"Genome-Nilou Lab"[submitter] AND "COL6A2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93963	NM_001849.4(COL6A2):c.928-19C>T	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +4 more	GBenign
Select item 93900	NM_001849.4(COL6A2):c.1116+32G>A	COL6A2	Single nucleotide variant (intron variant)	Myosclerosis +4 more	GBenign
Select item 93903	NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)	COL6A2 (S399N)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +5 more	GBenign
Select item 93905	NM_001849.4(COL6A2):c.1332+26A>G	COL6A2	Single nucleotide variant (intron variant)	Myosclerosis +4 more	GBenign
Select item 93914	NM_001849.4(COL6A2):c.1671+10A>G	COL6A2	Single nucleotide variant (intron variant)	Myosclerosis +5 more	GBenign
Select item 93916	NM_001849.4(COL6A2):c.1672-24C>G	COL6A2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 93922	NM_001849.4(COL6A2):c.1771-25A>G	COL6A2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 93929	NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)	COL6A2 (R680H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GBenign
Select item 93930	NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)	COL6A2	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 1A +5 more	GBenign
Select item 93931	NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +5 more	GBenign
Select item 93936	NM_001849.4(COL6A2):c.2184G>A (p.Val728=)	COL6A2	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 1A +5 more	GBenign
Select item 93940	NM_001849.4(COL6A2):c.2462-35C>T	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +4 more	GBenign