"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NEXN"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163736	NM_144573.4(NEXN):c.511dup (p.Ile171fs)	NEXN (I107fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 948753	NM_144573.4(NEXN):c.1088C>G (p.Thr363Arg)	NEXN (T363R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +3 more	GUncertain significance
Select item 1693945	NM_144573.4(NEXN):c.1192A>C (p.Lys398Gln)	NEXN (K334Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 229054	NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)	NEXN (A472G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 3379766	NM_144573.4(NEXN):c.1508G>C (p.Ser503Thr)	NEXN (S439T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194130	NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)	NEXN (E528del +1 more)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 20 +6 more	GUncertain significance
Select item 201928	NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys)	NEXN (R539C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1163737	NM_144573.4(NEXN):c.1751_1757del (p.Phe584fs)	NEXN (F520fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 470681	NM_144573.4(NEXN):c.1997C>A (p.Thr666Asn)	NEXN (T666N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance