ClinVar for MedGen (Select 414111) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066358	NM_182914.3(SYNE2):c.19056+3A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3027458	NM_182914.3(SYNE2):c.14530G>T (p.Asp4844Tyr)	SYNE2 (D4844Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3027440	NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs)	SYNE2 (K5178fs)	Microsatellite (frameshift variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely pathogenic
Select item 3023485	NM_182914.3(SYNE2):c.15909C>A (p.Ser5303Arg)	SYNE2 (S5303R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3023141	NM_182914.3(SYNE2):c.20608C>T (p.Leu6870Phe)	SYNE2 (L6848F +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3021494	NM_182914.3(SYNE2):c.13707+16C>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3021086	NM_182914.3(SYNE2):c.9508T>C (p.Ser3170Pro)	SYNE2 (S3170P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3020043	NM_182914.3(SYNE2):c.13280+20_13280+21del	SYNE2	Microsatellite (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3019695	NM_182914.3(SYNE2):c.9979C>T (p.Leu3327=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3019683	NM_182914.3(SYNE2):c.8264C>G (p.Pro2755Arg)	SYNE2 (P2755R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3019256	NM_182914.3(SYNE2):c.18606G>T (p.Arg6202=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3017987	NM_182914.3(SYNE2):c.5040A>G (p.Glu1680=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3017648	NM_182914.3(SYNE2):c.9870A>G (p.Glu3290=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3017329	NM_182914.3(SYNE2):c.15216G>A (p.Met5072Ile)	SYNE2 (M5072I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3017326	NM_182914.3(SYNE2):c.6879+17A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3017136	NM_182914.3(SYNE2):c.13128C>G (p.Phe4376Leu)	SYNE2 (F4376L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3016549	NM_182914.3(SYNE2):c.17557G>A (p.Glu5853Lys)	SYNE2 (E5853K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3015729	NM_182914.3(SYNE2):c.19860+16G>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3015646	NM_182914.3(SYNE2):c.2652A>G (p.Ala884=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3015622	NM_182914.3(SYNE2):c.12307-16G>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3014768	NM_182914.3(SYNE2):c.18098A>C (p.Asn6033Thr)	SYNE2 (N6033T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3014767	NM_182914.3(SYNE2):c.7156G>A (p.Val2386Met)	SYNE2 (V2386M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3014263	NM_182914.3(SYNE2):c.19986C>G (p.Ser6662Arg)	SYNE2 (S6639R +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3014229	NM_182914.3(SYNE2):c.14146C>T (p.Leu4716Phe)	SYNE2 (L4716F)	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 3013156	NM_182914.3(SYNE2):c.8309T>C (p.Val2770Ala)	SYNE2 (V2770A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3012584	NM_182914.3(SYNE2):c.17235+1_17235+4del	SYNE2	Deletion (splice donor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3012225	NM_182914.3(SYNE2):c.8764A>G (p.Ile2922Val)	SYNE2 (I2922V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3011609	NM_182914.3(SYNE2):c.14561T>G (p.Leu4854Arg)	SYNE2 (L4854R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3010338	NM_182914.3(SYNE2):c.19894T>C (p.Leu6632=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3010187	NM_182914.3(SYNE2):c.12001_12002delinsGT (p.Trp4001Val)	SYNE2 (W4001V)	Indel (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 3009753	NM_182914.3(SYNE2):c.10051G>A (p.Glu3351Lys)	SYNE2 (E3351K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3009499	NM_182914.3(SYNE2):c.15401G>A (p.Arg5134His)	SYNE2 (R5134H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3009206	NM_182914.3(SYNE2):c.1240C>T (p.Gln414Ter)	SYNE2 (Q414*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3007600	NM_182914.3(SYNE2):c.7491G>C (p.Ser2497=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3006371	NM_182914.3(SYNE2):c.16116C>T (p.Ala5372=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3004963	NM_182914.3(SYNE2):c.19644A>G (p.Thr6548=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3003958	NM_182914.3(SYNE2):c.4577+6del	SYNE2	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3003741	NM_182914.3(SYNE2):c.2475C>A (p.Ile825=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 3002836	NM_182914.3(SYNE2):c.17927T>C (p.Met5976Thr)	SYNE2 (M5976T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3001691	NM_182914.3(SYNE2):c.7895T>C (p.Met2632Thr)	SYNE2 (M2632T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3001115	NM_182914.3(SYNE2):c.11023A>T (p.Ile3675Phe)	SYNE2 (I3675F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3001100	NM_182914.3(SYNE2):c.16718G>T (p.Arg5573Leu)	SYNE2 (R5573L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3000130	NM_182914.3(SYNE2):c.2672A>G (p.Lys891Arg)	SYNE2 (K891R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3000077	NM_182914.3(SYNE2):c.17236-6T>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2999231	NM_182914.3(SYNE2):c.17713-4G>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2997948	NM_182914.3(SYNE2):c.12609+14G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2997676	NM_182914.3(SYNE2):c.5776A>G (p.Lys1926Glu)	SYNE2 (K1926E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2996965	NM_182914.3(SYNE2):c.12757C>G (p.Gln4253Glu)	SYNE2 (Q4253E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2995193	NM_182914.3(SYNE2):c.20517-15C>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2994539	NM_182914.3(SYNE2):c.12295T>C (p.Ser4099Pro)	SYNE2 (S4099P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2994063	NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln)	SYNE2 (R3421Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2993962	NM_182914.3(SYNE2):c.18030C>T (p.Ile6010=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2992661	NM_182914.3(SYNE2):c.10566G>T (p.Glu3522Asp)	SYNE2 (E3522D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2992561	NM_182914.3(SYNE2):c.4194C>G (p.Ser1398=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2992329	NM_182914.3(SYNE2):c.8902T>C (p.Leu2968=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2991128	NM_182914.3(SYNE2):c.9683C>T (p.Thr3228Ile)	SYNE2 (T3228I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2991127	NM_182914.3(SYNE2):c.9576T>G (p.Cys3192Trp)	SYNE2 (C3192W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2989932	NM_182914.3(SYNE2):c.4941G>A (p.Leu1647=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2989622	NM_182914.3(SYNE2):c.7875TGA[1] (p.Asp2626del)	SYNE2 (D2626del)	Microsatellite (inframe_deletion)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2988420	NM_182914.3(SYNE2):c.1293+18A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2987806	NM_182914.3(SYNE2):c.16410C>T (p.Gly5470=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2985730	NM_182914.3(SYNE2):c.19402+11G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2984977	NM_182914.3(SYNE2):c.13664G>C (p.Arg4555Thr)	SYNE2 (R4555T)	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 2981162	NM_182914.3(SYNE2):c.18653T>C (p.Met6218Thr)	SYNE2 (M6218T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2980865	NM_182914.3(SYNE2):c.2314-12T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2980804	NM_182914.3(SYNE2):c.1837-20G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2979899	NM_182914.3(SYNE2):c.7194G>A (p.Lys2398=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2977856	NM_182914.3(SYNE2):c.20160G>T (p.Arg6720=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2977827	NM_182914.3(SYNE2):c.11793+10G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2973241	NM_182914.3(SYNE2):c.13708-14C>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2973137	NM_182914.3(SYNE2):c.17964A>G (p.Arg5988=)	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 2971628	NM_182914.3(SYNE2):c.1167C>T (p.Pro389=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2970021	NM_182914.3(SYNE2):c.20116C>A (p.Arg6706=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2970020	NM_182914.3(SYNE2):c.2165A>G (p.His722Arg)	SYNE2 (H722R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2968228	NM_182914.3(SYNE2):c.20062-4dup	SYNE2 (K209* +1 more)	Duplication (nonsense +1 more)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 2968208	NM_182914.3(SYNE2):c.10698-12G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2967897	NM_182914.3(SYNE2):c.10740T>C (p.Thr3580=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2966702	NM_182914.3(SYNE2):c.18951G>A (p.Leu6317=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2966193	NM_182914.3(SYNE2):c.2304A>G (p.Glu768=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2966099	NM_182914.3(SYNE2):c.15963+12A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2966076	NM_182914.3(SYNE2):c.19538C>T (p.Pro6513Leu)	SYNE2 (P147L +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2965199	NM_182914.3(SYNE2):c.6916T>C (p.Leu2306=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2964928	NM_182914.3(SYNE2):c.1320T>C (p.His440=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2964186	NM_182914.3(SYNE2):c.3611G>A (p.Arg1204Lys)	SYNE2 (R1204K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2963029	NM_182914.3(SYNE2):c.12492+13_12492+14dup	SYNE2	Duplication (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2962585	NM_182914.3(SYNE2):c.15129A>G (p.Gln5043=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2962579	NM_182914.3(SYNE2):c.11023-20C>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2961489	NM_182914.3(SYNE2):c.12620C>T (p.Pro4207Leu)	SYNE2 (P4207L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
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 2959838	NM_182914.3(SYNE2):c.6250A>C (p.Lys2084Gln)	SYNE2 (K2084Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2959113	NM_182914.3(SYNE2):c.16066G>A (p.Glu5356Lys)	SYNE2 (E5356K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2958917	NM_182914.3(SYNE2):c.9825C>T (p.Leu3275=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2958226	NM_182914.3(SYNE2):c.1860G>C (p.Gln620His)	SYNE2 (Q620H)	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 2956376	NM_182914.3(SYNE2):c.10432-7G>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2956086	NM_182914.3(SYNE2):c.18943G>A (p.Glu6315Lys)	SYNE2 (E6315K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2955577	NM_182914.3(SYNE2):c.8798A>G (p.Asn2933Ser)	SYNE2 (N2933S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance

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