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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALC
(L634S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
(Y567S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GALC
(I562T +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign; other
GALC
(T529M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
(K468fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GALC
(P107L +5 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(G286D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
(D248N +2 more)
Single nucleotide variant
(missense variant)
GALC-related condition
+3 more
GBenign; other
GALC
(D164V +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GPathogenic/Likely pathogenic
GALC
(R184C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign; other
GALC
(T112A +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GALC, LOC130056217
(G57S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
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