U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT3
(V413M +4 more)
Single nucleotide variant
(missense variant +1 more)
STAT3-related early-onset multisystem autoimmune disease
GUncertain significance
STAT3
(H415D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STAT3
(R303Q +2 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+1 more
GUncertain significance
STAT3
Single nucleotide variant
(splice acceptor variant)
STAT3-related early-onset multisystem autoimmune disease
GUncertain significance
STAT3
Single nucleotide variant
(splice acceptor variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
STAT3
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
STAT3
(A345T +4 more)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GUncertain significance
STAT3
(K658N)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GLikely pathogenic
STAT3
(H437L)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GLikely pathogenic
STAT3
(K658R)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GLikely pathogenic
STAT3
Single nucleotide variant
(intron variant)
STAT3 gain of function
+2 more
GConflicting classifications of pathogenicity
STAT3
(M329R)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
+3 more
GConflicting classifications of pathogenicity
STAT3
Single nucleotide variant
(synonymous variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
STAT3
(Q125E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
STAT3
(G743V +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
STAT3
(P715L +9 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
STAT3
(A703T +9 more)
Single nucleotide variant
(missense variant +1 more)
STAT3-related early-onset multisystem autoimmune disease
GPathogenic
STAT3
(N420K +4 more)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GPathogenic
STAT3
(T716M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
STAT3
(V353F +2 more)
Single nucleotide variant
(missense variant +1 more)
STAT3-related early-onset multisystem autoimmune disease
GPathogenic
STAT3
(R152W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+2 more
GPathogenic
STAT3
(T663I +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
STAT3
(G421R +4 more)
Single nucleotide variant
(missense variant)
STAT3-related disorder
+4 more
GPathogenic/Likely pathogenic
STAT3
(Q344H +2 more)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GPathogenic
STAT3
Duplication
STAT3 gain of function
+5 more
GBenign
STAT3
(K658N +7 more)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GPathogenic
STAT3
(N646K +7 more)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GPathogenic
STAT3
(K392R +4 more)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GPathogenic
STAT3
(E415K +4 more)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
+1 more
GPathogenic/Likely pathogenic
STAT3
(R423Q +4 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+2 more
GPathogenic
STAT3
(R382W +4 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+3 more
GPathogenic
Format
Items per page
Sort by
Choose Destination