"OMIM"[submitter] AND "SOCS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172797	NM_003745.2(SOCS1):c.480_481insGCGGC (p.Met161fs)	SOCS1 (M161fs)	Insertion (frameshift variant)	Autoinflammatory syndrome with immunodeficiency	GPathogenic
Select item 977216	NM_003745.2(SOCS1):c.460T>C (p.Tyr154His)	SOCS1 (Y154H)	Single nucleotide variant (missense variant)	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY +1 more	GPathogenic/Likely pathogenic
Select item 977212	NM_003745.2(SOCS1):c.368C>G (p.Pro123Arg)	SOCS1 (P123R)	Single nucleotide variant (missense variant)	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY +1 more	GPathogenic/Likely pathogenic
Select item 1120219	NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter)	SOCS1 (Y64*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome with immunodeficiency	GLikely pathogenic
Select item 432971	NM_003745.2(SOCS1):c.108del (p.Ala37fs)	LOC130058479, SOCS1 (A37fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 977215	NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp)	LOC130058479, SOCS1 (R22W)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus +1 more	GPathogenic/Likely pathogenic
Select item 977213	NM_003745.2(SOCS1):c.24del (p.Ala9fs)	LOC130058479, SOCS1 (A9fs)	Deletion (frameshift variant)	not provided	GPathogenic

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