C3279722[trait identifier] AND "Phosphorus, Inc."[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 843171	NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln)	FLNC (R1354Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 810192	NM_001458.5(FLNC):c.4134G>A (p.Ala1378=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 472062	NM_001458.5(FLNC):c.4140C>T (p.Thr1380=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 539450	NM_001458.5(FLNC):c.4413A>T (p.Gln1471His)	FLNC (Q1471H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 488164	NM_001458.5(FLNC):c.4566G>T (p.Gln1522His)	FLNC (Q1522H)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GUncertain significance
Select item 290237	NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys)	FLNC (R1526C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 707521	NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)	FLNC, FLNC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 1138049	NM_001458.5(FLNC):c.6123C>T (p.Ala2041=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GLikely benign
Select item 385717	NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)	FLNC, FLNC-AS1 (V2059M +1 more)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +7 more	GBenign/Likely benign
Select item 539468	NM_001458.5(FLNC):c.6864C>T (p.Val2288=)	FLNC, FLNC-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1339285	NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys)	FLNC, FLNC-AS1 (N2499K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 258153	NM_001458.5(FLNC):c.7947C>T (p.Phe2649=)	FLNC-AS1, FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +9 more	GBenign/Likely benign