"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL6A5"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035192	NM_001278298.2(COL6A5):c.1696C>T (p.Leu566=)	COL6A5	Single nucleotide variant (synonymous variant +1 more)	COL6A5-related disorder	GLikely benign
Select item 2227696	NM_001278298.2(COL6A5):c.3031G>A (p.Asp1011Asn)	COL6A5 (D1011N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3044719	NM_001278298.2(COL6A5):c.3550C>T (p.Gln1184Ter)	COL6A5 (Q1184*)	Single nucleotide variant (nonsense +1 more)	COL6A5-related disorder	GLikely benign
Select item 3053759	NM_001278298.2(COL6A5):c.4134+10T>G	COL6A5	Single nucleotide variant (intron variant)	COL6A5-related disorder	GLikely benign
Select item 3049828	NM_001278298.2(COL6A5):c.4699-9G>C	COL6A5	Single nucleotide variant (intron variant)	COL6A5-related disorder	GLikely benign
Select item 3055907	NM_001278298.2(COL6A5):c.4825-4dup	COL6A5	Duplication (intron variant)	COL6A5-related disorder	GLikely benign
Select item 2654132	NM_001278298.2(COL6A5):c.4951-1G>T	COL6A5	Single nucleotide variant (splice acceptor variant)	COL6A5-related disorder +1 more	GBenign
Select item 3035361	NM_001278298.2(COL6A5):c.6487C>T (p.Arg2163Trp)	COL6A5 (R2163W)	Single nucleotide variant (missense variant +1 more)	COL6A5-related disorder	GLikely benign
Select item 912021	NM_001278298.2(COL6A5):c.6814G>T (p.Glu2272Ter)	COL6A5 (E2272*)	Single nucleotide variant (nonsense +1 more)	COL6A5-related disorder +1 more	GBenign/Likely benign