U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from Orgtrack

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LTBP2
(C418F)
Single nucleotide variant
(missense variant)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
GUncertain significance
MCOLN1
(S143fs)
Deletion
(frameshift variant)
Mucolipidosis type IV
GLikely pathogenic
CHST6
(A161P)
Single nucleotide variant
(missense variant)
Macular corneal dystrophy
GLikely pathogenic
GUCY2D
(E738del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely pathogenic
Format
Sort by
Choose Destination