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Gene: FLNA & Disease: PBS, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
800568	FLNA	c.6479G>A	p.Cys2160Tyr (p.C2160Y)	NM_001110556.2 M	SNV	LP	1 +	1
800569	FLNA	c.6707G>A	p.Gly2236Glu (p.G2236E)	NM_001110556.2 M	SNV	VUS	1 +	1
801015	FLNA	c.6707G>T	p.Gly2236Val (p.G2236V)	NM_001110556.2 M	SNV	LP	1 +	1
800568	FLNA	c.6455G>A	p.Cys2152Tyr (p.C2152Y)	NM_001456.4	SNV	LP	1 +	1
800569	FLNA	c.6683G>A	p.Gly2228Glu (p.G2228E)	NM_001456.4	SNV	VUS	1 +	1
801015	FLNA	c.6683G>T	p.Gly2228Val (p.G2228V)	NM_001456.4	SNV	LP	1 +	1

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