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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC24A1
(F538fs)
Deletion
(frameshift variant)
Congenital stationary night blindness 1D
GPathogenic
SLC24A1
(F564del)
Deletion
(inframe_deletion)
Congenital stationary night blindness 1D
GPathogenic
SLC24A1
(E801* +2 more)
Single nucleotide variant
(nonsense)
Congenital stationary night blindness 1D
GPathogenic
SLC24A1
(S990R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC24A1
(V1069fs +3 more)
Deletion
(frameshift variant +1 more)
Congenital stationary night blindness 1D
GPathogenic
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