
- p.Arg668Cys Single submitter Cystic fibrosis diagnostic test ⚠
- p.Arg709Gln Single submitter cystic fibrosis ⚠
- p.Arg74Gln Single submitter CFTR-related disorder ⚠
- p.Arg74Pro Single submitter cystic fibrosis ⚠
- p.Arg751Leu Single submitter CFTR-related disorder ⚠
- p.Arg75Gln Single submitter CFTR-related disorder ⚠
- p.Arg851Leu Single submitter CFTR-related disorder ⚠
- p.Arg933Gly Single submitter CFTR-related disorder ⚠
- p.Arg975= Single submitter cystic fibrosis
- p.Asn1088Asp Single submitter CFTR-related disorder
- p.Asn1224Lys Single submitter cystic fibrosis ⚠
- p.Asn1229= Single submitter CFTR-related disorder
- p.Asn1432= Single submitter cystic fibrosis
- p.Asn186Lys Single submitter cystic fibrosis ⚠
- p.Asn187= Single submitter cystic fibrosis
- p.Asn189Lys Single submitter cystic fibrosis ⚠
- p.Asn287Tyr Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Asn417Lys Single submitter CFTR-related disorder ⚠
- p.Asp110Tyr Single submitter CFTR-related disorder ⚠
- p.Asp110Val Single submitter CFTR-related disorder ⚠
- p.Asp1154Gly Single submitter CFTR-related disorder ⚠
- p.Asp1270Asn Single submitter cystic fibrosis ⚠
- p.Asp1377His Single submitter CFTR-related disorder ⚠
- p.Asp1445Asn Single submitter cystic fibrosis ⚠
- p.Asp192Val Single submitter CFTR-related disorder ⚠
- p.Asp425= Single submitter cystic fibrosis
- p.Asp443Tyr Single submitter Cystic fibrosis diagnostic test ⚠
- p.Asp529Gly Single submitter cystic fibrosis ⚠
- p.Asp537Asn Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Asp565Gly Single submitter CFTR-related disorder ⚠
- p.Asp567Ala Single submitter cystic fibrosis ⚠
- p.Asp579= Single submitter CFTR-related disorder
- p.Asp806Gly Single submitter CFTR-related disorder ⚠
- p.Asp836Tyr Single submitter cystic fibrosis ⚠
- p.Asp979= Single submitter CFTR-related disorder
- p.Asp979Ala Single submitter CFTR-related disorder ⚠
- p.Asp993Gly Single submitter cystic fibrosis ⚠
- p.Asp993Tyr Single submitter CFTR-related disorder ⚠
- p.Cys524Arg Single submitter cystic fibrosis ⚠
- p.Cys524Tyr Single submitter cystic fibrosis ⚠
- p.Gln1012= Single submitter cystic fibrosis
- p.Gln1186= Single submitter CFTR-related disorder
- p.Gln1291Arg Single submitter CFTR-related disorder ⚠
- p.Gln1352His Single submitter Respiratory ciliopathies including non-CF bronchiectasis ⚠
- p.Gln1463Ter Single submitter CFTR-related disorder
- p.Gln237His Single submitter CFTR-related disorder ⚠
- p.Gln237Pro Single submitter cystic fibrosis ⚠
- p.Gln359Lys Single submitter hereditary chronic pancreatitis ⚠
- p.Gln493Leu Single submitter cystic fibrosis ⚠
- p.Gln552Lys Single submitter cystic fibrosis ⚠
- p.Gln685= Single submitter cystic fibrosis
- p.Glu1044Gly Single submitter CFTR-related disorder ⚠
- p.Glu116Gln Single submitter cystic fibrosis ⚠
- p.Glu1409Lys Single submitter CFTR-related disorder ⚠
- p.Glu217Gly Single submitter Cystic fibrosis diagnostic test ⚠
- p.Glu527Gly Single submitter cystic fibrosis ⚠
- p.Glu528= Single submitter CFTR-related disorder
- p.Glu588Val Single submitter CFTR-related disorder ⚠
- p.Glu681Val Single submitter cystic fibrosis ⚠
- p.Glu725Lys Single submitter CFTR-related disorder ⚠
- p.Glu92Asp Single submitter cystic fibrosis ⚠
- p.Gly1173Ser Single submitter cystic fibrosis ⚠
- p.Gly1208Asp Single submitter cystic fibrosis ⚠
- p.Gly1249= Single submitter cystic fibrosis
- p.Gly1265Arg Single submitter cystic fibrosis ⚠
- p.Gly1265Glu Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Gly126Ser Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Gly1323= Single submitter CFTR-related disorder
- p.Gly178Glu Single submitter CFTR-related disorder ⚠
- p.Gly194Val Single submitter CFTR-related disorder ⚠
- p.Gly314Glu Single submitter CFTR-related disorder ⚠
- p.Gly451Val Single submitter cystic fibrosis ⚠
- p.Gly463Asp Single submitter CFTR-related disorder ⚠
- p.Gly480Ser Single submitter CFTR-related disorder ⚠
- p.Gly500Asp Single submitter cystic fibrosis ⚠
- p.Gly544Ser Single submitter cystic fibrosis ⚠
- p.Gly576Ala Single submitter Cystic fibrosis diagnostic test ⚠
- p.Gly622Asp Single submitter CFTR-related disorder ⚠
- p.Gly85Arg Single submitter cystic fibrosis ⚠
- p.Gly970Ser Single submitter Cystic fibrosis diagnostic test ⚠
- p.His139= Single submitter cystic fibrosis
- p.His147del Single submitter CFTR-related disorder
- p.His484= Single submitter cystic fibrosis
- p.His609Leu Single submitter cystic fibrosis ⚠
- p.His609Tyr Single submitter cystic fibrosis ⚠
- p.His620Gln Single submitter CFTR-related disorder ⚠
- p.His897Tyr Single submitter cystic fibrosis ⚠
- p.His939Arg Single submitter cystic fibrosis ⚠
- p.His949Leu Single submitter cystic fibrosis ⚠
- p.Ile1027Thr Single submitter Cystic fibrosis diagnostic test ⚠
- p.Ile1139Val Single submitter CFTR-related disorder ⚠
- p.Ile125Thr Single submitter CFTR-related disorder ⚠
- p.Ile1366Thr Single submitter CFTR-related disorder ⚠
- p.Ile1398Ser Single submitter cystic fibrosis ⚠
- p.Ile1464fs Single submitter CFTR-related disorder
- p.Ile148Asn Single submitter CFTR-related disorder
- p.Ile148Thr Single submitter CFTR-related disorder ⚠
- p.Ile285Phe Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Ile444Thr Single submitter cystic fibrosis ⚠
- p.Ile471Phe Single submitter cystic fibrosis ⚠
- p.Ile482= Single submitter cystic fibrosis
- p.Ile502Asn Single submitter cystic fibrosis ⚠
- p.Ile506Met Single submitter cystic fibrosis ⚠
- p.Ile506Ser Single submitter CFTR-related disorder ⚠
- p.Ile506Thr Single submitter CFTR-related disorder ⚠
- p.Ile506Val Single submitter hereditary chronic pancreatitis ⚠
- p.Ile530Asn Single submitter cystic fibrosis ⚠
- p.Ile713= Single submitter cystic fibrosis
- p.Ile752Ser Single submitter cystic fibrosis ⚠
- p.Ile807Met Single submitter CFTR-related disorder ⚠
- p.Ile853= Single submitter cystic fibrosis
- p.Ile980Lys Single submitter CFTR-related disorder ⚠
- p.Leu100Phe Single submitter cystic fibrosis ⚠
- p.Leu1040Phe Single submitter hereditary chronic pancreatitis ⚠
- p.Leu1156Phe Single submitter CFTR-related disorder
- p.Leu1253= Single submitter CFTR-related disorder
- p.Leu1258= Single submitter cystic fibrosis
- p.Leu127= Single submitter cystic fibrosis
- p.Leu129Arg Single submitter cystic fibrosis ⚠
- p.Leu137Pro Single submitter cystic fibrosis ⚠
- p.Leu1399= Single submitter cystic fibrosis
- p.Leu145Val Single submitter CFTR-related disorder ⚠
- p.Leu159Ser Single submitter CFTR-related disorder ⚠
- p.Leu15His Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Leu183Ile Single submitter cystic fibrosis ⚠
- p.Leu230= Single submitter cystic fibrosis
- p.Leu320= Single submitter cystic fibrosis
- p.Leu320Val Single submitter CFTR-related disorder ⚠
- p.Leu32Met Single submitter cystic fibrosis ⚠
- p.Leu365Pro Single submitter CFTR-related disorder ⚠
- p.Leu441Pro Single submitter CFTR-related disorder ⚠
- p.Leu454del Single submitter
- p.Leu467Phe Single submitter Fetal anomalies with a likely genetic cause ⚠
- p.Leu541Pro Single submitter cystic fibrosis ⚠
- p.Leu594Pro Single submitter cystic fibrosis ⚠
- p.Leu610Phe Single submitter cystic fibrosis ⚠
- p.Leu749= Single submitter CFTR-related disorder
- p.Leu863= Single submitter cystic fibrosis
- p.Leu889Phe Single submitter cystic fibrosis ⚠
- p.Leu88Ser Single submitter cystic fibrosis ⚠
- p.Leu967Ser Single submitter CFTR-related disorder ⚠
- p.Leu986Pro Single submitter cystic fibrosis ⚠
- p.Leu997Phe Single submitter CFTR-related disorder ⚠
- p.Lys114del Single submitter CFTR-related disorder
- p.Lys1284= Single submitter cystic fibrosis
- p.Lys1461Asn Single submitter cystic fibrosis ⚠
- p.Lys163Met Single submitter cystic fibrosis ⚠
- p.Lys68Glu Single submitter cystic fibrosis ⚠
- p.Met1028Arg Single submitter cystic fibrosis ⚠
- p.Met1137Val Single submitter CFTR-related disorder ⚠
- p.Met150Lys Single submitter CFTR-related disorder ⚠
- p.Met265Arg Single submitter CFTR-related disorder ⚠
- p.Met348Lys Single submitter cystic fibrosis ⚠
- p.Phe1016Ser Single submitter CFTR-related disorder ⚠
- p.Phe1068= Single submitter cystic fibrosis
- p.Phe1099Leu Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Phe1107Leu Single submitter cystic fibrosis ⚠
- p.Phe1257Leu Single submitter cystic fibrosis
- p.Phe131= Single submitter cystic fibrosis
- p.Phe200= Single submitter cystic fibrosis
- p.Phe200Ile Single submitter CFTR-related disorder ⚠
- p.Phe409= Single submitter cystic fibrosis
- p.Phe508Cys Single submitter CFTR-related disorder ⚠
- p.Phe575Tyr Single submitter CFTR-related disorder ⚠
- p.Phe587Ile Single submitter CFTR-related disorder ⚠
- p.Phe640= Single submitter congenital bilateral aplasia of vas deferens from CFTR mutation
- p.Phe693Leu Single submitter CFTR-related disorder
- p.Pro1013His Single submitter cystic fibrosis ⚠
- p.Pro1013Leu Single submitter CFTR-related disorder ⚠
- p.Pro1021Ser Single submitter cystic fibrosis ⚠
Benign 69
- c.1210-12= Multiple submitters cystic fibrosis
- c.1210-34TG[13] Multiple submitters cystic fibrosis
- c.1210-34TG[9] Multiple submitters cystic fibrosis
- c.1393-42G>A Multiple submitters hereditary chronic pancreatitis
- c.1393-61A>G Multiple submitters cystic fibrosis
- c.1680-124T>C Multiple submitters
- c.1766+152T>A Multiple submitters cystic fibrosis
- c.2619+106T>A Multiple submitters
- c.2619+86_2619+87del Multiple submitters cystic fibrosis
- c.273+86T>C Multiple submitters
- c.273+86T>G Multiple submitters
- c.2909-71G>C Multiple submitters cystic fibrosis
- c.2909-92G>A Multiple submitters cystic fibrosis
- c.3139+42A>T Multiple submitters cystic fibrosis
- c.3140-92T>C Multiple submitters cystic fibrosis
- c.3368-140A>C Multiple submitters cystic fibrosis
- c.3469-65C>A Multiple submitters cystic fibrosis
- c.3874-200G>A Multiple submitters cystic fibrosis
- c.4136+237C>T Multiple submitters
- c.4137-139G>A Multiple submitters cystic fibrosis
- c.4242+198T>C Multiple submitters
- c.579+113C>T Multiple submitters
- c.743+40A>G Multiple submitters cystic fibrosis
- c.744-33GATT[6] Multiple submitters cystic fibrosis
- c.869+11C>T Multiple submitters cystic fibrosis
- c.*133del Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.*325A>G Multiple submitters CFTR-related disorder
- c.1210-12_1210-11insGTGTT Single submitter cystic fibrosis
- c.1210-12_1210-11insGTGTTT Single submitter cystic fibrosis
- c.1210-12_1210-11insGTT Single submitter cystic fibrosis
- c.1210-12_1210-11insGTTT Single submitter cystic fibrosis
- c.1210-14_1210-13insTG Single submitter
- c.1210-17_1210-10del Single submitter cystic fibrosis
- c.1210-17_1210-11del Single submitter cystic fibrosis
- c.1210-34= Single submitter cystic fibrosis
- c.1210-34TG[11]T[7] Single submitter
- c.1392+11del Single submitter cystic fibrosis
- c.1392+152G>A Single submitter
- c.1392+198del Single submitter
- c.1392+60dup Single submitter cystic fibrosis
- c.1584+19del Single submitter cystic fibrosis
- c.1585-9218G>A Single submitter cystic fibrosis
- c.1680-1071A>G Single submitter cystic fibrosis
- c.1680-717A>G Single submitter cystic fibrosis
- c.1767-12del Single submitter cystic fibrosis
- c.273+46T>G Single submitter cystic fibrosis
- c.2988+11del Single submitter cystic fibrosis
- c.2989-81del Single submitter cystic fibrosis
- c.3367+196C>T Single submitter
- c.3367+214_3367+259del Single submitter
- c.3468+2109T>C Single submitter cystic fibrosis
- c.3873+10del Single submitter cystic fibrosis
- c.3873+117T>G Single submitter
- c.3874-105T>G Single submitter cystic fibrosis
- c.3874-8del Single submitter cystic fibrosis
- c.3964-283T>C Single submitter cystic fibrosis
- c.4137-5dup Single submitter cystic fibrosis
- c.53+3158A>G Single submitter cystic fibrosis
- c.54-589A>G Single submitter
- c.580-159G>A Single submitter
- c.580-202G>C Single submitter
- c.744-33= Single submitter cystic fibrosis
- c.869+233C>A Single submitter
- c.870-168A>G Single submitter
- c.870-5del Single submitter cystic fibrosis
- c.-85C>G Single submitter cystic fibrosis
- c.*133dup Single submitter cystic fibrosis
- p.Val470= Single submitter hereditary chronic pancreatitis
- c.1392+395G>A No assertion criteria CFTR-related disorder
Benign/Likely benign 36
- c.1209+18dup Multiple submitters cystic fibrosis
- c.1210-12T[9] Multiple submitters Inborn genetic diseases
- c.1210-13G>T Multiple submitters CFTR-related disorder
- c.1210-15_1210-13delinsT Multiple submitters cystic fibrosis
- c.1210-17_1210-12del Multiple submitters cystic fibrosis
- c.1210-34TG[10] Multiple submitters Inborn genetic diseases
- c.1210-6dup Multiple submitters cystic fibrosis
- c.1584+53_1584+63dup Multiple submitters cystic fibrosis
- c.1680-870T>A Multiple submitters cystic fibrosis
- c.1767-136T>C Multiple submitters cystic fibrosis
- c.274-13dup Multiple submitters cystic fibrosis
- c.274-179G>A Multiple submitters cystic fibrosis
- c.3139+18C>T Multiple submitters cystic fibrosis
- c.3367+37G>A Multiple submitters cystic fibrosis
- c.3368-13del Multiple submitters cystic fibrosis
- c.3469-20T>C Multiple submitters hereditary chronic pancreatitis
- c.3717+45G>A Multiple submitters cystic fibrosis
- c.3718-2530A>G Multiple submitters hereditary chronic pancreatitis
- c.4242+13A>G Multiple submitters hereditary chronic pancreatitis
- c.4243-35del Multiple submitters cystic fibrosis
- c.4243-5C>T Multiple submitters hereditary chronic pancreatitis
- c.744-33GATT[5] Multiple submitters cystic fibrosis
- c.744-33GATT[8] Multiple submitters cystic fibrosis
- c.-4G>C Multiple submitters cystic fibrosis
- c.-887C>T Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.-8G>C Multiple submitters cystic fibrosis
- c.*1043A>C Multiple submitters CFTR-related disorder
- c.*1251C>T Multiple submitters CFTR-related disorder
- p.Asn418= Multiple submitters cystic fibrosis
- p.Gln1463= Multiple submitters hereditary chronic pancreatitis
- p.Glu527= Multiple submitters CFTR-related disorder
- p.Ile507Val Multiple submitters cystic fibrosis
- p.Ile556Val Multiple submitters CFTR-related disorder
- p.Thr1263= Multiple submitters cystic fibrosis
- p.Val470Met Multiple submitters CFTR-related disorder
- p.Val868= Multiple submitters cystic fibrosis
Likely benign 1371
Showing the top 300 by review status; the full set is in the sitemap.
- c.1116+12T>G Multiple submitters cystic fibrosis
- c.1116+15T>A Multiple submitters cystic fibrosis
- c.1117-17C>T Multiple submitters cystic fibrosis
- c.1209+12T>A Multiple submitters cystic fibrosis
- c.1209+18A>C Multiple submitters cystic fibrosis
- c.1209+7A>T Multiple submitters cystic fibrosis
- c.1209+9T>G Multiple submitters cystic fibrosis
- c.1210-14_1210-13insAT Multiple submitters cystic fibrosis
- c.1210-14_1210-13insTT Multiple submitters cystic fibrosis
- c.1210-15del Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- c.1392+10T>C Multiple submitters cystic fibrosis
- c.1392+12G>C Multiple submitters cystic fibrosis
- c.1392+15C>G Multiple submitters cystic fibrosis
- c.1392+19A>G Multiple submitters cystic fibrosis
- c.1393-13G>A Multiple submitters cystic fibrosis
- c.1393-20A>G Multiple submitters cystic fibrosis
- c.1584+15G>T Multiple submitters cystic fibrosis
- c.1584+77A>G Multiple submitters
- c.1585-19T>C Multiple submitters cystic fibrosis
- c.164+10T>C Multiple submitters cystic fibrosis
- c.164+14C>G Multiple submitters cystic fibrosis
- c.164+15A>G Multiple submitters cystic fibrosis
- c.1679+11A>G Multiple submitters cystic fibrosis
- c.1679+17T>C Multiple submitters cystic fibrosis
- c.1679+18G>C Multiple submitters cystic fibrosis
- c.1679+18G>T Multiple submitters cystic fibrosis
- c.1679+8A>G Multiple submitters cystic fibrosis
- c.1680-13A>G Multiple submitters cystic fibrosis
- c.1680-871A>G Multiple submitters CFTR-related disorder
- c.1680-877G>A Multiple submitters cystic fibrosis
- c.1766+16A>G Multiple submitters cystic fibrosis
- c.1766+8C>G Multiple submitters cystic fibrosis
- c.1767-11A>G Multiple submitters cystic fibrosis
- c.1767-9A>G Multiple submitters cystic fibrosis
- c.2490+11A>G Multiple submitters cystic fibrosis
- c.2490+14G>A Multiple submitters cystic fibrosis
- c.2490+18G>T Multiple submitters cystic fibrosis
- c.2490+19G>C Multiple submitters cystic fibrosis
- c.2490+19G>T Multiple submitters cystic fibrosis
- c.2490+8T>C Multiple submitters cystic fibrosis
- c.2619+17G>T Multiple submitters cystic fibrosis
- c.2619+19A>G Multiple submitters cystic fibrosis
- c.2619+20_2619+24del Multiple submitters cystic fibrosis
- c.2620-11T>C Multiple submitters cystic fibrosis
- c.2620-12G>A Multiple submitters cystic fibrosis
- c.2620-12G>T Multiple submitters cystic fibrosis
- c.2620-14T>C Multiple submitters cystic fibrosis
- c.2620-15C>T Multiple submitters cystic fibrosis
- c.2620-17G>A Multiple submitters cystic fibrosis
- c.2620-19G>A Multiple submitters cystic fibrosis
- c.2620-97C>T Multiple submitters cystic fibrosis
- c.2657+12A>G Multiple submitters cystic fibrosis
- c.2657+19A>G Multiple submitters cystic fibrosis
- c.273+11C>T Multiple submitters cystic fibrosis
- c.273+13T>C Multiple submitters cystic fibrosis
- c.274-13T>C Multiple submitters cystic fibrosis
- c.274-8T>C Multiple submitters cystic fibrosis
- c.274-9C>A Multiple submitters cystic fibrosis
- c.274-9C>T Multiple submitters cystic fibrosis
- c.2908+10T>C Multiple submitters cystic fibrosis
- c.2908+12G>C Multiple submitters cystic fibrosis
- c.2908+138C>T Multiple submitters
- c.2908+14T>G Multiple submitters cystic fibrosis
- c.2908+15C>G Multiple submitters cystic fibrosis
- c.2908+19G>C Multiple submitters cystic fibrosis
- c.2909-11G>A Multiple submitters cystic fibrosis
- c.2988+13A>T Multiple submitters cystic fibrosis
- c.2988+16T>A Multiple submitters cystic fibrosis
- c.2988+19C>T Multiple submitters cystic fibrosis
- c.2988+20G>A Multiple submitters cystic fibrosis
- c.3139+11G>C Multiple submitters cystic fibrosis
- c.3139+17G>T Multiple submitters cystic fibrosis
- c.3139+19G>A Multiple submitters cystic fibrosis
- c.3140-17A>G Multiple submitters cystic fibrosis
- c.3367+246C>T Multiple submitters
- c.3367+8G>A Multiple submitters cystic fibrosis
- c.3368-10G>A Multiple submitters cystic fibrosis
- c.3368-17C>T Multiple submitters cystic fibrosis
- c.3368-19G>A Multiple submitters cystic fibrosis
- c.3718-15A>C Multiple submitters cystic fibrosis
- c.3718-16C>T Multiple submitters cystic fibrosis
- c.3718-18A>G Multiple submitters cystic fibrosis
- c.3873+11G>A Multiple submitters cystic fibrosis
- c.3873+15T>G Multiple submitters cystic fibrosis
- c.3873+9A>G Multiple submitters cystic fibrosis
- c.3874-14C>G Multiple submitters cystic fibrosis
- c.3874-27TTC[2] Multiple submitters cystic fibrosis
- c.3963+15T>C Multiple submitters cystic fibrosis
- c.3963+20T>G Multiple submitters cystic fibrosis
- c.3964-6C>T Multiple submitters cystic fibrosis
- c.4136+14G>A Multiple submitters cystic fibrosis
- c.4137-12T>C Multiple submitters cystic fibrosis
- c.4137-7T>C Multiple submitters cystic fibrosis
- c.4242+19A>C Multiple submitters cystic fibrosis
- c.4242+20C>T Multiple submitters cystic fibrosis
- c.4242+8T>C Multiple submitters cystic fibrosis
- c.489+8T>C Multiple submitters cystic fibrosis
- c.489+91A>G Multiple submitters cystic fibrosis
- c.490-15C>T Multiple submitters cystic fibrosis
- c.490-9T>A Multiple submitters cystic fibrosis
- c.53+11G>A Multiple submitters cystic fibrosis
- c.53+16A>G Multiple submitters cystic fibrosis
- c.53+17C>A Multiple submitters cystic fibrosis
- c.53+18C>A Multiple submitters cystic fibrosis
- c.53+9G>T Multiple submitters cystic fibrosis
- c.579+11A>G Multiple submitters cystic fibrosis
- c.579+16T>C Multiple submitters cystic fibrosis
- c.579+8C>A Multiple submitters cystic fibrosis
- c.580-92T>A Multiple submitters cystic fibrosis
- c.580-9A>G Multiple submitters cystic fibrosis
- c.744-15T>C Multiple submitters cystic fibrosis
- c.869+88T>A Multiple submitters
- c.870-14A>G Multiple submitters cystic fibrosis
- p.Ala1009= Multiple submitters cystic fibrosis
- p.Ala107= Multiple submitters cystic fibrosis
- p.Ala1364= Multiple submitters cystic fibrosis
- p.Ala1391= Multiple submitters cystic fibrosis
- p.Ala196= Multiple submitters cystic fibrosis
- p.Ala198= Multiple submitters cystic fibrosis
- p.Ala204= Multiple submitters cystic fibrosis
- p.Ala274= Multiple submitters cystic fibrosis
- p.Ala300= Multiple submitters cystic fibrosis
- p.Ala457= Multiple submitters cystic fibrosis
- p.Ala72= Multiple submitters cystic fibrosis
- p.Ala747= Multiple submitters cystic fibrosis
- p.Ala763= Multiple submitters cystic fibrosis
- p.Ala797= Multiple submitters cystic fibrosis
- p.Ala9= Multiple submitters cystic fibrosis
- p.Ala96= Multiple submitters cystic fibrosis
- p.Arg104= Multiple submitters cystic fibrosis
- p.Arg1070= Multiple submitters cystic fibrosis
- p.Arg1102= Multiple submitters cystic fibrosis
- p.Arg1158= Multiple submitters cystic fibrosis
- p.Arg117= Multiple submitters cystic fibrosis
- p.Arg1301= Multiple submitters cystic fibrosis
- p.Arg1325= Multiple submitters cystic fibrosis
- p.Arg1422= Multiple submitters cystic fibrosis
- p.Arg1446= Multiple submitters cystic fibrosis
- p.Arg170= Multiple submitters cystic fibrosis
- p.Arg258= Multiple submitters cystic fibrosis
- p.Arg289= Multiple submitters cystic fibrosis
- p.Arg658= Multiple submitters cystic fibrosis
- p.Arg709= Multiple submitters cystic fibrosis
- p.Arg74= Multiple submitters cystic fibrosis
- p.Arg751= Multiple submitters cystic fibrosis
- p.Arg899= Multiple submitters cystic fibrosis
- p.Asn189= Multiple submitters cystic fibrosis
- p.Asn415= Multiple submitters cystic fibrosis
- p.Asn416= Multiple submitters cystic fibrosis
- p.Asn423= Multiple submitters cystic fibrosis
- p.Asn432= Multiple submitters cystic fibrosis
- p.Asn505= Multiple submitters cystic fibrosis
- p.Asn538= Multiple submitters cystic fibrosis
- p.Asn771= Multiple submitters cystic fibrosis
- p.Asn782= Multiple submitters cystic fibrosis
- p.Asn825= Multiple submitters cystic fibrosis
- p.Asn901= Multiple submitters cystic fibrosis
- p.Asn965= Multiple submitters cystic fibrosis
- p.Asn974= Multiple submitters cystic fibrosis
- p.Asp112= Multiple submitters cystic fibrosis
- p.Asp1152= Multiple submitters cystic fibrosis
- p.Asp1168= Multiple submitters cystic fibrosis
- p.Asp1201= Multiple submitters cystic fibrosis
- p.Asp1202= Multiple submitters cystic fibrosis
- p.Asp1320= Multiple submitters cystic fibrosis
- p.Asp1336= Multiple submitters cystic fibrosis
- p.Asp1370= Multiple submitters cystic fibrosis
- p.Asp1394= Multiple submitters cystic fibrosis
- p.Asp1445= Multiple submitters cystic fibrosis
- p.Asp1477= Multiple submitters cystic fibrosis
- p.Asp426= Multiple submitters cystic fibrosis
- p.Asp513= Multiple submitters cystic fibrosis
- p.Asp529= Multiple submitters cystic fibrosis
- p.Asp674= Multiple submitters cystic fibrosis
- p.Asp727= Multiple submitters cystic fibrosis
- p.Asp828= Multiple submitters cystic fibrosis
- p.Asp835= Multiple submitters cystic fibrosis
- p.Asp836= Multiple submitters cystic fibrosis
- p.Asp924= Multiple submitters cystic fibrosis
- p.Asp985= Multiple submitters cystic fibrosis
- p.Asp993= Multiple submitters cystic fibrosis
- p.Cys225= Multiple submitters cystic fibrosis
- p.Cys343= Multiple submitters cystic fibrosis
- p.Cys590= Multiple submitters cystic fibrosis
- p.Cys76= Multiple submitters cystic fibrosis
- p.Cys832= Multiple submitters cystic fibrosis
- p.Gln1209= Multiple submitters cystic fibrosis
- p.Gln1411= Multiple submitters cystic fibrosis
- p.Gln1412= Multiple submitters cystic fibrosis
- p.Gln1423= Multiple submitters cystic fibrosis
- p.Gln179= Multiple submitters cystic fibrosis
- p.Gln270= Multiple submitters cystic fibrosis
- p.Gln353= Multiple submitters cystic fibrosis
- p.Gln359= Multiple submitters cystic fibrosis
- p.Gln634= Multiple submitters cystic fibrosis
- p.Gln689= Multiple submitters cystic fibrosis
- p.Gln762= Multiple submitters cystic fibrosis
- p.Gln767= Multiple submitters cystic fibrosis
- p.Gln814= Multiple submitters cystic fibrosis
- p.Gln98= Multiple submitters cystic fibrosis
- p.Glu1266= Multiple submitters cystic fibrosis
- p.Glu1371= Multiple submitters cystic fibrosis
- p.Glu1470= Multiple submitters cystic fibrosis
- p.Glu1474= Multiple submitters cystic fibrosis
- p.Glu217= Multiple submitters cystic fibrosis
- p.Glu267= Multiple submitters cystic fibrosis
- p.Glu282= Multiple submitters cystic fibrosis
- p.Glu292= Multiple submitters cystic fibrosis
- p.Glu379= Multiple submitters cystic fibrosis
- p.Glu407= Multiple submitters cystic fibrosis
- p.Glu474= Multiple submitters cystic fibrosis
- p.Glu476= Multiple submitters cystic fibrosis
- p.Glu479= Multiple submitters cystic fibrosis
- p.Glu535= Multiple submitters cystic fibrosis
- p.Glu543= Multiple submitters cystic fibrosis
- p.Glu60= Multiple submitters cystic fibrosis
- p.Glu608= Multiple submitters cystic fibrosis
- p.Glu672= Multiple submitters cystic fibrosis
- p.Glu692= Multiple submitters cystic fibrosis
- p.Glu726= Multiple submitters cystic fibrosis
- p.Glu730= Multiple submitters cystic fibrosis
- p.Glu831= Multiple submitters cystic fibrosis
- p.Gly1003= Multiple submitters cystic fibrosis
- p.Gly1047= Multiple submitters cystic fibrosis
- p.Gly1061= Multiple submitters cystic fibrosis
- p.Gly1185= Multiple submitters cystic fibrosis
- p.Gly1207= Multiple submitters cystic fibrosis
- p.Gly1241= Multiple submitters cystic fibrosis
- p.Gly126= Multiple submitters cystic fibrosis
- p.Gly1342= Multiple submitters cystic fibrosis
- p.Gly1349= Multiple submitters cystic fibrosis
- p.Gly144= Multiple submitters cystic fibrosis
- p.Gly194= Multiple submitters cystic fibrosis
- p.Gly213= Multiple submitters cystic fibrosis
- p.Gly228= Multiple submitters cystic fibrosis
- p.Gly239= Multiple submitters cystic fibrosis
- p.Gly241= Multiple submitters cystic fibrosis
- p.Gly314= Multiple submitters cystic fibrosis
- p.Gly404= Multiple submitters cystic fibrosis
- p.Gly406= Multiple submitters cystic fibrosis
- p.Gly424= Multiple submitters cystic fibrosis
- p.Gly437= Multiple submitters cystic fibrosis
- p.Gly451= Multiple submitters cystic fibrosis
- p.Gly458= Multiple submitters cystic fibrosis
- p.Gly486= Multiple submitters cystic fibrosis
- p.Gly544= Multiple submitters cystic fibrosis
- p.Gly646= Multiple submitters cystic fibrosis
- p.Gly673= Multiple submitters cystic fibrosis
- p.Gly694= Multiple submitters cystic fibrosis
- p.Gly745= Multiple submitters cystic fibrosis
- p.Gly934= Multiple submitters cystic fibrosis
- p.His1079= Multiple submitters cystic fibrosis
- p.His1197= Multiple submitters cystic fibrosis
- p.His1402= Multiple submitters cystic fibrosis
- p.His667= Multiple submitters cystic fibrosis
- p.His856= Multiple submitters cystic fibrosis
- p.His897= Multiple submitters cystic fibrosis
- p.His939= Multiple submitters cystic fibrosis
- p.Ile1000= Multiple submitters cystic fibrosis
- p.Ile1106= Multiple submitters cystic fibrosis
- p.Ile1269= Multiple submitters cystic fibrosis
- p.Ile1398= Multiple submitters cystic fibrosis
- p.Ile160= Multiple submitters cystic fibrosis
- p.Ile175= Multiple submitters cystic fibrosis
- p.Ile255= Multiple submitters cystic fibrosis
- p.Ile331= Multiple submitters cystic fibrosis
- p.Ile344= Multiple submitters cystic fibrosis
- p.Ile40= Multiple submitters cystic fibrosis
- p.Ile488= Multiple submitters cystic fibrosis
- p.Ile546= Multiple submitters cystic fibrosis
- p.Ile556= Multiple submitters cystic fibrosis
- p.Ile586= Multiple submitters cystic fibrosis
- p.Ile724= Multiple submitters cystic fibrosis
- p.Ile820= Multiple submitters cystic fibrosis
- p.Ile824= Multiple submitters cystic fibrosis
- p.Ile86= Multiple submitters cystic fibrosis
- p.Leu100= Multiple submitters cystic fibrosis
- p.Leu1011= Multiple submitters hereditary chronic pancreatitis
- p.Leu1062= Multiple submitters cystic fibrosis
- p.Leu1091= Multiple submitters cystic fibrosis
- p.Leu1093= Multiple submitters cystic fibrosis
- p.Leu1096= Multiple submitters cystic fibrosis
- p.Leu1143= Multiple submitters cystic fibrosis
- p.Leu1227= Multiple submitters cystic fibrosis
- p.Leu1242= Multiple submitters cystic fibrosis
- p.Leu1243= Multiple submitters cystic fibrosis
- p.Leu1260= Multiple submitters cystic fibrosis
- p.Leu1261= Multiple submitters cystic fibrosis
- p.Leu1304= Multiple submitters cystic fibrosis
- p.Leu136= Multiple submitters cystic fibrosis
- p.Leu1369= Multiple submitters cystic fibrosis
- p.Leu1376= Multiple submitters cystic fibrosis
- p.Leu1408= Multiple submitters cystic fibrosis
- p.Leu1430= Multiple submitters cystic fibrosis
- p.Leu1431= Multiple submitters cystic fibrosis
- p.Leu1449= Multiple submitters cystic fibrosis
- p.Leu159= Multiple submitters cystic fibrosis
- p.Leu197= Multiple submitters cystic fibrosis
- p.Leu206= Multiple submitters cystic fibrosis
- p.Leu214= Multiple submitters cystic fibrosis
Uncertain significance 2451
Showing the top 300 by review status; the full set is in the sitemap.
- c.164+28A>G Expert panel cystic fibrosis
- c.165-3C>T Expert panel cystic fibrosis
- c.2620-26A>G Expert panel cystic fibrosis
- c.2657+2_2657+3insA Expert panel cystic fibrosis
- p.Ala349Val Expert panel cystic fibrosis ⚠
- p.Arg31Leu Expert panel cystic fibrosis ⚠
- p.Asp924Asn Expert panel cystic fibrosis ⚠
- p.Met952Thr Expert panel cystic fibrosis ⚠
- p.Ser912Leu Expert panel cystic fibrosis ⚠
- p.Tyr1014Cys Expert panel cystic fibrosis ⚠
- p.Val201Met Expert panel cystic fibrosis ⚠
- c.1116+6G>A Multiple submitters cystic fibrosis
- c.1209+6A>G Multiple submitters cystic fibrosis
- c.1210-6del Multiple submitters cystic fibrosis
- c.1360_1381delinsATAGAAA Multiple submitters cystic fibrosis
- c.1393-3C>A Multiple submitters cystic fibrosis
- c.1585-9T>C Multiple submitters cystic fibrosis
- c.164+3A>G Multiple submitters cystic fibrosis
- c.164+5G>C Multiple submitters cystic fibrosis
- c.1680-6T>G Multiple submitters cystic fibrosis
- c.2490+5G>T Multiple submitters cystic fibrosis
- c.2619+3A>G Multiple submitters cystic fibrosis
- c.2657+3G>T Multiple submitters cystic fibrosis
- c.273+4A>G Multiple submitters cystic fibrosis
- c.274-5T>A Multiple submitters cystic fibrosis
- c.2988+33G>T Multiple submitters cystic fibrosis
- c.3139+3A>G Multiple submitters cystic fibrosis
- c.3140-4A>G Multiple submitters cystic fibrosis
- c.3368_3370delGAG Multiple submitters cystic fibrosis
- c.3368-3T>C Multiple submitters cystic fibrosis
- c.3376_3381delGAAGGA Multiple submitters cystic fibrosis
- c.3376_3381dup Multiple submitters
- c.3468+6T>C Multiple submitters cystic fibrosis
- c.3469-3C>A Multiple submitters cystic fibrosis
- c.3718-2473_3718-2472insCAGAGT Multiple submitters cystic fibrosis
- c.3718-3T>C Multiple submitters cystic fibrosis
- c.3873+3G>T Multiple submitters
- c.3873+5G>A Multiple submitters cystic fibrosis
- c.3963+5G>C Multiple submitters cystic fibrosis
- c.3963+6G>T Multiple submitters cystic fibrosis
- c.3964-16T>G Multiple submitters cystic fibrosis
- c.4136+6T>A Multiple submitters cystic fibrosis
- c.4136+6T>G Multiple submitters
- c.4242+6T>C Multiple submitters cystic fibrosis
- c.489+5T>C Multiple submitters cystic fibrosis
- c.579+4del Multiple submitters
- c.579+4T>C Multiple submitters cystic fibrosis
- c.-116C>T Multiple submitters cystic fibrosis
- c.*1249T>C Multiple submitters CFTR-related disorder
- c.*144C>T Multiple submitters CFTR-related disorder
- c.*482C>T Multiple submitters CFTR-related disorder
- c.*684A>G Multiple submitters CFTR-related disorder
- c.*81C>T Multiple submitters CFTR-related disorder
- c.*926G>A Multiple submitters CFTR-related disorder
- p.Ala1009Thr Multiple submitters CFTR-related disorder ⚠
- p.Ala1025Ser Multiple submitters cystic fibrosis ⚠
- p.Ala1136Val Multiple submitters cystic fibrosis ⚠
- p.Ala120Val Multiple submitters cystic fibrosis ⚠
- p.Ala1217Val Multiple submitters congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Ala1225Val Multiple submitters cystic fibrosis ⚠
- p.Ala1256Val Multiple submitters cystic fibrosis ⚠
- p.Ala1285Thr Multiple submitters cystic fibrosis ⚠
- p.Ala1319Glu Multiple submitters cystic fibrosis ⚠
- p.Ala1374Gly Multiple submitters cystic fibrosis ⚠
- p.Ala1466Ser Multiple submitters cystic fibrosis ⚠
- p.Ala155Ser Multiple submitters cystic fibrosis ⚠
- p.Ala196Pro Multiple submitters cystic fibrosis ⚠
- p.Ala198Thr Multiple submitters cystic fibrosis ⚠
- p.Ala198Val Multiple submitters cystic fibrosis ⚠
- p.Ala204Thr Multiple submitters cystic fibrosis ⚠
- p.Ala209Ser Multiple submitters cystic fibrosis ⚠
- p.Ala221Glu Multiple submitters cystic fibrosis ⚠
- p.Ala221Val Multiple submitters cystic fibrosis ⚠
- p.Ala234Ser Multiple submitters cystic fibrosis ⚠
- p.Ala238Val Multiple submitters cystic fibrosis ⚠
- p.Ala252Pro Multiple submitters cystic fibrosis ⚠
- p.Ala252Ser Multiple submitters cystic fibrosis ⚠
- p.Ala252Thr Multiple submitters cystic fibrosis ⚠
- p.Ala280Thr Multiple submitters cystic fibrosis ⚠
- p.Ala309Thr Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Ala357Thr Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Ala357Val Multiple submitters ⚠
- p.Ala399Val Multiple submitters CFTR-related disorder ⚠
- p.Ala412Ser Multiple submitters cystic fibrosis ⚠
- p.Ala46Val Multiple submitters congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Ala534Glu Multiple submitters congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Ala534Ser Multiple submitters cystic fibrosis ⚠
- p.Ala561Thr Multiple submitters cystic fibrosis ⚠
- p.Ala566Thr Multiple submitters ⚠
- p.Ala655Thr Multiple submitters cystic fibrosis ⚠
- p.Ala655Val Multiple submitters cystic fibrosis ⚠
- p.Ala763Thr Multiple submitters cystic fibrosis ⚠
- p.Ala797Ser Multiple submitters cystic fibrosis ⚠
- p.Ala872Thr Multiple submitters cystic fibrosis ⚠
- p.Ala876Val Multiple submitters cystic fibrosis ⚠
- p.Ala959Val Multiple submitters cystic fibrosis ⚠
- p.Ala969= Multiple submitters cystic fibrosis
- p.Arg1097His Multiple submitters nasal cavity polyp ⚠
- p.Arg1128Gly Multiple submitters cystic fibrosis ⚠
- p.Arg1158Gln Multiple submitters cystic fibrosis
- p.Arg1162Gln Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Arg1259Thr Multiple submitters cystic fibrosis ⚠
- p.Arg1283Lys Multiple submitters cystic fibrosis ⚠
- p.Arg1325Ser Multiple submitters cystic fibrosis
- p.Arg1403Gly Multiple submitters cystic fibrosis ⚠
- p.Arg1422Gln Multiple submitters cystic fibrosis ⚠
- p.Arg1422Trp Multiple submitters cystic fibrosis ⚠
- p.Arg1438Gln Multiple submitters cystic fibrosis ⚠
- p.Arg1438Trp Multiple submitters cystic fibrosis ⚠
- p.Arg1446Gly Multiple submitters cystic fibrosis ⚠
- p.Arg1479Lys Multiple submitters cystic fibrosis ⚠
- p.Arg170Ser Multiple submitters cystic fibrosis
- p.Arg21Ile Multiple submitters cystic fibrosis ⚠
- p.Arg248Lys Multiple submitters cystic fibrosis ⚠
- p.Arg258Ile Multiple submitters cystic fibrosis ⚠
- p.Arg258Lys Multiple submitters cystic fibrosis ⚠
- p.Arg297Trp Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Arg31His Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Arg347Ser Multiple submitters cystic fibrosis ⚠
- p.Arg3Met Multiple submitters CFTR-related disorder
- p.Arg3Trp Multiple submitters ⚠
- p.Arg450Gly Multiple submitters cystic fibrosis ⚠
- p.Arg450Ile Multiple submitters cystic fibrosis ⚠
- p.Arg518Gly Multiple submitters cystic fibrosis ⚠
- p.Arg553Gln Multiple submitters cystic fibrosis ⚠
- p.Arg553Gly Multiple submitters cystic fibrosis ⚠
- p.Arg709Gly Multiple submitters cystic fibrosis ⚠
- p.Arg735Ser Multiple submitters cystic fibrosis
- p.Arg751Cys Multiple submitters cystic fibrosis ⚠
- p.Arg751His Multiple submitters cystic fibrosis ⚠
- p.Arg75Leu Multiple submitters cystic fibrosis ⚠
- p.Arg764Gln Multiple submitters cystic fibrosis ⚠
- p.Arg785Gln Multiple submitters cystic fibrosis ⚠
- p.Arg792Gln Multiple submitters cystic fibrosis ⚠
- p.Arg792Gly Multiple submitters hereditary chronic pancreatitis ⚠
- p.Arg810Gly Multiple submitters cystic fibrosis ⚠
- p.Arg811Ser Multiple submitters cystic fibrosis ⚠
- p.Arg851Gln Multiple submitters cystic fibrosis ⚠
- p.Arg933Ser Multiple submitters cystic fibrosis ⚠
- p.Asn1148Lys Multiple submitters cystic fibrosis ⚠
- p.Asn1184Ile Multiple submitters cystic fibrosis ⚠
- p.Asn1303Thr Multiple submitters cystic fibrosis ⚠
- p.Asn1432Lys Multiple submitters CFTR-related disorder ⚠
- p.Asn187Ser Multiple submitters cystic fibrosis ⚠
- p.Asn287Lys Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Asn287Ser Multiple submitters cystic fibrosis ⚠
- p.Asn306Ser Multiple submitters cystic fibrosis ⚠
- p.Asn396Asp Multiple submitters cystic fibrosis ⚠
- p.Asn396Thr Multiple submitters cystic fibrosis ⚠
- p.Asn396Tyr Multiple submitters cystic fibrosis ⚠
- p.Asn416Ser Multiple submitters cystic fibrosis ⚠
- p.Asn418Ser Multiple submitters hereditary chronic pancreatitis ⚠
- p.Asn423Lys Multiple submitters cystic fibrosis ⚠
- p.Asn48His Multiple submitters cystic fibrosis ⚠
- p.Asn538del Multiple submitters cystic fibrosis
- p.Asn538Lys Multiple submitters cystic fibrosis ⚠
- p.Asn703Ile Multiple submitters cystic fibrosis ⚠
- p.Asn71Ser Multiple submitters cystic fibrosis ⚠
- p.Asn782Lys Multiple submitters cystic fibrosis ⚠
- p.Asn801Lys Multiple submitters cystic fibrosis ⚠
- p.Asn801Ser Multiple submitters cystic fibrosis ⚠
- p.Asn847Ser Multiple submitters cystic fibrosis ⚠
- p.Asn894Ser Multiple submitters cystic fibrosis ⚠
- p.Asn894Thr Multiple submitters cystic fibrosis ⚠
- p.Asn965Lys Multiple submitters cystic fibrosis
- p.Asp112Gly Multiple submitters cystic fibrosis ⚠
- p.Asp1154Asn Multiple submitters cystic fibrosis ⚠
- p.Asp1168Gly Multiple submitters cystic fibrosis ⚠
- p.Asp1201Tyr Multiple submitters cystic fibrosis ⚠
- p.Asp1305Glu Multiple submitters cystic fibrosis ⚠
- p.Asp1312Gly Multiple submitters congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Asp1312Tyr Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Asp1370Gly Multiple submitters cystic fibrosis ⚠
- p.Asp1370His Multiple submitters cystic fibrosis ⚠
- p.Asp1377Asn Multiple submitters cystic fibrosis ⚠
- p.Asp1425Asn Multiple submitters cystic fibrosis ⚠
- p.Asp1477Val Multiple submitters cystic fibrosis ⚠
- p.Asp373Asn Multiple submitters cystic fibrosis ⚠
- p.Asp44Val Multiple submitters cystic fibrosis ⚠
- p.Asp537Gly Multiple submitters CFTR-related disorder ⚠
- p.Asp565Glu Multiple submitters cystic fibrosis ⚠
- p.Asp572Gly Multiple submitters cystic fibrosis ⚠
- p.Asp58Val Multiple submitters cystic fibrosis ⚠
- p.Asp614Asn Multiple submitters CFTR-related disorder ⚠
- p.Asp614Glu Multiple submitters cystic fibrosis ⚠
- p.Asp651Asn Multiple submitters cystic fibrosis ⚠
- p.Asp651His Multiple submitters cystic fibrosis ⚠
- p.Asp674Val Multiple submitters cystic fibrosis ⚠
- p.Asp828Asn Multiple submitters cystic fibrosis ⚠
- p.Asp828Gly Multiple submitters cystic fibrosis ⚠
- p.Asp891Gly Multiple submitters hereditary chronic pancreatitis ⚠
- p.Asp924His Multiple submitters cystic fibrosis ⚠
- p.Asp984Asn Multiple submitters cystic fibrosis ⚠
- p.Cys1344Ser Multiple submitters congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Cys1355Phe Multiple submitters cystic fibrosis ⚠
- p.Cys1395Phe Multiple submitters cystic fibrosis ⚠
- p.Cys225Tyr Multiple submitters cystic fibrosis
- p.Cys343Arg Multiple submitters ⚠
- p.Cys491Phe Multiple submitters cystic fibrosis ⚠
- p.Cys491Ser Multiple submitters cystic fibrosis ⚠
- p.Cys592Tyr Multiple submitters cystic fibrosis ⚠
- p.Cys76Ser Multiple submitters cystic fibrosis ⚠
- p.Cys76Trp Multiple submitters cystic fibrosis ⚠
- p.Cys832Gly Multiple submitters ⚠
- p.Cys866Tyr Multiple submitters cystic fibrosis ⚠
- p.Gln1042Arg Multiple submitters cystic fibrosis ⚠
- p.Gln1238Arg Multiple submitters cystic fibrosis ⚠
- p.Gln1268Arg Multiple submitters cystic fibrosis ⚠
- p.Gln1281Pro Multiple submitters cystic fibrosis ⚠
- p.Gln1309Glu Multiple submitters cystic fibrosis ⚠
- p.Gln1313Lys Multiple submitters cystic fibrosis ⚠
- p.Gln1330Arg Multiple submitters cystic fibrosis ⚠
- p.Gln1330Glu Multiple submitters cystic fibrosis ⚠
- p.Gln1352Glu Multiple submitters cystic fibrosis
- p.Gln1382Lys Multiple submitters cystic fibrosis ⚠
- p.Gln1411Pro Multiple submitters cystic fibrosis ⚠
- p.Gln1423Arg Multiple submitters Cystic fibrosis diagnostic test ⚠
- p.Gln151Lys Multiple submitters CFTR-related disorder ⚠
- p.Gln179Lys Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Gln2Pro Multiple submitters cystic fibrosis ⚠
- p.Gln372Arg Multiple submitters cystic fibrosis ⚠
- p.Gln372Leu Multiple submitters cystic fibrosis ⚠
- p.Gln376Lys Multiple submitters cystic fibrosis ⚠
- p.Gln378Arg Multiple submitters cystic fibrosis ⚠
- p.Gln39His Multiple submitters cystic fibrosis ⚠
- p.Gln39Pro Multiple submitters cystic fibrosis ⚠
- p.Gln637Lys Multiple submitters cystic fibrosis ⚠
- p.Gln715His Multiple submitters cystic fibrosis ⚠
- p.Gln744Arg Multiple submitters cystic fibrosis ⚠
- p.Gln744Pro Multiple submitters cystic fibrosis ⚠
- p.Gln799Lys Multiple submitters cystic fibrosis ⚠
- p.Gln890Arg Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Glu1124del Multiple submitters bronchiectasis with or without elevated sweat chloride 1
- p.Glu1172Gln Multiple submitters cystic fibrosis ⚠
- p.Glu1228Gln Multiple submitters cystic fibrosis ⚠
- p.Glu1266Gly Multiple submitters cystic fibrosis ⚠
- p.Glu1321= Multiple submitters cystic fibrosis
- p.Glu1401Gly Multiple submitters cystic fibrosis ⚠
- p.Glu1417Asp Multiple submitters cystic fibrosis ⚠
- p.Glu1433Lys Multiple submitters cystic fibrosis ⚠
- p.Glu1473Lys Multiple submitters cystic fibrosis ⚠
- p.Glu257Gly Multiple submitters cystic fibrosis ⚠
- p.Glu279Asp Multiple submitters cystic fibrosis ⚠
- p.Glu282Asp Multiple submitters CFTR-related disorder ⚠
- p.Glu379Asp Multiple submitters cystic fibrosis ⚠
- p.Glu384Lys Multiple submitters cystic fibrosis ⚠
- p.Glu407Lys Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Glu407Val Multiple submitters cystic fibrosis ⚠
- p.Glu449Ala Multiple submitters cystic fibrosis ⚠
- p.Glu449Asp Multiple submitters cystic fibrosis ⚠
- p.Glu449Gly Multiple submitters cystic fibrosis ⚠
- p.Glu479Asp Multiple submitters CFTR-related disorder ⚠
- p.Glu514Asp Multiple submitters cystic fibrosis ⚠
- p.Glu514Gly Multiple submitters CFTR-related disorder ⚠
- p.Glu528Lys Multiple submitters CFTR-related disorder ⚠
- p.Glu588Gly Multiple submitters cystic fibrosis ⚠
- p.Glu588Lys Multiple submitters cystic fibrosis ⚠
- p.Glu60Asp Multiple submitters cystic fibrosis ⚠
- p.Glu656Gln Multiple submitters cystic fibrosis ⚠
- p.Glu664Gln Multiple submitters cystic fibrosis ⚠
- p.Glu672del Multiple submitters cystic fibrosis
- p.Glu672Lys Multiple submitters cystic fibrosis ⚠
- p.Glu692Asp Multiple submitters cystic fibrosis ⚠
- p.Glu804Lys Multiple submitters cystic fibrosis ⚠
- p.Glu823Asp Multiple submitters CFTR-related disorder ⚠
- p.Glu826Lys Multiple submitters cystic fibrosis ⚠
- p.Glu831Asp Multiple submitters cystic fibrosis ⚠
- p.Gly1047Cys Multiple submitters cystic fibrosis
- p.Gly1125Glu Multiple submitters cystic fibrosis ⚠
- p.Gly1127Glu Multiple submitters congenital bilateral aplasia of vas deferens from CFTR mutation ⚠
- p.Gly1130Ala Multiple submitters cystic fibrosis ⚠
- p.Gly1223Arg Multiple submitters cystic fibrosis ⚠
- p.Gly1237Asp Multiple submitters cystic fibrosis ⚠
- p.Gly124= Multiple submitters cystic fibrosis
- p.Gly1241Asp Multiple submitters cystic fibrosis ⚠
- p.Gly1247Glu Multiple submitters cystic fibrosis ⚠
- p.Gly1265Val Multiple submitters cystic fibrosis ⚠
- p.Gly126Ala Multiple submitters cystic fibrosis ⚠
- p.Gly126Val Multiple submitters cystic fibrosis ⚠
- p.Gly1271Ser Multiple submitters cystic fibrosis ⚠
- p.Gly1287Arg Multiple submitters cystic fibrosis ⚠
- p.Gly1298Val Multiple submitters cystic fibrosis ⚠
- p.Gly1343Ser Multiple submitters cystic fibrosis ⚠
- p.Gly1349Ser Multiple submitters cystic fibrosis ⚠
- p.Gly213Glu Multiple submitters bronchiectasis with or without elevated sweat chloride 1 ⚠
- p.Gly213Val Multiple submitters cystic fibrosis ⚠
- p.Gly228Cys Multiple submitters cystic fibrosis ⚠
- p.Gly239Arg Multiple submitters cystic fibrosis ⚠
- p.Gly241Arg Multiple submitters cystic fibrosis ⚠
- p.Gly241Trp Multiple submitters cystic fibrosis ⚠
- p.Gly253Arg Multiple submitters cystic fibrosis ⚠
- p.Gly314Ala Multiple submitters cystic fibrosis
- p.Gly314Val Multiple submitters cystic fibrosis ⚠
- p.Gly404Val Multiple submitters cystic fibrosis ⚠
- p.Gly406Glu Multiple submitters cystic fibrosis ⚠
- p.Gly424Ser Multiple submitters cystic fibrosis ⚠
- p.Gly437Asp Multiple submitters cystic fibrosis ⚠
- p.Gly542Glu Multiple submitters cystic fibrosis ⚠
- p.Gly673Arg Multiple submitters cystic fibrosis ⚠
- p.Gly723Val Multiple submitters cystic fibrosis ⚠