| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC111674472, CFTR (M1101I) | Single nucleotide variant (missense variant) | Cystic fibrosis +3 more | |
| | | Deletion (inframe_deletion +1 more) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | CFTR, LOC111674472 (M1101R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | CFTR, LOC111674472 (M1101K) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome and related disorders +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 14 | |
| | LOC129930253, ZMPSTE24 (I19fs) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | BBS2-related condition +1 more | |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | DNAJC19-related condition +1 more | |