"GeneDx"[submitter] AND "NEXN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1205626	NM_144573.4(NEXN):c.28-9C>T	NEXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 835184	NM_144573.4(NEXN):c.55C>T (p.Pro19Ser)	NEXN (P19S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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)	not provided +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 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 2444682	NM_144573.4(NEXN):c.125G>A (p.Arg42Lys)	NEXN (R42K)	Single nucleotide variant (missense variant +1 more)	not provided +1 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 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 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 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 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 1409607	NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)	NEXN (W67*)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 671176	NM_144573.4(NEXN):c.219+25G>A	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
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 provided +1 more	GUncertain significance
Select item 201915	NM_144573.4(NEXN):c.242A>T (p.Asp81Val)	NEXN (D81V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +4 more	GConflicting classifications of pathogenicity
Select item 178102	NM_144573.4(NEXN):c.249G>A (p.Glu83=)	NEXN	Single nucleotide variant (synonymous variant)	not provided +5 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)	not provided +3 more	GUncertain significance
Select item 47903	NM_144573.4(NEXN):c.299-14del	LOC126805765, NEXN	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 388181	NM_144573.4(NEXN):c.299-14T>C	LOC126805765, NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +2 more	GLikely benign
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)	Cardiovascular phenotype +5 more	GBenign
Select item 451638	NM_144573.4(NEXN):c.370G>A (p.Glu124Lys)	LOC126805765, NEXN (E124K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +3 more	GUncertain significance
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 1305582	NM_144573.4(NEXN):c.436A>G (p.Arg146Gly)	NEXN, LOC126805765 (R146G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201916	NM_144573.4(NEXN):c.442G>A (p.Glu148Lys)	LOC126805765, NEXN (E148K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 671475	NM_144573.4(NEXN):c.447+105A>G	LOC126805765, NEXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211051	NM_144573.4(NEXN):c.448-47del	NEXN	Deletion (intron variant)	not provided	GLikely benign
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 201937	NM_144573.4(NEXN):c.461_464del (p.Asn154fs)	NEXN (N154fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 383313	NM_144573.4(NEXN):c.468G>A (p.Thr156=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +2 more	GLikely benign
Select item 682221	NM_144573.4(NEXN):c.483A>C (p.Ala161=)	NEXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1232888	NM_144573.4(NEXN):c.489+106T>C	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241885	NM_144573.4(NEXN):c.489+207C>T	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 201917	NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)	NEXN (I171T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +5 more	GConflicting classifications of pathogenicity
Select item 3364596	NM_144573.4(NEXN):c.538A>C (p.Lys180Gln)	NEXN (K116Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 661519	NM_144573.4(NEXN):c.542C>T (p.Thr181Ile)	NEXN (T181I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +3 more	GUncertain significance
Select item 201918	NM_144573.4(NEXN):c.542C>A (p.Thr181Lys)	NEXN (T181K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201938	NM_144573.4(NEXN):c.571del (p.Asp191fs)	NEXN (D127fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1305699	NM_144573.4(NEXN):c.582A>T (p.Lys194Asn)	NEXN (K130N +1 more)	Single nucleotide variant (missense variant)	not provided	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 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)	Cardiovascular phenotype +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)	Dilated cardiomyopathy 1CC +3 more	GConflicting classifications of pathogenicity
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 431969	NM_144573.4(NEXN):c.680T>C (p.Leu227Ser)	NEXN (L227S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 418383	NM_144573.4(NEXN):c.687+8TTTG[2]	NEXN	Microsatellite (intron variant)	not specified	GLikely benign
Select item 201913	NM_144573.4(NEXN):c.687+23del	NEXN	Deletion (intron variant)	Dilated cardiomyopathy 1CC +2 more	GBenign
Select item 241867	NM_144573.4(NEXN):c.688-10G>A	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +3 more	GLikely benign
Select item 47910	NM_144573.4(NEXN):c.732C>A (p.Pro244=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +4 more	GBenign/Likely benign
Select item 47911	NM_144573.4(NEXN):c.733G>A (p.Gly245Arg)	NEXN (G245R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 520338	NM_144573.4(NEXN):c.739T>C (p.Leu247=)	NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +3 more	GLikely benign
Select item 538105	NM_144573.4(NEXN):c.767G>A (p.Arg256Gln)	NEXN (R256Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 47912	NM_144573.4(NEXN):c.777A>G (p.Gln259=)	NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +3 more	GBenign/Likely benign
Select item 1328591	NM_144573.4(NEXN):c.785G>A (p.Arg262Gln)	NEXN (R198Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 263645	NM_144573.4(NEXN):c.817C>T (p.Arg273Cys)	NEXN (R273C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	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 30994	NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)	NEXN (R279C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 855801	NM_144573.4(NEXN):c.848A>T (p.Glu283Val)	NEXN (E219V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 201919	NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)	NEXN (R286W +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +5 more	GConflicting classifications of pathogenicity
Select item 47913	NM_144573.4(NEXN):c.864+12T>A	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +2 more	GBenign/Likely benign
Select item 1194641	NM_144573.4(NEXN):c.864+43T>G	NEXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678696	NM_144573.4(NEXN):c.864+231A>G	NEXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683664	NM_144573.4(NEXN):c.864+290C>T	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670038	NM_144573.4(NEXN):c.864+294A>G	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175035	NM_144573.4(NEXN):c.865-17A>G	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +2 more	GBenign/Likely benign
Select item 695265	NM_144573.4(NEXN):c.865-9T>C	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +2 more	GLikely benign
Select item 180108	NM_144573.4(NEXN):c.865-5G>A	NEXN	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 201942	NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)	NEXN (D292N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +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 409281	NM_144573.4(NEXN):c.902T>A (p.Ile301Asn)	NEXN (I301N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +3 more	GUncertain significance
Select item 1309771	NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)	NEXN (R242C +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +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)	Cardiomyopathy +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
Select item 201939	NM_144573.4(NEXN):c.1002_1004del (p.Arg336del)	NEXN (R336del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 201920	NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr)	NEXN (I337T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 201921	NM_144573.4(NEXN):c.1028C>T (p.Ala343Val)	NEXN (A343V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 178103	NM_144573.4(NEXN):c.1029G>A (p.Ala343=)	NEXN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 507458	NM_144573.4(NEXN):c.1042A>C (p.Arg348=)	NEXN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 47886	NM_144573.4(NEXN):c.1053+1G>A	NEXN	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 675986	NM_144573.4(NEXN):c.1053+128T>C	NEXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193103	NM_144573.4(NEXN):c.1054-206G>A	NEXN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1783272	NM_144573.4(NEXN):c.1070C>T (p.Ser357Phe)	NEXN (S293F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 978349	NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)	NEXN (P294L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +4 more	GUncertain significance
Select item 201922	NM_144573.4(NEXN):c.1094C>G (p.Ser365Cys)	NEXN (S365C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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