ClinVar for MedGen (Select 1054131) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256542	NM_001849.4(COL6A2):c.954+1G>A	COL6A2	Single nucleotide variant (splice donor variant)	Bethlem myopathy 1B	GPathogenic
Select item 2765800	NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)	COL6A2 (Q664*)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A +1 more	GPathogenic
Select item 166930	NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)	COL6A2 (G388R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 17164	NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	COL6A2 (P932L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GConflicting classifications of pathogenicity
Select item 17163	NM_001849.4(COL6A2):c.1000-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GPathogenic
Select item 17159	NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)	COL6A2 (D621N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 17155	NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)	COL6A2 (G271S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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