"Revvity Omics, Revvity"[submitter] AND "SYNE2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 313484	NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)	SYNE2 (D118V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2436797	NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)	SYNE2 (P121T)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 2436808	NM_182914.3(SYNE2):c.652G>A (p.Ala218Thr)	SYNE2 (A218T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 1017587	NM_182914.3(SYNE2):c.690G>C (p.Met230Ile)	SYNE2 (M230I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 538337	NM_182914.3(SYNE2):c.865C>T (p.Pro289Ser)	SYNE2 (P289S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436786	NM_182914.3(SYNE2):c.886C>A (p.Gln296Lys)	SYNE2 (Q296K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 470987	NM_182914.3(SYNE2):c.892A>C (p.Lys298Gln)	SYNE2 (K298Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 470914	NM_182914.3(SYNE2):c.1060C>T (p.Arg354Trp)	SYNE2 (R354W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1027049	NM_182914.3(SYNE2):c.1063G>T (p.Asp355Tyr)	SYNE2 (D355Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2436791	NM_182914.3(SYNE2):c.1067T>C (p.Leu356Pro)	SYNE2 (L356P)	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 283981	NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)	SYNE2 (N385S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 2436774	NM_182914.3(SYNE2):c.1171C>A (p.Pro391Thr)	SYNE2 (P391T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 855678	NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)	SYNE2 (D415Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436864	NM_182914.3(SYNE2):c.1248C>G (p.His416Gln)	SYNE2 (H416Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	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 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 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 2195383	NM_182914.3(SYNE2):c.1388T>G (p.Leu463Trp)	SYNE2 (L463W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 702774	NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys)	SYNE2 (E483K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2081255	NM_182914.3(SYNE2):c.1460A>G (p.Tyr487Cys)	SYNE2 (Y487C)	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 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 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 313490	NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser)	SYNE2 (F615S)	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 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 313494	NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)	SYNE2 (L757S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1256350	NM_182914.3(SYNE2):c.2296A>G (p.Met766Val)	SYNE2 (M766V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 855217	NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val)	SYNE2 (E767V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1358718	NM_182914.3(SYNE2):c.2313+1G>A	SYNE2	Single nucleotide variant (splice donor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 653046	NM_182914.3(SYNE2):c.2347C>T (p.Leu783Phe)	SYNE2 (L783F)	Single nucleotide variant (missense 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 2068106	NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)	SYNE2 (T810S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	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 805598	NM_182914.3(SYNE2):c.2472G>T (p.Gln824His)	SYNE2 (Q824H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 313495	NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)	SYNE2 (N826S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GConflicting classifications of pathogenicity
Select item 1595866	NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)	SYNE2 (A833G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GConflicting classifications of pathogenicity
Select item 862050	NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)	SYNE2 (S853C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2436840	NM_182914.3(SYNE2):c.2563A>G (p.Lys855Glu)	SYNE2 (K855E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1935984	NM_182914.3(SYNE2):c.2591C>T (p.Ala864Val)	SYNE2 (A864V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2436826	NM_182914.3(SYNE2):c.2596C>A (p.Gln866Lys)	SYNE2 (Q866K)	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 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 2150175	NM_182914.3(SYNE2):c.2650G>A (p.Ala884Thr)	SYNE2 (A884T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 282271	NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)	SYNE2 (N889D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 538331	NM_182914.3(SYNE2):c.3267T>G (p.Phe1089Leu)	SYNE2 (F1089L)	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 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 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 954295	NM_182914.3(SYNE2):c.3368G>A (p.Arg1123Lys)	SYNE2 (R1123K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1921809	NM_182914.3(SYNE2):c.3407G>T (p.Arg1136Met)	SYNE2 (R1136M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436813	NM_182914.3(SYNE2):c.3416C>T (p.Ser1139Phe)	SYNE2 (S1139F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 282514	NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)	SYNE2 (R1169H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1716080	NM_182914.3(SYNE2):c.3550G>C (p.Val1184Leu)	SYNE2 (V1184L)	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 880975	NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)	SYNE2 (R1222W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GConflicting classifications of pathogenicity
Select item 313504	NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His)	SYNE2 (R1256H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign/Likely benign
Select item 282100	NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys)	SYNE2 (Y1258C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 579527	NM_182914.3(SYNE2):c.3806C>T (p.Ala1269Val)	SYNE2 (A1269V)	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 969597	NM_182914.3(SYNE2):c.3824G>A (p.Cys1275Tyr)	SYNE2 (C1275Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 282516	NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)	SYNE2 (R1277H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 283207	NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)	SYNE2 (R1393Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 861035	NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)	SYNE2 (S1411P)	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 1491989	NM_182914.3(SYNE2):c.4394A>G (p.His1465Arg)	SYNE2 (H1465R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436783	NM_182914.3(SYNE2):c.4396C>T (p.Arg1466Trp)	SYNE2 (R1466W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436837	NM_182914.3(SYNE2):c.4457A>G (p.His1486Arg)	SYNE2 (H1486R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1966247	NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)	SYNE2 (V1533F)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 538343	NM_182914.3(SYNE2):c.4861A>C (p.Asn1621His)	SYNE2 (N1621H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1334085	NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del)	SYNE2 (I1623del)	Microsatellite (inframe_deletion)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1469746	NM_182914.3(SYNE2):c.4906G>A (p.Asp1636Asn)	SYNE2 (D1636N)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 286154	NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)	SYNE2 (Y1637C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 313509	NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)	SYNE2 (Y1638H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2436820	NM_182914.3(SYNE2):c.4936G>C (p.Ala1646Pro)	SYNE2 (A1646P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2436793	NM_182914.3(SYNE2):c.4967A>C (p.Asn1656Thr)	SYNE2 (N1656T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1540930	NM_182914.3(SYNE2):c.5045T>C (p.Leu1682Pro)	SYNE2 (L1682P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2436775	NM_182914.3(SYNE2):c.5107A>G (p.Ile1703Val)	SYNE2 (I1703V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 448633	NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)	SYNE2 (M1719V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 470978	NM_182914.3(SYNE2):c.5174A>G (p.Asn1725Ser)	SYNE2 (N1725S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2436772	NM_182914.3(SYNE2):c.5240C>T (p.Thr1747Ile)	SYNE2 (T1747I)	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 197053	NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)	SYNE2 (K1859E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1620575	NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)	SYNE2 (V1897I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 313519	NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)	SYNE2 (K1965E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GConflicting classifications of pathogenicity
Select item 2436784	NM_182914.3(SYNE2):c.5894A>C (p.Lys1965Thr)	SYNE2 (K1965T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 945619	NM_182914.3(SYNE2):c.6056T>G (p.Met2019Arg)	SYNE2 (M2019R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1398462	NM_182914.3(SYNE2):c.6064T>C (p.Tyr2022His)	SYNE2 (Y2022H)	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

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