Related gene-specific medical variations for Gene (Select 23224) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063328	GRCh37/hg19 14q23.2(chr14:64589453-64635085)x1	SYNE2	Copy number loss	not specified	GUncertain significance
Select item 2690213	NM_182914.3(SYNE2):c.7166C>T (p.Ser2389Phe)	SYNE2 (S2389F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2690212	NM_182914.3(SYNE2):c.17189A>G (p.Glu5730Gly)	SYNE2 (E5730G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2690211	NM_182914.3(SYNE2):c.17953A>G (p.Asn5985Asp)	SYNE2 (N5985D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2690210	NM_182914.3(SYNE2):c.11545G>A (p.Glu3849Lys)	SYNE2 (E3849K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2690209	NM_182914.3(SYNE2):c.6553T>C (p.Tyr2185His)	SYNE2 (Y2185H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436905	NM_182914.3(SYNE2):c.8080T>A (p.Trp2694Arg)	SYNE2 (W2694R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436904	NM_182914.3(SYNE2):c.2151+1G>T	SYNE2	Single nucleotide variant (splice donor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436903	NM_182914.3(SYNE2):c.14292_14296del (p.Lys4764fs)	SYNE2 (K4764fs)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436902	NM_182914.3(SYNE2):c.1269A>G (p.Ile423Met)	SYNE2 (I423M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436901	NM_182914.3(SYNE2):c.7112G>T (p.Gly2371Val)	SYNE2 (G2371V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436900	NM_182914.3(SYNE2):c.3190C>T (p.Pro1064Ser)	SYNE2 (P1064S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436898	NM_182914.3(SYNE2):c.9925C>T (p.His3309Tyr)	SYNE2 (H3309Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436897	NM_182914.3(SYNE2):c.3319G>T (p.Asp1107Tyr)	SYNE2 (D1107Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436896	NM_182914.3(SYNE2):c.359A>G (p.Asn120Ser)	SYNE2 (N120S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436895	NM_182914.3(SYNE2):c.1294-3C>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436894	NM_182914.3(SYNE2):c.16094+1G>A	SYNE2	Single nucleotide variant (splice donor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436893	NM_182914.3(SYNE2):c.9328A>G (p.Thr3110Ala)	SYNE2 (T3110A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436892	NM_182914.3(SYNE2):c.6153T>G (p.His2051Gln)	SYNE2 (H2051Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436891	NM_182914.3(SYNE2):c.3643G>A (p.Glu1215Lys)	SYNE2 (E1215K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436889	NM_182914.3(SYNE2):c.5503C>A (p.His1835Asn)	SYNE2 (H1835N)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436888	NM_182914.3(SYNE2):c.2647-2A>G	SYNE2	Single nucleotide variant (splice acceptor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436887	NM_182914.3(SYNE2):c.20500G>A (p.Glu6834Lys)	SYNE2 (E356K +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436886	NM_182914.3(SYNE2):c.12965T>C (p.Val4322Ala)	SYNE2 (V4322A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436885	NM_182914.3(SYNE2):c.14239A>C (p.Met4747Leu)	SYNE2 (M4747L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436884	NM_182914.3(SYNE2):c.17653A>G (p.Met5885Val)	SYNE2 (M5885V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436883	NM_182914.3(SYNE2):c.10046C>T (p.Ala3349Val)	SYNE2 (A3349V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436882	NM_182914.3(SYNE2):c.17026A>G (p.Lys5676Glu)	SYNE2 (K5676E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436881	NM_182914.3(SYNE2):c.19802A>G (p.Lys6601Arg)	SYNE2 (K109R +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436880	NM_182914.3(SYNE2):c.12229G>A (p.Gly4077Arg)	SYNE2 (G4077R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436879	NM_182914.3(SYNE2):c.18103C>A (p.Arg6035Ser)	SYNE2 (R6035S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436878	NM_182914.3(SYNE2):c.8513A>G (p.Asn2838Ser)	SYNE2 (N2838S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436877	NM_182914.3(SYNE2):c.12307-2A>G	SYNE2	Single nucleotide variant (splice acceptor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436876	NM_182914.3(SYNE2):c.20470-1G>T	SYNE2 (Q472H +1 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436875	NM_182914.3(SYNE2):c.12244A>G (p.Arg4082Gly)	SYNE2 (R4082G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436874	NM_182914.3(SYNE2):c.124A>G (p.Asn42Asp)	SYNE2 (N42D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436873	NM_182914.3(SYNE2):c.11011A>G (p.Ile3671Val)	SYNE2 (I3671V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436872	NM_182914.3(SYNE2):c.10442A>G (p.Glu3481Gly)	SYNE2 (E3481G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436871	NM_182914.3(SYNE2):c.6992A>G (p.Asp2331Gly)	SYNE2 (D2331G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436870	NM_182914.3(SYNE2):c.16169A>G (p.Tyr5390Cys)	SYNE2 (Y5390C)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436869	NM_182914.3(SYNE2):c.2644A>G (p.Lys882Glu)	SYNE2 (K882E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436868	NM_182914.3(SYNE2):c.19933C>G (p.Gln6645Glu)	SYNE2 (Q153E +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436867	NM_182914.3(SYNE2):c.6766G>A (p.Val2256Ile)	SYNE2 (V2256I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436866	NM_182914.3(SYNE2):c.6728A>C (p.Asn2243Thr)	SYNE2 (N2243T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436865	NM_182914.3(SYNE2):c.8372A>G (p.Asp2791Gly)	SYNE2 (D2791G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436862	NM_182914.3(SYNE2):c.2119G>C (p.Glu707Gln)	SYNE2 (E707Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436861	NM_182914.3(SYNE2):c.18877A>G (p.Ile6293Val)	SYNE2 (I6293V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436860	NM_182914.3(SYNE2):c.15779G>C (p.Ser5260Thr)	SYNE2 (S5260T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436859	NM_182914.3(SYNE2):c.1816A>C (p.Lys606Gln)	SYNE2 (K606Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436858	NM_182914.3(SYNE2):c.10090T>G (p.Tyr3364Asp)	SYNE2 (Y3364D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436857	NM_182914.3(SYNE2):c.1700T>C (p.Val567Ala)	SYNE2 (V567A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436856	NM_182914.3(SYNE2):c.11324G>A (p.Cys3775Tyr)	SYNE2 (C3775Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436855	NM_182914.3(SYNE2):c.1338C>T (p.Thr446=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436853	NM_182914.3(SYNE2):c.19403-1G>C	SYNE2	Single nucleotide variant (5 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436852	NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)	SYNE2 (K4072R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436851	NM_182914.3(SYNE2):c.14986A>G (p.Lys4996Glu)	SYNE2 (K4996E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436850	NM_182914.3(SYNE2):c.18826G>A (p.Glu6276Lys)	SYNE2 (E6276K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436849	NM_182914.3(SYNE2):c.15277C>G (p.Gln5093Glu)	SYNE2 (Q5093E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436848	NM_182914.3(SYNE2):c.8621A>G (p.His2874Arg)	SYNE2 (H2874R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436847	NM_182914.3(SYNE2):c.7858C>T (p.Gln2620Ter)	SYNE2 (Q2620*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436846	NM_182914.3(SYNE2):c.1168C>T (p.Pro390Ser)	SYNE2 (P390S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436845	NM_182914.3(SYNE2):c.1129-3C>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436844	NM_182914.3(SYNE2):c.18601C>T (p.Arg6201Trp)	SYNE2 (R6201W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436843	NM_182914.3(SYNE2):c.4607T>C (p.Leu1536Pro)	SYNE2 (L1536P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436842	NM_182914.3(SYNE2):c.17083G>A (p.Val5695Ile)	SYNE2 (V5695I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436841	NM_182914.3(SYNE2):c.16729C>T (p.Arg5577Trp)	SYNE2 (R5577W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436839	NM_182914.3(SYNE2):c.6569A>G (p.Lys2190Arg)	SYNE2 (K2190R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436838	NM_182914.3(SYNE2):c.4278C>G (p.Asn1426Lys)	SYNE2 (N1426K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436836	NM_182914.3(SYNE2):c.15307G>C (p.Glu5103Gln)	SYNE2 (E5103Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436835	NM_182914.3(SYNE2):c.3809A>G (p.Lys1270Arg)	SYNE2 (K1270R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436834	NM_182914.3(SYNE2):c.3361A>G (p.Thr1121Ala)	SYNE2 (T1121A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436833	NM_182914.3(SYNE2):c.2431G>A (p.Gly811Arg)	SYNE2 (G811R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436831	NM_182914.3(SYNE2):c.2950T>G (p.Ser984Ala)	SYNE2 (S984A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436830	NM_182914.3(SYNE2):c.20635G>C (p.Glu6879Gln)	SYNE2 (E401Q +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436829	NM_182914.3(SYNE2):c.6829G>C (p.Asp2277His)	SYNE2 (D2277H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436828	NM_182914.3(SYNE2):c.8960G>A (p.Arg2987Lys)	SYNE2 (R2987K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436827	NM_182914.3(SYNE2):c.10639G>A (p.Ala3547Thr)	SYNE2 (A3547T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436824	NM_182914.3(SYNE2):c.10948T>C (p.Tyr3650His)	SYNE2 (Y3650H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436823	NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)	SYNE2 (E6221K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436822	NM_182914.3(SYNE2):c.419T>G (p.Leu140Arg)	SYNE2 (L140R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436819	NM_182914.3(SYNE2):c.10029G>A (p.Met3343Ile)	SYNE2 (M3343I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436818	NM_182914.3(SYNE2):c.15763T>C (p.Phe5255Leu)	SYNE2 (F5255L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436817	NM_182914.3(SYNE2):c.3334A>G (p.Ile1112Val)	SYNE2 (I1112V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436816	NM_182914.3(SYNE2):c.18796C>G (p.Leu6266Val)	SYNE2 (L6266V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436815	NM_182914.3(SYNE2):c.11876C>G (p.Thr3959Arg)	SYNE2 (T3959R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436812	NM_182914.3(SYNE2):c.13945C>T (p.Leu4649Phe)	SYNE2 (L4649F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436811	NM_182914.3(SYNE2):c.15115A>G (p.Met5039Val)	SYNE2 (M5039V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436810	NM_182914.3(SYNE2):c.1595T>C (p.Leu532Pro)	SYNE2 (L532P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436809	NM_182914.3(SYNE2):c.11977-4A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436807	NM_182914.3(SYNE2):c.7943A>G (p.His2648Arg)	SYNE2 (H2648R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436806	NM_182914.3(SYNE2):c.18039-3T>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436805	NM_182914.3(SYNE2):c.11498del (p.Asp3833fs)	SYNE2 (D3833fs)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436804	NM_182914.3(SYNE2):c.2386C>G (p.Gln796Glu)	SYNE2 (Q796E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436803	NM_182914.3(SYNE2):c.8260A>G (p.Ile2754Val)	SYNE2 (I2754V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436802	NM_182914.3(SYNE2):c.17592C>G (p.Asn5864Lys)	SYNE2 (N5864K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436801	NM_182914.3(SYNE2):c.4651A>G (p.Ile1551Val)	SYNE2 (I1551V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436800	NM_182914.3(SYNE2):c.15274T>C (p.Ser5092Pro)	SYNE2 (S5092P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436799	NM_182914.3(SYNE2):c.16364G>T (p.Arg5455Leu)	SYNE2 (R5455L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436798	NM_182914.3(SYNE2):c.19946C>T (p.Pro6649Leu)	SYNE2 (P157L +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436796	NM_182914.3(SYNE2):c.6830A>T (p.Asp2277Val)	SYNE2 (D2277V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance

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