"MGZ Medical Genetics Center"[submitter] AND "COL6A2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 858544	NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)	COL6A2 (D135N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GConflicting classifications of pathogenicity
Select item 1709249	NM_001849.4(COL6A2):c.855+38_856-32del	COL6A2	Deletion (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1709156	NM_001849.4(COL6A2):c.2116G>A (p.Ala706Thr)	COL6A2 (A706T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1709781	NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)	COL6A2 (V752fs)	Deletion (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 1709935	NM_001849.4(COL6A2):c.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)	COL6A2	Duplication (inframe_insertion)	Bethlem myopathy 1A	GUncertain significance
Select item 1709436	NM_001849.4(COL6A2):c.2497dup (p.Asp833fs)	COL6A2 (D833fs)	Duplication (frameshift variant)	Bethlem myopathy 1A	GUncertain significance

ClinVar