"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930669	NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys)	SYNE2 (N1653K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 930853	NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys)	SYNE2 (Q1787K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 930529	NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)	SYNE2 (Q3167H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 930622	NM_182914.3(SYNE2):c.10432-17T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign/Likely benign
Select item 931335	NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly)	SYNE2 (E5517G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 930264	NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu)	SYNE2 (R6002L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 930438	NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu)	SYNE2 (P6824L +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance