91624[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 152108	GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1	ADGRL4, DNAJB4 +33 more	Copy number loss	See cases	GUncertain significance
Select item 298084	NM_144573.3(NEXN):c.-212_-210GGC[7]	LOC129930795, NEXN +1 more	Microsatellite (non-coding transcript variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 138513	NM_144573.4(NEXN):c.-58T>C	NEXN-AS1, NEXN	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 1194335	NM_144573.4(NEXN):c.-53+36T>G	NEXN, NEXN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1233836	NM_144573.4(NEXN):c.-53+141G>T	LOC129930796, NEXN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 201911	NM_144573.4(NEXN):c.-52-16T>C	NEXN	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 518082	NM_144573.4(NEXN):c.-52-4del	NEXN	Deletion (intron variant)	not provided	GLikely benign
Select item 513029	NM_144573.4(NEXN):c.-43T>A	NEXN	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 201912	NM_144573.4(NEXN):c.-34C>A	NEXN	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 179916	NM_144573.4(NEXN):c.-10T>C	NEXN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 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 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 1648949	NM_144573.4(NEXN):c.27+7C>T	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 675412	NM_144573.4(NEXN):c.27+200T>C	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674339	NM_144573.4(NEXN):c.27+220A>C	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287762	NM_144573.4(NEXN):c.28-85del	NEXN	Deletion (intron variant)	not provided	GBenign
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 1205626	NM_144573.4(NEXN):c.28-9C>T	NEXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2691225	NM_144573.4(NEXN):c.43T>C (p.Ser15Pro)	NEXN (S15P)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	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 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 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 1329339	NM_144573.4(NEXN):c.52G>A (p.Val18Ile)	NEXN (V18I)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 835184	NM_144573.4(NEXN):c.55C>T (p.Pro19Ser)	NEXN (P19S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 20 +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 201914	NM_144573.4(NEXN):c.62C>T (p.Thr21Ile)	NEXN (T21I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450164	NM_144573.4(NEXN):c.64T>A (p.Tyr22Asn)	NEXN (Y22N)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 373625	NM_144573.4(NEXN):c.65A>G (p.Tyr22Cys)	NEXN (Y22C)	Single nucleotide variant (missense variant +1 more)	not specified	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 1174774	NM_144573.4(NEXN):c.67G>A (p.Val23Ile)	NEXN (V23I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 229061	NM_144573.4(NEXN):c.86G>T (p.Gly29Val)	NEXN (G29V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 20 +2 more	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 1056165	NM_144573.4(NEXN):c.112A>C (p.Met38Leu)	NEXN (M38L)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
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 1087582	NM_144573.4(NEXN):c.133A>C (p.Arg45=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 643060	NM_144573.4(NEXN):c.134G>T (p.Arg45Ile)	NEXN (R45I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
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 1208691	NM_144573.4(NEXN):c.135A>G (p.Arg45=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	not provided	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 3027233	NM_144573.4(NEXN):c.151A>C (p.Arg51=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1476902	NM_144573.4(NEXN):c.156C>A (p.Asp52Glu)	NEXN (D52E)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
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 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 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 1027744	NM_144573.4(NEXN):c.178C>T (p.Gln60Ter)	NEXN (Q60*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1CC +1 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 1353833	NM_144573.4(NEXN):c.190G>C (p.Glu64Gln)	NEXN (E64Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 1606008	NM_144573.4(NEXN):c.195A>G (p.Arg65=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 1409607	NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)	NEXN (W67*)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 20 +3 more	GConflicting classifications of pathogenicity
Select item 1156501	NM_144573.4(NEXN):c.207G>A (p.Arg69=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
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 626386	NM_144573.4(NEXN):c.216G>A (p.Gln72=)	NEXN	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 1422981	NM_144573.4(NEXN):c.219+5T>G	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +1 more	GUncertain significance
Select item 671176	NM_144573.4(NEXN):c.219+25G>A	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1625711	NM_144573.4(NEXN):c.220-19_220-16del	NEXN	Deletion (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 1552955	NM_144573.4(NEXN):c.220-13_220-10del	NEXN	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
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 515976	NM_144573.4(NEXN):c.220-6A>G	NEXN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 164781	NM_144573.4(NEXN):c.220A>C (p.Ile74Leu)	NEXN (I74L +1 more)	Single nucleotide variant (missense variant)	not specified	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 1023036	NM_144573.4(NEXN):c.244G>A (p.Asp82Asn)	NEXN (D18N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 958569	NM_144573.4(NEXN):c.244G>C (p.Asp82His)	NEXN (D82H +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	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 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)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 47901	NM_144573.4(NEXN):c.249G>C (p.Glu83Asp)	NEXN (E83D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 626387	NM_144573.4(NEXN):c.257T>C (p.Val86Ala)	NEXN (V86A +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
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 470682	NM_144573.4(NEXN):c.277G>C (p.Ala93Pro)	LOC126805765, NEXN (A93P +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance

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