"Genome-Nilou Lab"[submitter] AND "COL6A1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93873	NM_001848.3(COL6A1):c.428+14A>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +4 more	GBenign
Select item 93876	NM_001848.3(COL6A1):c.429-19G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 93879	NM_001848.3(COL6A1):c.588+13C>A	COL6A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +4 more	GBenign
Select item 93891	NM_001848.3(COL6A1):c.859-19A>G	COL6A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 93897	NM_001848.3(COL6A1):c.903+14C>A	COL6A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 93805	NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +4 more	GBenign
Select item 93811	NM_001848.3(COL6A1):c.1335+27A>C	COL6A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 93813	NM_001848.3(COL6A1):c.1399-32T>C	COL6A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +3 more	GBenign
Select item 93817	NM_001848.3(COL6A1):c.1462-36A>G	COL6A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +3 more	GBenign
Select item 93854	NM_001848.3(COL6A1):c.2434+15A>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +4 more	GBenign
Select item 93861	NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)	COL6A1	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 93864	NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 93870	NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)	COL6A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign