U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP2U1-AS1, SGMS2
(R50*)
Single nucleotide variant
(nonsense +1 more)
Calvarial doughnut lesions-bone fragility syndrome
+3 more
GPathogenic/Likely pathogenic
CYP2U1-AS1, SGMS2
(I62S)
Single nucleotide variant
(missense variant +1 more)
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
GPathogenic
CYP2U1-AS1, SGMS2
(M64R)
Single nucleotide variant
(missense variant +1 more)
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
GPathogenic
Format
Sort by
Choose Destination