"Clinical Genetics Laboratory, University Hospital Schleswig-Holstein" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710188	NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)	SYNE2 (S4835fs)	Duplication (frameshift variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely pathogenic
Select item 1710169	NM_182914.3(SYNE2):c.15306+2T>G	SYNE2	Single nucleotide variant (splice donor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance