"Baylor Genetics"[submitter] AND "SYNE2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 652482	NM_182914.3(SYNE2):c.2279A>G (p.Asp760Gly)	SYNE2 (D760G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 282534	NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val)	SYNE2 (M1297V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1030385	NM_182914.3(SYNE2):c.8825T>C (p.Ile2942Thr)	SYNE2 (I2942T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 644345	NM_182914.3(SYNE2):c.9610T>G (p.Cys3204Gly)	SYNE2 (C3204G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1030386	NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)	SYNE2 (R3260C)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1029323	NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr)	SYNE2 (N4609T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3238858	NM_182914.3(SYNE2):c.14356C>T (p.Leu4786Phe)	SYNE2 (L4786F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1034418	NM_182914.3(SYNE2):c.15073A>G (p.Thr5025Ala)	SYNE2 (T5025A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 862051	NM_182914.3(SYNE2):c.16905+4A>C	SYNE2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285427	NM_182914.3(SYNE2):c.17554A>C (p.Lys5852Gln)	SYNE2 (K5852Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029324	NM_182914.3(SYNE2):c.20176C>T (p.Arg6726Trp)	SYNE2 (R374W +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance