"PreventionGenetics, part of Exact Sciences"[submitter] AND "NEBL"[gen - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633313	NM_006393.3(NEBL):c.2876A>G (p.Tyr959Cys)	NEBL (Y179C +6 more)	Single nucleotide variant (synonymous variant +1 more)	NEBL-related disorder	GUncertain significance
Select item 164735	NM_006393.3(NEBL):c.2820C>T (p.His940=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 178093	NM_006393.3(NEBL):c.2685C>T (p.Asp895=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 378267	NM_006393.3(NEBL):c.2673A>G (p.Thr891=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 45496	NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)	NEBL (S885F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 3046591	NM_006393.3(NEBL):c.2556C>T (p.Phe852=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	NEBL-related disorder	GLikely benign
Select item 45494	NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)	NEBL (I165V +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1445619	NM_006393.3(NEBL):c.2407G>A (p.Asp803Asn)	NEBL (D118N +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
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 45493	NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)	NEBL (T728A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 138509	NM_006393.3(NEBL):c.2149-5G>A	NEBL	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 698792	NM_006393.3(NEBL):c.2139C>T (p.Asn713=)	LOC126860875, NEBL	Single nucleotide variant (synonymous variant +1 more)	NEBL-related disorder +2 more	GLikely benign
Select item 45491	NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)	LOC126860875, NEBL (R694W)	Single nucleotide variant (missense variant +1 more)	NEBL-related disorder +3 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 +3 more	GBenign/Likely benign
Select item 702320	NM_006393.3(NEBL):c.2055G>A (p.Ala685=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	NEBL-related disorder +1 more	GLikely benign
Select item 417186	NM_006393.3(NEBL):c.2013G>A (p.Pro671=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	NEBL-related disorder +3 more	GLikely benign
Select item 378265	NM_006393.3(NEBL):c.1962+7A>G	NEBL	Single nucleotide variant (intron variant)	NEBL-related disorder +2 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)	Primary dilated cardiomyopathy +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)	Primary dilated cardiomyopathy +3 more	GLikely benign
Select item 381915	NM_006393.3(NEBL):c.1869+8C>G	NEBL	Single nucleotide variant (intron variant)	NEBL-related disorder +2 more	GBenign/Likely benign
Select item 45487	NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)	NEBL (I621V)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 201904	NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln)	NEBL (R613Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 45485	NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)	NEBL (A592E)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 178097	NM_006393.3(NEBL):c.1728T>C (p.Asp576=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 45484	NM_006393.3(NEBL):c.1671+9T>C	NEBL	Single nucleotide variant (intron variant)	NEBL-related disorder +2 more	GBenign
Select item 164752	NM_006393.3(NEBL):c.1450-9T>G	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 45475	NM_006393.3(NEBL):c.1132G>C (p.Asp378His)	NEBL (D378H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 45474	NM_006393.3(NEBL):c.1117-6T>G	NEBL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 178098	NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)	NEBL (Q370K)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 45472	NM_006393.3(NEBL):c.1051A>G (p.Met351Val)	NEBL (M351V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 164756	NM_006393.3(NEBL):c.1008+8C>G	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 164757	NM_006393.3(NEBL):c.1008+4C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 700783	NM_006393.3(NEBL):c.993C>T (p.Ala331=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	NEBL-related disorder +2 more	GBenign/Likely benign
Select item 45500	NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)	NEBL (A219D)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign
Select item 164761	NM_006393.3(NEBL):c.624C>T (p.Pro208=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign
Select item 45499	NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)	NEBL (G202R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 227738	NM_006393.3(NEBL):c.489T>C (p.Tyr163=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 45498	NM_006393.3(NEBL):c.480+3A>G	NEBL	Single nucleotide variant (intron variant)	NEBL-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 178101	NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)	NEBL (Y89*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 3048372	NM_006393.3(NEBL):c.259-9_259-8dup	NEBL	Duplication (intron variant)	NEBL-related disorder	GLikely benign
Select item 45495	NM_213569.2(NEBL):c.357+73449dup	NEBL	Duplication (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 2182745	NM_006393.3(NEBL):c.242del (p.Gly81fs)	NEBL (G81fs)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 164769	NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)	NEBL (K64R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign
Select item 45486	NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)	NEBL (K60N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 45478	NM_006393.3(NEBL):c.120A>G (p.Glu40=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GBenign/Likely benign
Select item 45473	NM_006393.3(NEBL):c.109T>C (p.Leu37=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 45476	NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)	NEBL (P4L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 164773	NM_213569.2(NEBL):c.357T>C (p.Asn119=)	NEBL	Single nucleotide variant (synonymous variant)	NEBL-related disorder +2 more	GBenign/Likely benign
Select item 48638	NM_213569.2(NEBL):c.-7C>T	NEBL	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign

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Items: 49