"Blueprint Genetics"[submitter] AND "FLNC-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 539412	NM_001458.5(FLNC):c.5686G>A (p.Val1896Met)	FLNC, FLNC-AS1 (V1896M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 450485	NM_001458.5(FLNC):c.5759C>T (p.Pro1920Leu)	FLNC, FLNC-AS1 (P1920L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636849	NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn)	FLNC, FLNC-AS1 (I1937N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 636794	NM_001458.5(FLNC):c.7133C>T (p.Pro2378Leu)	FLNC, FLNC-AS1 (P2378L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636749	NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)	FLNC, FLNC-AS1 (A2427V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 636616	NM_001458.5(FLNC):c.7561+1G>A	FLNC, FLNC-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 636988	NM_001458.5(FLNC):c.7687T>C (p.Tyr2563His)	FLNC-AS1, FLNC (Y2563H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

ClinVar