LOC126805765[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 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 1103030	NM_144573.4(NEXN):c.270A>G (p.Val90=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 470682	NM_144573.4(NEXN):c.277G>C (p.Ala93Pro)	NEXN, LOC126805765 (A93P +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	GUncertain significance
Select item 704912	NM_144573.4(NEXN):c.292T>C (p.Leu98=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1797904	NM_144573.4(NEXN):c.293T>A (p.Leu98Ter)	LOC126805765, NEXN (L34* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
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 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 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 47902	NM_144573.4(NEXN):c.298+10T>C	LOC126805765, NEXN	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 538113	NM_144573.4(NEXN):c.299-10A>G	LOC126805765, NEXN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 47904	NM_144573.4(NEXN):c.299-3T>C	LOC126805765, NEXN	Single nucleotide variant (intron variant)	not specified +3 more	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 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 1728910	NM_144573.4(NEXN):c.320C>T (p.Ala107Val)	LOC126805765, NEXN (A107V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 538114	NM_144573.4(NEXN):c.321T>A (p.Ala107=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
Select item 1359046	NM_144573.4(NEXN):c.328G>C (p.Glu110Gln)	LOC126805765, NEXN (E46Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1004893	NM_144573.4(NEXN):c.335A>G (p.Gln112Arg)	NEXN, LOC126805765 (Q112R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 more	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 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 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 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 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 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 1632422	NM_144573.4(NEXN):c.352A>C (p.Arg118=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
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 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 47906	NM_144573.4(NEXN):c.363G>A (p.Thr121=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign
Select item 1351409	NM_144573.4(NEXN):c.364G>C (p.Glu122Gln)	LOC126805765, NEXN (E122Q +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
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 1575405	NM_144573.4(NEXN):c.373C>A (p.Arg125=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1CC +1 more	GLikely benign
Select item 915602	NM_144573.4(NEXN):c.373C>T (p.Arg125Ter)	LOC126805765, NEXN (R125* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 519167	NM_144573.4(NEXN):c.374G>A (p.Arg125Gln)	NEXN, LOC126805765 (R125Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 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 806155	NM_144573.4(NEXN):c.380G>A (p.Arg127His)	LOC126805765, NEXN (R127H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +3 more	GConflicting classifications of pathogenicity
Select item 1607098	NM_144573.4(NEXN):c.381C>A (p.Arg127=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 20 +1 more	GLikely benign
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 30993	NM_144573.4(NEXN):c.391C>G (p.Gln131Glu)	LOC126805765, NEXN (Q131E +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20	GPathogenic
Select item 264597	NM_144573.4(NEXN):c.392A>C (p.Gln131Pro)	LOC126805765, NEXN (Q131P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +2 more	GUncertain significance
Select item 47907	NM_144573.4(NEXN):c.392A>G (p.Gln131Arg)	LOC126805765, NEXN (Q131R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +4 more	GUncertain significance
Select item 1736826	NM_144573.4(NEXN):c.399G>A (p.Met133Ile)	LOC126805765, NEXN (M133I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737624	NM_144573.4(NEXN):c.408_415dup (p.Ile139fs)	LOC126805765, NEXN (I139fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737272	NM_144573.4(NEXN):c.403G>A (p.Glu135Lys)	LOC126805765, NEXN (E71K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737729	NM_144573.4(NEXN):c.408G>T (p.Lys136Asn)	NEXN, LOC126805765 (K136N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1329338	NM_144573.4(NEXN):c.408G>A (p.Lys136=)	LOC126805765, NEXN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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 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 691653	NM_144573.4(NEXN):c.421C>T (p.Arg141Cys)	LOC126805765, NEXN (R77C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +2 more	GUncertain significance
Select item 1371617	NM_144573.4(NEXN):c.422G>A (p.Arg141His)	LOC126805765, NEXN (R77H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1739683	NM_144573.4(NEXN):c.431C>G (p.Ala144Gly)	LOC126805765, NEXN (A80G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 662564	NM_144573.4(NEXN):c.431C>T (p.Ala144Val)	LOC126805765, NEXN (A144V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +1 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 164784	NM_144573.4(NEXN):c.447+5C>T	LOC126805765, NEXN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 671475	NM_144573.4(NEXN):c.447+105A>G	LOC126805765, NEXN	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 61