ClinVar for MedGen (Select 1784363) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068305	NM_003745.2(SOCS1):c.454G>T (p.Glu152Ter)	SOCS1 (E152*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome with immunodeficiency	GLikely pathogenic
Select item 3064716	NM_003745.2(SOCS1):c.108_137del (p.Arg38_Ala47del)	LOC130058479, SOCS1	Deletion (inframe_deletion)	Autoinflammatory syndrome with immunodeficiency	GUncertain significance
Select item 2627601	NM_003745.2(SOCS1):c.560G>A (p.Gly187Asp)	LOC130058478, SOCS1 (G187D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome with immunodeficiency	GUncertain significance
Select item 2431403	NM_003745.2(SOCS1):c.281G>T (p.Arg94Leu)	SOCS1 (R94L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome with immunodeficiency	GUncertain significance
Select item 1172797	NM_003745.2(SOCS1):c.480_481insGCGGC (p.Met161fs)	SOCS1 (M161fs)	Insertion (frameshift variant)	Autoinflammatory syndrome with immunodeficiency	GPathogenic
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 977213	NM_003745.2(SOCS1):c.24del (p.Ala9fs)	LOC130058479, SOCS1 (A9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 432971	NM_003745.2(SOCS1):c.108del (p.Ala37fs)	LOC130058479, SOCS1 (A37fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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