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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYK2
(A677V +6 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
(R679P)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
+1 more
GUncertain significance
TYK2
(G520D)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
(E467K)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
(A361V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TYK2
(R244H +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
TYK2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 35
GConflicting classifications of pathogenicity
TYK2
Single nucleotide variant
(intron variant)
Immunodeficiency 35
GUncertain significance
TYK2
(P42A)
Single nucleotide variant
(missense variant)
Immunodeficiency 35
GUncertain significance
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