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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAN2B1
(L809P +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GPathogenic/Likely pathogenic
MAN2B1
(R750W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
MAN2B1
Single nucleotide variant
(splice donor variant)
Deficiency of alpha-mannosidase
GPathogenic
MAN2B1
Single nucleotide variant
(splice acceptor variant)
Deficiency of alpha-mannosidase
GPathogenic
MAN2B1
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic
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