"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584412	NC_000007.14:g.(?_128830618)_(128858543_?)del	FLNC, FLNC-AS1 +1 more	Deletion	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 2945032	NM_001458.5(FLNC):c.2122-18C>T	FLNC, LOC129999273	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GLikely benign
Select item 258130	NM_001458.5(FLNC):c.2122-17T>C	FLNC, LOC129999273	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1534569	NM_001458.5(FLNC):c.2122-9T>C	FLNC, LOC129999273	Single nucleotide variant (intron variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GLikely benign
Select item 834152	NM_001458.5(FLNC):c.2122-6C>G	FLNC, LOC129999273	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1006796	NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)	FLNC, LOC129999273 (D708E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 512684	NM_001458.5(FLNC):c.2124C>T (p.Asp708=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 2179000	NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)	FLNC, LOC129999273 (A709S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 258132	NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)	FLNC, LOC129999273 (A709T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 2941425	NM_001458.5(FLNC):c.2131_2145del (p.Gly711_Asp715del)	FLNC, LOC129999273	Deletion (inframe_deletion)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 1131509	NM_001458.5(FLNC):c.2127C>T (p.Ala709=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 471997	NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)	FLNC, LOC129999273 (D710N)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GConflicting classifications of pathogenicity
Select item 571429	NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu)	FLNC, LOC129999273 (D710E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 289074	NM_001458.5(FLNC):c.2130C>T (p.Asp710=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1099975	NM_001458.5(FLNC):c.2139C>G (p.Pro713=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +4 more	GLikely benign
Select item 2450910	NM_001458.5(FLNC):c.2140A>G (p.Ile714Val)	FLNC, LOC129999273 (I714V)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GConflicting classifications of pathogenicity
Select item 539445	NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr)	FLNC, LOC129999273 (I714T)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 1406727	NM_001458.5(FLNC):c.2142C>G (p.Ile714Met)	FLNC, LOC129999273 (I714M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 571749	NM_001458.5(FLNC):c.2142C>A (p.Ile714=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +5 more	GLikely benign
Select item 471996	NM_001458.5(FLNC):c.2142C>T (p.Ile714=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +5 more	GLikely benign
Select item 2943057	NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)	FLNC, LOC129999273 (I716fs)	Duplication (frameshift variant)	Myofibrillar myopathy 5 +3 more	GPathogenic
Select item 764381	NM_001458.5(FLNC):c.2145C>T (p.Asp715=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +3 more	GLikely benign
Select item 1522867	NM_001458.5(FLNC):c.2146A>G (p.Ile716Val)	FLNC, LOC129999273 (I716V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2116417	NM_001458.5(FLNC):c.2148C>T (p.Ile716=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +4 more	GBenign/Likely benign
Select item 2932623	NM_001458.5(FLNC):c.2149A>G (p.Lys717Glu)	FLNC, LOC129999273 (K717E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 2092909	NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)	FLNC, LOC129999273 (K717M)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 2936610	NM_001458.5(FLNC):c.2151G>A (p.Lys717=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +3 more	GLikely benign

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Items: 27