"Blueprint Genetics"[submitter] AND "NEBL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222752	NM_006393.3(NEBL):c.2616G>T (p.Lys872Asn)	NEBL (K872N)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac death +1 more	GUncertain significance
Select item 222751	NM_006393.3(NEBL):c.1255G>T (p.Glu419Ter)	NEBL (E419*)	Single nucleotide variant (nonsense +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 222750	NM_006393.3(NEBL):c.658G>A (p.Val220Met)	NEBL (V220M)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 180455	NM_006393.3(NEBL):c.503A>T (p.Gln168Leu)	NEBL (Q168L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 178101	NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)	NEBL (Y89*)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome +6 more	GConflicting classifications of pathogenicity
Select item 180454	NM_213569.2(NEBL):c.305C>T (p.Thr102Met)	NEBL (T102M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar