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Links from MedGen

Items: 1 to 100 of 509

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT1
Single nucleotide variant
(synonymous variant)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GLikely benign
STAT1
(D641E +9 more)
Single nucleotide variant
(missense variant +1 more)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GLikely benign
STAT1
(I618V +9 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(K13R +1 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(E431fs +9 more)
Microsatellite
(frameshift variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GPathogenic
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(E532G +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(T275S +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(V448L +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(S399F +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(R72G +2 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(splice donor variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely pathogenic
STAT1
(I32V +1 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(K345R +7 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(Q228L +4 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(F172L +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely pathogenic
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(E467K +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(Y287* +4 more)
Single nucleotide variant
(nonsense +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GPathogenic
STAT1
(R555W +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(W229C +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(N253S +4 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(N656K +9 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(V424F +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(Y68C +2 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(E8K +1 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(E179Q +4 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(S470N +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(E44D +2 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(K539T +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(E510V +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(T418S +9 more)
Indel
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(R533G +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(I99V +2 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(E260K +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(C155R +3 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Duplication
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GBenign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(A119T +2 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(M713V +12 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(A667P +9 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(I126T +3 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(P295T +4 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
STAT1
(R268G +5 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GPathogenic
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(intron variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
Single nucleotide variant
(synonymous variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GLikely benign
STAT1
(N517S +9 more)
Single nucleotide variant
(missense variant)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
+2 more
GUncertain significance
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