ClinVar for MedGen (Select 1054367) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94956	NM_004369.4(COL6A3):c.6210+1G>A	COL6A3	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 17151	NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)	COL6A3 (R465* +2 more)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A	GPathogenic
Select item 17150	NM_004369.4(COL6A3):c.6930+5G>A	COL6A3	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +1 more	GPathogenic

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