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Items: 1 to 100 of 1383

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
GALC, GPR65
+25 more
Copy number gain
See cases
GLikely benign
LOC132090289, LOC132090290
+24 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
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
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)
Galactosylceramide beta-galactosidase deficiency
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
GBenign
GALC
Deletion
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
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
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)
Galactosylceramide beta-galactosidase deficiency
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
GBenign
GALC
Single nucleotide variant
(3 prime UTR variant)
Galactosylceramide beta-galactosidase deficiency
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
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
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)
Galactosylceramide beta-galactosidase deficiency
GPathogenic
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(R659H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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 provided
+2 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)
Galactosylceramide beta-galactosidase deficiency
+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)
Galactosylceramide beta-galactosidase deficiency
+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
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
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
GALC
(W637fs +2 more)
Deletion
(frameshift variant)
Galactosylceramide beta-galactosidase deficiency
GLikely pathogenic
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)
Galactosylceramide beta-galactosidase deficiency
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)
not provided
+2 more
GConflicting classifications of pathogenicity
GALC
Single nucleotide variant
(synonymous variant)
Galactosylceramide beta-galactosidase deficiency
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
GALC
(K648* +2 more)
Single nucleotide variant
(nonsense)
Galactosylceramide beta-galactosidase deficiency
+1 more
GConflicting classifications of pathogenicity
GALC
(L619R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GALC
(T615A +2 more)
Inversion
(missense variant)
Galactosylceramide beta-galactosidase deficiency
GLikely benign
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