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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GBenign/Likely benign
ITGB4, GALK1
(W1548fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GALK1, ITGB4
(R1542C +2 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GUncertain significance
GALK1
(G346S)
Single nucleotide variant
(missense variant)
Deficiency of galactokinase
+1 more
GConflicting classifications of pathogenicity
GALK1
(T288M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALK1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
GALK1
(V128M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALK1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALK1
(G50V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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