U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMM2
(R21G)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(F119L)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
+2 more
GPathogenic
PMM2
(R123Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PMM2
(R141H)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
+4 more
GPathogenic/Likely pathogenic
PMM2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PMM2
(D188G)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
+1 more
GPathogenic/Likely pathogenic
PMM2
(E197A)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
+2 more
GBenign/Likely benign
PMM2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PMM2
(T237R)
Single nucleotide variant
(missense variant)
See cases
+3 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination