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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG1
Duplication
(inframe_insertion)
ALG1-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG1
(A95V)
Single nucleotide variant
(5 prime UTR variant +1 more)
ALG1-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG1
(R136C +1 more)
Single nucleotide variant
(missense variant)
ALG1-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG1
(R274C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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