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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF213, RNF213-AS1
(V4008F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF213, RNF213-AS1
(D4013N)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GPathogenic
RNF213, RNF213-AS1
(R4131C)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GPathogenic
RNF213, RNF213-AS1
Deletion
(intron variant)
Moyamoya disease 2
GBenign
RNF213, RNF213-AS1
(R4810K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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