| Gene |
Mutations |
Phenotype |
Sources |
| ABL1 |
t(9;22) translocation results in fusion with the BCR gene |
Chronic myelogeneous leukemia (CML), acute lymphoblastic leukemia (ALL), myelogenous leukemia (AML) |
(de Klein et al., 1982) |
| ABL2 |
t(1;12)(q25;p13) translocation with ETV6/TEL |
Acute myeloid leukemia |
(Cazzaniga et al., 1999) |
| BLNK |
Base pair substitution of a splice donor site result in reduction of loss of BLNK transcripts |
Human Immundeficiency |
(Minegishi et al., 1999) |
| BLNK |
Complete loss or drastic reduction of expression due to incorporation of alternative exons |
Pre-B-cell Acute Lymphoblastic Leukemia (ALL) |
(Jumaa et al., 2003) |
| BTK |
Missense mutations, deletions or slice site mutations |
X-linked agammaglobulinemia (XLA) |
(Rawlings et al., 1993) |
| CBL |
Translocation with MLL |
Acute myeloid leukemia |
(Fu et al., 2003) |
| CBL |
t(4;11)(q21;q23) |
Acute leukemia |
(Savage et al., 1991) |
| CBL |
t(11;14)(q23;q32) |
B-cell lymphoma |
(Savage et al., 1991) |
| CBL |
t(11;22)(q23;q12) |
Ewing sarcoma |
(Savage et al., 1991) |
| CRK |
Deletions of 17p13.3 |
Isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS) |
(Cardoso et al., 2003) |
| ITK |
t(5;9)(q33;q22) translocation to SYK |
Peripheral T-cell lymphoma |
(Streubel et al., 2005) |
| JAK2 |
t(9;12)(p24;p13) fusion with TEL, results in an constitutive kinase |
Acute lymphoblastic leukemia |
(Lacronique et al., 1997) |
| JAK2 |
t(9;15;12)(p24;q15;p13) fusion with TEL and ETV6 |
Chronic myelogenous leukemia |
(Peeters et al., 1997) |
| JAK2 |
Dominant gain-of-function mutation V617F |
Polycythemia vera and myeloproliferative disorders |
(James et al., 2005; Kralovics et al., 2005) |
| JAK3 |
Nucleotide insertion, substitution or deletion resulting in a frame shift or premature termination. |
SCID, lymphopenia |
(Russell et al., 1995) |
| LCK |
Translocation of the t(1;7)(p34;q34) that fuses LCK and TCRB |
T-cell acute lymphoblastic leukemia (T-cell ALL) |
(Burnett et al., 1991) |
| LCK |
Decrease expression of p56(lck), likely due to alternative splicing of exon 7 |
SCID |
(Goldman et al., 1998) |
| PTPN11 |
Missense mutations altering amino acids D61 at the N-SH2 domain, resulting in gain of function |
Noonan Syndrome |
(Tartaglia et al., 2001) |
| PTPN11 |
Missense mutation in exon 7, 12 and 13 |
Multiple lentigines (ML)/Leopard Syndrome (LS) |
(Digilio et al., 2002) |
| PTPN11 |
95% of mutations are in exon 3 or a defect in exon 13 affecting the protein tyrosine phosphatase domain resulting in a gain of function |
Juvenile Myelomonocytic Leukemia (JMML) |
(Tartaglia et al., 2003) |
| RASA1 |
Nonsense mutations within the SH2 domain |
Basal cell carcinoma |
(Friedman et al., 1993) |
| RASA1 |
A 2bp deletion results in a frameshift and a premature stop codon; a missense mutation in the PH domain |
Capillary malformation-arteriovenous malformation |
(Eerola et al., 2003) |
| SH2D1A |
Mutations or deletions truncating the the protein to not fold and function correctly |
X-linked lymphoproliferative syndrome (XLP) |
(Sayos et al., 1998) |
| SH3BP2 |
Point mutations in exon 9 affect 3 amino acids within the 6 amino acid sequence (RSPPDG) |
Cherubism |
(Ueki et al., 2001) |
| SHIP2 |
Mutation or Deletions, SNPs |
Type 2 Diabetes, hypertension |
(Marion et al., 2002) |
| SRC |
Truncating mutation in the SRC codon 531 |
Advanced Colon Cancer |
(Irby et al., 1999) |
| STAT1 |
Nucleotide substitutions, homozygous deletions generating a premature stop codon |
Susceptibility to mycobacterial and viral disease |
(Dupuis et al., 2001) |
| STAT5B |
Homozygous A630P mutation |
Growth hormone insensitivity with immunodeficiency |
(Kofoed et al., 2003) |
| STAT5B |
t(15;17)(q11.2; q21.1) translocation with RARA |
Acute promyeloyctic leukemia (APL) |
(Arnould et al., 1999) |
| SYK |
t(5;9)(q33;q22) translocation to ITK |
Peripheral T-cell lymphoma |
(Streubel et al., 2005) |
| SYK |
t(9;12)(q22;p12) translocationwith TEL |
Myelodysplastic syndrome (MDS) |
(Kuno et al., 2001) |
| TYK2 |
SNPs resulting in amino acid substitutions in the JAK-homology (JH) regions |
Systemic lupus erythematosus (SLE) |
(Sigurdsson et al., 2005) |
| ZAP70 |
A single base substitution mutation in a splice acceptor site |
SCID (T-cell defect) |
(Chan et al., 1994; Elder et al., 1994) |
