C0751337[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285164	NM_000117.3(EMD):c.149C>A (p.Pro50His)	EMD (P50H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 227353	NM_000117.3(EMD):c.400-9C>T	EMD	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 237013	NM_000117.3(EMD):c.428C>T (p.Ser143Phe)	EMD (S143F)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 198043	NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	EMD (R152C)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +3 more	GConflicting classifications of pathogenicity
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
Select item 1174708	NM_000117.3(EMD):c.603C>T (p.Leu201=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 201777	NM_000117.3(EMD):c.671C>T (p.Pro224Leu)	EMD (P224L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +2 more	GConflicting classifications of pathogenicity

ClinVar