"Clinical Genetics, Academic Medical Center"[submitter] AND "NEXN"[gen - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 47906	NM_144573.4(NEXN):c.363G>A (p.Thr121=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign
Select item 806155	NM_144573.4(NEXN):c.380G>A (p.Arg127His)	LOC126805765, NEXN (R127H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 1284566	NM_144573.4(NEXN):c.530A>T (p.Lys177Ile)	NEXN (K113I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 201913	NM_144573.4(NEXN):c.687+23del	NEXN	Deletion (intron variant)	Dilated cardiomyopathy 1CC +2 more	GBenign
Select item 47910	NM_144573.4(NEXN):c.732C>A (p.Pro244=)	NEXN	Single nucleotide variant (synonymous variant)	NEXN-related disorder +5 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 +3 more	GBenign
Select item 47912	NM_144573.4(NEXN):c.777A>G (p.Gln259=)	NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 47913	NM_144573.4(NEXN):c.864+12T>A	NEXN	Single nucleotide variant (intron variant)	NEXN-related disorder +3 more	GBenign/Likely benign
Select item 1175035	NM_144573.4(NEXN):c.865-17A>G	NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +2 more	GBenign/Likely benign
Select item 201942	NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)	NEXN (D292N +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1064112	NM_144573.4(NEXN):c.935T>A (p.Leu312His)	NEXN (L248H +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 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)	not provided +6 more	GBenign
Select item 201920	NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr)	NEXN (I337T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +3 more	GUncertain significance
Select item 47887	NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)	NEXN (P371L +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 1174941	NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr)	NEXN (I391T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 138511	NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln)	NEXN (E470Q +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +4 more	GBenign
Select item 47891	NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)	NEXN (E485K +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 194130	NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)	NEXN (E528del +1 more)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 20 +6 more	GUncertain significance
Select item 201929	NM_144573.4(NEXN):c.1618A>G (p.Met540Val)	NEXN (M540V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 138512	NM_144573.4(NEXN):c.1659+18C>G	NEXN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1CC +2 more	GBenign/Likely benign
Select item 47893	NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)	NEXN	Microsatellite (inframe_deletion)	NEXN-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 1284493	NM_144573.4(NEXN):c.1749G>A (p.Trp583Ter)	NEXN (W519* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1299939	NM_144573.4(NEXN):c.1810A>G (p.Lys604Glu)	NEXN (K540E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47900	NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)	NEXN (T666A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance

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Items: 34