"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SP110"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534651	NM_080424.4(SP110):c.1647C>T (p.Cys549=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GBenign/Likely benign
Select item 334904	NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)	SP110 (G483R +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more	GBenign/Likely benign