"Revvity Omics, Revvity"[submitter] AND "SERPINI1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534956	NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile)	SERPINI1 (N83I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GConflicting classifications of pathogenicity
Select item 2435818	NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)	SERPINI1 (V288A)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance