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Links from Gene

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG3
(L175del +2 more)
Microsatellite
(inframe_deletion +2 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3, LOC129938049
Single nucleotide variant
(synonymous variant)
ALG3-related condition
GLikely benign
ALG3, LOC129938049
(G16W)
Single nucleotide variant
(missense variant)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(T19P +1 more)
Single nucleotide variant
(missense variant +1 more)
Seizure
+2 more
GUncertain significance
ALG3
Single nucleotide variant
(splice donor variant)
ALG3-congenital disorder of glycosylation
GLikely pathogenic
ALG3, LOC129938049
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALG3
Deletion
(splice donor variant +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
(W421* +1 more)
Single nucleotide variant
(nonsense +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
(S202R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALG3
(T398I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALG3
(L5P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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