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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PGM2L1
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
GPathogenic
PGM2L1
(P517fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
GPathogenic
PGM2L1
(N372fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PGM2L1
(Y18fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PGM2L1
(E428*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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