U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAN1B1
(Q579fs)
Indel
(frameshift variant +1 more)
See cases
+1 more
GLikely pathogenic
MAN1B1
(S658fs)
Deletion
(frameshift variant +1 more)
Rafiq syndrome
GLikely pathogenic