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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NGLY1
(R401* +2 more)
Single nucleotide variant
(nonsense)
Congenital disorder of deglycosylation 1
+2 more
GPathogenic/Likely pathogenic
NGLY1
Single nucleotide variant
(synonymous variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(Q166* +1 more)
Single nucleotide variant
(nonsense)
Congenital disorder of deglycosylation
+1 more
GPathogenic
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