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Links from MedGen

Items: 1 to 100 of 651

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MANBA
(Y217*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
LOC129992886, MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(Q261*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
LOC129992886, MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(splice acceptor variant)
Beta-D-mannosidosis
GLikely pathogenic
MANBA
(Q262*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(Q250*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(Y527*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(H723Y)
Single nucleotide variant
(missense variant)
Beta-D-mannosidosis
GUncertain significance
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
LOC129992886, MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(splice acceptor variant)
Beta-D-mannosidosis
GLikely pathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(S107*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
LOC129992886, MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(W412*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(splice donor variant)
Beta-D-mannosidosis
GLikely pathogenic
LOC129992886, MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(Y438fs)
Deletion
(frameshift variant)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Duplication
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(R550*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(splice acceptor variant)
Beta-D-mannosidosis
GLikely pathogenic
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(N578fs)
Deletion
(frameshift variant)
Beta-D-mannosidosis
GPathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
LOC129992886, MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(splice acceptor variant)
Beta-D-mannosidosis
GLikely pathogenic
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(L691fs)
Deletion
(frameshift variant)
Beta-D-mannosidosis
GPathogenic
LOC129992886, MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
GLikely benign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
LOC129992886, MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
GLikely benign
MANBA
(R721*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic
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