"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213511	NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)	FLNA, LOC107988032 (R2635C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2921110	NM_001110556.2(FLNA):c.7900G>A (p.Asp2634Asn)	FLNA, LOC107988032 (D2626N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811682	NM_001110556.2(FLNA):c.7812C>T (p.Ile2604=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 405458	NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr)	FLNA, LOC107988032 (C2601Y +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +4 more	GUncertain significance
Select item 167075	NM_001110556.2(FLNA):c.7756+8A>G	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +12 more	GBenign/Likely benign
Select item 197542	NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 213487	NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)	FLNA, LOC107988032 (P2542L +1 more)	Single nucleotide variant (missense variant)	FLNA-related condition +6 more	GConflicting classifications of pathogenicity
Select item 392335	NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	FLNA, LOC107988032 (C2535Y +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +12 more	GConflicting classifications of pathogenicity
Select item 993548	NM_001110556.2(FLNA):c.7584C>T (p.His2528=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +5 more	GLikely benign