"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 392612	NM_006393.3(NEBL):c.2964C>T (p.Asp988=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 227736	NM_006393.3(NEBL):c.2775C>T (p.Pro925=)	NEBL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 45496	NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)	NEBL (S885F)	Single nucleotide variant (missense variant +1 more)	NEBL-related condition +3 more	GBenign/Likely benign
Select item 840911	NM_006393.3(NEBL):c.2612-6A>G	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 696373	NM_006393.3(NEBL):c.2519-2del	NEBL	Deletion (splice acceptor variant +1 more)	Primary dilated cardiomyopathy +1 more	GBenign
Select item 45494	NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)	NEBL (I165V +5 more)	Single nucleotide variant (missense variant)	NEBL-related condition +3 more	GBenign/Likely benign
Select item 201899	NM_006393.3(NEBL):c.2307T>C (p.Ala769=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 1297612	NM_006393.3(NEBL):c.1998G>A (p.Pro666=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 379214	NM_006393.3(NEBL):c.1775C>T (p.Ala592Val)	NEBL (A592V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45485	NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)	NEBL (A592E)	Single nucleotide variant (missense variant +1 more)	NEBL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 164752	NM_006393.3(NEBL):c.1450-9T>G	NEBL	Single nucleotide variant (intron variant)	NEBL-related condition +2 more	GBenign
Select item 45499	NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)	NEBL (G202R)	Single nucleotide variant (missense variant +1 more)	NEBL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 45498	NM_006393.3(NEBL):c.480+3A>G	NEBL	Single nucleotide variant (intron variant)	NEBL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 961243	NM_006393.3(NEBL):c.311G>A (p.Arg104Gln)	NEBL (R104Q)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 178101	NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)	NEBL (Y89*)	Single nucleotide variant (nonsense +1 more)	NEBL-related condition +7 more	GConflicting classifications of pathogenicity
Select item 45495	NM_213569.2(NEBL):c.357+73449dup	NEBL	Duplication (intron variant)	NEBL-related condition +2 more	GBenign
Select item 45473	NM_006393.3(NEBL):c.109T>C (p.Leu37=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 164775	NM_213569.2(NEBL):c.70-5dup	NEBL	Duplication (intron variant)	not provided	GBenign