"3billion"[submitter] AND "COL12A1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506379	NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)	COL12A1 (R2021* +1 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 2 +1 more	GPathogenic
Select item 2572588	NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)	COL12A1 (L751*)	Single nucleotide variant (nonsense +1 more)	Ullrich congenital muscular dystrophy 2	GPathogenic