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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129930668, PGM1
(Q41R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PGM1, LOC129930668
(D62H)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
PGM1
(M67R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PGM1
(E55G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PGM1
(R217* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PGM1
(A368V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PGM1
(R440W +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PGM1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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