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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELANE
(G192fs)
Deletion
(frameshift variant)
Neutropenia, severe congenital, 1, autosomal dominant
GPathogenic
TLR8, TLR8-AS1
(F833S +1 more)
Single nucleotide variant
(missense variant)
Autoimmune hemolytic anemia
+1 more
GUncertain significance
TLR8, TLR8-AS1
(G572V +1 more)
Single nucleotide variant
(missense variant)
Autoimmune hemolytic anemia
+1 more
GPathogenic
CTPS2
(K344N)
Single nucleotide variant
(missense variant)
CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2 deficiency
GBenign
RSPH1
(Q175* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 24
GLikely pathogenic
CXCR2
(R208Q)
Single nucleotide variant
(missense variant)
WHIM syndrome 2
GLikely pathogenic
LPIN2
Deletion
(splice donor variant)
Majeed syndrome
GLikely pathogenic
PLCG2
(G699S)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GLikely pathogenic
LIG4
(G361R +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
GLikely pathogenic
ELANE
(C151S)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
GPathogenic
ACTG2
(R154T +1 more)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
GLikely pathogenic
NDP, NDP-AS1
(F81S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NR1H4
(T245I +4 more)
Single nucleotide variant
(missense variant +1 more)
Cholestasis, progressive familial intrahepatic, 5
GLikely pathogenic
RAB27A
(F46C)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GPathogenic
BTK
(Y422N +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GPathogenic
ICOSLG
(P140S +3 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency
GLikely pathogenic
HAX1
(L125fs +1 more)
Insertion
(frameshift variant)
Kostmann syndrome
GPathogenic
FOXN1
(Y241*)
Single nucleotide variant
(nonsense)
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
GLikely pathogenic
TAP1
(G445D +1 more)
Single nucleotide variant
(missense variant)
MHC class I deficiency
GConflicting classifications of pathogenicity
IL12RB1
(R173W +1 more)
Single nucleotide variant
(missense variant)
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
GPathogenic
DNASE1L3
(W149* +1 more)
Single nucleotide variant
(nonsense)
Autosomal systemic lupus erythematosus type 16
GLikely pathogenic
DNAH11
(W1749*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
+1 more
GPathogenic/Likely pathogenic
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GLikely pathogenic
BLM
(N140fs +1 more)
Duplication
(frameshift variant)
Bloom syndrome
GPathogenic
EPG5
(A1925fs)
Deletion
(frameshift variant)
Vici syndrome
GPathogenic
JAK3
(R775H)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
CD27, CD27-AS1
(W33*)
Single nucleotide variant
(nonsense)
Lymphoproliferative syndrome 2
GLikely pathogenic
RAG2
(R159C)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+2 more
GPathogenic/Likely pathogenic
AP1B1
(M1T)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive keratitis-ichthyosis-deafness syndrome
GLikely pathogenic
ADA
(Y155* +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
GPathogenic
CYBB
(F262C)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, X-linked
GLikely pathogenic
CYBB
Single nucleotide variant
(splice donor variant)
Granulomatous disease, chronic, X-linked
GPathogenic
ZNF341
(C262R +2 more)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
GLikely pathogenic
CARMIL2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
STAT1
(V286F +5 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 31B
GLikely pathogenic
SBDS
(C210Y)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GLikely pathogenic
G6PC3
(G113R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
GLikely pathogenic
COQ2
(L321Q +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
ELANE
(G203R)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
+1 more
GPathogenic
VPS13B
(S2366fs +1 more)
Deletion
(frameshift variant)
Cohen syndrome
GPathogenic
SRPRA
(Q436E +1 more)
Single nucleotide variant
(missense variant)
Severe congenital neutropenia
+1 more
GPathogenic
SRP19
Single nucleotide variant
(intron variant)
Severe congenital neutropenia
+1 more
GPathogenic
GPD1
(G276R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FCHO1
(R600* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency with T and B cell lymphopenia
GPathogenic
FCHO1
Single nucleotide variant
(non-coding transcript variant +1 more)
Immunodeficiency 76
+1 more
GPathogenic
FCHO1
Single nucleotide variant
(splice donor variant)
Severe congenital neutropenia
GPathogenic
FCHO1
(V625fs +1 more)
Duplication
(frameshift variant)
Immunodeficiency 76
+1 more
GPathogenic
FCHO1
(A34P)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 76
+1 more
GPathogenic
FCHO1
(R629P +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Immunodeficiency 76
+1 more
GPathogenic
FAS
(R250* +1 more)
Single nucleotide variant
(nonsense +2 more)
See cases
+3 more
GPathogenic/Likely pathogenic
VPS45
(P148L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
DOCK8
(S1711* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
XIAP
(R381*)
Single nucleotide variant
(nonsense +1 more)
Sepsis
+3 more
GPathogenic
JAK3
(L1035fs)
Deletion
(frameshift variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+1 more
GConflicting classifications of pathogenicity
PRF1
(G149S)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
+5 more
GPathogenic
ADA2
(G316R +3 more)
Single nucleotide variant
(missense variant)
ADA2-related disorder
+2 more
GPathogenic
RAB27A
(Q172fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
TCIRG1
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic
EPCAM
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
JAGN1
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe congenital neutropenia
+2 more
GConflicting classifications of pathogenicity
RAG1
(R699W)
Single nucleotide variant
(missense variant)
Histiocytic medullary reticulosis
+3 more
GConflicting classifications of pathogenicity
WAS
(R13*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
WAS
(I294T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(E7V)
Single nucleotide variant
(missense variant)
not provided
+15 more
GPathogenic
TPI1
(E142D +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
+1 more
GPathogenic/Likely pathogenic
HAX1
(W44*)
Insertion
(nonsense +1 more)
not provided
+1 more
GPathogenic
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