ClinVar for MedGen (Select 398225) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996695	NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	LOC126805688, YARS1 (F269S)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +5 more	GPathogenic/Likely pathogenic
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Insulin resistance +15 more	GPathogenic
Select item 370045	NC_012920.1:m.3275C>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 341932	NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)	PNPLA3 (I148M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity; risk factor
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	Ptosis +12 more	GConflicting classifications of pathogenicity

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