U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
(D1448G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(R1106Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(A1024V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GConflicting classifications of pathogenicity
COL5A2
(P706L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL5A2
(K431R)
Single nucleotide variant
(missense variant)
COL5A2-related condition
+5 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination