| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC113219472, LOC113633876 +131 more | Copy number loss | Autism spectrum disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999373, LOC129999374 +492 more | Copy number loss | See cases | |
| | CFTR, CFTR-AS1 +1 more (S466* +1 more) | Single nucleotide variant (nonsense +1 more) | Cystic fibrosis | |
| | | Deletion (inframe_deletion +1 more) | Cystic fibrosis | |
| | | Deletion (splice acceptor variant +1 more) | Cystic fibrosis | |
| | | Deletion (splice acceptor variant +1 more) | Cystic fibrosis | |
| | | Indel (splice acceptor variant +1 more) | Cystic fibrosis | |
| | | Deletion (splice acceptor variant +1 more) | Cystic fibrosis | |
| | | Deletion (intron variant) | not specified | |
| | | Indel (splice acceptor variant +1 more) | Cystic fibrosis | |
| | | Deletion (splice acceptor variant +1 more) | Cystic fibrosis | |
| | | Indel (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | CFTR-related disorder +1 more | |
| | | Deletion (intron variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Bronchiectasis with or without elevated sweat chloride 1 | |
| | | Microsatellite (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (L997F) | Single nucleotide variant (missense variant) | Obstructive azoospermia +4 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (L998I) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (L998fs) | Deletion (frameshift variant) | Cystic fibrosis +1 more | GPathogenic/Likely pathogenic |
| | LOC111674472, CFTR (L998F) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (L998F) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (L998fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674472 (I1000fs) | Deletion (frameshift variant) | Cystic fibrosis +1 more | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | CFTR, LOC111674472 (I1000fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (V1001fs) | Microsatellite (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (V1001M) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (I1002T) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (G1003R) | Single nucleotide variant (missense variant) | not provided | |
| | CFTR, LOC111674472 (G1003*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (G1003E) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | CFTR, LOC111674472 (A1004fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (A1006fs) | Duplication (frameshift variant) | Cystic fibrosis | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674472 (I1005V) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (I1005T) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (I1005R) | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +1 more | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674472 (A1006E) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (V1008fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (V1008fs) | Deletion (frameshift variant) | Bronchiectasis with or without elevated sweat chloride 1 +1 more | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674472 (V1008D) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (A1009S) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (A1009T) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (L1011*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Hereditary pancreatitis +1 more | |
| | CFTR, LOC111674472 (Q1012K) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (Q1012R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC111674472, CFTR (Y1014fs) | Duplication (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (P1013T) | Single nucleotide variant (missense variant) | not specified | |
| | CFTR, LOC111674472 (P1013S) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC111674472, CFTR (Y1014fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (P1013L) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | GConflicting classifications of pathogenicity |
| | LOC111674472, CFTR (P1013H) | Single nucleotide variant (missense variant) | Cystic fibrosis +4 more | GConflicting classifications of pathogenicity |
| | LOC111674472, CFTR (Y1014del) | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (I1015V) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (F1016S) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (P1021T) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC111674472, CFTR (P1021S) | Single nucleotide variant (missense variant) | Cystic fibrosis | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (P1021L) | Single nucleotide variant (missense variant) | Cystic fibrosis | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | CFTR, LOC111674472 (V1022M) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |