ClinVar for PubMed (Select 2227940) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17986	NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser)	SERPINA1 (G139S)	Single nucleotide variant (missense variant)	PI NULL(NEWPORT) +4 more	GPathogenic; other
Select item 17970	NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)	SERPINA1 (S6L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance