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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF213
(C118R)
Single nucleotide variant
(missense variant)
not provided
GBenign
RNF213
(L133M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RNF213
(I209N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RNF213
(P395L)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
RNF213
(A1135V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
RNF213
(T1705K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
RNF213
(P1721L)
Single nucleotide variant
(missense variant)
not provided
GBenign
RNF213
(A1844T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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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