"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252548	NM_001457.4(FLNB):c.808A>G (p.Met270Val)	FLNB (M270V)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 1328248	NM_001457.4(FLNB):c.1203C>T (p.Thr401=)	FLNB	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GLikely benign
Select item 284044	NM_001457.4(FLNB):c.2493C>T (p.Pro831=)	FLNB, LOC129936935	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 258110	NM_001457.4(FLNB):c.4173A>G (p.Ala1391=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 380481	NM_001457.4(FLNB):c.4222+8A>G	FLNB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 283851	NM_001457.4(FLNB):c.4872C>T (p.Ile1624=)	FLNB	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 498495	NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 258116	NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)	FLNB (K2006R +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome +8 more	GBenign/Likely benign
Select item 288905	NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 288202	NM_001457.4(FLNB):c.6642C>T (p.Phe2214=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 288209	NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 516325	NM_001457.4(FLNB):c.6741G>A (p.Ser2247=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 258119	NM_001457.4(FLNB):c.6889-18G>A	FLNB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258120	NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)	FLNB (I2319T +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign