CN029274[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94959	NM_004369.4(COL6A3):c.6282+1G>A	COL6A3	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 1A +2 more	GPathogenic
Select item 282291	NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys)	COL6A3 (R1970C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 93895	NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	COL6A1	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GPathogenic/Likely pathogenic
Select item 1013195	NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu)	COL6A1 (G296E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 285482	NM_001848.3(COL6A1):c.928_930del (p.Lys310del)	COL6A1 (K310del)	Deletion (inframe_deletion)	Bethlem myopathy 1A +2 more	GPathogenic/Likely pathogenic
Select item 1687278	NM_001848.3(COL6A1):c.1659_1667dup (p.Pro555_Asp557dup)	COL6A1	Duplication (inframe_insertion)	Bethlem myopathy 1A	GUncertain significance
Select item 374143	NM_001849.4(COL6A2):c.736-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1A +6 more	GPathogenic/Likely pathogenic
Select item 1351958	NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)	COL6A2 (G292S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GPathogenic
Select item 2444078	NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)	COL6A2 (N461fs)	Duplication (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 1333202	NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del)	COL6A2	Deletion (inframe_deletion)	Bethlem myopathy 1A	GUncertain significance
Select item 2444282	NM_001849.4(COL6A2):c.1817-2A>C	COL6A2	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 265506	NM_001849.4(COL6A2):c.1970-9G>A	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +10 more	GPathogenic/Likely pathogenic
Select item 2444384	NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)	COL6A2 (G886fs)	Duplication (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic