16932[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 57885	GRCh38/hg38 10p12.31(chr10:20776151-21435636)x3	C10orf113, LINC02643 +12 more	Copy number gain	See cases	GUncertain significance
Select item 1244881	NM_006393.3(NEBL):c.*221A>G	NEBL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 179556	NM_006393.3(NEBL):c.*4T>A	NEBL	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 1518227	NM_006393.3(NEBL):c.3043T>C (p.Ter1015Gln)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2563744	NM_006393.3(NEBL):c.3036T>G (p.Phe1012Leu)	NEBL (F1012L +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1965229	NM_006393.3(NEBL):c.3036T>C (p.Phe1012=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1507412	NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys)	NEBL (E251K +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1047630	NM_006393.3(NEBL):c.3028A>G (p.Ile1010Val)	NEBL (I1010V +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1798925	NM_006393.3(NEBL):c.3021G>A (p.Ala1007=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +1 more	GBenign/Likely benign
Select item 1798913	NM_006393.3(NEBL):c.3020C>A (p.Ala1007Glu)	NEBL (A1007E +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2707013	NM_006393.3(NEBL):c.3013C>T (p.Leu1005Phe)	NEBL (L1005F +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 45497	NM_006393.3(NEBL):c.2997A>G (p.Thr999=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1798426	NM_006393.3(NEBL):c.2985A>C (p.Thr995=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1116106	NM_006393.3(NEBL):c.2985A>G (p.Thr995=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 2625788	NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 1798215	NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)	NEBL (D223G +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2186909	NM_006393.3(NEBL):c.2965G>A (p.Asp989Asn)	NEBL (D223N +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 392612	NM_006393.3(NEBL):c.2964C>T (p.Asp988=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 240651	NM_006393.3(NEBL):c.2959A>G (p.Ile987Val)	NEBL (I243V +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3225574	NM_006393.3(NEBL):c.2958T>A (p.Pro986=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3225573	NM_006393.3(NEBL):c.2956C>T (p.Pro986Ser)	NEBL (P206S +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1026451	NM_006393.3(NEBL):c.2955G>T (p.Gln985His)	NEBL (Q205H +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1798001	NM_006393.3(NEBL):c.2949C>T (p.Asn983=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1009533	NM_006393.3(NEBL):c.2947A>G (p.Asn983Asp)	NEBL (N203D +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3225572	NM_006393.3(NEBL):c.2945T>C (p.Val982Ala)	NEBL (V202A +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2561725	NM_006393.3(NEBL):c.2944G>A (p.Val982Ile)	NEBL (V202I +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1797939	NM_006393.3(NEBL):c.2943C>A (p.Ile981=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 702535	NM_006393.3(NEBL):c.2943C>T (p.Ile981=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 2957307	NM_006393.3(NEBL):c.2935G>A (p.Asp979Asn)	NEBL (D216N +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2724745	NM_006393.3(NEBL):c.2934C>T (p.Gly978=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 971700	NM_006393.3(NEBL):c.2932G>A (p.Gly978Ser)	NEBL (G218S +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 761763	NM_006393.3(NEBL):c.2931C>T (p.Asp977=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 452448	NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys)	NEBL (E228K +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 164734	NM_006393.3(NEBL):c.2913C>T (p.Asp971=)	NEBL	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1508820	NM_006393.3(NEBL):c.2906A>G (p.Asp969Gly)	NEBL (D209G +6 more)	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 640695	NM_006393.3(NEBL):c.2905G>T (p.Asp969Tyr)	NEBL (D225Y +7 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2448885	NM_006393.3(NEBL):c.2903A>G (p.Gln968Arg)	NEBL (Q188R +6 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2065660	NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile)	NEBL (S186I +7 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1542046	NM_006393.3(NEBL):c.2895C>T (p.Tyr965=)	NEBL (Q221*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 2201576	NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn)	NEBL (D201N +7 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 517956	NM_006393.3(NEBL):c.2889C>T (p.Tyr963=)	NEBL (R219*)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GLikely benign
Select item 2633313	NM_006393.3(NEBL):c.2876A>G (p.Tyr959Cys)	NEBL (Y179C +6 more)	Single nucleotide variant (synonymous variant +1 more)	NEBL-related disorder	GUncertain significance
Select item 2130192	NM_006393.3(NEBL):c.2869-9C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 417184	NM_006393.3(NEBL):c.2869-10C>G	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1579741	NM_006393.3(NEBL):c.2869-15T>A	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1643902	NM_006393.3(NEBL):c.2869-16C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 678109	NM_006393.3(NEBL):c.2869-232C>G	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671440	NM_006393.3(NEBL):c.2868+31G>T	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1566883	NM_006393.3(NEBL):c.2868+20G>A	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1579474	NM_006393.3(NEBL):c.2868+19C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1591288	NM_006393.3(NEBL):c.2868+11A>C	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 384455	NM_006393.3(NEBL):c.2868+9C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 1497785	NM_006393.3(NEBL):c.2868A>G (p.Leu956=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1522923	NM_006393.3(NEBL):c.2864dup (p.Asn955fs)	NEBL (N175fs +6 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1406697	NM_006393.3(NEBL):c.2851C>T (p.Gln951Ter)	NEBL (Q188* +6 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GUncertain significance
Select item 841060	NM_006393.3(NEBL):c.2849T>C (p.Met950Thr)	NEBL (M170T +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1021013	NM_006393.3(NEBL):c.2848A>G (p.Met950Val)	NEBL (M170V +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1796777	NM_006393.3(NEBL):c.2847A>G (p.Ser949=)	NEBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 417190	NM_006393.3(NEBL):c.2847A>T (p.Ser949=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 2198836	NM_006393.3(NEBL):c.2833_2841del (p.Ser945_Met947del)	NEBL	Deletion (inframe_deletion)	Primary dilated cardiomyopathy	GUncertain significance
Select item 579874	NM_006393.3(NEBL):c.2841G>A (p.Met947Ile)	NEBL (M203I +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2078324	NM_006393.3(NEBL):c.2839A>C (p.Met947Leu)	NEBL (M187L +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1796589	NM_006393.3(NEBL):c.2830G>A (p.Val944Met)	NEBL (V181M +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2750599	NM_006393.3(NEBL):c.2823G>A (p.Gln941=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 164735	NM_006393.3(NEBL):c.2820C>T (p.His940=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +1 more	GBenign/Likely benign
Select item 1900734	NM_006393.3(NEBL):c.2816T>A (p.Met939Lys)	NEBL (M159K +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2064184	NM_006393.3(NEBL):c.2814C>T (p.Tyr938=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 1489136	NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys)	NEBL (Y172C +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1796097	NM_006393.3(NEBL):c.2796T>C (p.His932=)	NEBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448881	NM_006393.3(NEBL):c.2785C>G (p.Gln929Glu)	NEBL (Q169E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1020985	NM_006393.3(NEBL):c.2778A>T (p.Gly926=)	NEBL	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2048695	NM_006393.3(NEBL):c.2777G>C (p.Gly926Ala)	NEBL (G213A +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2731370	NM_006393.3(NEBL):c.2776G>A (p.Gly926Arg)	NEBL (G160R +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 227736	NM_006393.3(NEBL):c.2775C>T (p.Pro925=)	NEBL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2996119	NM_006393.3(NEBL):c.2771T>A (p.Leu924His)	NEBL (L211H +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 758340	NM_006393.3(NEBL):c.2762-7C>T	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270787	NM_006393.3(NEBL):c.2762-48G>C	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674103	NM_006393.3(NEBL):c.2762-64T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671175	NM_006393.3(NEBL):c.2762-70G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671229	NM_006393.3(NEBL):c.2762-263T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669430	NM_006393.3(NEBL):c.2762-279del	NEBL	Deletion (intron variant)	not provided	GBenign
Select item 1265035	NM_006393.3(NEBL):c.2762-296G>A	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317839	NM_006393.3(NEBL):c.2762-328A>C	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683678	NM_006393.3(NEBL):c.2761+318C>T	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683677	NM_006393.3(NEBL):c.2761+280T>A	NEBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678540	NM_006393.3(NEBL):c.2761+227C>G	NEBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318352	NM_006393.3(NEBL):c.2761+160dup	NEBL	Duplication (intron variant)	not provided	GLikely benign
Select item 507183	NM_006393.3(NEBL):c.2761+15C>T	NEBL	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 373630	NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro)	NEBL (A921P)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 240649	NM_006393.3(NEBL):c.2757A>G (p.Glu919=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 1543365	NM_006393.3(NEBL):c.2748G>A (p.Pro916=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 227735	NM_006393.3(NEBL):c.2748G>T (p.Pro916=)	NEBL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 454272	NM_006393.3(NEBL):c.2747C>T (p.Pro916Leu)	NEBL (P916L)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 573400	NM_006393.3(NEBL):c.2740A>T (p.Thr914Ser)	NEBL (T914S)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 576459	NM_006393.3(NEBL):c.2737G>A (p.Val913Ile)	NEBL (V913I)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2133476	NM_006393.3(NEBL):c.2734G>A (p.Glu912Lys)	NEBL (E912K)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance

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