CN029274[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1809778	NM_004369.4(COL6A3):c.9494-6G>A	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 2042097	NM_004369.4(COL6A3):c.7029+11G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2578456	NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)	COL6A3 (G1446D +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GPathogenic
Select item 984795	NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys)	COL6A3 (R1436C +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 689566	NM_004369.4(COL6A3):c.985G>A (p.Val329Met)	COL6A3 (V123M +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
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 2578454	NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)	COL6A1 (G371R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely pathogenic

ClinVar