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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL9A3
Single nucleotide variant
(splice donor variant)
Lattice retinal degeneration
+1 more
GLikely pathogenic
COL2A1
(G282fs +1 more)
Insertion
(frameshift variant)
Retinal detachment
GPathogenic
EYS
(P1385fs)
Deletion
(frameshift variant)
Visual impairment
+4 more
GUncertain significance
RHO
(S297R)
Single nucleotide variant
(missense variant)
not provided
+12 more
GPathogenic
NDP, NDP-AS1
(K104fs)
Duplication
(non-coding transcript variant +1 more)
Retinal detachment
GLikely pathogenic
COL9A3
(G130S)
Single nucleotide variant
(missense variant)
Intervertebral disc disorder
+4 more
GConflicting classifications of pathogenicity
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