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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDHR1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 15
+2 more
GPathogenic/Likely pathogenic
CDHR1
(C4fs)
Deletion
(frameshift variant)
Cone-rod dystrophy 15
GLikely pathogenic
CDHR1
(F353S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDHR1
(R407*)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 15
+1 more
GPathogenic
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