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Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL2RG
Single nucleotide variant
(splice acceptor variant)
X-linked severe combined immunodeficiency
GPathogenic
DCLRE1C
(E104K)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(T46I)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(E88K)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
IL7R
Single nucleotide variant
(intron variant)
Immunodeficiency 104
GUncertain significance
DCLRE1C
(A44D)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(K36E)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(R81Q)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
ADA
Single nucleotide variant
(splice acceptor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
DCLRE1C
(A28P)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(S32C)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(S119*)
Single nucleotide variant
(nonsense +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(L47*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(F19L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
ADA
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
DCLRE1C
(P12S)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
JAK3
Single nucleotide variant
(intron variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely pathogenic
JAK3
Single nucleotide variant
(splice acceptor variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
RAG2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Recombinase activating gene 2 deficiency
GLikely pathogenic
JAK3
(K59*)
Single nucleotide variant
(nonsense)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely pathogenic
DCLRE1C
(M8I)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
RAG2
(G32V)
Single nucleotide variant
(missense variant)
Recombinase activating gene 2 deficiency
GUncertain significance
DCLRE1C
Single nucleotide variant
(intron variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(C116R)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
Single nucleotide variant
(splice acceptor variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
IL7R
(L14S)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 104
GUncertain significance
DCLRE1C
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
ADA
(N193K +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
IL2RG
Single nucleotide variant
(intron variant)
X-linked severe combined immunodeficiency
GUncertain significance
DCLRE1C
(A208V +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I83V)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
ADA
(P273L +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
ADA
Single nucleotide variant
(splice acceptor variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
JAK3
(R771*)
Single nucleotide variant
(nonsense)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
DCLRE1C
(S32F)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(Q92H)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I82T)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
RAG2
(G44*)
Single nucleotide variant
(nonsense)
Recombinase activating gene 2 deficiency
GPathogenic
ADA
(Y201* +1 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
IL2RG
(C72*)
Single nucleotide variant
(nonsense)
X-linked severe combined immunodeficiency
GLikely pathogenic
IL2RG, LOC126863274
Single nucleotide variant
(splice donor variant)
X-linked severe combined immunodeficiency
GPathogenic
DCLRE1C
(Y60*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
IL7R
(V127I)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 104
GPathogenic
ADA
(E120* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
IL7R
(E79*)
Single nucleotide variant
(nonsense +1 more)
Immunodeficiency 104
GLikely pathogenic
DCLRE1C
(R191* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
IL7R
(R206*)
Single nucleotide variant
(nonsense)
Immunodeficiency 104
GPathogenic
DCLRE1C
(G6E)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
IL2RG
(H354R)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GLikely benign
IL2RG
(S326N)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GLikely benign
RAG2
(Y277fs)
Duplication
(frameshift variant)
Recombinase activating gene 2 deficiency
GPathogenic
ADA, LOC107303343
(Y67*)
Single nucleotide variant
(nonsense +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely pathogenic
DCLRE1C
(I16T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
DCLRE1C
(N205I +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
RAG1
(R764H)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
DCLRE1C
(H33Y)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(I14T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
RAG1
Indel
(nonsense)
Recombinase activating gene 1 deficiency
GPathogenic
IL2RG
Single nucleotide variant
(splice donor variant)
X-linked severe combined immunodeficiency
GPathogenic
DCLRE1C
(V107I)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(D17G)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(Y212N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(D136N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
ADA
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
DCLRE1C
(S82N +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(T89A)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
IL2RG
(A359V)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GUncertain significance
RAG1
(W959*)
Single nucleotide variant
(nonsense)
Recombinase activating gene 1 deficiency
GPathogenic
IL2RG
(H104L)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GLikely benign
IL2RG
Single nucleotide variant
(synonymous variant)
X-linked severe combined immunodeficiency
GLikely pathogenic
DCLRE1C
(A9T)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(G211A +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
IL2RG
Single nucleotide variant
(splice acceptor variant)
X-linked severe combined immunodeficiency
GPathogenic
IL2RG
(Y69*)
Single nucleotide variant
(nonsense)
X-linked severe combined immunodeficiency
GPathogenic
RAG1
(C363Y)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GUncertain significance
JAK3
(V773I)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
ADA
(D179G +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GUncertain significance
JAK3
(V299A)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
RAG1
(D162E)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GLikely benign
DCLRE1C
(S94Y)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
JAK3
(P764L)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
DCLRE1C
(E5Q)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(G118*)
Single nucleotide variant
(nonsense +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GPathogenic
DCLRE1C
(E105D)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
DCLRE1C
(R18H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GUncertain significance
IL2RG
(T369A)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GUncertain significance
IL7R
(Q89*)
Single nucleotide variant
(nonsense +1 more)
Immunodeficiency 104
GLikely pathogenic
IL2RG
(K98E)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GUncertain significance
DCLRE1C
(L69*)
Single nucleotide variant
(nonsense +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely pathogenic
IL7R
(L69V)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 104
GUncertain significance
IL2RG
(I111T)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GLikely benign
DCLRE1C
(V186L +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
RAG1
(P525S)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GBenign
DCLRE1C
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
GLikely benign
IL2RG
Single nucleotide variant
(synonymous variant)
X-linked severe combined immunodeficiency
GLikely benign
JAK3
(G313E)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
ADA, LOC107303343
Single nucleotide variant
(synonymous variant +2 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GLikely benign
IL7R
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency 104
GLikely benign
IL7R
(S105N)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 104
GLikely benign
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