"Genome-Nilou Lab"[submitter] AND "SP110"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334902	NM_080424.4(SP110):c.1568T>C (p.Met523Thr)	SP110 (M523T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 5539	NM_080424.4(SP110):c.1274T>C (p.Leu425Ser)	SP110 (L425S +2 more)	Single nucleotide variant (no sequence alteration +1 more)	not specified +2 more	GBenign
Select item 334909	NM_080424.4(SP110):c.895G>A (p.Gly299Arg)	SP110, SP140 (G299R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more	GBenign
Select item 1333151	NM_080424.4(SP110):c.668-21A>C	SP110, SP140	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 334911	NM_080424.4(SP110):c.617C>T (p.Ala206Val)	SP110, SP140 (A206V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 334912	NM_080424.4(SP110):c.584-9C>T	SP110, SP140	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 403465	NM_080424.4(SP110):c.334T>C (p.Trp112Arg)	SP140, SP110 (W118R +1 more)	Single nucleotide variant (no sequence alteration +1 more)	not specified +2 more	GBenign

ClinVar