NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)Pathogenic
Melnick-Needles syndrome|not provided|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II
β
β
ββ2026β Residue 1188
NM_001110556.2(FLNA):c.257AGA[2] (p.Lys88del)Pathogenic
not provided|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II
β
β
ββ2026β Residue 88
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)Pathogenic
Melnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II|Melnick-Needles syndrome;Oto-palato-digital syndrome, type I;Oto-palato-digital syndrome, type II|not provided
β
β
ββ2025β Residue 1199
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)Pathogenic
Terminal osseous dysplasia-pigmentary defects syndrome|not provided|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant|Thyroid cancer, nonmedullary, 1|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025β Residue 1739
NM_001110556.2(FLNA):c.6245del (p.Leu2082fs)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025β Residue 2082
NM_001110556.2(FLNA):c.5417-2A>GLikely pathogenic
Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II|not provided
β
β
ββ2025
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)Pathogenic
Cardiac valvular dysplasia, X-linked|Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant|not provided
β
β
ββ2025β Residue 1576
NM_001110556.2(FLNA):c.2020_2021del (p.Arg674fs)Pathogenic
FLNA related lung disease|Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant
β
β
ββ2025β Residue 674
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)Pathogenic
not provided|Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia;Melnick-Needles syndrome
β
β
ββ2025β Residue 2419
NM_001110556.2(FLNA):c.5162del (p.Val1721fs)Pathogenic
Oto-palato-digital syndrome, type I|FLNA-related disorder
β
β
ββ2025β Residue 1721
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)Pathogenic
Frontometaphyseal dysplasia 1|not provided|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II|Oto-palato-digital syndrome, type II
β
β
ββ2025β Residue 1186
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)Pathogenic
not provided|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia
β
β
ββ2025β Residue 2242
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)Pathogenic
not provided|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II;Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia
β
β
ββ2025β Residue 2648
NM_001110556.2(FLNA):c.4598+1G>APathogenic
Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome|9 conditions
β
β
ββ2025
NM_001110556.2(FLNA):c.5930_5942del (p.Glu1977fs)Pathogenic
not provided|Periventricular nodular heterotopia
β
β
ββ2025β Residue 1977
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs)Likely pathogenic
Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome|not provided
β
β
ββ2025β Residue 2142
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)Pathogenic
Oto-palato-digital syndrome, type I|Cleft palate;Conductive hearing impairment;Short stature|not specified|Familial thoracic aortic aneurysm and aortic dissection|not provided|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II|FLNA-related disorder|Gastric cancer|Thyroid cancer, nonmedullary, 1
β
β
ββ2025β Residue 207
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)Pathogenic
Cardiac valvular dysplasia, X-linked|not provided|Familial thoracic aortic aneurysm and aortic dissection|Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome;Frontometaphyseal dysplasia
β
β
ββ2025β Residue 1554
NM_001110556.2(FLNA):c.2527dup (p.Ala843fs)Pathogenic
Heterotopia, periventricular, X-linked dominant|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025β Residue 843
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)Pathogenic
Cardiac valvular dysplasia, X-linked|Heterotopia, periventricular, X-linked dominant|Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II
β
β
ββ2024β Residue 288