C0340427[trait identifier] AND "Center for Human Genetics, University - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 451748	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN, TTN-AS1 (E28483* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GPathogenic/Likely pathogenic
Select item 1710093	NM_001458.5(FLNC):c.404G>A (p.Trp135Ter)	FLNC (W135*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710100	NM_001458.5(FLNC):c.617G>A (p.Trp206Ter)	FLNC (W206*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710101	NM_001458.5(FLNC):c.2405del (p.Gly802fs)	FLNC (G802fs)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710102	NM_001458.5(FLNC):c.3908dup (p.Tyr1303Ter)	FLNC (Y1303*)	Duplication (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710103	NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)	FLNC (Q1315*)	Single nucleotide variant (nonsense)	Dilated Cardiomyopathy, Dominant +4 more	GPathogenic
Select item 620373	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC (R1341*)	Single nucleotide variant (nonsense)	FLNC-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 1710104	NM_001458.5(FLNC):c.4346C>G (p.Ser1449Ter)	FLNC (S1449*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710105	NM_001458.5(FLNC):c.4581-2A>G	FLNC	Single nucleotide variant (splice acceptor variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710106	NM_001458.5(FLNC):c.4584dup (p.Phe1529fs)	FLNC (F1529fs)	Duplication (frameshift variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710094	NM_001458.5(FLNC):c.5142C>A (p.Tyr1714Ter)	FLNC (Y1714*)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710095	NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)	FLNC, FLNC-AS1 (Q1802* +1 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 1710096	NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)	FLNC, FLNC-AS1 (Q2215* +1 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 1710097	NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)	FLNC, FLNC-AS1 (Q2270* +1 more)	Single nucleotide variant (nonsense)	Dilated Cardiomyopathy, Dominant +4 more	GPathogenic
Select item 1710098	NM_001458.5(FLNC):c.7316_7317del (p.Val2439fs)	FLNC-AS1, FLNC (V2406fs +1 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 1710099	NM_001458.5(FLNC):c.7581del (p.Ile2527fs)	FLNC, FLNC-AS1 (I2494fs +1 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 12198	NM_014000.3(VCL):c.829C>A (p.Leu277Met)	VCL (L277M)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity