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
(R1471C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GConflicting classifications of pathogenicity
COL5A2
(R1453Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
+3 more
GConflicting classifications of pathogenicity
COL5A2
(D1356G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+6 more
GConflicting classifications of pathogenicity
COL5A2
(S883Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
+2 more
GConflicting classifications of pathogenicity
COL5A2
(R836P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination