ClinVar for Gene (Select 91624) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3229182	NM_144573.4(NEXN):c.921T>C (p.Pro307=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229181	NM_144573.4(NEXN):c.892A>G (p.Thr298Ala)	NEXN (T234A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3229180	NM_144573.4(NEXN):c.741G>A (p.Leu247=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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
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 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 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 3229175	NM_144573.4(NEXN):c.2012T>A (p.Ile671Asn)	NEXN (I607N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229174	NM_144573.4(NEXN):c.1973A>G (p.Asn658Ser)	NEXN (N594S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 3229172	NM_144573.4(NEXN):c.1736C>T (p.Ser579Leu)	NEXN (S515L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229171	NM_144573.4(NEXN):c.1723G>T (p.Glu575Ter)	NEXN (E511* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 3229170	NM_144573.4(NEXN):c.1706C>T (p.Ser569Phe)	NEXN (S505F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229169	NM_144573.4(NEXN):c.1566G>A (p.Lys522=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229168	NM_144573.4(NEXN):c.1565A>C (p.Lys522Thr)	NEXN (K522T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229167	NM_144573.4(NEXN):c.1535A>T (p.Asn512Ile)	NEXN (N448I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 3229165	NM_144573.4(NEXN):c.1388T>C (p.Ile463Thr)	NEXN (I399T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229164	NM_144573.4(NEXN):c.1171C>G (p.Arg391Gly)	NEXN (R327G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229163	NM_144573.4(NEXN):c.1078A>G (p.Met360Val)	NEXN (M296V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3195769	NM_144573.4(NEXN):c.1620G>C (p.Met540Ile)	NEXN (M476I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3195765	NM_144573.4(NEXN):c.1616G>T (p.Arg539Leu)	NEXN (R475L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3195751	NM_144573.4(NEXN):c.1262A>T (p.Glu421Val)	NEXN (E421V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3195749	NM_144573.4(NEXN):c.1261G>C (p.Glu421Gln)	NEXN (E421Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3062353	NC_000001.11:g.77926856_77926858del	NEXN	Deletion	Dilated cardiomyopathy 1CC	GUncertain significance
Select item 3027233	NM_144573.4(NEXN):c.151A>C (p.Arg51=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	MCOLN2, MCOLN3 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2953278	NM_144573.4(NEXN):c.798del (p.Glu267fs)	NEXN (E267fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1CC +1 more	GPathogenic
Select item 2950580	NM_144573.4(NEXN):c.1660-16A>C	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2950272	NM_144573.4(NEXN):c.1638A>G (p.Glu546=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2949982	NM_144573.4(NEXN):c.1140A>G (p.Glu380=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2949465	NM_144573.4(NEXN):c.813_814insGG (p.Lys272fs)	NEXN (K208fs +1 more)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy 20 +1 more	GPathogenic
Select item 2947595	NM_144573.4(NEXN):c.1536dup (p.Met513fs)	NEXN (M513fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1CC +1 more	GPathogenic
Select item 2945035	NM_144573.4(NEXN):c.1473+15del	NEXN	Deletion (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2945034	NM_144573.4(NEXN):c.1473+7dup	NEXN	Duplication (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2940524	NM_144573.4(NEXN):c.298+2T>C	LOC126805765, NEXN	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely pathogenic
Select item 2940061	NM_144573.4(NEXN):c.1144T>C (p.Leu382=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2937378	NM_144573.4(NEXN):c.1659+9C>T	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2936967	NM_144573.4(NEXN):c.298G>T (p.Gly100Ter)	LOC126805765, NEXN (G100* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1CC +1 more	GPathogenic
Select item 2934864	NM_144573.4(NEXN):c.803A>G (p.Glu268Gly)	NEXN (E268G +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2932962	NM_144573.4(NEXN):c.666A>G (p.Ala222=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2932105	NM_144573.4(NEXN):c.1779T>G (p.Val593=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2931787	NM_144573.4(NEXN):c.15C>T (p.Ser5=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2930650	NM_144573.4(NEXN):c.972T>C (p.Asp324=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2930618	NM_144573.4(NEXN):c.919C>A (p.Pro307Thr)	NEXN (P243T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2930172	NM_144573.4(NEXN):c.930C>T (p.Leu310=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +2 more	GLikely benign
Select item 2929334	NM_144573.4(NEXN):c.865-9_892del	NEXN	Deletion (splice acceptor variant)	Dilated cardiomyopathy 1CC +1 more	GLikely pathogenic
Select item 2929299	NM_144573.4(NEXN):c.1231C>T (p.Leu411=)	NEXN	Single nucleotide variant (synonymous variant)	NEXN-related disorder +2 more	GLikely benign
Select item 2921017	NM_144573.4(NEXN):c.1522A>T (p.Thr508Ser)	NEXN (T444S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2638893	NM_144573.4(NEXN):c.*414A>C	NEXN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2638892	NM_144573.4(NEXN):c.1809T>C (p.Val603=)	NEXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633687	NM_144573.4(NEXN):c.1898G>A (p.Arg633Lys)	NEXN (R569K +1 more)	Single nucleotide variant (missense variant)	NEXN-related disorder	GUncertain significance
Select item 2633553	NM_144573.4(NEXN):c.1292_1293del (p.Glu430_Tyr431insTer)	NEXN	Microsatellite (nonsense +1 more)	NEXN-related disorder	GUncertain significance
Select item 2625961	NM_144573.4(NEXN):c.865-1G>A	NEXN	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625960	NM_144573.4(NEXN):c.1948G>A (p.Gly650Arg)	NEXN (G586R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625959	NM_144573.4(NEXN):c.1004G>A (p.Arg335Lys)	NEXN (R335K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625958	NM_144573.4(NEXN):c.1666G>C (p.Glu556Gln)	NEXN (E492Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625957	NM_144573.4(NEXN):c.1855G>A (p.Gly619Arg)	NEXN (G619R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2624494	NM_144573.4(NEXN):c.1965A>G (p.Lys655=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2608926	NM_144573.4(NEXN):c.901A>G (p.Ile301Val)	NEXN (I237V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2564023	NM_144573.4(NEXN):c.246T>C (p.Asp82=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2564022	NM_144573.4(NEXN):c.1924C>G (p.Pro642Ala)	NEXN (P642A +1 more)	Single nucleotide variant (missense 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 2564019	NM_144573.4(NEXN):c.1202T>C (p.Leu401Pro)	NEXN (L337P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564018	NM_144573.4(NEXN):c.1898G>C (p.Arg633Thr)	NEXN (R633T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564017	NM_144573.4(NEXN):c.1431T>C (p.Ile477=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2561771	NM_144573.4(NEXN):c.25_27+2del	NEXN	Deletion (splice donor 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 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 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 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 2501770	NM_144573.4(NEXN):c.1668_1673del (p.Glu561_Glu562del)	NEXN	Deletion (inframe_deletion)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2498004	NM_144573.4(NEXN):c.1426G>A (p.Ala476Thr)	NEXN (A412T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2482984	NM_144573.4(NEXN):c.1693A>G (p.Ile565Val)	NEXN (I565V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 2450351	NM_144573.4(NEXN):c.980G>T (p.Arg327Met)	NEXN (R327M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450345	NM_144573.4(NEXN):c.1867C>T (p.Gln623Ter)	NEXN (Q623* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	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 2449174	NM_144573.4(NEXN):c.2002A>G (p.Ile668Val)	NEXN (I604V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449173	NM_144573.4(NEXN):c.1400del (p.Ile467fs)	NEXN (I467fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449171	NM_144573.4(NEXN):c.1510G>A (p.Glu504Lys)	NEXN (E440K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2449169	NM_144573.4(NEXN):c.1342C>T (p.Leu448=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2449166	NM_144573.4(NEXN):c.2001dup (p.Ile668fs)	NEXN (I668fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449165	NM_144573.4(NEXN):c.1611A>G (p.Leu537=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2444682	NM_144573.4(NEXN):c.125G>A (p.Arg42Lys)	NEXN (R42K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2442994	NM_144573.4(NEXN):c.1527C>T (p.His509=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely 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 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 2428457	NM_144573.4(NEXN):c.362C>A (p.Thr121Lys)	LOC126805765, NEXN (T121K +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2427291	NC_000001.10:g.(?_78398947)_(78401749_?)del	NEXN	Deletion	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2418199	NM_144573.4(NEXN):c.1252-19_1252-18del	NEXN	Deletion (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2303527	NM_144573.4(NEXN):c.1772C>T (p.Thr591Ile)	NEXN (T527I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2290866	NM_144573.4(NEXN):c.1549T>G (p.Phe517Val)	NEXN (F453V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2252917	NM_144573.4(NEXN):c.1694T>C (p.Ile565Thr)	NEXN (I501T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2251207	NM_144573.4(NEXN):c.1169A>C (p.Lys390Thr)	NEXN (K326T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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