| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | CD9, LOC112163621 +19 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TNF receptor-associated periodic fever syndrome (TRAPS) +3 more | GConflicting classifications of pathogenicity |
| | LOC130007233, SCNN1A +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | TNF receptor-associated periodic fever syndrome (TRAPS) +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TNF receptor-associated periodic fever syndrome (TRAPS) +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Microsatellite (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SCNN1A-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Liddle syndrome 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Bronchiectasis with or without elevated sweat chloride 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive pseudohypoaldosteronism type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive pseudohypoaldosteronism type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive pseudohypoaldosteronism type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Bronchiectasis with or without elevated sweat chloride 2 | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Bronchiectasis with or without elevated sweat chloride 2 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive pseudohypoaldosteronism type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Liddle syndrome 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |