U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
(G203V)
Single nucleotide variant
(missense variant)
Cataract
+12 more
GLikely pathogenic
Translocation
Decreased testicular size
+5 more
GUncertain significance