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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ITGB4
(R670H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GBenign/Likely benign
ITGB4
(R977C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
GALK1, ITGB4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa, junctional 5A, intermediate
+3 more
GLikely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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