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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF213, RNF213-AS1
(R3846H)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
RNF213, RNF213-AS1
(A3927T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RNF213, RNF213-AS1
(V3933M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RNF213-AS1, RNF213
(D4013N)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GPathogenic
RNF213, RNF213-AS1
(H4014N)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
+1 more
GLikely pathogenic
RNF213, RNF213-AS1
(R4019C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RNF213, RNF213-AS1
(C4032R)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
RNF213, RNF213-AS1
(P4033L)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
RNF213, RNF213-AS1
(E4042K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RNF213-AS1, RNF213
(H4051P)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
RNF213, RNF213-AS1
(R4062Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RNF213, RNF213-AS1
(D4122V)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
RNF213, RNF213-AS1
(A4399T)
Single nucleotide variant
(missense variant)
not provided
GBenign
RNF213, RNF213-AS1
(P4608S)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
RNF213-AS1, RNF213
(G4640S)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
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