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Items: 1 to 100 of 605

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
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
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
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
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
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
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
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
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
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
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
GPathogenic
ADA
(K340fs +2 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
GPathogenic
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
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
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
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
(D123A)
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
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
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
Deletion
(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
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
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
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
(L274R +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
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
LOC107303343, ADA
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
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
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
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
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
(R23K)
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
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
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
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
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
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
Duplication
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
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
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
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
(Q173fs +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
GPathogenic
ADA
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
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
Insertion
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
(5 prime UTR 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
(T9I)
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
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
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
GPathogenic
ADA
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
Single nucleotide variant
(synonymous variant +1 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
Duplication
(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
(synonymous variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
(M329K +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
ADA
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
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
Indel
(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)
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
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
(K35* +1 more)
Duplication
(non-coding transcript variant +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
(intron variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
Single nucleotide variant
(synonymous 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
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
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
ADA
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
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
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
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