"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982972	NM_182914.3(SYNE2):c.18165T>A (p.Asp6055Glu)	SYNE2 (D6055E)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2324	NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)	SYNE2 (T6211M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +3 more	GBenign/Likely benign