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Links from MedGen

Items: 1 to 100 of 449

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITK
(R44fs)
Deletion
(frameshift variant)
Lymphoproliferative syndrome 1
GLikely pathogenic
ITK
(H378R)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
+1 more
GUncertain significance
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Deletion
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Microsatellite
(intron variant)
Lymphoproliferative syndrome 1
GBenign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(A407S)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(splice acceptor variant)
Lymphoproliferative syndrome 1
GLikely pathogenic
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(E617A)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(G350R)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(I590L)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(Q17K)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(A455P)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(W130*)
Single nucleotide variant
(nonsense)
Lymphoproliferative syndrome 1
GPathogenic
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(V282L)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
ITK-related disorder
+1 more
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
CYFIP2, FNDC9
+8 more
Duplication
Lymphoproliferative syndrome 1
GUncertain significance
CYFIP2, FNDC9
+8 more
Deletion
Lymphoproliferative syndrome 1
GPathogenic
ITK
(R29C)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(T348I)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
+1 more
GUncertain significance
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(R602L)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(M438L)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(L483M)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(N114H)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(I290V)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(K248*)
Single nucleotide variant
(nonsense)
Lymphoproliferative syndrome 1
GPathogenic
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(V211I)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(E238A)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(D163H)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(A471V)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(N195H)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(G555fs)
Deletion
(frameshift variant)
Lymphoproliferative syndrome 1
GPathogenic
ITK
(E401*)
Single nucleotide variant
(nonsense)
Lymphoproliferative syndrome 1
GPathogenic
ITK
(Y220C)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(P558L)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(G441S)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
(D127fs)
Deletion
(frameshift variant)
Lymphoproliferative syndrome 1
GPathogenic
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(A616S)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Deletion
(splice acceptor variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(D510V)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
(D147H)
Single nucleotide variant
(missense variant)
Lymphoproliferative syndrome 1
GUncertain significance
ITK
Single nucleotide variant
(synonymous variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
ITK
Single nucleotide variant
(intron variant)
Lymphoproliferative syndrome 1
GLikely benign
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