U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058478, SOCS1
(G187D)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome with immunodeficiency
GUncertain significance
SOCS1
(R94L)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome with immunodeficiency
GUncertain significance
SOCS1
(M161fs)
Insertion
(frameshift variant)
Autoinflammatory syndrome with immunodeficiency
GPathogenic
SOCS1
(Y64*)
Single nucleotide variant
(nonsense)
Autoinflammatory syndrome with immunodeficiency
GLikely pathogenic
LOC130058479, SOCS1
(A9fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC130058479, SOCS1
(A37fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination