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Items: 1 to 100 of 314

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Deletion
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(R364G)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(E21K)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(Y161fs)
Deletion
(frameshift variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GPathogenic
XIAP
(T356A)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(F228S)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(E164D)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(R124fs)
Deletion
(frameshift variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GPathogenic
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(H220Q)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(V42I)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(L47P)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(V70G)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(S241F)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(I149V)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(H220R)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(N35S)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(E164G)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(P312S)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(R222fs)
Insertion
(frameshift variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GPathogenic
XIAP
(R84T)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(D420G)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(R62Q)
Single nucleotide variant
(missense variant)
XIAP-related condition
+1 more
GUncertain significance
XIAP
Duplication
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(K322R)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
(R215C)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(C453Y)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(S45L)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
(E476D)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(R49*)
Single nucleotide variant
(nonsense)
X-linked lymphoproliferative disease due to XIAP deficiency
GPathogenic
XIAP
(D367N)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(I269M)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Duplication
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(E337*)
Single nucleotide variant
(non-coding transcript variant +1 more)
XIAP-related condition
+1 more
GPathogenic
XIAP
(M422V)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(L348F)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(L331fs)
Deletion
(frameshift variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GPathogenic
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(C327S)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(I339V)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(P155L)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(R248S)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(A477T)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(splice acceptor variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(M160V)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(V461I)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(H178Y)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Deletion
(splice acceptor variant +2 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely pathogenic
XIAP
Microsatellite
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
(G95S)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(I366V)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
+1 more
GBenign/Likely benign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
(I149T)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(E99G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Deletion
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GBenign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Microsatellite
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely benign
XIAP
(R268W)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(A412S)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GUncertain significance
XIAP
(Q440*)
Indel
(nonsense +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GLikely pathogenic
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