"Genomic Research Center, Shahid Beheshti University of Medical Scienc - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548613	NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser)	SYNE2 (P2758S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 587438	NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys)	SYNE2 (F3967C)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 522943	NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr)	SYNE2 (N4013Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 523001	NM_182914.3(SYNE2):c.12609+1G>T	SYNE2	Single nucleotide variant (splice donor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 281790	NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)	SYNE2 (F4843Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 587587	NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln)	SYNE2 (E5853Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 638441	NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser)	SYNE2 (T6885S +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance