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
COL1A2
(P986L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
COL1A2
(G1012S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+8 more
GPathogenic/Likely pathogenic