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Links from MedGen

Items: 1 to 100 of 286

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRAK4
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 67
GLikely benign
IRAK4
(T163I +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(M141I +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(R347* +2 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 67
GPathogenic
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(V86fs +1 more)
Microsatellite
(frameshift variant +1 more)
Immunodeficiency 67
GPathogenic
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(F94fs)
Duplication
(frameshift variant +2 more)
Immunodeficiency 67
GPathogenic
IRAK4
(Q61*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Immunodeficiency 67
GPathogenic
IRAK4
(E57K)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 67
GUncertain significance
IRAK4
(Q50L)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 67
GUncertain significance
IRAK4
(H104del +2 more)
Microsatellite
(inframe_deletion +1 more)
Immunodeficiency 67
GUncertain significance
IRAK4
Deletion
Immunodeficiency 67
GUncertain significance
IRAK4
(I244N +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(K240N +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(S2*)
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 67
GLikely benign
IRAK4
(D51Y +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
(I26V)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 67
GUncertain significance
IRAK4
(E199* +2 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 67
GPathogenic
IRAK4
(G383fs +2 more)
Deletion
(frameshift variant)
Immunodeficiency 67
GPathogenic
IRAK4
(T77del)
Microsatellite
(inframe_deletion +2 more)
Immunodeficiency 67
GUncertain significance
IRAK4
(V122E +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(E247Q +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
(T223A +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(I317M +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 67
GLikely benign
IRAK4
(T111A)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 67
GUncertain significance
IRAK4
(P266L +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(E439D +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
Inversion
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(M15fs +2 more)
Deletion
(frameshift variant)
Immunodeficiency 67
GPathogenic
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
(I196V +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(K319E +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(N15S)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
(K115E)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(synonymous variant +2 more)
Immunodeficiency 67
GLikely benign
IRAK4
(D149E +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 67
+1 more
GUncertain significance
IRAK4
(N78D)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(I114V +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(P106S)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
(L112fs)
Deletion
(frameshift variant +1 more)
Immunodeficiency 67
GPathogenic/Likely pathogenic
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Deletion
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant +2 more)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant +2 more)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GBenign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GBenign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant +2 more)
Immunodeficiency 67
GLikely benign
IRAK4
(L13S)
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GLikely benign
IRAK4
Single nucleotide variant
(intron variant)
Immunodeficiency 67
GLikely benign
IRAK4
Duplication
(intron variant)
Immunodeficiency 67
GBenign
IRAK4
(N297D +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(T136A +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 67
GUncertain significance
IRAK4
(R131W +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(Q143K +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 67
GUncertain significance
IRAK4
Single nucleotide variant
(synonymous variant)
Immunodeficiency 67
GUncertain significance
IRAK4
(I89T)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 67
GUncertain significance
IRAK4
(D154N +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 67
GUncertain significance
IRAK4
Deletion
Immunodeficiency 67
GPathogenic
IRAK4
(Y227* +2 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 67
GPathogenic
IRAK4
(E255* +2 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 67
GPathogenic
IRAK4
Deletion
Immunodeficiency 67
GUncertain significance
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