"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "COL - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 543025	NM_001848.3(COL6A1):c.1002+6_1002+88del	COL6A1	Deletion (splice donor variant)	Bethlem myopathy 1A	GLikely benign
Select item 840759	NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)	COL6A1 (R574Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 653775	NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser)	COL6A1 (T988S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign

Format

Sort by

Choose Destination