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Links from MedGen

Items: 1 to 100 of 169

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTLA4, ICOS
Deletion
Immunodeficiency, common variable, 1
GPathogenic
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(Y97*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(L99fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(D46fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GLikely pathogenic
ICOS
(I159M)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ABI2, ALS2
+25 more
Duplication
Immunodeficiency, common variable, 1
+1 more
GUncertain significance
ICOS
(D64N)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(R193K)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(F8L)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(F119fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(W6*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(I15V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(L139R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(V151I)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Deletion
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
CTLA4
Indel
(inframe_deletion)
Immunodeficiency, common variable, 1
GLikely pathogenic
ICOS
(D175H)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Duplication
(intron variant)
Immunodeficiency, common variable, 1
GBenign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(C136R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Deletion
(inframe_deletion)
Immunodeficiency, common variable, 1
GUncertain significance
CARF, NOP58
+25 more
Deletion
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
+2 more
GPathogenic
ICOS
(Y106*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(M183V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(S79R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
+1 more
GUncertain significance
ICOS
Deletion
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(R14H)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(S170L)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(E29K)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(K166E)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(S172G)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(E21*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(T195I)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
+2 more
GBenign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
+1 more
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Insertion
(intron variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(G126R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(L194I)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(K43N)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(L156V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(I15M)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(S91G)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(K43R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
NFKB2
(R616W +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 10
GUncertain significance
ICOS
(G24V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
+1 more
GUncertain significance
ICOS
(L5F)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(I61fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(S171Y)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GConflicting classifications of pathogenicity
ICOS
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
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