U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SVBP
(K13fs)
Deletion
(frameshift variant)
Microcephaly
+2 more
GPathogenic
SVBP
(Q28*)
Single nucleotide variant
(nonsense)
Lower limb spasticity
+4 more
GPathogenic/Likely pathogenic