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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIMS1
(H12Y)
Single nucleotide variant
(missense variant +2 more)
Cone-rod dystrophy 7
GUncertain significance
RIMS1
(R416C +8 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 7
+1 more
GUncertain significance
RIMS1
(G496R +36 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 7
GUncertain significance
RIMS1
(A545V +36 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 7
GUncertain significance
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