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
COL1A1
(R1014C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic
COL1A1
(R312C)
Single nucleotide variant
(missense variant)
Infantile cortical hyperostosis
+12 more
GPathogenic/Likely pathogenic