ClinVar for MedGen (Select 934715) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506588	NM_001458.5(FLNC):c.4927+1del	FLNC	Deletion (splice donor variant)	Cardiomyopathy, familial restrictive, 5	GPathogenic
Select item 253127	NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe)	FLNC, FLNC-AS1 (I2160F +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 253126	NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)	FLNC (S1624L)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity

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