U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB4
(G495S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITGB4
(Y921*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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
Format
Sort by
Choose Destination