| | | Deletion (frameshift variant) | Heterotopia, periventricular, X-linked dominant +4 more | GPathogenic/Likely pathogenic |
| | FLNA, LOC107988032 (V2638del +1 more) | Deletion (inframe_deletion) | Melnick-Needles syndrome +3 more | |
| | FLNA, LOC107988032 (V2636L +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Needles syndrome +5 more | |
| | FLNA, LOC107988032 (R2643P +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +3 more | |
| | FLNA, LOC107988032 (R2635H +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (R2635G +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (R2635C +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +4 more | GConflicting classifications of pathogenicity |
| | FLNA, LOC107988032 (S2640I +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | FLNA, LOC107988032 (E2635K +1 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +5 more | |
| | FLNA, LOC107988032 (D2634Y +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (D2634H +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +3 more | |
| | FLNA, LOC107988032 (G2625del +1 more) | Deletion (inframe_deletion) | Heterotopia, periventricular, X-linked dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (W2624C +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +3 more | |
| | FLNA, LOC107988032 (W2624L +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | FLNA, LOC107988032 (T2619R +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | FLNA, LOC107988032 (E2625fs +1 more) | Deletion (frameshift variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (G2616A +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (K2621R +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Needles syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Oto-palato-digital syndrome, type II +3 more | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Needles syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Frontometaphyseal dysplasia +5 more | |
| | FLNA, LOC107988032 (V2608A +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +4 more | |
| | FLNA, LOC107988032 (V2616M +1 more) | Single nucleotide variant (missense variant) | not specified +6 more | |
| | FLNA, LOC107988032 (S2607G +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (L2613V +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (R2604Q +1 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | FLNA, LOC107988032 (R2612W +1 more) | Single nucleotide variant (missense variant) | Cardiac valvular dysplasia, X-linked +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | FLNA, LOC107988032 (H2608Y +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +4 more | |
| | FLNA, LOC107988032 (V2598fs +1 more) | Deletion (frameshift variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Oto-palato-digital syndrome, type II +4 more | |
| | FLNA, LOC107988032 (C2601Y +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +4 more | |
| | FLNA, LOC107988032 (P2592T +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (T2591N +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Frontometaphyseal dysplasia +5 more | GConflicting classifications of pathogenicity |
| | FLNA, LOC107988032 (R2590K +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +3 more | |
| | LOC107988032, FLNA (P2597S +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (H2587P +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (V2586fs +1 more) | Microsatellite (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | FLNA, LOC107988032 (L2583del +1 more) | Microsatellite (inframe_deletion) | Frontometaphyseal dysplasia +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 | |
| | | Deletion (intron variant) | Frontometaphyseal dysplasia +3 more | |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 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 (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Melnick-Needles syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Oto-palato-digital syndrome, type II +5 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +12 more | |
| | | Single nucleotide variant (intron variant) | Melnick-Needles syndrome +3 more | |
| | | Single nucleotide variant (splice donor variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (V2580A +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (V2580I +1 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Melnick-Needles syndrome +4 more | |
| | FLNA, LOC107988032 (V2564A +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +3 more | |
| | FLNA, LOC107988032 (V2564I +1 more) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | FLNA, LOC107988032 (V2560A +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +5 more | |
| | | Single nucleotide variant (synonymous variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (S2550K +1 more) | Indel (missense variant) | Melnick-Needles syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Oto-palato-digital syndrome, type II +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (synonymous variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (A2547V +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +3 more | |
| | FLNA, LOC107988032 (P2554T +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Frontometaphyseal dysplasia +4 more | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Needles syndrome +4 more | |
| | FLNA, LOC107988032 (P2552L +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Frontometaphyseal dysplasia +3 more | |
| | FLNA, LOC107988032 (G2543R +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | FLNA, LOC107988032 (P2542L +1 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | FLNA, LOC107988032 (A2541S +1 more) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Melnick-Needles syndrome +3 more | |
| | FLNA, LOC107988032 (Q2538R +1 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | FLNA, LOC107988032 (Q2546* +1 more) | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | FLNA, LOC107988032 (Q2538E +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | LOC107988032, FLNA (P2537L +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (P2545A +1 more) | Single nucleotide variant (missense variant) | Melnick-Needles syndrome +3 more | |
| | FLNA, LOC107988032 (A2536D +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (A2544S +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
| | FLNA, LOC107988032 (C2543F +1 more) | Single nucleotide variant (missense variant) | Heterotopia, periventricular, X-linked dominant +3 more | |
| | FLNA, LOC107988032 (C2535Y +1 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +12 more | GConflicting classifications of pathogenicity |
| | FLNA, LOC107988032 (A2533V +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +4 more | |
| | FLNA, LOC107988032 (T2531I +1 more) | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |