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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF213
(R941L +1 more)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
RNF213
(V3217I +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
RNF213, RNF213-AS1
(A3608S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
See cases
GUncertain significance
RNF213, RNF213-AS1
(L4010V +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
RNF213, RNF213-AS1
(C4017Y +1 more)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GLikely pathogenic
RNF213, RNF213-AS1
(L4584P +1 more)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
RNF213, RNF213-AS1
(K4732T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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