ClinVar for Gene (Select 10529) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358219	NM_006393.3(NEBL):c.1172del (p.Asp390_Leu391insTer)	NEBL	Deletion (nonsense +2 more)	NEBL-related disorder	GUncertain significance
Select item 3353724	NM_006393.3(NEBL):c.2171G>A (p.Gly724Glu)	NEBL (G724E)	Single nucleotide variant (missense variant +1 more)	NEBL-related disorder	GUncertain significance
Select item 3346402	NM_213569.2(NEBL):c.294C>T (p.Phe98=)	NEBL	Single nucleotide variant (synonymous variant)	NEBL-related disorder	GLikely benign
Select item 3299121	NM_006393.3(NEBL):c.797A>T (p.Asn266Ile)	NEBL (N266I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299120	NM_006393.3(NEBL):c.644A>G (p.Asp215Gly)	NEBL (D215G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299118	NM_006393.3(NEBL):c.1620G>C (p.Met540Ile)	NEBL (M540I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299117	NM_006393.3(NEBL):c.1156A>G (p.Arg386Gly)	NEBL (R386G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299116	NM_006393.3(NEBL):c.2081G>A (p.Arg694Gln)	LOC126860875, NEBL (R694Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3299115	NM_006393.3(NEBL):c.2535C>T (p.Arg845=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3299114	NM_006393.3(NEBL):c.1521T>A (p.Asp507Glu)	NEBL (D507E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299113	NM_006393.3(NEBL):c.2375C>A (p.Thr792Lys)	NEBL (T792K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299112	NM_006393.3(NEBL):c.403G>A (p.Gly135Arg)	NEBL (G135R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299110	NM_006393.3(NEBL):c.765G>A (p.Arg255=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3299108	NM_006393.3(NEBL):c.766C>A (p.Gln256Lys)	NEBL (Q256K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299107	NM_006393.3(NEBL):c.112A>C (p.Ser38Arg)	NEBL (S38R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244808	NC_000010.10:g.(?_21074676)_(21186134_?)dup	NEBL	Duplication	Primary dilated cardiomyopathy	GUncertain significance
Select item 3244807	NC_000010.10:g.(?_21120105)_(21120532_?)del	NEBL	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3244804	NC_000010.10:g.(?_21185867)_(21186134_?)del	NEBL	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3244803	NC_000010.10:g.(?_21098715)_(21098847_?)del	NEBL	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3234014	NM_006393.3(NEBL):c.1734T>C (p.Pro578=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3225583	NM_006393.3(NEBL):c.657C>T (p.Ala219=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225582	NM_006393.3(NEBL):c.631A>T (p.Ile211Phe)	NEBL (I211F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225581	NM_006393.3(NEBL):c.561G>A (p.Gln187=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225580	NM_006393.3(NEBL):c.511C>T (p.His171Tyr)	NEBL (H171Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225579	NM_006393.3(NEBL):c.441G>T (p.Glu147Asp)	NEBL (E147D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225578	NM_006393.3(NEBL):c.441G>A (p.Glu147=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225577	NM_006393.3(NEBL):c.381G>A (p.Lys127=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225576	NM_006393.3(NEBL):c.362A>G (p.Gln121Arg)	NEBL (Q121R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225575	NM_006393.3(NEBL):c.297T>C (p.Asn99=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225574	NM_006393.3(NEBL):c.2958T>A (p.Pro986=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3225573	NM_006393.3(NEBL):c.2956C>T (p.Pro986Ser)	NEBL (P206S +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3225572	NM_006393.3(NEBL):c.2945T>C (p.Val982Ala)	NEBL (V202A +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3225571	NM_006393.3(NEBL):c.2623C>A (p.His875Asn)	NEBL (H875N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225570	NM_006393.3(NEBL):c.2594G>C (p.Ser865Thr)	NEBL (S202T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225569	NM_006393.3(NEBL):c.2450G>A (p.Ser817Asn)	NEBL (S118N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225568	NM_006393.3(NEBL):c.236A>G (p.Asn79Ser)	NEBL (N79S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225567	NM_006393.3(NEBL):c.236A>C (p.Asn79Thr)	NEBL (N79T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225565	NM_006393.3(NEBL):c.216T>C (p.Pro72=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225564	NM_006393.3(NEBL):c.2142C>A (p.Ile714=)	LOC126860875, NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225563	NM_006393.3(NEBL):c.2056G>A (p.Val686Ile)	LOC126860875, NEBL (V686I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225562	NM_006393.3(NEBL):c.1778T>C (p.Val593Ala)	NEBL (V593A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225561	NM_006393.3(NEBL):c.1719C>T (p.Thr573=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225560	NM_006393.3(NEBL):c.170A>G (p.Glu57Gly)	NEBL (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225559	NM_006393.3(NEBL):c.1655C>A (p.Ser552Tyr)	NEBL (S552Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225558	NM_006393.3(NEBL):c.1582G>C (p.Glu528Gln)	NEBL (E528Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225557	NM_006393.3(NEBL):c.1568A>C (p.Tyr523Ser)	NEBL (Y523S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225556	NM_006393.3(NEBL):c.1442C>G (p.Ala481Gly)	NEBL (A481G)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3225555	NM_006393.3(NEBL):c.1427A>C (p.Lys476Thr)	NEBL (K476T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225554	NM_006393.3(NEBL):c.1403C>T (p.Thr468Ile)	NEBL (T468I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225553	NM_006393.3(NEBL):c.1398T>C (p.Thr466=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225552	NM_006393.3(NEBL):c.1380A>G (p.Lys460=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225551	NM_006393.3(NEBL):c.1270G>C (p.Gly424Arg)	NEBL (G424R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3225550	NM_006393.3(NEBL):c.1194A>G (p.Leu398=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225549	NM_006393.3(NEBL):c.1055T>C (p.Leu352Pro)	NEBL (L352P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190065	NM_006393.3(NEBL):c.729A>T (p.Lys243Asn)	NEBL (K243N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190042	NM_006393.3(NEBL):c.578G>A (p.Ser193Asn)	NEBL (S193N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190036	NM_006393.3(NEBL):c.483T>G (p.Ile161Met)	NEBL (I161M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190014	NM_006393.3(NEBL):c.264A>C (p.Lys88Asn)	NEBL (K88N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189985	NM_006393.3(NEBL):c.2173A>G (p.Arg725Gly)	NEBL (R725G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189975	NM_006393.3(NEBL):c.2035A>G (p.Asn679Asp)	NEBL (N679D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189962	NM_006393.3(NEBL):c.1939G>C (p.Glu647Gln)	NEBL (E647Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189955	NM_006393.3(NEBL):c.1764A>T (p.Gln588His)	NEBL (Q588H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189931	NM_006393.3(NEBL):c.1416G>T (p.Gln472His)	NEBL (Q472H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063158	GRCh37/hg19 10p12.31(chr10:21376811-21629890)x1	C10orf113, NEBL	Copy number loss	not specified	GUncertain significance
Select item 3048372	NM_006393.3(NEBL):c.259-9_259-8dup	NEBL	Duplication (intron variant)	NEBL-related disorder	GLikely 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 3022129	NM_006393.3(NEBL):c.1449+12G>A	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3020146	NM_006393.3(NEBL):c.1424A>G (p.Lys475Arg)	NEBL (K475R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3008887	NM_006393.3(NEBL):c.2481C>G (p.His827Gln)	NEBL (H145Q +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3008007	NM_006393.3(NEBL):c.1561-5T>C	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3004879	NM_006393.3(NEBL):c.369+1G>A	NEBL	Single nucleotide variant (intron variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3004436	NM_006393.3(NEBL):c.1785T>C (p.Tyr595=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2996341	NM_006393.3(NEBL):c.2433G>A (p.Lys811=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2996119	NM_006393.3(NEBL):c.2771T>A (p.Leu924His)	NEBL (L211H +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2991483	NM_006393.3(NEBL):c.153+1G>A	NEBL	Single nucleotide variant (intron variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2987330	NM_006393.3(NEBL):c.373G>A (p.Ala125Thr)	NEBL (A125T)	Single nucleotide variant (intron variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2984841	NM_006393.3(NEBL):c.1125C>T (p.Tyr375=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2983553	NM_006393.3(NEBL):c.505_526dup (p.Glu176fs)	NEBL (E176fs)	Duplication (intron variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2962402	NM_006393.3(NEBL):c.1869+10C>G	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2960477	NM_006393.3(NEBL):c.81+20C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2960241	NM_006393.3(NEBL):c.2196T>G (p.Thr732=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2958701	NM_006393.3(NEBL):c.1870-20T>G	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2957307	NM_006393.3(NEBL):c.2935G>A (p.Asp979Asn)	NEBL (D216N +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2956925	NM_006393.3(NEBL):c.858G>C (p.Leu286Phe)	NEBL (L286F)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2955082	NM_006393.3(NEBL):c.641C>T (p.Pro214Leu)	NEBL (P214L)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2954933	NM_006393.3(NEBL):c.1560+18T>C	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2919535	NM_006393.3(NEBL):c.903+18C>A	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2912079	NM_006393.3(NEBL):c.1228-4A>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2903176	NM_006393.3(NEBL):c.1671+20G>A	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2897937	NM_006393.3(NEBL):c.1672-15T>C	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2897932	NM_006393.3(NEBL):c.312G>T (p.Arg104=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2896591	NM_006393.3(NEBL):c.1212C>T (p.Thr404=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2894752	NM_006393.3(NEBL):c.1533T>G (p.Ala511=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2893217	NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala)	NEBL (D415A)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2891962	NM_006393.3(NEBL):c.2501G>A (p.Arg834Lys)	NEBL (R135K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2891871	NM_006393.3(NEBL):c.1618A>G (p.Met540Val)	NEBL (M540V)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2891330	NM_006393.3(NEBL):c.2032C>T (p.Arg678Ter)	NEBL (R678*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2885524	NM_006393.3(NEBL):c.2275G>C (p.Gly759Arg)	NEBL (G759R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2882369	NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr)	NEBL (A604T)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2882325	NM_006393.3(NEBL):c.1123del (p.Tyr375fs)	NEBL (Y375fs)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance

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