"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "COL6A3"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671676	NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)	COL6A3 (P2410fs +2 more)	Duplication (frameshift variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 476560	NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)	COL6A3 (R2734Q +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 571080	NM_004369.4(COL6A3):c.6310-2A>G	COL6A3, LOC122889011	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 283280	NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)	COL6A3 (A1864T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2242478	NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)	COL6A3 (P1021S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 286160	NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)	COL6A3 (D1374V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2585213	NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)	COL6A3 (I40M)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance

ClinVar