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Items: 1 to 100 of 1445

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1204 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
GALC, GPR65
+26 more
Copy number gain
See cases
GLikely benign
GALC, GPR65
+25 more
Copy number gain
See cases
GUncertain significance
GALC
Single nucleotide variant
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC, LOC132090288
Deletion
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Single nucleotide variant
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC, LOC132090288
Deletion
Epilepsy syndrome
GUncertain risk allele
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GBenign
GALC
Deletion
Normal pregnancy
Gnot provided
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GBenign
GALC
Deletion
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Deletion
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
Deletion
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(stop lost +2 more)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
Single nucleotide variant
(stop lost)
not provided
+1 more
GPathogenic/Likely pathogenic
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(R659H +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GConflicting classifications of pathogenicity
GALC
(R474C +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GALC
(R685S +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
(T658A +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(V625G +5 more)
Single nucleotide variant
(missense variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(V655A +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(V681M +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(F653fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALC
(F679fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALC
(L654P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALC
(L657fs +2 more)
Duplication
(frameshift variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(F679L +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(N652S +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(D651fs +2 more)
Deletion
(frameshift variant)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(Q649H +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(E672Q +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(H669fs +2 more)
Microsatellite
(frameshift variant)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(synonymous 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
(T457I +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GALC
(T668S +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
(T645A +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(T642P +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GConflicting classifications of pathogenicity
GALC
(G456R +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GALC
(I643T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALC
(A454T +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GLikely benign
GALC
(W637fs +2 more)
Deletion
(frameshift variant)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
(W640G +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GConflicting classifications of pathogenicity
GALC
(K634N +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
(K634E +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GALC
(K660* +2 more)
Single nucleotide variant
(nonsense)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(P629fs +2 more)
Deletion
(frameshift variant)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
(W625* +2 more)
Single nucleotide variant
(nonsense)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
GALC
(L650P +2 more)
Single nucleotide variant
(missense variant)
See cases
+3 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GALC
(S649F +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
(S623C +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GUncertain significance
GALC
Single nucleotide variant
(synonymous variant +2 more)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
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