| | | Copy number gain | See cases | |
| | C2orf48, C2orf50 +893 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806252, LOC126806253 +2457 more | Copy number gain | See cases | |
| | TRY-GTA2-1, UBXN2A +321 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | KCNK3-related disorder | |
| | | Deletion (frameshift variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Duplication (inframe_insertion) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (intron variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (intron variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (intron variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (intron variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (intron variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | KCNK3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Deletion (nonsense) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | KCNK3-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Indel (missense variant) | Pulmonary arterial hypertension | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 | |
| | | Duplication (inframe_insertion) | Pulmonary hypertension, primary, 4 | |
| | | Single nucleotide variant (synonymous variant) | Pulmonary hypertension, primary, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 4 | |