ClinVar (all) for Orgtrack (Select 507266) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916552	NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs)	ENO3 (G305fs +2 more)	Duplication (frameshift variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GPathogenic
Select item 804213	NM_000301.5(PLG):c.712G>A (p.Asp238Asn)	PLG (D238N)	Single nucleotide variant (missense variant)	Cystic fibrosis	Grisk factor
Select item 17969	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SERPINA1 (E288V)	Single nucleotide variant (missense variant)	SERPINA1-related disorder +4 more	GPathogenic/Pathogenic, low penetrance; other
Select item 16604	NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His)	EPHX1 (Y113H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 14352	NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)	MBL2	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other

ClinVar