"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126806 - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94900	NM_004369.4(COL6A3):c.*7G>C	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 282891	NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)	COL6A3, LOC126806573 (M3175T +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 287183	NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 285453	NM_004369.4(COL6A3):c.9494-10C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 95022	NM_004369.4(COL6A3):c.9494-26C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3053937	NM_004369.4(COL6A3):c.9493+8A>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	COL6A3-related disorder	GLikely benign
Select item 95021	NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GBenign/Likely benign
Select item 283257	NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)	COL6A3, LOC126806573 (T3120P +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity