"Ambry Genetics"[submitter] AND "LOC129999273"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 512684	NM_001458.5(FLNC):c.2124C>T (p.Asp708=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 258132	NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)	FLNC, LOC129999273 (A709T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
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 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 2565505	NM_001458.5(FLNC):c.2131G>A (p.Gly711Ser)	FLNC, LOC129999273 (G711S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221710	NM_001458.5(FLNC):c.2133C>T (p.Gly711=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1786460	NM_001458.5(FLNC):c.2134T>G (p.Cys712Gly)	FLNC, LOC129999273 (C712G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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)	Myofibrillar myopathy 5 +5 more	GLikely benign
Select item 2450883	NM_001458.5(FLNC):c.2143G>A (p.Asp715Asn)	FLNC, LOC129999273 (D715N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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