C0410179[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288944	NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)	COL6A3 (E2746K +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +4 more	GConflicting classifications of pathogenicity
Select item 283280	NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)	COL6A3 (A1864T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 195952	NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)	COL6A1 (I562V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 285997	NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	COL6A1 (P716L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285718	NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)	COL6A2 (V929M)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 17164	NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	COL6A2 (P932L)	Single nucleotide variant (missense variant)	Myosclerosis +5 more	GConflicting classifications of pathogenicity
Select item 476480	NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)	COL6A2 (L976S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity

ClinVar