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Items: 1 to 100 of 208

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
ABI2, CARF
+47 more
Copy number loss
See cases
GPathogenic
ICOS
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(L5F)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(W6*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(F8L)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(R14C)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
+1 more
GBenign
ICOS
(R14H)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GConflicting classifications of pathogenicity
ICOS
(I15V)
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
Single nucleotide variant
(splice donor variant)
Inherited Immunodeficiency Diseases
+1 more
GLikely pathogenic
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GConflicting classifications of pathogenicity
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)
not provided
GBenign
ICOS
Deletion
(splice acceptor variant +1 more)
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
(intron variant)
not provided
+1 more
GUncertain significance
ICOS
(E21*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(G24V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ICOS
(A26D)
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
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
+1 more
GConflicting classifications of pathogenicity
ICOS
(G36R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ICOS
(K43R)
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
(D46fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GLikely pathogenic
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
+1 more
GBenign
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
(I61fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(L62F)
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
(C63*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
+1 more
GConflicting classifications of pathogenicity
ICOS
(D64N)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(V75M)
Single nucleotide variant
(missense variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
ICOS
(I77V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ICOS
(S79R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(S91G)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(Y97*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(L99fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(Y106*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(I113V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICOS
(F119fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 1
GPathogenic
ICOS
(F119S)
Single nucleotide variant
(missense variant)
Inherited Immunodeficiency Diseases
+1 more
GConflicting classifications of pathogenicity
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GConflicting classifications of pathogenicity
ICOS
(G126R)
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
(splice donor variant)
Immunodeficiency, common variable, 1
GLikely pathogenic
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
(intron variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
Single nucleotide variant
(intron variant)
not provided
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
Deletion
(intron 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
(Q134P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(C136R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(L139R)
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
(V151I)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(V151L)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
+1 more
GConflicting classifications of pathogenicity
ICOS
(L156V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GLikely benign
ICOS
(I159M)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(K166E)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 1
GUncertain significance
ICOS
(K167M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
+2 more
GUncertain significance
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
+2 more
GBenign
ICOS
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 1
GBenign
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