"Baylor Genetics"[submitter] AND "FLNA"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213498	NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)	FLNA, LOC107988032	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 638848	NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)	FLNA, LOC107988032 (V2616M +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +6 more	GUncertain significance
Select item 1030454	NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)	FLNA (H2124Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 561011	NM_001110556.2(FLNA):c.5872A>T (p.Met1958Leu)	FLNA (M1950L +1 more)	Single nucleotide variant (missense variant)	FLNA-related disorder	GUncertain significance
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 1031981	NM_001110556.2(FLNA):c.5162del (p.Val1721fs)	FLNA (V1721fs +1 more)	Deletion (frameshift variant)	Oto-palato-digital syndrome, type I	GPathogenic
Select item 1033846	NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala)	FLNA (V1666A +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 209154	NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	FLNA (G1576R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1030453	NM_001110556.2(FLNA):c.4381G>A (p.Gly1461Ser)	FLNA (G1461S)	Single nucleotide variant (missense variant)	FG syndrome 2	GUncertain significance
Select item 1033845	NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)	FLNA (R1296C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 2441890	NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)	FLNA (V1253E)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 533573	NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His)	FLNA (R1087H)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GConflicting classifications of pathogenicity
Select item 931351	NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)	FLNA (E642*)	Single nucleotide variant (nonsense)	Heterotopia, periventricular, X-linked dominant +1 more	GPathogenic/Likely pathogenic
Select item 589369	NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys)	FLNA (R467C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 1030401	NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)	FLNA (M450T)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1002985	NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn)	FLNA (S61N)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +3 more	GUncertain significance
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 625653	GRCh37/hg19 Xq28(chrX:153174571-153609996)	ARHGAP4, EMD +12 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic