Related gene-specific medical variations for Gene (Select 10529) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3225564	NM_006393.3(NEBL):c.2142C>A (p.Ile714=)	LOC126860875, NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3225563	NM_006393.3(NEBL):c.2056G>A (p.Val686Ile)	LOC126860875, NEBL (V686I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2820112	NM_006393.3(NEBL):c.2080C>A (p.Arg694=)	LOC126860875, NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2689573	NM_006393.3(NEBL):c.2241+1G>A	NEBL	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2584582	NM_006393.3(NEBL):c.1338+2377C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2584565	NM_006393.3(NEBL):c.1444A>C (p.Ser482Arg)	NEBL (S482R)	Single nucleotide variant (missense variant +1 more)	NEBL-related Cardiomyopathy	GUncertain significance
Select item 2208544	NM_213569.2(NEBL):c.164+25915T>C	C10orf113, NEBL (M14T)	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2199513	NM_006393.3(NEBL):c.2148+19del	LOC126860875, NEBL	Deletion (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2063531	NM_006393.3(NEBL):c.2148+2T>A	LOC126860875, NEBL	Single nucleotide variant (intron variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2056106	NM_006393.3(NEBL):c.2122A>C (p.Lys708Gln)	LOC126860875, NEBL (K708Q)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2008020	NM_006393.3(NEBL):c.2063A>T (p.Tyr688Phe)	LOC126860875, NEBL (Y688F)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1975958	NM_006393.3(NEBL):c.2147A>G (p.Asn716Ser)	LOC126860875, NEBL (N716S)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1965925	NM_006393.3(NEBL):c.2056-15A>G	LOC126860875, NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1923901	NM_006393.3(NEBL):c.2070A>T (p.Gly690=)	LOC126860875, NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1786632	NM_006393.3(NEBL):c.2144G>A (p.Ser715Asn)	LOC126860875, NEBL (S715N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1786031	NM_006393.3(NEBL):c.2109G>A (p.Glu703=)	LOC126860875, NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1785424	NM_006393.3(NEBL):c.2073A>T (p.Glu691Asp)	LOC126860875, NEBL (E691D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1625700	NM_006393.3(NEBL):c.2148+19C>A	LOC126860875, NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1519384	NM_006393.3(NEBL):c.2092A>G (p.Ile698Val)	LOC126860875, NEBL (I698V)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1467713	NM_213569.2(NEBL):c.358-4751_358-4740del	LOC126860875, NEBL	Deletion (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1441531	NM_006393.3(NEBL):c.2148+1G>A	LOC126860875, NEBL	Single nucleotide variant (intron variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1413118	NM_006393.3(NEBL):c.2105C>T (p.Pro702Leu)	LOC126860875, NEBL (P702L)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1318446	NM_213569.2(NEBL):c.-241GAGCCG[2]	NEBL, NEBL-AS1	Microsatellite (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1318094	NM_001377326.1(NEBL):c.-39-2001G>A	NEBL, NEBL-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237015	NM_006393.3(NEBL):c.2148+280A>G	LOC126860875, NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 977376	NM_006393.3(NEBL):c.1228-1338del	NEBL	Deletion (intron variant)	Atrial fibrillation	GUncertain significance
Select item 962199	NM_006393.3(NEBL):c.2108A>G (p.Glu703Gly)	LOC126860875, NEBL (E703G)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 940255	NM_006393.3(NEBL):c.2066A>G (p.Lys689Arg)	LOC126860875, NEBL (K689R)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 842517	NM_006393.3(NEBL):c.2110C>G (p.Leu704Val)	LOC126860875, NEBL (L704V)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 698792	NM_006393.3(NEBL):c.2139C>T (p.Asn713=)	LOC126860875, NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 687369	GRCh37/hg19 10p12.31(chr10:21159723-21284409)x3	NEBL	Copy number gain	not provided	GUncertain significance
Select item 684900	GRCh37/hg19 10p12.31(chr10:21164208-21184413)x3	NEBL	Copy number gain	not provided	GUncertain significance
Select item 676594	NM_006393.3(NEBL):c.2148+209A>G	LOC126860875, NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 563747	GRCh37/hg19 10p12.31(chr10:20648237-21129533)x3	NEBL	Copy number gain	not provided	GUncertain significance
Select item 412259	NM_006393.3(NEBL):c.2104C>T (p.Pro702Ser)	LOC126860875, NEBL (P702S)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 201909	NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr)	LOC126860875, NEBL (P701T)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 178829	NM_006393.3(NEBL):c.2056-13T>G	LOC126860875, NEBL	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 164744	NM_006393.3(NEBL):c.2148+4T>C	LOC126860875, NEBL	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 152656	GRCh38/hg38 10p12.31(chr10:20906254-20910631)x1	NEBL	Copy number loss	See cases	GBenign
Select item 45491	NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)	LOC126860875, NEBL (R694W)	Single nucleotide variant (missense variant +1 more)	NEBL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 45490	NM_006393.3(NEBL):c.2057T>C (p.Val686Ala)	LOC126860875, NEBL (V686A)	Single nucleotide variant (missense variant +1 more)	NEBL-related condition +3 more	GBenign/Likely benign

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Links from Gene

Items: 41