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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
(P2103H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OPA1
(K194fs +8 more)
Deletion
(frameshift variant)
Stargardt disease
+3 more
GPathogenic
PROM1
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GPathogenic
BEST1
Duplication
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GPHN, RDH12
(S203G)
Single nucleotide variant
(missense variant)
Stargardt disease
GLikely pathogenic
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