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Links from MedGen

Items: 1 to 100 of 1236

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Deletion
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Insertion
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(R26H)
Single nucleotide variant
(missense variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(I376V +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC, LOC130056217
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(F388fs +5 more)
Deletion
(frameshift variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC, LOC130056217
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC, LOC130056217
Single nucleotide variant
(synonymous variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Deletion
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC, LOC130056217
Single nucleotide variant
(synonymous variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(splice donor variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Duplication
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(H553R +5 more)
Single nucleotide variant
(missense variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Deletion
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Duplication
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GBenign
GALC
(E218D +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(G170R +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(Y29* +2 more)
Single nucleotide variant
(nonsense +3 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
(G408fs +5 more)
Deletion
(frameshift variant)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(non-coding transcript variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(Y52fs +2 more)
Deletion
(frameshift variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(S116C +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(L340P +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(splice acceptor variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(G312* +5 more)
Single nucleotide variant
(nonsense +1 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(F346L +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Insertion
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(K151fs +4 more)
Deletion
(frameshift variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
(L166* +5 more)
Duplication
(nonsense +1 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(splice donor variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
(synonymous variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(D111H +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
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