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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL18A1
(Q217fs +2 more)
Deletion
(frameshift variant)
early onset and severe retinal dystrophy
GPathogenic
COL18A1
(W322* +2 more)
Single nucleotide variant
(nonsense)
early onset and severe retinal dystrophy
GPathogenic
COL18A1
Deletion
early onset and severe retinal dystrophy
GPathogenic
COL18A1
(D1008fs +2 more)
Microsatellite
(frameshift variant)
early onset and severe retinal dystrophy
GPathogenic
COL18A1, SLC19A1
(I1155fs +2 more)
Duplication
(frameshift variant)
early onset and severe retinal dystrophy
GPathogenic
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