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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068460, MAGT1
(R6P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC130068460, MAGT1
(G30R)
Single nucleotide variant
(5 prime UTR variant +1 more)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
+1 more
GUncertain significance
LOC130068460, MAGT1
(G28E)
Single nucleotide variant
(5 prime UTR variant +1 more)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
+3 more
GConflicting classifications of pathogenicity
LOC130068460, MAGT1
(I26T)
Single nucleotide variant
(5 prime UTR variant +1 more)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
+1 more
GUncertain significance
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