"EMD-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1215766	NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1]	EMD	Microsatellite (5 prime UTR variant)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GLikely benign
Select item 3057492	NM_000117.3(EMD):c.-117G>A	EMD	Single nucleotide variant (5 prime UTR variant)	EMD-related disorder	GLikely benign
Select item 290626	NM_000117.3(EMD):c.12C>T (p.Tyr4=)	EMD	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 42271	NM_000117.3(EMD):c.144C>T (p.Leu48=)	EMD	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 289486	NM_000117.3(EMD):c.251_255del (p.Leu84fs)	EMD (L84fs)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +3 more	GPathogenic
Select item 42273	NM_000117.3(EMD):c.396C>T (p.His132=)	EMD	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 42276	NM_000117.3(EMD):c.495G>A (p.Thr165=)	EMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign

ClinVar