"Mendelics"[submitter] AND "SERPINI1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1508024	NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys)	SERPINI1 (E277K)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GUncertain significance
Select item 1686176	NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg)	SERPINI1 (G392R)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GPathogenic