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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIMS2
(S532* +5 more)
Single nucleotide variant
(nonsense +1 more)
Cone-rod synaptic disorder syndrome, congenital nonprogressive
GPathogenic
RIMS2
(R1019* +21 more)
Single nucleotide variant
(nonsense +1 more)
Cone-rod synaptic disorder syndrome, congenital nonprogressive
GPathogenic
RIMS2
Single nucleotide variant
(splice donor variant)
Cone-rod synaptic disorder syndrome, congenital nonprogressive
GPathogenic
RIMS2
(R679* +11 more)
Single nucleotide variant
(nonsense +1 more)
Cone-rod synaptic disorder syndrome, congenital nonprogressive
GPathogenic
RIMS2
(W1002* +11 more)
Single nucleotide variant
(nonsense +1 more)
Cone-rod synaptic disorder syndrome, congenital nonprogressive
GPathogenic
RIMS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
RIMS2
Single nucleotide variant
(intron variant)
Cone-rod synaptic disorder syndrome, congenital nonprogressive
+1 more
GBenign/Likely benign
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