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Items: 1 to 100 of 1600

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAN2B1, ZNF564
Deletion
(intron variant)
Deficiency of alpha-mannosidase
GPathogenic
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Microsatellite
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Deletion
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(G87R)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC129391064, MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC130063650, MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC130063648, MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Deletion
(intron variant)
Deficiency of alpha-mannosidase
GBenign
LOC130063648, MAN2B1
(M912I +1 more)
Single nucleotide variant
(missense variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC129391064, MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC130063648, MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC130063650, MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC129391064, MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Duplication
(intron variant)
Deficiency of alpha-mannosidase
GBenign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GUncertain significance
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(splice acceptor variant)
Deficiency of alpha-mannosidase
GLikely pathogenic
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
LOC129391064, MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(synonymous variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
Single nucleotide variant
(intron variant)
Deficiency of alpha-mannosidase
GLikely benign
MAN2B1
(W387* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of alpha-mannosidase
GPathogenic
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