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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALC
(T641A +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GALC
(G638S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALC
Single nucleotide variant
(intron variant)
GALC-related condition
+3 more
GBenign
GALC
(T573A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALC
(Y567S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GALC
Single nucleotide variant
(synonymous variant)
GALC-related condition
+3 more
GBenign
GALC
(I562T +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign; other
GALC
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALC
(Y555* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GALC
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
GALC
(R531H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
(P523T +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
+2 more
GUncertain significance
GALC
(E515K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALC
(F514S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
Deletion
(splice donor variant)
not provided
GPathogenic
GALC
(T468S +2 more)
Single nucleotide variant
(missense variant)
GALC-related condition
+3 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALC
Deletion
(intron variant)
GALC-related condition
+3 more
GBenign
GALC
Deletion
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
GALC
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALC
(M325V +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
GALC
(I305V +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GALC
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
GALC
(S303F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
(W288R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GALC
(T278P +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GALC
(D248N +2 more)
Single nucleotide variant
(missense variant)
GALC-related condition
+3 more
GBenign; other
GALC
(R220* +2 more)
Single nucleotide variant
(nonsense)
Galactosylceramide beta-galactosidase deficiency
+1 more
GPathogenic/Likely pathogenic
GALC
(R210* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
GALC
(E198K +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALC
(R184C +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign; other
GALC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GALC
(N167S +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
+2 more
GUncertain significance
GALC
(I121fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GALC
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALC
(M117V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALC
(T112A +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALC
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
GALC
(G103V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALC
(P89L +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GALC
(I56fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
(R69* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
GALC, LOC130056217
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
+1 more
GPathogenic/Likely pathogenic
GALC, LOC130056217
(G57S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
GALC
Single nucleotide variant
(synonymous variant +1 more)
GALC-related condition
+3 more
GBenign/Likely benign
GALC
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
GALC
(A21P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
GALC
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
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