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Links from MedGen

Items: 1 to 100 of 1295

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALC
(S23*)
Single nucleotide variant
(nonsense +3 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
(Q193* +5 more)
Single nucleotide variant
(nonsense +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(Q212* +5 more)
Indel
(nonsense +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Indel
(nonsense +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
(splice donor variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
(splice donor variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(W346* +5 more)
Single nucleotide variant
(nonsense +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(K417fs +5 more)
Deletion
(frameshift variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(G204R +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(W105* +4 more)
Single nucleotide variant
(nonsense +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(T217A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
GALC
(L163* +5 more)
Single nucleotide variant
(nonsense +1 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Deletion
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Duplication
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Deletion
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Deletion
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Deletion
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
(G122E +4 more)
Single nucleotide variant
(missense variant +2 more)
Galactosylceramide beta-galactosidase deficiency
+1 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(splice acceptor variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
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
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
(E14Q +4 more)
Single nucleotide variant
(missense variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(S194T +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
(S144P +4 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
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(L443V +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
(W140* +4 more)
Single nucleotide variant
(nonsense +2 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
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
Microsatellite
(splice donor variant)
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
(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
(R13G +2 more)
Single nucleotide variant
(missense variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
(G564A +5 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
+1 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC, LOC130056217
(D56H)
Single nucleotide variant
(missense variant +3 more)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
(E251A +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
(intron variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC, LOC130056217
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
(M17K)
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
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/Likely pathogenic
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
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