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Gene entry

FLNA

filamin A

Chromosome
X
Cytoband
Xq28
Variants (rsID)
39

FLNA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “filamin A”. The reference table lists 39 variants (rsID) for this gene.

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Clinically classified variants

34 reference-table entries with clinical significance.

  • rs143873938Benignsingle nucleotide variantHeterotopia, periventricular, X-linked dominant|Cardiovascular phenotype|History of neurodevelopmental disorder|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II
  • rs200615848Benignsingle nucleotide variantCardiovascular phenotype|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Aortic aneurysm, familial thoracic 2
  • rs200787122Benignsingle nucleotide variantCardiovascular phenotype|Connective tissue disorder|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II
  • rs201093148Benignsingle nucleotide variantOto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Melnick-Needles syndrome
  • rs201656372Benignsingle nucleotide variantMelnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia|Cardiovascular phenotype|History of neurodevelopmental disorder
  • rs57108893Benignsingle nucleotide variantHeterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Cardiovascular phenotype|History of neurodevelopmental disorder
  • rs182074603Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Heterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II
  • rs199565118Conflicting interpretationssingle nucleotide variantConnective tissue disorder|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II
  • rs199911951Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Heterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia
  • rs200048692Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Connective tissue disorder|History of neurodevelopmental disorder|Melnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia
  • rs200053635Conflicting interpretationssingle nucleotide variantFLNA-related disorder|Cardiovascular phenotype|Connective tissue disorder|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Disorder of sexual differentiation
  • rs200130356Conflicting interpretationssingle nucleotide variantHeterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Aortic dilatation|Cardiovascular phenotype|Connective tissue disorder|History of neurodevelopmental disorder
  • rs200363918Conflicting interpretationssingle nucleotide variantOto-palato-digital syndrome, type II|Melnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia
  • rs200660642Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Connective tissue disorder|History of neurodevelopmental disorder|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome
  • rs202029322Conflicting interpretationssingle nucleotide variantConnective tissue disorder|Cardiovascular phenotype|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Chronic lung disease
  • rs370196495Conflicting interpretationssingle nucleotide variantMelnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II
  • rs370735674Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II
  • rs371501734Conflicting interpretationssingle nucleotide variantHeterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia
  • rs398123615Conflicting interpretationssingle nucleotide variantHeterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II
  • rs587780335Conflicting interpretationssingle nucleotide variantMelnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II
  • rs61730768Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Melnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia
  • rs782168634Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II|Melnick-Needles syndrome
  • rs782670288Conflicting interpretationssingle nucleotide variantOto-palato-digital syndrome, type II|Melnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia
  • rs200673062Likely benignsingle nucleotide variantOto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Melnick-Needles syndrome|Microcephaly
  • rs370490152Likely pathogenicsingle nucleotide variantHeterotopia, periventricular, X-linked dominant
  • rs137853310Pathogenicsingle nucleotide variantHeterotopia, periventricular, X-linked dominant
  • rs137853312Pathogenicsingle nucleotide variantFrontometaphyseal dysplasia 1|Oto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II|Melnick-Needles syndrome
  • rs137853318Pathogenicsingle nucleotide variantOto-palato-digital syndrome, type II
  • rs186214592Pathogenicsingle nucleotide variant
  • rs267606815Pathogenicsingle nucleotide variantCardiac valvular dysplasia, X-linked
  • rs28935470Pathogenicsingle nucleotide variantOto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant|Frontometaphyseal dysplasia|Oto-palato-digital syndrome, type II|Melnick-Needles syndrome
  • rs28935473Pathogenicsingle nucleotide variantMelnick-Needles syndrome|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia|Melnick-Needles syndrome|Oto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant
  • rs786205178PathogenicDeletionHeterotopia, periventricular, X-linked dominant
  • rs200836471Uncertain significancesingle nucleotide variantMelnick-Needles syndrome|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.