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Links from OMIM

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT1
(G384D +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GPathogenic
STAT1
(K278E +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GPathogenic
TRAF3IP2, TRAF3IP2-AS1
(T536I +2 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GPathogenic
IL21R
(R201L +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GPathogenic
IFNAR2-IL10RB, IL10RB
(E141*)
Single nucleotide variant
(nonsense)
Inflammatory bowel disease 25
GPathogenic
STAT1
(M202I +3 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GPathogenic
STAT1
(D165H +4 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GPathogenic
STAT1
(Y170N +4 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GPathogenic
STAT1
(T288A +4 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 31B
+2 more
GPathogenic
STAT1
(D165G +4 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GPathogenic
STAT1
(C174R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inherited Immunodeficiency Diseases
GLikely pathogenic
STAT1
(M202V +3 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 31B
+2 more
GPathogenic
STAT1
(K286I +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GPathogenic
STAT1
(R274Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+5 more
GPathogenic
STAT1
(A267V +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+4 more
GPathogenic
STAT1
(R274W +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+4 more
GPathogenic
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