ClinVar for MedGen (Select 341508) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288385	NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)	COL6A3 (A2787T +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +8 more	GConflicting classifications of pathogenicity
Select item 267925	46;XX;t(1;2)(q42.3;q24.2)dn		Translocation	Decreased body weight +13 more	GUncertain significance