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Links from MedGen

Items: 1 to 100 of 286

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBH1, IL15RA
+1 more
Duplication
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(E100G)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(P28L)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(A38V)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(D25N)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Microsatellite
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely pathogenic
LOC128462384, LOC130003232
+1 more
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA, LOC130003232
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(M65I)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(S60I)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(E129K +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(T146R +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(R88P)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(E125K +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(T68I)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(V144G)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(P130Q)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(G61R)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(G186S)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(W76*)
Single nucleotide variant
(nonsense)
Immunodeficiency due to CD25 deficiency
GPathogenic
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(I200N +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(L63P)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(A119V)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(Y64H)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA, LOC128462384
(M1L)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(F193L)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(stop lost)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely pathogenic
IL2RA, LOC128462384
(Y4H)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(S140F +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Inversion
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GBenign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
+1 more
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Indel
(intron variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to CD25 deficiency
GLikely benign
IL2RA
(S120N)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(T185I)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(intron variant +1 more)
Immunodeficiency due to CD25 deficiency
GLikely pathogenic
IL2RA
Single nucleotide variant
(intron variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(E124G +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(R176W)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA, LOC128462384
(M7I)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(H160R)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(R197K +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(Q101E)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(M46T)
Single nucleotide variant
(missense variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(E132K +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
Single nucleotide variant
(splice donor variant)
Immunodeficiency due to CD25 deficiency
GUncertain significance
IL2RA
(V215I +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency due to CD25 deficiency
GUncertain significance
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