C2751805[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1896459	NM_182914.3(SYNE2):c.6A>G (p.Ala2=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 854613	NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)	SYNE2 (S4N)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1151436	NM_182914.3(SYNE2):c.15T>C (p.Pro5=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1014379	NM_182914.3(SYNE2):c.18G>C (p.Glu6Asp)	SYNE2 (E6D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 313482	NM_182914.3(SYNE2):c.22C>T (p.Pro8Ser)	SYNE2 (P8S)	Single nucleotide variant (missense variant)	SYNE2-related condition +1 more	GBenign/Likely benign
Select item 1594959	NM_182914.3(SYNE2):c.27C>T (p.Thr9=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1434405	NM_182914.3(SYNE2):c.28G>A (p.Glu10Lys)	SYNE2 (E10K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 858479	NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)	SYNE2 (E10Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1492656	NM_182914.3(SYNE2):c.39G>T (p.Gln13His)	SYNE2 (Q13H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2041145	NM_182914.3(SYNE2):c.54C>T (p.Ile18=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2407681	NM_182914.3(SYNE2):c.55G>A (p.Asp19Asn)	SYNE2 (D19N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1595213	NM_182914.3(SYNE2):c.57C>T (p.Asp19=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2712491	NM_182914.3(SYNE2):c.58G>A (p.Asp20Asn)	SYNE2 (D20N)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 576861	NM_182914.3(SYNE2):c.58G>T (p.Asp20Tyr)	SYNE2 (D20Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2830009	NM_182914.3(SYNE2):c.66T>C (p.His22=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 862180	NM_182914.3(SYNE2):c.79+3A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 862179	NM_182914.3(SYNE2):c.79+5T>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2044124	NM_182914.3(SYNE2):c.79+19G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 1663635	NM_182914.3(SYNE2):c.80-12732A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 2875991	NM_182914.3(SYNE2):c.80-14T>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2961101	NM_182914.3(SYNE2):c.80-11T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1098968	NM_182914.3(SYNE2):c.80-7T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GLikely benign
Select item 1536498	NM_182914.3(SYNE2):c.80-4A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2721227	NM_182914.3(SYNE2):c.113C>T (p.Thr38Met)	SYNE2 (T38M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1674272	NM_182914.3(SYNE2):c.114G>T (p.Thr38=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 565720	NM_182914.3(SYNE2):c.128C>T (p.Ser43Leu)	SYNE2 (S43L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2728870	NM_182914.3(SYNE2):c.129A>T (p.Ser43=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1994915	NM_182914.3(SYNE2):c.140G>A (p.Arg47Lys)	SYNE2 (R47K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2163590	NM_182914.3(SYNE2):c.141+12A>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2160415	NM_182914.3(SYNE2):c.141+18A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 470935	NM_182914.3(SYNE2):c.144C>T (p.His48=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1406473	NM_182914.3(SYNE2):c.146C>G (p.Thr49Ser)	SYNE2 (T49S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1973778	NM_182914.3(SYNE2):c.147T>C (p.Thr49=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 705670	NM_182914.3(SYNE2):c.165C>T (p.Ser55=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 282835	NM_182914.3(SYNE2):c.169C>T (p.Leu57=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 970571	NM_182914.3(SYNE2):c.199C>T (p.Leu67Phe)	SYNE2 (L67F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1528497	NM_182914.3(SYNE2):c.207T>C (p.Asp69=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2971793	NM_182914.3(SYNE2):c.237+6A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 380714	NM_182914.3(SYNE2):c.237+6A>G	SYNE2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2882842	NM_182914.3(SYNE2):c.237+20C>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 653291	NM_182914.3(SYNE2):c.238C>T (p.Pro80Ser)	SYNE2 (P80S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 999802	NM_182914.3(SYNE2):c.241C>T (p.Arg81Trp)	SYNE2 (R81W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1436924	NM_182914.3(SYNE2):c.242G>A (p.Arg81Gln)	SYNE2 (R81Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2904405	NM_182914.3(SYNE2):c.256A>G (p.Asn86Asp)	SYNE2 (N86D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1362917	NM_182914.3(SYNE2):c.262T>C (p.Phe88Leu)	SYNE2 (F88L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1538694	NM_182914.3(SYNE2):c.276C>T (p.Ile92=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 313483	NM_182914.3(SYNE2):c.280A>G (p.Ile94Val)	SYNE2 (I94V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2715198	NM_182914.3(SYNE2):c.288T>C (p.His96=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2000547	NM_182914.3(SYNE2):c.290C>G (p.Ala97Gly)	SYNE2 (A97G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 962148	NM_182914.3(SYNE2):c.296C>G (p.Thr99Arg)	SYNE2 (T99R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3013727	NM_182914.3(SYNE2):c.297A>G (p.Thr99=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 771649	NM_182914.3(SYNE2):c.303A>G (p.Leu101=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1620325	NM_182914.3(SYNE2):c.315+20A>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1673629	NM_182914.3(SYNE2):c.316-11T>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1056775	NM_182914.3(SYNE2):c.316-2A>G	SYNE2	Single nucleotide variant (splice acceptor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2030698	NM_182914.3(SYNE2):c.330_333del (p.Ile111fs)	SYNE2 (I111fs)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1497299	NM_182914.3(SYNE2):c.332T>C (p.Ile111Thr)	SYNE2 (I111T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2738330	NM_182914.3(SYNE2):c.339T>A (p.Val113=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 313484	NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)	SYNE2 (D118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 706808	NM_182914.3(SYNE2):c.354T>C (p.Asp118=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 644185	NM_182914.3(SYNE2):c.358A>C (p.Asn120His)	SYNE2 (N120H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1085505	NM_182914.3(SYNE2):c.381A>G (p.Leu127=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1626587	NM_182914.3(SYNE2):c.397C>T (p.Leu133=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 130496	NM_182914.3(SYNE2):c.399G>C (p.Leu133=)	SYNE2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1091789	NM_182914.3(SYNE2):c.402C>T (p.His134=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2133616	NM_182914.3(SYNE2):c.407A>T (p.His136Leu)	SYNE2 (H136L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 742692	NM_182914.3(SYNE2):c.408+8G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2875678	NM_182914.3(SYNE2):c.408+15G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1563651	NM_182914.3(SYNE2):c.409-16A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 313485	NM_182914.3(SYNE2):c.418C>G (p.Leu140Val)	SYNE2 (L140V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 861616	NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu)	SYNE2 (Q142E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 283142	NM_182914.3(SYNE2):c.430C>G (p.Leu144Val)	SYNE2 (L144V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1061901	NM_182914.3(SYNE2):c.438C>G (p.Cys146Trp)	SYNE2 (C146W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2748582	NM_182914.3(SYNE2):c.440A>G (p.Asn147Ser)	SYNE2 (N147S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2956979	NM_182914.3(SYNE2):c.446A>G (p.Asn149Ser)	SYNE2 (N149S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2898520	NM_182914.3(SYNE2):c.474G>C (p.Val158=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 566969	NM_182914.3(SYNE2):c.475G>T (p.Val159Phe)	SYNE2 (V159F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2981623	NM_182914.3(SYNE2):c.476T>C (p.Val159Ala)	SYNE2 (V159A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 581588	NM_182914.3(SYNE2):c.478G>A (p.Asp160Asn)	SYNE2 (D160N)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1140687	NM_182914.3(SYNE2):c.489T>C (p.Pro163=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1563727	NM_182914.3(SYNE2):c.495A>G (p.Ser165=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 966046	NM_182914.3(SYNE2):c.515G>T (p.Cys172Phe)	SYNE2 (C172F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 212345	NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg)	SYNE2 (K174R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1478246	NM_182914.3(SYNE2):c.544del (p.Ser182fs)	SYNE2 (S182fs)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2147917	NM_182914.3(SYNE2):c.550A>G (p.Arg184Gly)	SYNE2 (R184G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2202123	NM_182914.3(SYNE2):c.566T>C (p.Leu189Ser)	SYNE2 (L189S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1619889	NM_182914.3(SYNE2):c.585C>T (p.Cys195=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1468399	NM_182914.3(SYNE2):c.586G>A (p.Ala196Thr)	SYNE2 (A196T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1723437	NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)	SYNE2 (T197I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 1045771	NM_182914.3(SYNE2):c.590+6T>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1585771	NM_182914.3(SYNE2):c.590+12G>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 2728696	NM_182914.3(SYNE2):c.590+15A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1591500	NM_182914.3(SYNE2):c.590+20C>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 650218	NM_182914.3(SYNE2):c.593A>G (p.Tyr198Cys)	SYNE2 (Y198C)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 580427	NM_182914.3(SYNE2):c.605A>G (p.Asn202Ser)	SYNE2 (N202S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2856214	NM_182914.3(SYNE2):c.633A>G (p.Arg211=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1997966	NM_182914.3(SYNE2):c.644C>T (p.Ala215Val)	SYNE2 (A215V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1161280	NM_182914.3(SYNE2):c.654C>T (p.Ala218=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1388852	NM_182914.3(SYNE2):c.660T>G (p.Ile220Met)	SYNE2 (I220M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2860958	NM_182914.3(SYNE2):c.670C>T (p.Arg224Ter)	SYNE2 (R224*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance

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