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Items: 1 to 100 of 642

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
ACOT8, ADA
+72 more
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
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
(K111E)
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
(S150fs)
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
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
(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
(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
(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, 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
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
(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, 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, 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 +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
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
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
(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
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
(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
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