"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227354	NM_000117.3(EMD):c.57C>T (p.Tyr19=)	EMD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 179103	NM_000117.3(EMD):c.70G>A (p.Gly24Arg)	EMD (G24R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 179659	NM_000117.3(EMD):c.77T>C (p.Val26Ala)	EMD (V26A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 42279	NM_000117.3(EMD):c.83-13C>G	EMD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 179496	NM_000117.3(EMD):c.83-2A>G	EMD	Single nucleotide variant (splice acceptor variant)	Neuromuscular disease	GLikely pathogenic
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 163403	NM_000117.3(EMD):c.266-2A>G	EMD	Single nucleotide variant (splice acceptor variant)	Neuromuscular disease +2 more	GPathogenic
Select item 42272	NM_000117.3(EMD):c.272A>G (p.Asn91Ser)	EMD (N91S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 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 42274	NM_000117.3(EMD):c.465C>T (p.Tyr155=)	EMD	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +3 more	GBenign
Select item 42275	NM_000117.3(EMD):c.494C>T (p.Thr165Met)	EMD (T165M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 42277	NM_000117.3(EMD):c.571A>G (p.Met191Val)	EMD (M191V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 163404	NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	EMD (W200R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 179133	NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	EMD (Q219fs)	Microsatellite (frameshift variant)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
Select item 42278	NM_000117.3(EMD):c.646G>A (p.Gly216Arg)	EMD (G216R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228667	NM_000117.3(EMD):c.711C>G (p.Ile237Met)	EMD (I237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163405	NM_000117.3(EMD):c.711C>T (p.Ile237=)	EMD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign