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Links from MedGen

Items: 1 to 100 of 461

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCLRE1C
(S242* +2 more)
Single nucleotide variant
(missense variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
Single nucleotide variant
(splice donor variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(S62fs)
Deletion
(frameshift variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GPathogenic/Likely pathogenic
DCLRE1C
Single nucleotide variant
(splice donor variant)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(Q473* +2 more)
Single nucleotide variant
(nonsense +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(Q92fs)
Duplication
(frameshift variant +2 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(Y482fs +2 more)
Duplication
(frameshift variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GConflicting classifications of pathogenicity
DCLRE1C
(A362fs +2 more)
Duplication
(frameshift variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(P119fs +2 more)
Deletion
(frameshift variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(E464fs +2 more)
Duplication
(frameshift variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(C320fs +2 more)
Microsatellite
(frameshift variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(D491fs +2 more)
Deletion
(frameshift variant +2 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
Single nucleotide variant
(splice donor variant)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
Microsatellite
(nonsense +1 more)
Histiocytic medullary reticulosis
+1 more
GPathogenic/Likely pathogenic
DCLRE1C
(Q106* +2 more)
Single nucleotide variant
(nonsense +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
Duplication
(nonsense +2 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(Y163fs +2 more)
Deletion
(frameshift variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(L139* +2 more)
Single nucleotide variant
(nonsense +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(G395fs +2 more)
Deletion
(frameshift variant +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(Q322* +2 more)
Single nucleotide variant
(nonsense +1 more)
Histiocytic medullary reticulosis
GLikely pathogenic
DCLRE1C
(P293fs +2 more)
Deletion
(frameshift variant +1 more)
Histiocytic medullary reticulosis
+1 more
GPathogenic/Likely pathogenic
DCLRE1C
(L111fs)
Microsatellite
(5 prime UTR variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GPathogenic/Likely pathogenic
DCLRE1C
(S447fs +2 more)
Duplication
(frameshift variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
DCLRE1C
(I481fs +2 more)
Duplication
(non-coding transcript variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GConflicting classifications of pathogenicity
RAG1
(W180*)
Single nucleotide variant
(nonsense)
Histiocytic medullary reticulosis
+1 more
GLikely pathogenic
RAG1
(K86*)
Single nucleotide variant
(nonsense)
Histiocytic medullary reticulosis
GLikely pathogenic
RAG1
(A69G)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+3 more
GUncertain significance
DCLRE1C
Single nucleotide variant
(splice acceptor variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GLikely pathogenic
DCLRE1C
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GLikely pathogenic
DCLRE1C
(K366fs +2 more)
Deletion
(frameshift variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GPathogenic/Likely pathogenic
DCLRE1C
(S32F)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
Microsatellite
(intron variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GPathogenic/Likely pathogenic
RAG2
(R159C)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
+2 more
GPathogenic/Likely pathogenic
RAG1
(I950fs)
Deletion
(frameshift variant)
Combined immunodeficiency due to partial RAG1 deficiency
+3 more
GPathogenic/Likely pathogenic
DCLRE1C
(R191* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C, SUV39H2
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+2 more
GBenign
RAG2
(I228F)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
+2 more
GUncertain significance
DCLRE1C
(S297A +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GUncertain significance
DCLRE1C
(G6E)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C, SUV39H2
Copy number gain
Histiocytic medullary reticulosis
+1 more
Gnot provided
DCLRE1C
Single nucleotide variant
(synonymous variant +1 more)
Histiocytic medullary reticulosis
+1 more
GConflicting classifications of pathogenicity
RAG2
(Y277fs)
Duplication
(frameshift variant)
Recombinase activating gene 2 deficiency
GPathogenic
RAG2
(R148*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency with skin granulomas
+2 more
GPathogenic
RAG1
(R404Q)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+4 more
GPathogenic
DCLRE1C
(G104fs +2 more)
Deletion
(frameshift variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GPathogenic/Likely pathogenic
DCLRE1C
(I16T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
RAG2
(V109D)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
RAG1
(E122V)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(P37L)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GConflicting classifications of pathogenicity
RAG2
(N268H)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
RAG2
(A456D)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
RAG2
(G342E)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+1 more
GLikely benign
RAG2
(L522F)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+1 more
GUncertain significance
RAG2
(T7A)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(G26A)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(M110V)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(I112T)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency with skin granulomas
+1 more
GLikely benign
RAG2
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency with skin granulomas
+1 more
GLikely benign
RAG2
(T304I)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(D306G)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(T326I)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
RAG2
(L329R)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(Y346C)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
(E370G)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
GUncertain significance
RAG2
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency with skin granulomas
+1 more
GLikely benign
DCLRE1C
Deletion
(intron variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
Single nucleotide variant
(intron variant)
Histiocytic medullary reticulosis
GUncertain significance
DCLRE1C
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
(Y212N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(Q132H +2 more)
Single nucleotide variant
(missense variant +1 more)
Histiocytic medullary reticulosis
GUncertain significance
DCLRE1C
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
DCLRE1C
(R240Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GUncertain significance
DCLRE1C
(D269Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Histiocytic medullary reticulosis
GUncertain significance
DCLRE1C
(K486Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Histiocytic medullary reticulosis
GUncertain significance
DCLRE1C
(K490E +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
RAG1
(S982Y)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+3 more
GUncertain significance
RAG2
(R464C)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
RAG2
(D380Y)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
DCLRE1C
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(I543V +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GUncertain significance
DCLRE1C
(T89A)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
RAG2
(R148Q)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+1 more
GUncertain significance
DCLRE1C
(R549* +2 more)
Single nucleotide variant
(nonsense +2 more)
Histiocytic medullary reticulosis
+1 more
GConflicting classifications of pathogenicity
RAG2
(N53H)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+1 more
GUncertain significance
RAG2
(L240F)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+1 more
GUncertain significance
RAG1
(M661del)
Deletion
(inframe_deletion)
Combined immunodeficiency due to partial RAG1 deficiency
+3 more
GConflicting classifications of pathogenicity
DCLRE1C
(S307* +2 more)
Single nucleotide variant
(nonsense +1 more)
Histiocytic medullary reticulosis
+1 more
GPathogenic/Likely pathogenic
RAG2
(G472R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+1 more
GUncertain significance
RAG2
(K498*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency with skin granulomas
+2 more
GConflicting classifications of pathogenicity
RAG2
(L514F)
Single nucleotide variant
(missense variant)
Combined immunodeficiency with skin granulomas
+1 more
GUncertain significance
RAG2
(W430*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency with skin granulomas
+2 more
GLikely pathogenic
DCLRE1C
(C482fs +2 more)
Deletion
(frameshift variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GConflicting classifications of pathogenicity
RAG1
(C363Y)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
RAG1
Single nucleotide variant
(3 prime UTR variant)
Histiocytic medullary reticulosis
+1 more
GUncertain significance
RAG1
Single nucleotide variant
(3 prime UTR variant)
Histiocytic medullary reticulosis
+1 more
GUncertain significance
RAG1
Single nucleotide variant
(3 prime UTR variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
RAG1
Single nucleotide variant
(3 prime UTR variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
RAG1
(V596M)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GUncertain significance
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