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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666973	NM_004130.4(GYG1):c.7+1G>A	GYG1, LOC129937737	Single nucleotide variant (splice donor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 162663	NM_004130.4(GYG1):c.304G>C (p.Asp102His)	GYG1 (D102H)	Single nucleotide variant (missense variant)	GYG1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 162665	NM_004130.4(GYG1):c.487del (p.Asp163fs)	GYG1 (D163fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic

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