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Links from MedGen

Items: 1 to 100 of 201

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK4
Deletion
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GBenign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Inversion
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Deletion
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Deletion
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(M388V)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(E198Q)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(G53D)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(R291*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to STK4 deficiency
GPathogenic
STK4
(T329M)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(H162N)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
+1 more
GConflicting classifications of pathogenicity
STK4
(R463W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Duplication
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
GDAP1L1, GTSF1L
+60 more
Deletion
Combined immunodeficiency due to STK4 deficiency
GPathogenic
STK4
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(A479S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
STK4
(D316Y)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(P10L)
Single nucleotide variant
(missense variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(V101I)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(K87R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(intron variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(K119T)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Microsatellite
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GBenign
STK4
(P188L)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(N319D)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(R310P)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(splice acceptor variant)
Combined immunodeficiency due to STK4 deficiency
GLikely pathogenic
STK4
(T175I)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(splice acceptor variant)
Combined immunodeficiency due to STK4 deficiency
GLikely pathogenic
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(Q429R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(D316N)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(V101A)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(E434K)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
+1 more
GUncertain significance
STK4
(M368I)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(A476V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(F142L)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(I207V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
+1 more
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Microsatellite
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(N253S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
STK4
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to STK4 deficiency
GLikely benign
STK4
(E324D)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(D358G)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(K221R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(K221N)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(R291Q)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(T133A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
STK4
(Q13P)
Single nucleotide variant
(missense variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
STK4
(G417D)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
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