"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SYNE2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1560213	NM_182914.3(SYNE2):c.888+17A>G	SYNE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 281246	NM_182914.3(SYNE2):c.2647-4_2647-3dup	SYNE2	Duplication (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 313497	NM_182914.3(SYNE2):c.2803T>C (p.Leu935=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GBenign/Likely benign
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 130515	NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met)	SYNE2 (T2866M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GBenign/Likely benign
Select item 130517	NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr)	SYNE2 (I3008T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 648931	NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp)	SYNE2 (R3081W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 197604	NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg)	SYNE2 (K3095R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance
Select item 313573	NM_182914.3(SYNE2):c.12492+12C>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign/Likely benign
Select item 948478	NM_182914.3(SYNE2):c.13159-7A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 283988	NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile)	SYNE2 (V5261I)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign/Likely benign
Select item 448627	NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr)	SYNE2 (S5474T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 313623	NM_182914.3(SYNE2):c.16479+15T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign/Likely benign
Select item 193779	NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)	SYNE2 (R6379C +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 282166	NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln)	SYNE2 (R6706Q +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign/Likely benign
Select item 448630	NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu)	SYNE2 (S400E +3 more)	Indel (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GUncertain significance