"GeneDx"[submitter] AND "NEBL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57885	GRCh38/hg38 10p12.31(chr10:20776151-21435636)x3	C10orf113, LINC02643 +12 more	Copy number gain	See cases	GUncertain significance
Select item 1244881	NM_006393.3(NEBL):c.*221A>G	NEBL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 179556	NM_006393.3(NEBL):c.*4T>A	NEBL	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 45497	NM_006393.3(NEBL):c.2997A>G (p.Thr999=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 392612	NM_006393.3(NEBL):c.2964C>T (p.Asp988=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 452448	NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys)	NEBL (E228K +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 517956	NM_006393.3(NEBL):c.2889C>T (p.Tyr963=)	NEBL (R219*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GLikely benign
Select item 678109	NM_006393.3(NEBL):c.2869-232C>G	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671440	NM_006393.3(NEBL):c.2868+31G>T	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384455	NM_006393.3(NEBL):c.2868+9C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 164735	NM_006393.3(NEBL):c.2820C>T (p.His940=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +1 more	GBenign/Likely 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 1270787	NM_006393.3(NEBL):c.2762-48G>C	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674103	NM_006393.3(NEBL):c.2762-64T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671175	NM_006393.3(NEBL):c.2762-70G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671229	NM_006393.3(NEBL):c.2762-263T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669430	NM_006393.3(NEBL):c.2762-279del	NEBL	Deletion (intron variant)	not provided	GBenign
Select item 1265035	NM_006393.3(NEBL):c.2762-296G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317839	NM_006393.3(NEBL):c.2762-328A>C	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683678	NM_006393.3(NEBL):c.2761+318C>T	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683677	NM_006393.3(NEBL):c.2761+280T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678540	NM_006393.3(NEBL):c.2761+227C>G	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318352	NM_006393.3(NEBL):c.2761+160dup	NEBL	Duplication (intron variant)	not provided	GLikely benign
Select item 507183	NM_006393.3(NEBL):c.2761+15C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 373630	NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro)	NEBL (A921P)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 240648	NM_006393.3(NEBL):c.2724A>T (p.Ser908=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 373498	NM_006393.3(NEBL):c.2718C>A (p.Ser906Arg)	NEBL (S906R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 393248	NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys)	NEBL (E902K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 178093	NM_006393.3(NEBL):c.2685C>T (p.Asp895=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 378267	NM_006393.3(NEBL):c.2673A>G (p.Thr891=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 454271	NM_006393.3(NEBL):c.2667C>T (p.Phe889=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	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)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 201910	NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter)	NEBL (R882*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 383206	NM_006393.3(NEBL):c.2619G>A (p.Ala873=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 389340	NM_006393.3(NEBL):c.2612-11C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GBenign/Likely benign
Select item 1317917	NM_006393.3(NEBL):c.2612-27C>T	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672914	NM_006393.3(NEBL):c.2612-181T>C	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675869	NM_006393.3(NEBL):c.2611+87del	NEBL	Deletion (intron variant)	not provided	GLikely benign
Select item 1318367	NM_006393.3(NEBL):c.2611+60G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 227734	NM_006393.3(NEBL):c.2547C>T (p.Gly849=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 696373	NM_006393.3(NEBL):c.2519-2del	NEBL	Deletion (splice acceptor variant +1 more)	not provided +1 more	GBenign
Select item 672884	NM_006393.3(NEBL):c.2519-209G>T	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683676	NM_006393.3(NEBL):c.2518+275A>G	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381153	NM_006393.3(NEBL):c.2518+20C>T	NEBL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385393	NM_006393.3(NEBL):c.2518+14G>A	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 391195	NM_006393.3(NEBL):c.2518+10C>T	NEBL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 509046	NM_006393.3(NEBL):c.2484C>T (p.Ile828=)	NEBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 45494	NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)	NEBL (I165V +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 164741	NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)	NEBL (T143I +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 385095	NM_006393.3(NEBL):c.2412T>C (p.Pro804=)	NEBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 682173	NM_006393.3(NEBL):c.2406C>T (p.Asp802=)	NEBL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 417187	NM_006393.3(NEBL):c.2397C>T (p.Pro799=)	NEBL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 512366	NM_006393.3(NEBL):c.2347-9C>T	NEBL	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1225818	NM_006393.3(NEBL):c.2346+44G>C	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378266	NM_006393.3(NEBL):c.2346+19A>G	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 164743	NM_006393.3(NEBL):c.2346+6G>A	NEBL	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 201899	NM_006393.3(NEBL):c.2307T>C (p.Ala769=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 201905	NM_006393.3(NEBL):c.2271G>A (p.Met757Ile)	NEBL (M757I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318383	NM_006393.3(NEBL):c.2242-250T>G	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317996	NM_006393.3(NEBL):c.2242-278G>T	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683673	NM_006393.3(NEBL):c.2242-302G>T	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671875	NM_006393.3(NEBL):c.2242-307G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318429	NM_006393.3(NEBL):c.2242-316C>G	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318294	NM_006393.3(NEBL):c.2241+68C>T	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513990	NM_006393.3(NEBL):c.2241+17A>G	NEBL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 45493	NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)	NEBL (T728A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 138509	NM_006393.3(NEBL):c.2149-5G>A	NEBL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 507699	NM_006393.3(NEBL):c.2149-11T>C	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 671174	NM_006393.3(NEBL):c.2149-48T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671439	NM_006393.3(NEBL):c.2149-186C>T	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237015	NM_006393.3(NEBL):c.2148+280A>G	LOC126860875, NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676594	NM_006393.3(NEBL):c.2148+209A>G	LOC126860875, NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 164744	NM_006393.3(NEBL):c.2148+4T>C	LOC126860875, NEBL	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 201909	NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr)	LOC126860875, NEBL (P701T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 45491	NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)	LOC126860875, NEBL (R694W)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45490	NM_006393.3(NEBL):c.2057T>C (p.Val686Ala)	LOC126860875, NEBL (V686A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 672883	NM_006393.3(NEBL):c.2055+106G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227733	NM_006393.3(NEBL):c.2055+7C>A	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 227732	NM_006393.3(NEBL):c.2054C>T (p.Ala685Val)	NEBL (A685V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 45489	NM_006393.3(NEBL):c.2031G>A (p.Arg677=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 513142	NM_006393.3(NEBL):c.2016G>A (p.Glu672=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 417186	NM_006393.3(NEBL):c.2013G>A (p.Pro671=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 450413	NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu)	NEBL (P666L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 179499	NM_006393.3(NEBL):c.1963-13C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1318261	NM_006393.3(NEBL):c.1963-98G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265330	NM_006393.3(NEBL):c.1963-216CAA[7]	NEBL	Microsatellite (intron variant)	not provided	GBenign
Select item 671324	NM_006393.3(NEBL):c.1963-261A>G	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260826	NM_006393.3(NEBL):c.1962+279A>C	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678611	NM_006393.3(NEBL):c.1962+250G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673849	NM_006393.3(NEBL):c.1962+213T>C	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317805	NM_006393.3(NEBL):c.1962+203T>G	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671173	NM_006393.3(NEBL):c.1962+26T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508172	NM_006393.3(NEBL):c.1962+14T>G	NEBL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 378265	NM_006393.3(NEBL):c.1962+7A>G	NEBL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 45488	NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys)	NEBL (N654K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 178095	NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu)	NEBL (I652L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 391870	NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg)	NEBL (Q649R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1317577	NM_006393.3(NEBL):c.1870-29T>G	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671172	NM_006393.3(NEBL):c.1869+44A>G	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318085	NM_006393.3(NEBL):c.1869+29T>C	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign

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