"Genome-Nilou Lab"[submitter] AND "SYNE2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1295572	NM_182914.3(SYNE2):c.79+40G>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 1267289	NM_182914.3(SYNE2):c.591-45G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 1227685	NM_182914.3(SYNE2):c.2473-22T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 1174690	NM_182914.3(SYNE2):c.2647-3dup	SYNE2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 130501	NM_182914.3(SYNE2):c.5906T>C (p.Met1969Thr)	SYNE2 (M1969T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130503	NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 130504	NM_182914.3(SYNE2):c.6851C>T (p.Ala2284Val)	SYNE2 (A2284V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130508	NM_182914.3(SYNE2):c.7076G>A (p.Ser2359Asn)	SYNE2 (S2359N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 130511	NM_182914.3(SYNE2):c.7183G>A (p.Ala2395Thr)	SYNE2 (A2395T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130513	NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly)	SYNE2 (S2802G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130516	NM_182914.3(SYNE2):c.8824A>G (p.Ile2942Val)	SYNE2 (I2942V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GBenign
Select item 1262569	NM_182914.3(SYNE2):c.9744+41G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 130520	NM_182914.3(SYNE2):c.9757G>C (p.Asp3253His)	SYNE2 (D3253H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 130521	NM_182914.3(SYNE2):c.9926A>G (p.His3309Arg)	SYNE2 (H3309R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1230412	NM_182914.3(SYNE2):c.10213-43A>G	SYNE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1237890	NM_182914.3(SYNE2):c.10697+29G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 1334914	NM_182914.3(SYNE2):c.10697+35T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 1266252	NM_182914.3(SYNE2):c.12381+43T>C	SYNE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 130480	NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met)	SYNE2 (L5186M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130485	NM_182914.3(SYNE2):c.17202C>A (p.Leu5734=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 130488	NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=)	SYNE2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1255262	NM_182914.3(SYNE2):c.18390-48A>G	SYNE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 130489	NM_182914.3(SYNE2):c.19333+5C>T	SYNE2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 130490	NM_182914.3(SYNE2):c.19857G>T (p.Leu6619=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

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Items: 24