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Items: 1 to 100 of 167

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADA
Deletion
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA
Deletion
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA
Deletion
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA
(Q119fs +1 more)
Duplication
(frameshift variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA, LOC107303343
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
(W137* +2 more)
Single nucleotide variant
(nonsense)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA
Single nucleotide variant
(splice donor variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
(S197fs +2 more)
Duplication
(frameshift variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
(K225I +1 more)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(I72V)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Microsatellite
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Microsatellite
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
LOC107303343, ADA
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(H17fs)
Deletion
(frameshift variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
LOC107303343, ADA
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(M1R)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA
(V98fs +1 more)
Deletion
(frameshift variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
Single nucleotide variant
(splice acceptor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
Single nucleotide variant
(intron variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
(T168fs +2 more)
Indel
(frameshift variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
(G136fs)
Deletion
(frameshift variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
(K225fs +1 more)
Deletion
(frameshift variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
(W161* +1 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
Single nucleotide variant
(splice acceptor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA, LOC107303343
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
Single nucleotide variant
(intron variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
Single nucleotide variant
(intron variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA, LOC107303343
(D19V)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
ADA
(Q119K)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
(A73V)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(A6S)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(H17Y)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
(K64E)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
(T26P)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
(F7L)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(G35R)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
(A37T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(A63fs)
Deletion
(frameshift variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA, LOC107303343
(L28*)
Single nucleotide variant
(nonsense +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA, LOC107303343
(N48fs)
Deletion
(frameshift variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA, LOC107303343
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADA
Deletion
(intron variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Duplication
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GBenign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA, LOC107303343
(E13K)
Indel
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Deletion
(splice donor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
LOC107303343, ADA
(I50T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA, LOC107303343
Deletion
(splice acceptor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ADA, LOC107303343
(Y30H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ADA, LOC107303343
(T42R)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
+1 more
GUncertain significance
ADA, LOC107303343
(D60G)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
+1 more
GUncertain significance
ADA, LOC107303343
Single nucleotide variant
(intron variant)
not provided
GBenign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
not provided
GBenign
ADA, LOC107303343
Single nucleotide variant
(intron variant)
not provided
GBenign
ADA, LOC107303343
Microsatellite
(intron variant)
not provided
GBenign
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