ClinVar for MedGen (Select 413929) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376985	NM_144573.4(NEXN):c.1535A>G (p.Asn512Ser)	NEXN (N448S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC	GUncertain significance
Select item 3062353	NM_144573.4(NEXN):c.822AGA[2] (p.Glu277del)	NEXN (E213del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
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)	Hypertrophic cardiomyopathy 20 +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)	Dilated cardiomyopathy 1CC +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)	Cardiovascular phenotype +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)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
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 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)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2202775	NM_144573.4(NEXN):c.106G>A (p.Glu36Lys)	NEXN (E36K)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 2198570	NM_144573.4(NEXN):c.345G>T (p.Glu115Asp)	LOC126805765, NEXN (E115D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2188407	NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)	NEXN (E324K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 2175954	NM_144573.4(NEXN):c.1112C>A (p.Pro371Gln)	NEXN (P371Q +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2173383	NM_144573.4(NEXN):c.1200G>A (p.Lys400=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2168926	NM_144573.4(NEXN):c.612C>T (p.Tyr204=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2165131	NM_144573.4(NEXN):c.1509C>T (p.Ser503=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2161601	NM_144573.4(NEXN):c.1084A>C (p.Lys362Gln)	NEXN (K362Q +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2156496	NM_144573.4(NEXN):c.688-1G>A	NEXN	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely pathogenic
Select item 2156054	NM_144573.4(NEXN):c.864+11A>G	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2154311	NM_144573.4(NEXN):c.1752C>T (p.Phe584=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2144311	NM_144573.4(NEXN):c.1659G>C (p.Lys553Asn)	NEXN (K489N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2144219	NM_144573.4(NEXN):c.524C>G (p.Pro175Arg)	NEXN (P175R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2142030	NM_144573.4(NEXN):c.220-17T>C	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2132590	NM_144573.4(NEXN):c.1084A>T (p.Lys362Ter)	NEXN (K298* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1CC +1 more	GPathogenic
Select item 2127920	NM_144573.4(NEXN):c.1959G>A (p.Met653Ile)	NEXN (M653I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2127868	NM_144573.4(NEXN):c.1535_1537dup (p.Asn512_Met513insAsn)	NEXN	Duplication (inframe_insertion)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2123226	NM_144573.4(NEXN):c.1501A>T (p.Arg501Ter)	NEXN (R437* +1 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 20 +1 more	GPathogenic
Select item 2123162	NM_144573.4(NEXN):c.1383A>G (p.Lys461=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2121108	NM_144573.4(NEXN):c.490-15T>A	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2118680	NM_144573.4(NEXN):c.676del (p.Ser226fs)	NEXN (S162fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1CC +1 more	GPathogenic
Select item 2116683	NM_144573.4(NEXN):c.1659+8G>A	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2103973	NM_144573.4(NEXN):c.717dup (p.Glu240fs)	NEXN (E240fs +1 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 20 +1 more	GPathogenic
Select item 2101517	NM_144573.4(NEXN):c.1930del (p.Thr644fs)	NEXN (T580fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2099175	NM_144573.4(NEXN):c.802G>C (p.Glu268Gln)	NEXN (E204Q +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2099026	NM_144573.4(NEXN):c.1585_1594del (p.Gln529fs)	NEXN (Q465fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2082322	NM_144573.4(NEXN):c.1088C>T (p.Thr363Ile)	NEXN (T299I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2079125	NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)	NEXN (P180S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2051767	NM_144573.4(NEXN):c.467C>T (p.Thr156Met)	NEXN (T92M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2051082	NM_144573.4(NEXN):c.1525C>A (p.His509Asn)	NEXN (H445N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2045258	NM_144573.4(NEXN):c.1659+2T>C	NEXN	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2042762	NM_144573.4(NEXN):c.586_591del (p.Arg196_Glu197del)	NEXN	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2040650	NM_144573.4(NEXN):c.28-12C>A	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2030839	NM_144573.4(NEXN):c.1411C>A (p.Arg471=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 2025112	NM_144573.4(NEXN):c.651A>G (p.Pro217=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2024892	NM_144573.4(NEXN):c.314G>C (p.Arg105Thr)	LOC126805765, NEXN (R105T +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2023692	NM_144573.4(NEXN):c.354_357del (p.Lys119fs)	LOC126805765, NEXN (K119fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 20 +1 more	GPathogenic
Select item 2023433	NM_144573.4(NEXN):c.1049A>G (p.Asn350Ser)	NEXN (N350S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 2016426	NM_144573.4(NEXN):c.1182G>A (p.Glu394=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 2016396	NM_144573.4(NEXN):c.1867C>G (p.Gln623Glu)	NEXN (Q623E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 2014173	NM_144573.4(NEXN):c.761T>C (p.Leu254Pro)	NEXN (L254P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 1997176	NM_144573.4(NEXN):c.1886A>G (p.Gln629Arg)	NEXN (Q565R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 1993576	NM_144573.4(NEXN):c.1170del (p.Lys390fs)	NEXN (K390fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 20 +1 more	GPathogenic
Select item 1989797	NM_144573.4(NEXN):c.1829A>G (p.Lys610Arg)	NEXN (K610R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 1982870	NM_144573.4(NEXN):c.687+6T>A	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 1963363	NM_144573.4(NEXN):c.1374G>T (p.Leu458Phe)	NEXN (L458F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 1957727	NM_144573.4(NEXN):c.490-14A>G	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 1952533	NM_144573.4(NEXN):c.1474-18T>C	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 1944983	NM_144573.4(NEXN):c.789G>A (p.Lys263=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 1944837	NM_144573.4(NEXN):c.419A>G (p.Gln140Arg)	LOC126805765, NEXN (Q140R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 1941900	NM_144573.4(NEXN):c.1839T>C (p.Ile613=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 1930158	NM_144573.4(NEXN):c.447+11A>T	LOC126805765, NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 1924958	NM_144573.4(NEXN):c.1012G>C (p.Glu338Gln)	NEXN (E274Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 1912904	NM_144573.4(NEXN):c.47A>C (p.Lys16Thr)	NEXN (K16T)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 1909939	NM_144573.4(NEXN):c.298+9C>T	LOC126805765, NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 1903631	NM_144573.4(NEXN):c.1242A>C (p.Glu414Asp)	NEXN (E350D +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 1899272	NM_144573.4(NEXN):c.934C>T (p.Leu312Phe)	NEXN (L312F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 1795714	NM_144573.4(NEXN):c.1113G>A (p.Pro371=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 1780153	NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys)	NEXN (E533K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1775418	NM_144573.4(NEXN):c.1568C>T (p.Ala523Val)	NEXN (A459V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 1771136	NM_144573.4(NEXN):c.1030T>G (p.Phe344Val)	NEXN (F280V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1746190	NM_144573.4(NEXN):c.522A>C (p.Val174=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +2 more	GLikely benign
Select item 1738414	NM_144573.4(NEXN):c.416T>C (p.Ile139Thr)	LOC126805765, NEXN (I139T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 1734913	NM_144573.4(NEXN):c.378A>G (p.Lys126=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +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 1731624	NM_144573.4(NEXN):c.345G>A (p.Glu115=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +2 more	GLikely benign
Select item 1690992	NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter)	NEXN (R420* +1 more)	Single nucleotide variant (nonsense)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1684947	NM_144573.4(NEXN):c.1252-1G>A	NEXN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1CC +2 more	GConflicting classifications of pathogenicity
Select item 1677910	NM_144573.4(NEXN):c.137del (p.Asn46fs)	NEXN (N46fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1677818	NM_144573.4(NEXN):c.646C>T (p.Arg216Ter)	NEXN (R152* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 1654088	NM_144573.4(NEXN):c.1794A>G (p.Pro598=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 1648949	NM_144573.4(NEXN):c.27+7C>T	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign

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