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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMM2
(L32R)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
(P113L)
Single nucleotide variant
(missense variant)
PMM2-related condition
+2 more
GPathogenic
PMM2
(F119L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
PMM2
(I132T)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
(E139K)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
+1 more
GPathogenic/Likely pathogenic
PMM2
(R141H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PMM2
(D188G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PMM2
(H218L)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
Gnot provided
PMM2
(T226S)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
PMM2
(V231M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PMM2
(T237M)
Single nucleotide variant
(missense variant)
PMM2-related condition
+4 more
GPathogenic/Likely pathogenic
PMM2
(C241S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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