U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NGLY1
Copy number loss
Congenital disorder of deglycosylation 1
GPathogenic
NGLY1
(Y333fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation 1
GLikely pathogenic
NGLY1
(C602Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation 1
GUncertain significance
NGLY1
(V397L +2 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation 1
GUncertain significance
NGLY1
(R544* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of deglycosylation
+2 more
GPathogenic
NGLY1
(T122fs +1 more)
Duplication
(frameshift variant)
Congenital disorder of deglycosylation 1
GLikely pathogenic
NGLY1
(R348G +2 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation 1
GUncertain significance
NGLY1
(L6fs)
Duplication
(frameshift variant +2 more)
Congenital disorder of deglycosylation
+2 more
GUncertain significance
NGLY1
(D546fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation 1
+1 more
GPathogenic/Likely pathogenic
NGLY1
Single nucleotide variant
(synonymous variant)
Congenital disorder of deglycosylation 1
+1 more
GLikely benign
NGLY1
(K76N +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
+2 more
GUncertain significance
NGLY1
(N255Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NGLY1
(R286C +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation 1
GLikely pathogenic
NGLY1
(Y300C +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
+2 more
GPathogenic
NGLY1
(R411* +2 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
NGLY1
(N469fs +2 more)
Deletion
(frameshift variant)
Congenital disorder of deglycosylation 1
+2 more
GPathogenic
NGLY1
(S448F +2 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
+1 more
GUncertain significance
NGLY1
Deletion
(inframe_indel)
not provided
+2 more
GConflicting classifications of pathogenicity
NGLY1
(R401* +2 more)
Single nucleotide variant
(nonsense)
Congenital disorder of deglycosylation 1
+2 more
GPathogenic/Likely pathogenic
NGLY1
(Q589fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation 1
+2 more
GPathogenic
Format
Items per page
Sort by
Choose Destination