C0878544[trait identifier] AND "CHEO Genetics Diagnostic Laboratory, C - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 5274

<< First< Prev

Page of 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691225	NM_144573.4(NEXN):c.43T>C (p.Ser15Pro)	NEXN (S15P)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1329339	NM_144573.4(NEXN):c.52G>A (p.Val18Ile)	NEXN (V18I)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 626384	NM_144573.4(NEXN):c.60A>C (p.Lys20Asn)	NEXN (K20N)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 470683	NM_144573.4(NEXN):c.78T>C (p.Leu26=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1CC +5 more	GBenign/Likely benign
Select item 226849	NM_144573.4(NEXN):c.156C>T (p.Asp52=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 626385	NM_144573.4(NEXN):c.166_169del (p.Arg56fs)	NEXN (R56fs)	Deletion (frameshift variant +1 more)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1409607	NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)	NEXN (W67*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 626386	NM_144573.4(NEXN):c.216G>A (p.Gln72=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 178102	NM_144573.4(NEXN):c.249G>A (p.Glu83=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +5 more	GConflicting classifications of pathogenicity
Select item 626387	NM_144573.4(NEXN):c.257T>C (p.Val86Ala)	NEXN (V86A +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 47904	NM_144573.4(NEXN):c.299-3T>C	NEXN, LOC126805765	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +3 more	GUncertain significance
Select item 2442880	NM_144573.4(NEXN):c.337A>G (p.Arg113Gly)	LOC126805765, NEXN (R113G +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 47905	NM_144573.4(NEXN):c.341_342del (p.Gln114fs)	LOC126805765, NEXN (Q50fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 47906	NM_144573.4(NEXN):c.363G>A (p.Thr121=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 915602	NM_144573.4(NEXN):c.373C>T (p.Arg125Ter)	NEXN, LOC126805765 (R125* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1CC +2 more	GConflicting classifications of pathogenicity
Select item 806155	NM_144573.4(NEXN):c.380G>A (p.Arg127His)	LOC126805765, NEXN (R127H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +3 more	GConflicting classifications of pathogenicity
Select item 1329338	NM_144573.4(NEXN):c.408G>A (p.Lys136=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 700113	NM_144573.4(NEXN):c.492A>G (p.Glu164=)	NEXN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 201917	NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)	NEXN (I171T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 626388	NM_144573.4(NEXN):c.535T>C (p.Tyr179His)	NEXN (Y179H +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 179003	NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)	NEXN (R196C +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 47908	NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)	NEXN (E205K +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 520305	NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)	NEXN (D207G +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1329340	NM_144573.4(NEXN):c.685A>G (p.Met229Val)	NEXN (M165V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 241866	NM_144573.4(NEXN):c.687+4A>T	NEXN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 626630	NM_144573.4(NEXN):c.732C>T (p.Pro244=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 47910	NM_144573.4(NEXN):c.732C>A (p.Pro244=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +4 more	GBenign/Likely benign
Select item 1329341	NM_144573.4(NEXN):c.817del (p.Arg273fs)	NEXN (R209fs +1 more)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 538110	NM_144573.4(NEXN):c.818G>A (p.Arg273His)	NEXN (R273H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1329342	NM_144573.4(NEXN):c.821T>C (p.Leu274Ser)	NEXN (L210S +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 30994	NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)	NEXN (R279C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +5 more	GConflicting classifications of pathogenicity
Select item 201919	NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)	NEXN (R286W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 626631	NM_144573.4(NEXN):c.865-4T>C	NEXN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 201942	NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)	NEXN (D292N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 47914	NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)	NEXN (T298R +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 618247	NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)	NEXN (F302L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +4 more	GUncertain significance
Select item 1309771	NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)	NEXN (R242C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 978347	NM_144573.4(NEXN):c.917G>A (p.Arg306His)	NEXN (R242H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 178904	NM_144573.4(NEXN):c.949A>C (p.Met317Leu)	NEXN (M317L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +5 more	GBenign/Likely benign
Select item 1305820	NM_144573.4(NEXN):c.967G>A (p.Glu323Lys)	NEXN (E259K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 179783	NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)	NEXN (E332del +1 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1CC +5 more	GConflicting classifications of pathogenicity
Select item 47915	NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)	NEXN (E332A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 47886	NM_144573.4(NEXN):c.1053+1G>A	NEXN	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 20 +7 more	GConflicting classifications of pathogenicity
Select item 164790	NM_144573.4(NEXN):c.1065T>C (p.Asp355=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 47887	NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)	NEXN (P371L +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 229052	NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)	NEXN (R397Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 229053	NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly)	NEXN (R412G +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 178878	NM_144573.4(NEXN):c.1252-10T>G	NEXN	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 2442993	NM_144573.4(NEXN):c.1271C>A (p.Thr424Asn)	NEXN (T360N +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 201924	NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)	NEXN (T424I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +5 more	GUncertain significance
Select item 1174941	NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr)	NEXN (I391T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 47889	NM_144573.4(NEXN):c.1368A>C (p.Gly456=)	NEXN	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 138511	NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln)	NEXN (E470Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 201940	NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)	NEXN (R475del +1 more)	Microsatellite (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 470677	NM_144573.4(NEXN):c.1422G>A (p.Arg474=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +2 more	GBenign/Likely benign
Select item 201934	NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr)	NEXN (I477T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +3 more	GUncertain significance
Select item 47891	NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)	NEXN (E485K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1329333	NM_144573.4(NEXN):c.1473+5A>G	NEXN	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 626632	NM_144573.4(NEXN):c.1489G>A (p.Val497Ile)	NEXN (V497I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2442994	NM_144573.4(NEXN):c.1527C>T (p.His509=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 626633	NM_144573.4(NEXN):c.1550T>A (p.Phe517Tyr)	NEXN (F517Y +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 194130	NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)	NEXN (E528del +1 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1CC +6 more	GUncertain significance
Select item 626634	NM_144573.4(NEXN):c.1582_1585delinsCAAA (p.Glu528_Gln529delinsGlnLys)	NEXN	Indel (missense variant)	Cardiomyopathy	GUncertain significance
Select item 180456	NM_144573.4(NEXN):c.1582G>C (p.Glu528Gln)	NEXN (E528Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
Select item 626635	NM_144573.4(NEXN):c.1585C>A (p.Gln529Lys)	NEXN (Q529K +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 626636	NM_144573.4(NEXN):c.1605A>G (p.Gln535=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 201929	NM_144573.4(NEXN):c.1618A>G (p.Met540Val)	NEXN (M540V +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 626389	NM_144573.4(NEXN):c.1642G>A (p.Asp548Asn)	NEXN (D548N +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 194131	NM_144573.4(NEXN):c.1653A>G (p.Leu551=)	NEXN	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 575564	NM_144573.4(NEXN):c.1664_1666del (p.Arg555_Glu556delinsLys)	NEXN	Deletion (inframe_indel)	Dilated cardiomyopathy 1CC +3 more	GUncertain significance
Select item 47893	NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)	NEXN	Microsatellite (inframe_deletion)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2442995	NM_144573.4(NEXN):c.1678G>C (p.Glu560Gln)	NEXN (E496Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 915669	NM_144573.4(NEXN):c.1683A>G (p.Glu561=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +4 more	GLikely benign
Select item 1329334	NM_144573.4(NEXN):c.1720G>A (p.Glu574Lys)	NEXN (E510K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1329335	NM_144573.4(NEXN):c.1731C>G (p.Thr577=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 626390	NM_144573.4(NEXN):c.1770C>T (p.Asn590=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 47897	NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)	NEXN (S596R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +5 more	GConflicting classifications of pathogenicity
Select item 626391	NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)	NEXN (E632Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 626392	NM_144573.4(NEXN):c.1922T>C (p.Leu641Ser)	NEXN (L641S +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 47899	NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)	NEXN (G650del +1 more)	Microsatellite (inframe_deletion)	not specified +5 more	GUncertain significance
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +6 more	GConflicting classifications of pathogenicity
Select item 229056	NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)	NEXN (G661R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 1118356	NM_144573.4(NEXN):c.1995T>C (p.Ser665=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 47900	NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)	NEXN (T666A +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +5 more	GUncertain significance
Select item 1329337	NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg)	NEXN (S609R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 298092	NM_144573.4(NEXN):c.*4CT[1]	NEXN	Microsatellite (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 915516	NM_001232.4(CASQ2):c.1195G>A (p.Glu399Lys)	CASQ2 (E399K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44158	NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)	CASQ2 (D398del)	Deletion	not provided +6 more	GConflicting classifications of pathogenicity
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 44155	NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	CASQ2 (D383del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1034524	NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)	CASQ2 (D379V)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 191441	NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)	CASQ2 (D351G)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 44153	NM_001232.4(CASQ2):c.1014+9C>T	VANGL1, CASQ2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 44152	NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	VANGL1, CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 190747	NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)	CASQ2 (P329S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 162810	NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)	CASQ2 (D310N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1589700	NM_001232.4(CASQ2):c.912G>A (p.Leu304=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1329103	NM_001232.4(CASQ2):c.824A>T (p.Glu275Val)	CASQ2 (E275V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 915584	NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)	CASQ2 (R251C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 915585	NM_001232.4(CASQ2):c.738-27dup	CASQ2	Duplication (intron variant)	not provided +3 more	GBenign

<< First< Prev

Page of 53