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Links from MedGen

Items: 1 to 100 of 363

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
(Q352*)
Single nucleotide variant
(nonsense +1 more)
Fucosidosis
GPathogenic
FUCA1, LOC126805661
(N154fs)
Deletion
(frameshift variant +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(splice acceptor variant)
Fucosidosis
GLikely pathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GBenign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(L186*)
Single nucleotide variant
(nonsense +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
(T203fs)
Deletion
(frameshift variant +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(splice donor variant)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(splice acceptor variant)
Fucosidosis
GLikely pathogenic
FUCA1, LOC126805661
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1, LOC129929685
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(S8*)
Single nucleotide variant
(nonsense +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC129929685
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(Y97*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(W188*)
Single nucleotide variant
(nonsense +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC129929685
Deletion
(intron variant +1 more)
Fucosidosis
GBenign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(S27*)
Single nucleotide variant
(nonsense +1 more)
Fucosidosis
GPathogenic
FUCA1
Microsatellite
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Microsatellite
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(I227fs)
Microsatellite
(frameshift variant +1 more)
Fucosidosis
GPathogenic
FUCA1, LOC126805661
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(P99fs)
Duplication
(frameshift variant +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1, LOC129929685
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GUncertain significance
FUCA1
Single nucleotide variant
(splice donor variant)
Fucosidosis
GPathogenic
FUCA1, LOC126805661
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
(E119fs)
Deletion
(frameshift variant +1 more)
Fucosidosis
GPathogenic
FUCA1
(W228*)
Microsatellite
(nonsense +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
LOC126805661, FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
(N334Y)
Single nucleotide variant
(missense variant +1 more)
Fucosidosis
GLikely pathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Deletion
(intron variant)
Fucosidosis
GLikely benign
FUCA1, LOC129929685
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Deletion
(intron variant)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(splice donor variant)
Fucosidosis
GLikely pathogenic
FUCA1
(W233*)
Single nucleotide variant
(nonsense +1 more)
Fucosidosis
GPathogenic
FUCA1, LOC126805661
Single nucleotide variant
(intron variant)
Fucosidosis
GLikely benign
FUCA1
(Q378*)
Indel
(non-coding transcript variant +1 more)
Fucosidosis
GPathogenic
FUCA1
(Q204fs)
Deletion
(frameshift variant +1 more)
Fucosidosis
GPathogenic
FUCA1
(E353*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Fucosidosis
GPathogenic
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1, LOC126805661
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
FUCA1
Single nucleotide variant
(synonymous variant +1 more)
Fucosidosis
GLikely benign
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Items per page
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