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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAN2C1
(R278Q)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation 2
GUncertain significance
MAN2C1
(I290M +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation 2
GUncertain significance
MAN2C1, NEIL1
(R802H +2 more)
Single nucleotide variant
(missense variant +2 more)
Congenital disorder of deglycosylation 2
GUncertain significance
MAN2C1
(A510T +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation 2
+1 more
GConflicting classifications of pathogenicity
LOC112272617, MAN2C1
(E18del)
Deletion
(inframe_deletion)
Congenital disorder of deglycosylation 2
GUncertain significance
MAN2C1, NEIL1
Single nucleotide variant
(3 prime UTR variant +2 more)
Congenital disorder of deglycosylation 2
GUncertain significance
MAN2C1
(G203R)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation 2
GLikely pathogenic
MAN2C1, NEIL1
(H812fs +2 more)
Microsatellite
(frameshift variant +2 more)
Congenital disorder of deglycosylation 2
GLikely pathogenic
MAN2C1, NEIL1
(C871S +2 more)
Single nucleotide variant
(missense variant +2 more)
Congenital disorder of deglycosylation 2
GPathogenic
MAN2C1
(R768Q +2 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation 2
GUncertain significance
MAN2C1
Single nucleotide variant
(intron variant +1 more)
Congenital disorder of deglycosylation 2
GUncertain significance
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