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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM9
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 9
+1 more
GPathogenic
ADAM9
(R164*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ADAM9
(C363S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADAM9
(Y485*)
Single nucleotide variant
(nonsense +1 more)
Cone-rod dystrophy
GPathogenic
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