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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+5 more
GBenign
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 1C, localized
+3 more
GBenign
ITGB4, GALK1
(L1779P +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
GALK1, ITGB4
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa, non-Herlitz type
+4 more
GBenign
GALK1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
GALK1
(R366W)
Single nucleotide variant
(missense variant)
Deficiency of galactokinase
GUncertain significance
GALK1
(L333R)
Single nucleotide variant
(missense variant)
Deficiency of galactokinase
GUncertain significance
GALK1
Single nucleotide variant
(intron variant)
Deficiency of galactokinase
+2 more
GBenign/Likely benign
GALK1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GALK1
(Q154*)
Single nucleotide variant
(nonsense)
Deficiency of galactokinase
GLikely pathogenic
GALK1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GALK1
Single nucleotide variant
(synonymous variant)
Deficiency of galactokinase
GConflicting classifications of pathogenicity
GALK1
Single nucleotide variant
(synonymous variant)
Deficiency of galactokinase
GLikely benign
GALK1
(V32M)
Single nucleotide variant
(missense variant)
Deficiency of galactokinase
GConflicting classifications of pathogenicity
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