| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | FLNA, LOC107988032 (Y2606C +1 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Melnick-Needles syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Melnick-Needles syndrome +3 more | |
| | | Duplication | Melnick-Needles syndrome +3 more | |
| | | Duplication | Melnick-Needles syndrome +3 more | |
| | | Deletion | Melnick-Needles syndrome +3 more | |
| | ATP6AP1, DNASE1L1 +13 more | Duplication | 3-Methylglutaconic aciduria type 2 | |
| | | Deletion | Dyskeratosis congenita +6 more | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Copy number loss | See cases | |
| | SLITRK2, SLITRK4 +221 more | Copy number loss | not provided | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | FLNA-related disorder | |
| | | Single nucleotide variant (missense variant) | FLNA-related disorder | |
| | | Single nucleotide variant (intron variant) | FLNA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | FLNA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | FLNA-related disorder | |
| | | Single nucleotide variant (missense variant) | FLNA-related disorder | |
| | | Single nucleotide variant (intron variant) | FLNA-related disorder | |
| | | Single nucleotide variant (missense variant) | FLNA-related disorder | |
| | | Single nucleotide variant (missense variant) | FLNA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | FLNA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | FLNA-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Microsatellite (inframe_deletion) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (splice donor variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Deletion (frameshift variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (S2550K +1 more) | Indel (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Microsatellite (frameshift variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |