NBK1393 AND genereviews[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 937521	NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)	FLNA (E1803K +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 11775	NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)	FLNA	Single nucleotide variant (synonymous variant)	Frontometaphyseal dysplasia +4 more	GPathogenic
Select item 11759	NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	FLNA (S1199L)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GPathogenic/Likely pathogenic
Select item 11758	NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)	FLNA (A1188T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 21262	NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu)	FLNA (D1184E)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome	Gnot provided
Select item 11779	NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG	FLNA	Indel (splice acceptor variant +1 more)	Cardiac valvular dysplasia, X-linked	GPathogenic
Select item 11770	NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 11771	NM_001110556.2(FLNA):c.67_68del (p.Thr23fs)	FLNA (T23fs)	Microsatellite (frameshift variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	GPathogenic

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