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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NGLY1
Deletion
(nonsense +1 more)
not provided
GLikely pathogenic
NGLY1
(W493* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NGLY1
(R348P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NGLY1
(E269K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+2 more
GConflicting classifications of pathogenicity
NGLY1
Single nucleotide variant
(synonymous variant)
Congenital disorder of deglycosylation
GConflicting classifications of pathogenicity
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(W202R +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(Q166* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NGLY1
(S74* +1 more)
Single nucleotide variant
(nonsense)
Congenital disorder of deglycosylation
GPathogenic
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