"Undiagnosed Diseases Network, NIH"[submitter] AND "COL6A1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584434	NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)	COL6A1	Deletion (inframe_indel)	Bethlem myopathy 1A	GLikely pathogenic
Select item 542998	NM_001848.3(COL6A1):c.930+189C>T	COL6A1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic