"Ambry Genetics"[submitter] AND "NEXN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1784192	NM_144573.4(NEXN):c.-1C>T	NEXN	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 519128	NM_144573.4(NEXN):c.1A>C (p.Met1Leu)	NEXN (M1L)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 518850	NM_144573.4(NEXN):c.7_9del (p.Asp3del)	NEXN (D3del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1765416	NM_144573.4(NEXN):c.8A>T (p.Asp3Val)	NEXN (D3V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2561771	NM_144573.4(NEXN):c.25_27+2del	NEXN	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796186	NM_144573.4(NEXN):c.27G>A (p.Glu9=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564020	NM_144573.4(NEXN):c.29T>G (p.Ile10Ser)	NEXN (I10S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1729964	NM_144573.4(NEXN):c.32T>C (p.Leu11Pro)	NEXN (L11P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741813	NM_144573.4(NEXN):c.45T>C (p.Ser15=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1742526	NM_144573.4(NEXN):c.46A>G (p.Lys16Glu)	NEXN (K16E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2449168	NM_144573.4(NEXN):c.50C>G (p.Pro17Arg)	NEXN (P17R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 756867	NM_144573.4(NEXN):c.66T>C (p.Tyr22=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1757161	NM_144573.4(NEXN):c.70C>G (p.Pro24Ala)	NEXN (P24A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2537893	NM_144573.4(NEXN):c.71C>T (p.Pro24Leu)	NEXN (P24L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 470683	NM_144573.4(NEXN):c.78T>C (p.Leu26=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1762001	NM_144573.4(NEXN):c.80G>T (p.Gly27Val)	NEXN (G27V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1768535	NM_144573.4(NEXN):c.98A>G (p.Asp33Gly)	NEXN (D33G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1773838	NM_144573.4(NEXN):c.103T>G (p.Phe35Val)	NEXN (F35V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2537892	NM_144573.4(NEXN):c.104T>C (p.Phe35Ser)	NEXN (F35S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2202775	NM_144573.4(NEXN):c.106G>A (p.Glu36Lys)	NEXN (E36K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 1788709	NM_144573.4(NEXN):c.108A>G (p.Glu36=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3229166	NM_144573.4(NEXN):c.138T>C (p.Asn46=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1772467	NM_144573.4(NEXN):c.142del (p.Arg48fs)	NEXN (R48fs)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 520342	NM_144573.4(NEXN):c.141A>G (p.Gln47=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 226849	NM_144573.4(NEXN):c.156C>T (p.Asp52=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 519153	NM_144573.4(NEXN):c.157G>A (p.Glu53Lys)	NEXN (E53K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1014582	NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del)	NEXN (R57del)	Microsatellite (inframe_deletion +1 more)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1021541	NM_144573.4(NEXN):c.175G>A (p.Glu59Lys)	NEXN (E59K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1303274	NM_144573.4(NEXN):c.176A>G (p.Glu59Gly)	NEXN (E59G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3229173	NM_144573.4(NEXN):c.184_185dup (p.Arg63fs)	NEXN (R63fs)	Microsatellite (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1315130	NM_144573.4(NEXN):c.185T>A (p.Ile62Asn)	NEXN (I62N)	Single nucleotide variant (missense variant +1 more)	NEXN-related disorder +2 more	GUncertain significance
Select item 2564024	NM_144573.4(NEXN):c.214C>A (p.Gln72Lys)	NEXN (Q72K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 241865	NM_144573.4(NEXN):c.222T>C (p.Ile74=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +2 more	GLikely benign
Select item 1788903	NM_144573.4(NEXN):c.227A>G (p.Glu76Gly)	NEXN (E12G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 178935	NM_144573.4(NEXN):c.237T>C (p.Ala79=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 201915	NM_144573.4(NEXN):c.242A>T (p.Asp81Val)	NEXN (D81V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2564023	NM_144573.4(NEXN):c.246T>C (p.Asp82=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1791895	NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)	NEXN (E83K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 178102	NM_144573.4(NEXN):c.249G>A (p.Glu83=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +6 more	GConflicting classifications of pathogenicity
Select item 582416	NM_144573.4(NEXN):c.250G>A (p.Glu84Lys)	NEXN (E84K +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +3 more	GUncertain significance
Select item 1792921	NM_144573.4(NEXN):c.254A>G (p.Asp85Gly)	NEXN (D85G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793099	NM_144573.4(NEXN):c.255T>G (p.Asp85Glu)	NEXN (D21E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1103030	NM_144573.4(NEXN):c.270A>G (p.Val90=)	NEXN, LOC126805765	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +2 more	GLikely benign
Select item 1797904	NM_144573.4(NEXN):c.293T>A (p.Leu98Ter)	LOC126805765, NEXN (L34* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 3229176	NM_144573.4(NEXN):c.311G>A (p.Gly104Asp)	LOC126805765, NEXN (G104D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1728910	NM_144573.4(NEXN):c.320C>T (p.Ala107Val)	LOC126805765, NEXN (A107V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1359046	NM_144573.4(NEXN):c.328G>C (p.Glu110Gln)	LOC126805765, NEXN (E46Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2449170	NM_144573.4(NEXN):c.345G>C (p.Glu115Asp)	LOC126805765, NEXN (E115D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731624	NM_144573.4(NEXN):c.345G>A (p.Glu115=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1733390	NM_144573.4(NEXN):c.362C>T (p.Thr121Met)	LOC126805765, NEXN (T57M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 47906	NM_144573.4(NEXN):c.363G>A (p.Thr121=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +5 more	GBenign
Select item 1351409	NM_144573.4(NEXN):c.364G>C (p.Glu122Gln)	LOC126805765, NEXN (E122Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 451638	NM_144573.4(NEXN):c.370G>A (p.Glu124Lys)	LOC126805765, NEXN (E124K +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +3 more	GUncertain significance
Select item 519167	NM_144573.4(NEXN):c.374G>A (p.Arg125Gln)	NEXN, LOC126805765 (R125Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1734913	NM_144573.4(NEXN):c.378A>G (p.Lys126=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +2 more	GLikely benign
Select item 229058	NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)	LOC126805765, NEXN (R127C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 806155	NM_144573.4(NEXN):c.380G>A (p.Arg127His)	LOC126805765, NEXN (R127H +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +3 more	GConflicting classifications of pathogenicity
Select item 2461144	NM_144573.4(NEXN):c.388G>A (p.Glu130Lys)	LOC126805765, NEXN (E130K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264597	NM_144573.4(NEXN):c.392A>C (p.Gln131Pro)	LOC126805765, NEXN (Q131P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 47907	NM_144573.4(NEXN):c.392A>G (p.Gln131Arg)	LOC126805765, NEXN (Q131R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1736826	NM_144573.4(NEXN):c.399G>A (p.Met133Ile)	LOC126805765, NEXN (M133I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737624	NM_144573.4(NEXN):c.408_415dup (p.Ile139fs)	LOC126805765, NEXN (I139fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737272	NM_144573.4(NEXN):c.403G>A (p.Glu135Lys)	LOC126805765, NEXN (E71K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737729	NM_144573.4(NEXN):c.408G>T (p.Lys136Asn)	NEXN, LOC126805765 (K136N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1738414	NM_144573.4(NEXN):c.416T>C (p.Ile139Thr)	LOC126805765, NEXN (I139T +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1371617	NM_144573.4(NEXN):c.422G>A (p.Arg141His)	LOC126805765, NEXN (R77H +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1739683	NM_144573.4(NEXN):c.431C>G (p.Ala144Gly)	LOC126805765, NEXN (A80G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 164784	NM_144573.4(NEXN):c.447+5C>T	LOC126805765, NEXN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 424583	NM_144573.4(NEXN):c.450T>A (p.Ile150=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 701133	NM_144573.4(NEXN):c.456C>T (p.Asp152=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1741613	NM_144573.4(NEXN):c.457A>G (p.Ile153Val)	NEXN (I89V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 201937	NM_144573.4(NEXN):c.461_464del (p.Asn154fs)	NEXN (N154fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 20 +3 more	GConflicting classifications of pathogenicity
Select item 2051767	NM_144573.4(NEXN):c.467C>T (p.Thr156Met)	NEXN (T92M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 1742838	NM_144573.4(NEXN):c.474T>C (p.Thr158=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743780	NM_144573.4(NEXN):c.487G>C (p.Glu163Gln)	NEXN (E163Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 538106	NM_144573.4(NEXN):c.491A>G (p.Glu164Gly)	NEXN (E164G +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1744324	NM_144573.4(NEXN):c.494G>C (p.Gly165Ala)	NEXN (G101A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229177	NM_144573.4(NEXN):c.498T>A (p.Asp166Glu)	NEXN (D102E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 538112	NM_144573.4(NEXN):c.507A>G (p.Leu169=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +2 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 1746190	NM_144573.4(NEXN):c.522A>C (p.Val174=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +2 more	GLikely benign
Select item 3229178	NM_144573.4(NEXN):c.541A>G (p.Thr181Ala)	NEXN (T117A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 661519	NM_144573.4(NEXN):c.542C>T (p.Thr181Ile)	NEXN (T181I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2449175	NM_144573.4(NEXN):c.561G>T (p.Lys187Asn)	NEXN (K123N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748678	NM_144573.4(NEXN):c.561G>A (p.Lys187=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 718711	NM_144573.4(NEXN):c.579A>G (p.Glu193=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1750013	NM_144573.4(NEXN):c.583G>C (p.Glu195Gln)	NEXN (E131Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 179003	NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)	NEXN (R196C +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GUncertain significance
Select item 1750246	NM_144573.4(NEXN):c.587G>A (p.Arg196His)	NEXN (R132H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2560578	NM_144573.4(NEXN):c.595A>G (p.Lys199Glu)	NEXN (K135E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751573	NM_144573.4(NEXN):c.609G>C (p.Lys203Asn)	NEXN (K203N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 520310	NM_144573.4(NEXN):c.616G>A (p.Glu206Lys)	NEXN (E206K +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +3 more	GConflicting classifications of pathogenicity
Select item 520305	NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)	NEXN (D207G +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +3 more	GUncertain significance
Select item 518919	NM_144573.4(NEXN):c.626G>T (p.Arg209Ile)	NEXN (R209I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1753004	NM_144573.4(NEXN):c.634T>C (p.Tyr212His)	NEXN (Y148H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 263611	NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)	NEXN (Y212N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2535964	NM_144573.4(NEXN):c.635A>T (p.Tyr212Phe)	NEXN (Y212F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1310768	NM_144573.4(NEXN):c.644A>G (p.Gln215Arg)	NEXN (Q151R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3229179	NM_144573.4(NEXN):c.647G>A (p.Arg216Gln)	NEXN (R152Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign

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