"3billion"[submitter] AND "FLNB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38961	NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)	FLNB (G168S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1705319	NM_001457.4(FLNB):c.698del (p.Tyr233fs)	FLNB (Y233fs)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 392383	NM_001457.4(FLNB):c.1679A>G (p.His560Arg)	FLNB (H560R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392384	NM_001457.4(FLNB):c.4066G>A (p.Ala1356Thr)	FLNB (A1356T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2444317	NM_001457.4(FLNB):c.4570G>C (p.Gly1524Arg)	FLNB (G1524R +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 1333671	NM_001457.4(FLNB):c.4805C>A (p.Ser1602Tyr)	FLNB (S1602Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2572516	NM_001457.4(FLNB):c.5696T>A (p.Ile1899Asn)	FLNB (I1875N +3 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	GUncertain significance

ClinVar