"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687748	NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)	COL6A1 (K114Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1711102	NM_001848.3(COL6A1):c.991_999del (p.328DGV[1])	COL6A1	Deletion (inframe_deletion)	Proximal muscle weakness	GLikely pathogenic
Select item 2578454	NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)	COL6A1 (G371R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely pathogenic

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