"Solve-RD Consortium"[submitter] AND "COL6A1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93894	NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	COL6A1	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 542991	NM_001848.3(COL6A1):c.958-2A>G	COL6A1	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GPathogenic
Select item 502579	NM_001848.3(COL6A1):c.1741-6G>A	COL6A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

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