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Links from MedGen

Items: 1 to 100 of 808

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYK2
Single nucleotide variant
(splice donor variant)
Immunodeficiency 35
GLikely pathogenic
TYK2
(V823L)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 35
GLikely pathogenic
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
+1 more
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(P216L)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(splice donor variant)
Immunodeficiency 35
GLikely pathogenic
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
(R579* +4 more)
Single nucleotide variant
(nonsense +1 more)
Immunodeficiency 35
GPathogenic
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
(R567C +5 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(Q155*)
Single nucleotide variant
(nonsense)
Immunodeficiency 35
GPathogenic
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Duplication
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(M141T)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
(R197G)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GUncertain significance
TYK2
Deletion
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
(L1056P +9 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
(Q142*)
Single nucleotide variant
(nonsense)
Immunodeficiency 35
GPathogenic
TYK2
(L1044fs +9 more)
Deletion
(frameshift variant)
Immunodeficiency 35
GPathogenic
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Microsatellite
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(E636fs +5 more)
Duplication
(frameshift variant +1 more)
Immunodeficiency 35
GPathogenic
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
(Q800* +8 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 35
GPathogenic
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(splice donor variant)
Immunodeficiency 35
GLikely pathogenic
TYK2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 35
GLikely benign
TYK2
(L1045F +10 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GConflicting classifications of pathogenicity
TYK2
(A677V +6 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(P791S +8 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(F219L)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(D822E +9 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
TYK2-related condition
+1 more
GLikely benign
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(Q750H +6 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GLikely benign
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GLikely benign
TYK2
(G780D +6 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
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