C0410179[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449325	NM_004369.4(COL6A3):c.6309+3A>G	COL6A3, LOC122889011	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 94959	NM_004369.4(COL6A3):c.6282+1G>A	COL6A3	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 1A +2 more	GPathogenic
Select item 2444174	NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)	COL6A1 (Y78*)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 93895	NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	COL6A1	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GPathogenic/Likely pathogenic
Select item 285482	NM_001848.3(COL6A1):c.928_930del (p.Lys310del)	COL6A1 (K310del)	Deletion (inframe_deletion)	Bethlem myopathy 1A +2 more	GPathogenic/Likely pathogenic
Select item 1333684	NM_001848.3(COL6A1):c.1813+2_1813+3del	COL6A1	Microsatellite (splice donor variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 374143	NM_001849.4(COL6A2):c.736-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1A +6 more	GPathogenic/Likely pathogenic
Select item 265506	NM_001849.4(COL6A2):c.1970-9G>A	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +10 more	GPathogenic/Likely pathogenic

ClinVar