"Molecular Diagnostics Lab, Nemours Children's Health, Delaware"[submi - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433168	NM_000117.3(EMD):c.46_82+6del	EMD	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 280697	NM_000117.3(EMD):c.60del (p.Asn20fs)	EMD (N20fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 433166	NM_000117.3(EMD):c.82+1G>T	EMD	Single nucleotide variant (splice donor variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 433167	NM_000117.3(EMD):c.121_155del (p.Tyr41fs)	EMD (Y41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 11176	NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	EMD (Q44*)	Single nucleotide variant (nonsense)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GPathogenic
Select item 201772	NM_000117.3(EMD):c.187+1G>T	EMD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 289486	NM_000117.3(EMD):c.251_255del (p.Leu84fs)	EMD (L84fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 393234	NM_000117.3(EMD):c.419T>A (p.Leu140Ter)	EMD (L140*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 290259	NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	EMD (S171*)	Single nucleotide variant (nonsense)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GPathogenic
Select item 433174	NM_000117.3(EMD):c.600G>A (p.Trp200Ter)	EMD (W200*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 433171	NM_000117.3(EMD):c.621del (p.Pro208fs)	EMD (P208fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 433173	NM_000117.3(EMD):c.640_644dup (p.Gln219fs)	EMD (Q219fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 433169	NM_000117.3(EMD):c.674_678del (p.Leu225fs)	EMD (L225fs)	Deletion (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 433170	NM_000117.3(EMD):c.703_704insA (p.Phe235fs)	EMD (F235fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 433172	NC_000023.10:g.(?_154379237)_(154381523_?)del	EMD	Deletion	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic