CN029274[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027374	NM_004369.4(COL6A3):c.6210+5G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	Gnot provided
Select item 94956	NM_004369.4(COL6A3):c.6210+1G>A	COL6A3	Single nucleotide variant (splice donor variant)	Bethlem myopathy 1A +2 more	GPathogenic
Select item 542998	NM_001848.3(COL6A1):c.930+189C>T	COL6A1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 17174	NM_001848.3(COL6A1):c.1056+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	Abnormality of the musculature +3 more	GPathogenic/Likely pathogenic
Select item 542973	NM_001848.3(COL6A1):c.1056+5G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GPathogenic
Select item 565700	NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	COL6A2 (R468*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 17165	NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	COL6A2 (Q819*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

ClinVar