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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAG1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(S13A)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(H84R)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
Deletion
(frameshift variant)
Recombinase activating gene 1 deficiency
GPathogenic
RAG1
Single nucleotide variant
(synonymous variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
(R142*)
Single nucleotide variant
(nonsense)
Recombinase activating gene 1 deficiency
GPathogenic
RAG1
(D162E)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GLikely benign
RAG1
(C176F)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(E193K)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
(Q242R)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GLikely benign
RAG1
(H249R)
Single nucleotide variant
(no sequence alteration +1 more)
Recombinase activating gene 1 deficiency
GBenign
RAG1
(S259fs)
Deletion
(frameshift variant)
Recombinase activating gene 1 deficiency
GPathogenic
RAG1
(D302E)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
(M355T)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(C363Y)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(A444V)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GPathogenic
RAG1
(R449K)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
(P525S)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
(R764H)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(E814D)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(K820R)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
Indel
(nonsense)
Recombinase activating gene 1 deficiency
GPathogenic
RAG1
(A868V)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
(E880K)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
RAG1
Single nucleotide variant
(synonymous variant)
Recombinase activating gene 1 deficiency
GLikely benign
RAG1
(Y938*)
Single nucleotide variant
(nonsense)
Recombinase activating gene 1 deficiency
GLikely pathogenic
RAG1
(W959*)
Single nucleotide variant
(nonsense)
Recombinase activating gene 1 deficiency
GPathogenic
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