NBLST1
MCID: NRB010
MIFTS: 49

Neuroblastoma 1 (NBLST1)

Categories: Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuroblastoma 1

MalaCards integrated aliases for Neuroblastoma 1:

Name: Neuroblastoma 1 56 73 6
Nblst1 56 73
Neuroblastoma, Susceptibility to, Type 1 39
Neuroblastoma, Susceptibility to, 1 56

Characteristics:

OMIM:

56
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
incomplete penetrance
genetic heterogeneity
mean age of onset 14-24 months
highly variable clinical phenotype
symptoms vary according to location of tumor
spontaneous tumor regression may occur
usually sporadic, but 1-2% of cases are familial
n-myc oncogene amplification is associated with poor prognosis


HPO:

31
neuroblastoma 1:
Inheritance autosomal dominant inheritance somatic mutation heterogeneous sporadic
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Neuroblastoma 1

OMIM : 56 Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998). Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; 115310). (256700)

MalaCards based summary : Neuroblastoma 1, also known as nblst1, is related to neuroblastoma and alk-related neuroblastic tumor susceptibility. An important gene associated with Neuroblastoma 1 is KIF1B (Kinesin Family Member 1B), and among its related pathways/superpathways are Toll Comparative Pathway and Proteoglycans in cancer. The drugs 3-Iodobenzylguanidine and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are failure to thrive and fever

UniProtKB/Swiss-Prot : 73 Neuroblastoma 1: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.

Related Diseases for Neuroblastoma 1

Diseases in the Neuroblastoma family:

Neuroblastoma 1 Neuroblastoma 2
Neuroblastoma 3 Neuroblastoma 4
Neuroblastoma 5 Neuroblastoma 6
Neuroblastoma 7

Diseases related to Neuroblastoma 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 26, show less)
# Related Disease Score Top Affiliating Genes
1 neuroblastoma 26.2 UBE4B TP53 PTPN11 NBL1 NAV2 KIF1B
2 alk-related neuroblastic tumor susceptibility 10.2 KIF1B ALK
3 nodular ganglioneuroblastoma 10.1 NBL1 ALK
4 autonomic nervous system benign neoplasm 10.1 KIF1B ALK
5 peripheral nervous system benign neoplasm 10.0 KIF1B ALK
6 sarcomatoid transitional cell carcinoma 10.0 TP53 ALK
7 ganglioneuroblastoma 10.0 TP53 ALK
8 parameningeal embryonal rhabdomyosarcoma 10.0 TP53 ALK
9 breast implant-associated anaplastic large cell lymphoma 10.0 TP53 ALK
10 spinal cord oligodendroglioma 9.8 TP53 FGFR1
11 t-cell adult acute lymphocytic leukemia 9.8 TP53 ALK
12 megaesophagus 9.8 TP53 FGFR1
13 pleomorphic carcinoma 9.7 TP53 ALK
14 mesenchymal cell neoplasm 9.7 TP53 ALK
15 pectus excavatum 9.7 TP53 PTPN11
16 hypertelorism, microtia, facial clefting syndrome 9.6 PTPN11 FGFR1
17 pigmented villonodular synovitis 9.5 TP53 PTPN11
18 b-lymphoblastic leukemia/lymphoma 9.3 PTPN11 FGFR1 ALK
19 glioma susceptibility 1 9.2 TP53 PTPN11 FGFR1
20 lymphoma 8.9 TP53 PTPN11 FGFR1 ALK
21 lung squamous cell carcinoma 8.9 TP53 PTPN11 FGFR1 ALK
22 leukemia, chronic myeloid 8.9 TP53 PTPN11 FGFR1 ALK
23 hematologic cancer 8.9 TP53 PTPN11 FGFR1 ALK
24 brain cancer 8.8 TP53 PTPN11 FGFR1 ALK
25 leukemia, acute myeloid 8.5 TP53 PTPN11 FGFR1 FANCA ALK
26 medulloblastoma 8.4 TP53 PTPN11 FGFR1 ALK

Graphical network of the top 20 diseases related to Neuroblastoma 1:



Diseases related to Neuroblastoma 1

Symptoms & Phenotypes for Neuroblastoma 1

Human phenotypes related to Neuroblastoma 1:

31 (showing 22, show less)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 fever 31 HP:0001945
3 ataxia 31 HP:0001251
4 weight loss 31 HP:0001824
5 anemia 31 HP:0001903
6 myoclonus 31 HP:0001336
7 abdominal pain 31 HP:0002027
8 hypertension 31 HP:0000822
9 abnormality of the thorax 31 HP:0000765
10 neuroblastoma 31 HP:0003006
11 bone pain 31 HP:0002653
12 diarrhea 31 HP:0002014
13 horner syndrome 31 HP:0002277
14 skin nodule 31 HP:0200036
15 ganglioneuroma 31 HP:0003005
16 ganglioneuroblastoma 31 HP:0006747
17 opsoclonus 31 HP:0010543
18 spinal cord compression 31 HP:0002176
19 elevated urinary dopamine 31 HP:0011979
20 abdominal mass 31 HP:0031500
21 elevated urinary vanillylmandelic acid 31 HP:0011978
22 elevated urinary homovanillic acid 31 HP:0011977

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Neurologic Central Nervous System:
ataxia
myoclonus
opsoclonus
spinal cord compression
paraneoplastic syndromes

Neoplasia:
ganglioneuroma
ganglioneuroblastoma
neuroblastoma, arises anywhere along the sympathetic chain (including intracranially)
adrenal glands are most common site

Head And Neck Eyes:
horner's syndrome
periorbital ecchymoses (soft tissue involvement)

Chest:
mediastinal mass with calcifications on radiology

Skeletal:
bone pain (with metastatic disease)

Hematology:
anemia (with bone marrow involvement)

Metabolic Features:
fever

Abdomen:
abdominal pain
palpable abdominal mass
abdominal mass with calcifications on radiology

Growth Weight:
weight loss (with disseminated disease)

Cardiovascular Vascular:
hypertension (compression of renal arteries)

Abdomen Gastrointestinal:
diarrhea (due to vasoactive intestinal peptide)

Skin Nails Hair Skin:
bluish skin nodules

Laboratory Abnormalities:
increased urinary catecholamines
increased urinary homovanillic acid (hva)
increased urinary vanillylmandelic acid (vma)
increased urinary dopamine
tumor may secrete vasoactive intestinal peptide (vip)

Clinical features from OMIM:

256700

MGI Mouse Phenotypes related to Neuroblastoma 1:

45 (showing 8, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ALK FGFR1 KIF1B NAV2 NBL1 PTPN11
2 homeostasis/metabolism MP:0005376 9.97 ALK FANCA FGFR1 KIF1B NAV2 PTPN11
3 integument MP:0010771 9.87 ALK FGFR1 KIF1B NAV2 NBL1 PTPN11
4 craniofacial MP:0005382 9.8 FANCA FGFR1 KIF1B PTPN11 TP53
5 nervous system MP:0003631 9.7 ALK FGFR1 KIF1B NAV2 PTPN11 TP53
6 muscle MP:0005369 9.65 FGFR1 KIF1B PTPN11 TP53 UBE4B
7 skeleton MP:0005390 9.56 ALK FANCA FGFR1 KIF1B NAV2 NBL1
8 vision/eye MP:0005391 9.1 ALK FANCA FGFR1 NAV2 PTPN11 TP53

Drugs & Therapeutics for Neuroblastoma 1

Drugs for Neuroblastoma 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 3-Iodobenzylguanidine
2 Radiopharmaceuticals

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Expanded Access Protocol for [123I]mIBG for Patients With Known or Suspected Neuroblastoma Approved for marketing NCT00730444 Iobenguane I 123 Injection
2 Melanocytic-Nevi-Counts During Chemotherapy of Children With Malignancies. Completed NCT00600431
3 An Open Label, Expanded Access Protocol Using 131I-METAIODOBENZYLGUANIDINE (131I-MIBG) Therapy in Patients With Refractory Neuroblastoma, Pheochromocytoma, or Paraganglioma Available NCT01838187

Search NIH Clinical Center for Neuroblastoma 1

Genetic Tests for Neuroblastoma 1

Anatomical Context for Neuroblastoma 1

MalaCards organs/tissues related to Neuroblastoma 1:

40
Bone, Skin, Bone Marrow, Spinal Cord, Adrenal Gland, Brain, Heart

Publications for Neuroblastoma 1

Articles related to Neuroblastoma 1:

(showing 155, show less)
# Title Authors PMID Year
1
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 6 56
18334619 2008
2
A mechanistic classification of clinical phenotypes in neuroblastoma. 56
30523111 2018
3
Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma. 56
27383785 2016
4
Telomerase activation by genomic rearrangements in high-risk neuroblastoma. 56
26466568 2015
5
The genetic landscape of high-risk neuroblastoma. 56
23334666 2013
6
Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. 56
23202128 2013
7
Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. 56
22367537 2012
8
miR-380-5p represses p53 to control cellular survival and is associated with poor outcome in MYCN-amplified neuroblastoma. 56
20871609 2010
9
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 56
20503330 2010
10
ALK-Related Neuroblastic Tumor Susceptibility 6
20301782 2010
11
Cancer: A ringleader identified. 56
18923503 2008
12
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 6
18726616 2008
13
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. 56
18463370 2008
14
Potentiation of neuroblastoma metastasis by loss of caspase-8. 56
16397500 2006
15
Chromosome 1p and 11q deletions and outcome in neuroblastoma. 56
16306521 2005
16
A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. 56
16079250 2005
17
Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma. 56
12687660 2003
18
Screening of infants and mortality due to neuroblastoma. 56
11932470 2002
19
Neuroblastoma screening at one year of age. 56
11932471 2002
20
Neuroblastoma within a congenital orbital teratoma. 56
11831928 2002
21
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours. 56
11870543 2002
22
Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. 56
10087945 1999
23
NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma. 56
9618176 1998
24
Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. 56
9169039 1997
25
Anticipation in pediatric malignancies. 56
9150177 1997
26
Familial predisposition to neuroblastoma does not map to chromosome band 1p36. 56
8758905 1996
27
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. 56
7777541 1995
28
Molecular characterization of a (1;10)(p22;q21) constitutional translocation from a patient with neuroblastoma. 56
7621412 1995
29
Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. 56
7633401 1995
30
Recurrent 1;17 translocations in human neuroblastoma reveal nonhomologous mitotic recombination during the S/G2 phase as a novel mechanism for loss of heterozygosity. 56
8037211 1994
31
Nm23-H1 mutation in neuroblastoma. 56
8047138 1994
32
Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification. 56
8102298 1993
33
Preferential amplification of the paternal allele of the N-myc gene in human neuroblastomas. 56
8102299 1993
34
Neurofibromatosis type 1 gene mutations in neuroblastoma. 56
8490657 1993
35
Constitutional 1p36 deletion in a child with neuroblastoma. 56
8434586 1993
36
Deletion mapping of chromosomes 14q and 1p in human neuroblastoma. 56
1594247 1992
37
Dissociation of suppression of tumorigenicity and differentiation in vitro effected by transfer of single human chromosomes into human neuroblastoma cells. 56
1679663 1991
38
Molecular evaluation of abnormalities of the short arm of chromosome 1 in neuroblastoma. 56
1980608 1990
39
Neuroblastoma consensus deletion maps to 1p36.1-2. 56
2487156 1989
40
Chromosome 1 deletions in human neuroblastomas: generation and fine mapping of microclones from the distal 1p region. 56
2535035 1989
41
Loss of heterozygosity for the short arm of chromosome 1 in human neuroblastomas: correlation with N-myc amplification. 56
2566996 1989
42
Frequent loss of heterozygosity on chromosome 14q in neuroblastoma. 56
2563671 1989
43
Molecular analysis of chromosome 1 abnormalities in neuroblastoma. 56
2776489 1989
44
Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. 56
6700732 1984
45
Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. 56
6888561 1983
46
Specific DNA sequence amplification in human neuroblastoma cells. 56
6577451 1983
47
Chromosome analysis of human neuroblastoma cell line TR14 showing double minutes and an aberration involving chromosome 1. 56
6861117 1983
48
Chromosomal assignment of a family of human oncogenes. 56
6576347 1983
49
Three human transforming genes are related to the viral ras oncogenes. 56
6572964 1983
50
Isolation and preliminary characterization of the transforming gene of a human neuroblastoma cell line. 56
6300838 1983
51
Genetics of familial neuroblastoma: long-range studies. 56
7151041 1982
52
Abnormalities of chromosome 1p in human neuroblastoma tumors and cell lines. 56
7139592 1982
53
Human-tumor-derived cell lines contain common and different transforming genes. 56
6101201 1981
54
Cytogenetic features of human neuroblastomas and cell lines. 56
6171342 1981
55
Sounding board. Regression of neuroblastoma IV-S: a genetic hypothesis. 56
6767985 1980
56
Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient. 56
490809 1979
57
Chromosomal aberrations in human neuroblastomas. 56
922665 1977
58
Double minute chromosomes and the homogeneously staining regions in chromosomes of a human neuroblastoma cell line. 56
71759 1977
59
Evidence for an association between uncommon Gm phenotypes and neuroblastoma. 56
63659 1977
60
Neuroblastoma in father and son. 56
946291 1976
61
Familial neuroblastoma. 56
1185345 1975
62
Familial neuroblastoma presenting as multiple tumors. 56
1138258 1975
63
[Familial neuroblastoma: cytogenetic investigation of the peripheral blood (author's transl)]. 56
1150281 1975
64
Letter: Familial neuroblastoma: a follow-up. 56
4831767 1974
65
Familia neuroblastoma: report of two sib pairs. 56
4685597 1973
66
Mutation and cancer: neuroblastoma and pheochromocytoma. 56
4340974 1972
67
Familial neuroblastoma: report of a kindred with a high incidence of infantile tumors. 56
5016355 1972
68
Familial neuroblastoma. 56
5091536 1971
69
Special pattern of widespread neuroblastoma with a favourable prognosis. 56
4102970 1971
70
Familial neuroblastoma with regression and maturation to ganglioneurofibroma. 56
5775190 1969
71
Familial neuroblastoma. Report of a kindred with multiple disorders, including neuroblastomas in four siblings. 56
6058612 1967
72
IN SITU NEUROBLASTOMAS: A CONTRIBUTION TO THE NATURAL HISTORY OF NEURAL CREST TUMORS. 56
14099453 1963
73
Intrathecal Morphine in the Presence of a Syrinx in Pediatric Spinal Deformity Surgery. 61
31876701 2020
74
Investigation of the Role of Dinutuximab Beta-Based Immunotherapy in the SIOPEN High-Risk Neuroblastoma 1 Trial (HR-NBL1). 61
32013055 2020
75
Bottom up proteomics reveals novel differentiation proteins in neuroblastoma cells treated with 13-cis retinoic acid. 61
31472280 2019
76
Presacral masses and sacrococcygeal teratomas in patients with and without anorectal malformations: A single institution comparative study. 61
30630596 2019
77
Risk stratification of high-risk metastatic neuroblastoma: A report from the HR-NBL-1/SIOPEN study. 61
30015396 2018
78
Scintigraphic evaluation of colonic transit in children with constipation using 67Ga-citrate. 61
30505222 2018
79
Validation of Postinduction Curie Scores in High-Risk Neuroblastoma: A Children's Oncology Group and SIOPEN Group Report on SIOPEN/HR-NBL1. 61
28887399 2018
80
Adrenal Mass: Unusual Presentation and Outcome. 61
29200669 2017
81
[Diagnosis and treatment of the tumors of the parotid region in Pediatrics: cohort]. 61
28481064 2016
82
A tumor profile in Edwards syndrome (trisomy 18). 61
27474103 2016
83
Biodegradable Fixation of the Orbital Rim After Lateral Orbitotomy. 61
25226099 2015
84
Genome wide transcriptomic analysis identifies pathways affected by the infusion of Clostridium perfringens culture supernatant in the duodenum of broilers in situ. 61
26115301 2015
85
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. 61
25742478 2015
86
Expression of the immune regulation antigen CD70 in osteosarcoma. 61
25792975 2015
87
[Comprehensive treatment of neuroblastoma in children associated with opsoclonus-myoclonus-ataxia syndrome]. 61
25224062 2014
88
A phase II trial of a multi-agent oral antiangiogenic (metronomic) regimen in children with recurrent or progressive cancer. 61
24123865 2014
89
Melanoma as a subsequent neoplasm in adult survivors of childhood cancer: a report from the childhood cancer survivor study. 61
22887858 2013
90
[Treatment of thoracolumbar tumors with total en bloc spondylectomy and the results of spinal stability reconstruction]. 61
23880006 2013
91
Focal DNA copy number changes in neuroblastoma target MYCN regulated genes. 61
23308108 2013
92
Targeting gastrin-releasing peptide suppresses neuroblastoma progression via upregulation of PTEN signaling. 61
24039782 2013
93
Canine intracranial neoplasia: clinical risk factors for development of epileptic seizures. 61
21954970 2011
94
¹²³I-MIBG scintigraphy/SPECT versus ¹⁸F-FDG PET in paediatric neuroblastoma. 61
21617976 2011
95
Chasing the ubiquitous RET proto-oncogene in South African MEN2 families--implications for the surgeon. 61
21542403 2010
96
Randomized Trial of prophylactic granulocyte colony-stimulating factor during rapid COJEC induction in pediatric patients with high-risk neuroblastoma: the European HR-NBL1/SIOPEN study. 61
20567002 2010
97
Nav2 is necessary for cranial nerve development and blood pressure regulation. 61
20184720 2010
98
Clinical features and management of ectopic ACTH syndrome at a single institute in Japan. 61
21076235 2010
99
The atRA-responsive gene neuron navigator 2 functions in neurite outgrowth and axonal elongation. 61
18726912 2008
100
[Second neoplasms in children with solid tumours in the years 1992-2007. Experiences of Gdańsk medical academy]. 61
19531840 2008
101
The prognostic impact of functional imaging with (123)I-mIBG in patients with stage 4 neuroblastoma >1 year of age on a high-risk treatment protocol: results of the German Neuroblastoma Trial NB97. 61
18424129 2008
102
Characterization of magnetic resonance images for spinal cord tumors. 61
20411137 2008
103
The spectrum of anorectal malformations in Africa. 61
18386020 2008
104
[Modified "trap-door" thoracotomy for pediatric patients]. 61
18624282 2008
105
A phase II trial of rebeccamycin analogue (NSC #655649) in children with solid tumors: a Children's Oncology Group study. 61
17610262 2008
106
Metastases to soft tissue: a review of 118 cases over a 30-year period. 61
18040999 2008
107
Non-cardiac surgery in patients with prosthetic heart valves: a 12 years experience. 61
17999845 2007
108
[Reactivity of a novel monoclonal antibody ZCH-2B8a on normal hematopoietic cells and malignant cell lines and its significance]. 61
17096904 2006
109
[Mediastinal involvement in the course of proliferative diseases in children in the materials of one institution]. 61
16719166 2005
110
The use of axillary skin crease incision for thoracotomies of neonates and children. 61
12368997 2002
111
Radiotherapy for metastases to the mandible in children. 61
11887137 2002
112
Secondary ovarian neoplasms in children: imaging features with histopathologic correlation. 61
11373927 2001
113
Pediatric core needle biopsy: strengths and limitations in evaluation of masses. 61
11200490 2001
114
Fractionated stereotactic radiation therapy for extracranial head and neck tumors. 61
10974468 2000
115
Incidence of occult cancer in children presenting with musculoskeletal symptoms: a 10-year survey in a pediatric rheumatology unit. 61
10924020 2000
116
Preliminary study of proton magnetic resonance spectroscopy in bone and soft tissue tumors: an unassigned signal at 2.0-2.1 ppm may be a possible indicator of malignant neuroectodermal tumor. 61
10972550 2000
117
[Clinicopathological characteristics and surgical treatment of primary neurogenic tumors of the mediastinum]. 61
11776627 1999
118
Increased plasma atrial natriuretic factor in catecholamine-producing tumor patients. 61
10513832 1999
119
p53/MDM-2 immunohistochemical expression correlated with proliferative activity in different subtypes of human sarcomas: a ten-year follow-up study. 61
9891539 1998
120
Value of abdominal sonography in the assessment of children with abdominal pain. 61
9783246 1998
121
[Central nervous system tumors in children less than three years of age]. 61
9773550 1998
122
Incidence of sepsis after peripheral blood progenitor cells transplantation: analysis of 86 consecutive hemato oncological patients. 61
9669690 1998
123
[Determination of brain death in Intensive Pediatric Therapy]. 61
9658416 1998
124
[A trial of using allogeneic bone marrow transplantation in children with different hematologic neoplastic diseases]. 61
9742640 1998
125
Peritoneal dialysis in children under 5 years of age. 61
9655157 1997
126
Bilateral cystic neuroblastoma: imaging features and differential diagnoses. 61
9285741 1997
127
[Recent advances on retroperitoneal neuroblastoma]. 61
9417295 1997
128
Ultrastructural characterization of oligodendroglial-like cells in central nervous system tumors. 61
8940761 1996
129
Primary mediastinal tumours in the southern region of Saudi Arabia. 61
9018977 1996
130
Screening for neuroblastoma: a 9-year birth cohort-based study in Niigata, Japan. 61
8563231 1995
131
[Operative results in fourteen cases of paranasal sinus and anterior cranial fossa lesions surgically treated by an extended transbasal approach]. 61
7477698 1995
132
[Non-functioning adrenal tumor: clinical analysis of 29 cases]. 61
8731878 1995
133
Outcome of children with opsoclonus-myoclonus regardless of etiology. 61
7575843 1995
134
Secretion of gastrin-releasing peptide by retroperitoneal tumors. 61
7747837 1995
135
Autologous bone marrow transplantation for haematological malignancies--experiences of the centre of Zagreb. 61
7762256 1995
136
A phase II study of carboplatin in children with recurrent or progressive solid tumors. A report from the Childrens Cancer Group. 61
8313334 1994
137
Breast masses in childhood and adolescence. A presentation of 17 cases and a review of the literature. 61
8078727 1994
138
[Clinicopathological study of Ewing's sarcoma and primitive neuroectodermal tumor]. 61
8308411 1993
139
Hypercalcemia complicating childhood malignancies. 61
8508415 1993
140
Studies on the role of recombinant human erythropoietin in the growth regulation of human nonhematopoietic tumor cells in vitro. 61
1878424 1991
141
[Clinical studies of malignant tumors in the nasal cavity]. 61
2177785 1990
142
[The role of interferons in neuroblastoma. 1: Antiproliferative effects]. 61
1697635 1990
143
Immunologic effects of arginine supplementation in tumor-bearing and non-tumor-bearing hosts. 61
2301998 1990
144
Direct sequencing analysis of transmembrane region of human Neu gene by polymerase chain reaction. 61
2206283 1990
145
Management of dumbbell tumours. Reports of seven cases. 61
2353182 1990
146
GD3 expression by cultured human tumor cells of neuroectodermal origin. 61
2609939 1989
147
Maternal serum alpha-fetoprotein is a marker for fetal anomalies in pediatric surgery. 61
2450987 1988
148
Surgical management of thoracic anomalies in infants. Respiratory-tract malformations, congenital chylothorax and mediastinal masses. 61
3387951 1988
149
Unsuspected adrenal masses in the neonate: adrenal cortical carcinoma and neuroblastoma. A report of two cases. 61
3368251 1988
150
Particle-counting immunoassay of a fetuin-like antigen in serum and cerebrospinal fluid. 61
2414036 1985
151
In vitro chemosensitivities of human tumor stem cells to the Phase II drug 4'-(9-acridinylamino)methanesulfon-m-anisidide and prospective in vivo correlations. 61
6897012 1982
152
Human fetal brain antigen expression common to tumors of neuroectodermal tissue origin. 61
6284796 1982
153
Immunocytochemical study of the glial fibrillary acidic protein in human neoplasms of the central nervous system. 61
6281168 1982
154
[Clinical evaluation of cefotiam therapy in children (author's transl)]. 61
6270413 1981
155
Biochemical activity in the metastatic lesions of neuroblastoma. 61
241512 1975

Variations for Neuroblastoma 1

ClinVar genetic disease variations for Neuroblastoma 1:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_001163213.1(FGFR3):c.1082-578T>CSNV other 438762 rs1246952737 4:1805479-1805479 4:1803752-1803752
2 MAP2K4 NM_003010.4(MAP2K4):c.538C>G (p.Leu180Val)SNV other 438770 rs1555550018 17:12011131-12011131 17:12107814-12107814
3 MAP2K7 NM_145185.4(MAP2K7):c.752T>C (p.Leu251Pro)SNV other 438771 rs1555701191 19:7975941-7975941 19:7911056-7911056
4 MET NM_001127500.3(MET):c.985C>A (p.Leu329Ile)SNV other 438775 rs1554378983 7:116340123-116340123 7:116700069-116700069
5 NTRK2 NM_006180.4(NTRK2):c.970T>A (p.Leu324Met)SNV other 438780 rs201362502 9:87342685-87342685 9:84727770-84727770
6 PHF6 NM_001015877.2(PHF6):c.119C>A (p.Ala40Glu)SNV other 438782 rs1556013242 X:133511766-133511766 X:134377736-134377736
7 RBM15 NM_022768.4(RBM15):c.1912C>A (p.Gln638Lys)SNV other 438785 rs1553224979 1:110883939-110883939 1:110341317-110341317
8 TSC2 NM_000548.5(TSC2):c.3284+1G>TSNV other 438793 rs45517289 16:2129430-2129430 16:2079429-2079429
9 ALK NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr)SNV Pathogenic 545115 rs1057519698 2:29445213-29445213 2:29222347-29222347
10 FANCA NM_000135.4(FANCA):c.4261-2A>CSNV Pathogenic 545114 rs915983602 16:89805118-89805118 16:89738710-89738710
11 KIF1B NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn)SNV Pathogenic,risk factor 4662 rs121908164 1:10425534-10425534 1:10365476-10365476
12 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys)SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
13 PTPN11 NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)SNV Pathogenic 13338 rs121918465 12:112888211-112888211 12:112450407-112450407
14 PTPN11 NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala)SNV Pathogenic 13339 rs121918465 12:112888211-112888211 12:112450407-112450407
15 ALK NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)SNV Pathogenic 65670 rs281864719 2:29443697-29443697 2:29220831-29220831
16 ALK NM_004304.5(ALK):c.3733T>G (p.Phe1245Val)SNV Pathogenic 65671 rs281864720 2:29436860-29436860 2:29213994-29213994
17 ALK NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)SNV Pathogenic 217858 rs863225285 2:29432655-29432655 2:29209789-29209789
18 ALK NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)SNV Pathogenic 217856 rs863225283 2:29436859-29436859 2:29213993-29213993
19 ALK NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)SNV Pathogenic 217850 rs281864719 2:29443697-29443697 2:29220831-29220831
20 FGFR1 NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys)SNV Pathogenic 224896 rs779707422 8:38274849-38274849 8:38417331-38417331
21 TP53 NM_001126112.2(TP53):c.842A>G (p.Asp281Gly)SNV Pathogenic 141141 rs587781525 17:7577096-7577096 17:7673778-7673778
22 ALK NM_004304.5(ALK):c.3735C>G (p.Phe1245Leu)SNV Pathogenic 375885 rs863225284 2:29436858-29436858 2:29213992-29213992
23 ALK NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys)SNV Pathogenic 375887 rs1057519697 2:29443696-29443696 2:29220830-29220830
24 ALK NM_004304.5(ALK):c.3512T>A (p.Ile1171Asn)SNV Pathogenic 375888 rs1057519698 2:29445213-29445213 2:29222347-29222347
25 TP53 NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr)SNV Pathogenic 376585 rs764146326 17:7577097-7577097 17:7673779-7673779
26 TP53 NM_001126112.2(TP53):c.841G>A (p.Asp281Asn)SNV Pathogenic 376586 rs764146326 17:7577097-7577097 17:7673779-7673779
27 ALK NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)SNV Pathogenic/Likely pathogenic 217855 rs281864720 2:29436860-29436860 2:29213994-29213994
28 ALK NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217852 rs863225281 2:29443695-29443695 2:29220829-29220829
29 ALK NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217851 rs863225281 2:29443695-29443695 2:29220829-29220829
30 ALK NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217849 rs281864719 2:29443697-29443697 2:29220831-29220831
31 PTPN11 NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)SNV Pathogenic/Likely pathogenic 177754 rs121918453 12:112888198-112888198 12:112450394-112450394
32 TP53 NM_001126112.2(TP53):c.842A>T (p.Asp281Val)SNV Pathogenic/Likely pathogenic 182968 rs587781525 17:7577096-7577096 17:7673778-7673778
33 ALK NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr)SNV Pathogenic/Likely pathogenic 21867 rs113994092 2:29432739-29432739 2:29209873-29209873
34 ALK NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)SNV Pathogenic/Likely pathogenic,risk factor 18083 rs113994087 2:29432664-29432664 2:29209798-29209798
35 ALK NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)SNV Pathogenic/Likely pathogenic,risk factor 18084 rs113994088 2:29445450-29445450 2:29222584-29222584
36 ALK NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)SNV Pathogenic/Likely pathogenic,risk factor 18085 rs113994089 2:29443642-29443642 2:29220776-29220776
37 KIF1B NM_015074.3(KIF1B):c.1937A>T (p.Glu646Val)SNV risk factor 4659 rs121908161 1:10357264-10357264 1:10297206-10297206
38 SMARCA4 NM_001128849.2(SMARCA4):c.535C>T (p.Gln179Ter)SNV Likely pathogenic 590848 rs1469271544 19:11097044-11097044 19:10986368-10986368
39 TP53 NM_001126112.2(TP53):c.841G>C (p.Asp281His)SNV Likely pathogenic 376588 rs764146326 17:7577097-7577097 17:7673779-7673779
40 TP53 NM_001126112.2(TP53):c.842A>C (p.Asp281Ala)SNV Likely pathogenic 376589 rs587781525 17:7577096-7577096 17:7673778-7673778
41 ALK NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu)SNV Likely pathogenic 376712 rs281864720 2:29436860-29436860 2:29213994-29213994
42 ALK NM_004304.5(ALK):c.3497T>G (p.Met1166Arg)SNV Likely pathogenic 376713 rs1057520019 2:29445228-29445228 2:29222362-29222362
43 MYC NM_002467.6(MYC):c.218C>T (p.Thr73Ile)SNV Likely pathogenic 376300 rs756091827 8:128750681-128750681 8:127738435-127738435
44 ALK NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu)SNV Likely pathogenic 376365 rs113994087 2:29432664-29432664 2:29209798-29209798
45 FGFR1 NM_015850.4(FGFR1):c.1630A>G (p.Asn544Asp)SNV Likely pathogenic 376429 rs1057519898 8:38274851-38274851 8:38417333-38417333
46 FGFR1 NM_015850.4(FGFR1):c.1537A>G (p.Met513Val)SNV Likely pathogenic 376430 rs1057519899 8:38275397-38275397 8:38417879-38417879
47 MYC NM_002467.6(MYC):c.217A>C (p.Thr73Pro)SNV Likely pathogenic 376458 rs750664148 8:128750680-128750680 8:127738434-127738434
48 MYC NM_002467.6(MYC):c.173C>T (p.Pro58Leu)SNV Likely pathogenic 376459 rs1057519918 8:128750636-128750636 8:127738390-127738390
49 MYCN , MYCNOS NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)SNV Likely pathogenic 376460 rs1057519919 2:16082317-16082317 2:15942195-15942195
50 PIK3CA NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)SNV Likely pathogenic 376482 rs1057519933 3:178916944-178916944 3:179199156-179199156
51 PIK3CA NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)SNV Likely pathogenic 376483 rs1057519934 3:178916946-178916946 3:179199158-179199158
52 PIK3CA NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)SNV Likely pathogenic 376484 rs1057519935 3:178916945-178916945 3:179199157-179199157
53 PTPN11 NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp)SNV Likely pathogenic 376511 rs121918454 12:112888199-112888199 12:112450395-112450395
54 KIF1B NM_015074.3(KIF1B):c.*2019C>TSNV Conflicting interpretations of pathogenicity 291616 rs185749715 1:10438664-10438664 1:10378606-10378606
55 KIF1B NM_015074.3(KIF1B):c.*4325G>ASNV Conflicting interpretations of pathogenicity 291662 rs141688466 1:10440970-10440970 1:10380912-10380912
56 KIF1B NM_015074.3(KIF1B):c.4017G>T (p.Leu1339Phe)SNV Conflicting interpretations of pathogenicity 291578 rs760253167 1:10421086-10421086 1:10361028-10361028
57 KIF1B NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=)SNV Conflicting interpretations of pathogenicity 291584 rs146436697 1:10435053-10435053 1:10374995-10374995
58 KIF1B NM_015074.3(KIF1B):c.364-10A>GSNV Conflicting interpretations of pathogenicity 291470 rs886044966 1:10321953-10321953 1:10261895-10261895
59 KIF1B NM_015074.3(KIF1B):c.1203A>G (p.Ser401=)SNV Conflicting interpretations of pathogenicity 291520 rs763679404 1:10342498-10342498 1:10282440-10282440
60 KIF1B NM_015074.3(KIF1B):c.315T>C (p.Tyr105=)SNV Conflicting interpretations of pathogenicity 291467 rs144889528 1:10318682-10318682 1:10258624-10258624
61 KIF1B NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile)SNV Conflicting interpretations of pathogenicity 291552 rs142881321 1:10357048-10357048 1:10296990-10296990
62 KIF1B NM_015074.3(KIF1B):c.2847C>T (p.Ile949=)SNV Conflicting interpretations of pathogenicity 291564 rs150904940 1:10394638-10394638 1:10334580-10334580
63 KIF1B NM_015074.3(KIF1B):c.*1117C>TSNV Conflicting interpretations of pathogenicity 291604 rs182518399 1:10437762-10437762 1:10377704-10377704
64 KIF1B NM_015074.3(KIF1B):c.*1715G>TSNV Conflicting interpretations of pathogenicity 291611 rs755083691 1:10438360-10438360 1:10378302-10378302
65 KIF1B NM_015074.3(KIF1B):c.4682G>A (p.Cys1561Tyr)SNV Conflicting interpretations of pathogenicity 291582 rs145969842 1:10428592-10428592 1:10368534-10368534
66 KIF1B NM_015074.3(KIF1B):c.*3035G>ASNV Conflicting interpretations of pathogenicity 291638 rs41301987 1:10439680-10439680 1:10379622-10379622
67 KIF1B NM_015074.3(KIF1B):c.*3418C>TSNV Conflicting interpretations of pathogenicity 291644 rs559140260 1:10440063-10440063 1:10380005-10380005
68 KIF1B NM_015074.3(KIF1B):c.*3857G>ASNV Conflicting interpretations of pathogenicity 291651 rs536529721 1:10440502-10440502 1:10380444-10380444
69 KIF1B NM_015074.3(KIF1B):c.*3930C>TSNV Conflicting interpretations of pathogenicity 291653 rs549049444 1:10440575-10440575 1:10380517-10380517
70 KIF1B NM_015074.3(KIF1B):c.*375A>GSNV Conflicting interpretations of pathogenicity 291597 rs554239975 1:10437020-10437020 1:10376962-10376962
71 FANCA NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)SNV Conflicting interpretations of pathogenicity 545113 rs1216426444 16:89831348-89831348 16:89764940-89764940
72 KIF1B NM_015074.3(KIF1B):c.996C>T (p.Tyr332=)SNV Conflicting interpretations of pathogenicity 476791 rs150411706 1:10336434-10336434 1:10276376-10276376
73 KIF1B NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)SNV Conflicting interpretations of pathogenicity 699521 1:10394587-10394587 1:10334529-10334529
74 KIF1B NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile)SNV Conflicting interpretations of pathogenicity 4660 rs121908162 1:10384896-10384896 1:10324838-10324838
75 KIF1B NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser)SNV Conflicting interpretations of pathogenicity 4661 rs121908163 1:10406001-10406001 1:10345943-10345943
76 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)SNV Conflicting interpretations of pathogenicity 73058 rs121913254 1:115256530-115256530 1:114713909-114713909
77 BRCA1 NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)SNV Conflicting interpretations of pathogenicity 37452 rs80357147 17:41245393-41245393 17:43093376-43093376
78 BRCA2 NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His)SNV Conflicting interpretations of pathogenicity 38194 rs80359143 13:32953617-32953617 13:32379480-32379480
79 ALK NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)SNV Conflicting interpretations of pathogenicity 18086 rs113994091 2:29445273-29445273 2:29222407-29222407
80 KIF1B NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg)SNV Conflicting interpretations of pathogenicity 215880 rs140015591 1:10384871-10384871 1:10324813-10324813
81 KIF1B NM_015074.3(KIF1B):c.2466C>T (p.Asp822=)SNV Conflicting interpretations of pathogenicity 215881 rs145846362 1:10384882-10384882 1:10324824-10324824
82 KIF1B NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=)SNV Conflicting interpretations of pathogenicity 215516 rs147066476 1:10425550-10425550 1:10365492-10365492
83 KIF1B NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala)SNV Conflicting interpretations of pathogenicity 155750 rs200561798 1:10421790-10421790 1:10361732-10361732
84 PTPN11 NM_002834.4(PTPN11):c.215C>T (p.Ala72Val)SNV Conflicting interpretations of pathogenicity 41443 rs121918454 12:112888199-112888199 12:112450395-112450395
85 KIF1B NM_015074.3(KIF1B):c.-127G>ASNV Conflicting interpretations of pathogenicity 291460 rs528568887 1:10270889-10270889 1:10210831-10210831
86 KIF1B NM_015074.3(KIF1B):c.168C>T (p.Tyr56=)SNV Conflicting interpretations of pathogenicity 291466 rs530566864 1:10316366-10316366 1:10256308-10256308
87 DICER1 NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg)SNV Conflicting interpretations of pathogenicity 242032 rs148758903 14:95590785-95590785 14:95124448-95124448
88 KIF1B NM_015074.3(KIF1B):c.107-8T>ASNV Uncertain significance 291464 rs749389756 1:10316297-10316297 1:10256239-10256239
89 KIF1B NM_015074.3(KIF1B):c.-146C>TSNV Uncertain significance 291458 rs867021284 1:10270870-10270870 1:10210812-10210812
90 MSH2 NM_000251.2(MSH2):c.1597C>G (p.Leu533Val)SNV Uncertain significance 186484 rs786202987 2:47693883-47693883 2:47466744-47466744
91 ALK NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)SNV Uncertain significance 218628 rs864309584 2:29446296-29446296 2:29223430-29223430
92 KIF1B NM_001365951.3(KIF1B):c.*4179A>GSNV Uncertain significance 875369 1:10440824-10440824 1:10380766-10380766
93 KIF1B NM_001365951.3(KIF1B):c.*4641T>CSNV Uncertain significance 876403 1:10441286-10441286 1:10381228-10381228
94 KIF1B NM_001365951.3(KIF1B):c.*4648T>CSNV Uncertain significance 874449 1:10441293-10441293 1:10381235-10381235
95 KIF1B NM_001365951.3(KIF1B):c.*4940T>ASNV Uncertain significance 874451 1:10441585-10441585 1:10381527-10381527
96 KIF1B NM_001365951.3(KIF1B):c.*4963G>ASNV Uncertain significance 874452 1:10441608-10441608 1:10381550-10381550
97 KIF1B NM_001365951.3(KIF1B):c.-80+13G>ASNV Uncertain significance 873556 1:10270949-10270949 1:10210891-10210891
98 SOS1 NM_005633.3(SOS1):c.571G>A (p.Glu191Lys)SNV Uncertain significance 40656 rs886041241 2:39281904-39281904 2:39054763-39054763
99 KIF1B NM_001365951.3(KIF1B):c.883-15C>TSNV Uncertain significance 874751 1:10335471-10335471 1:10275413-10275413
100 KIF1B NM_001365951.3(KIF1B):c.3513+7G>TSNV Uncertain significance 876069 1:10399924-10399924 1:10339866-10339866
101 KIF1B NM_001365951.3(KIF1B):c.4642C>G (p.Gln1548Glu)SNV Uncertain significance 876138 1:10425596-10425596 1:10365538-10365538
102 KIF1B NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr)SNV Uncertain significance 876139 1:10425623-10425623 1:10365565-10365565
103 KIF1B NM_015074.3(KIF1B):c.1567A>G (p.Ile523Val)SNV Uncertain significance 408309 rs374848403 1:10355752-10355752 1:10295694-10295694
104 BRCA2 NM_000059.3(BRCA2):c.1075G>A (p.Glu359Lys)SNV Uncertain significance 438754 rs1555281730 13:32906690-32906690 13:32332553-32332553
105 MEN1 NM_000244.3(MEN1):c.262G>T (p.Ala88Ser)SNV Uncertain significance 620610 rs1565651916 11:64577320-64577320 11:64809848-64809848
106 KIF1B NM_015074.3(KIF1B):c.215G>A (p.Arg72His)SNV Uncertain significance 642188 1:10318582-10318582 1:10258524-10258524
107 KIF1B NM_001365951.3(KIF1B):c.*187T>GSNV Uncertain significance 876278 1:10436832-10436832 1:10376774-10376774
108 KIF1B NM_001365951.3(KIF1B):c.*201A>GSNV Uncertain significance 874291 1:10436846-10436846 1:10376788-10376788
109 KIF1B NM_001365951.3(KIF1B):c.*256A>GSNV Uncertain significance 874292 1:10436901-10436901 1:10376843-10376843
110 KIF1B NM_001365951.3(KIF1B):c.*663C>TSNV Uncertain significance 874293 1:10437308-10437308 1:10377250-10377250
111 KIF1B NM_001365951.3(KIF1B):c.*858C>GSNV Uncertain significance 875226 1:10437503-10437503 1:10377445-10377445
112 KIF1B NM_001365951.3(KIF1B):c.*1195C>TSNV Uncertain significance 876180 1:10437840-10437840 1:10377782-10377782
113 KIF1B NM_001365951.3(KIF1B):c.*1224C>TSNV Uncertain significance 876181 1:10437869-10437869 1:10377811-10377811
114 KIF1B NM_001365951.3(KIF1B):c.*1541C>TSNV Uncertain significance 876184 1:10438186-10438186 1:10378128-10378128
115 KIF1B NM_001365951.3(KIF1B):c.*1555T>CSNV Uncertain significance 876185 1:10438200-10438200 1:10378142-10378142
116 KIF1B NM_001365951.3(KIF1B):c.*1566A>TSNV Uncertain significance 876324 1:10438211-10438211 1:10378153-10378153
117 KIF1B NM_001365951.3(KIF1B):c.*1618C>GSNV Uncertain significance 876325 1:10438263-10438263 1:10378205-10378205
118 KIF1B NM_001365951.3(KIF1B):c.*1977G>CSNV Uncertain significance 876326 1:10438622-10438622 1:10378564-10378564
119 KIF1B NM_001365951.3(KIF1B):c.*2114C>GSNV Uncertain significance 874354 1:10438759-10438759 1:10378701-10378701
120 KIF1B NM_001365951.3(KIF1B):c.*2128C>TSNV Uncertain significance 874355 1:10438773-10438773 1:10378715-10378715
121 KIF1B NM_001365951.3(KIF1B):c.*2384A>GSNV Uncertain significance 875277 1:10439029-10439029 1:10378971-10378971
122 KIF1B NM_001365951.3(KIF1B):c.*2435C>ASNV Uncertain significance 875278 1:10439080-10439080 1:10379022-10379022
123 KIF1B NM_001365951.3(KIF1B):c.*3355C>ASNV Uncertain significance 874409 1:10440000-10440000 1:10379942-10379942
124 KIF1B NM_001365951.3(KIF1B):c.*3432A>GSNV Uncertain significance 874410 1:10440077-10440077 1:10380019-10380019
125 KIF1B NM_001365951.3(KIF1B):c.*3481T>CSNV Uncertain significance 874411 1:10440126-10440126 1:10380068-10380068
126 KIF1B NM_001365951.3(KIF1B):c.*3618C>GSNV Uncertain significance 874412 1:10440263-10440263 1:10380205-10380205
127 KIF1B NM_001365951.3(KIF1B):c.*2821C>TSNV Uncertain significance 876238 1:10439466-10439466 1:10379408-10379408
128 KIF1B NM_001365951.3(KIF1B):c.*3841G>ASNV Uncertain significance 875321 1:10440486-10440486 1:10380428-10380428
129 KIF1B NM_001365951.3(KIF1B):c.*3921C>TSNV Uncertain significance 875367 1:10440566-10440566 1:10380508-10380508
130 DICER1 NM_177438.2(DICER1):c.3371A>C (p.His1124Pro)SNV Uncertain significance 571626 rs534996867 14:95570362-95570362 14:95104025-95104025
131 ALK NM_004304.5(ALK):c.164C>A (p.Ala55Glu)SNV Uncertain significance 620599 rs1217013970 2:30143362-30143362 2:29920496-29920496
132 TSC1 NM_000368.4(TSC1):c.2488C>G (p.Gln830Glu)SNV Uncertain significance 620608 rs1564475884 9:135776990-135776990 9:132901603-132901603
133 KIF1B NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)SNV Uncertain significance 801433 1:10399834-10399834 1:10339776-10339776
134 KIF1B NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)SNV Uncertain significance 801434 1:10435429-10435429 1:10375371-10375371
135 KIF1B NM_001365951.3(KIF1B):c.-97G>ASNV Uncertain significance 873555 1:10270919-10270919 1:10210861-10210861
136 KIF1B NM_001365951.3(KIF1B):c.-68G>ASNV Uncertain significance 874553 1:10292319-10292319 1:10232261-10232261
137 KIF1B NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)SNV Uncertain significance 874554 1:10316357-10316357 1:10256299-10256299
138 KIF1B NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)SNV Uncertain significance 874555 1:10318631-10318631 1:10258573-10258573
139 KIF1B NM_001365951.3(KIF1B):c.706C>G (p.Leu236Val)SNV Uncertain significance 875479 1:10328307-10328307 1:10268249-10268249
140 KIF1B NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)SNV Uncertain significance 874752 1:10336419-10336419 1:10276361-10276361
141 KIF1B NM_001365951.3(KIF1B):c.1306A>G (p.Met436Val)SNV Uncertain significance 874847 1:10342463-10342463 1:10282405-10282405
142 KIF1B NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)SNV Uncertain significance 875785 1:10342533-10342533 1:10282475-10282475
143 KIF1B NM_001365951.3(KIF1B):c.1941T>C (p.Thr647=)SNV Uncertain significance 875997 1:10357034-10357034 1:10296976-10296976
144 KIF1B NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)SNV Uncertain significance 875118 1:10384099-10384099 1:10324041-10324041
145 KIF1B NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)SNV Uncertain significance 876068 1:10397143-10397143 1:10337085-10337085
146 KIF1B NM_001365951.3(KIF1B):c.3740T>C (p.Met1247Thr)SNV Uncertain significance 877031 1:10405954-10405954 1:10345896-10345896
147 KIF1B NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)SNV Uncertain significance 877032 1:10407870-10407870 1:10347812-10347812
148 KIF1B NM_001365951.3(KIF1B):c.3953G>A (p.Arg1318His)SNV Uncertain significance 874242 1:10412692-10412692 1:10352634-10352634
149 KIF1B NM_001365951.3(KIF1B):c.4037C>G (p.Ser1346Cys)SNV Uncertain significance 874243 1:10412776-10412776 1:10352718-10352718
150 KIF1B NM_001365951.3(KIF1B):c.4131T>C (p.Tyr1377=)SNV Uncertain significance 874244 1:10421062-10421062 1:10361004-10361004
151 KIF1B NM_015074.3(KIF1B):c.*1049T>CSNV Uncertain significance 291602 rs189075267 1:10437694-10437694 1:10377636-10377636
152 KIF1B NM_015074.3(KIF1B):c.*1104C>TSNV Uncertain significance 291603 rs886044995 1:10437749-10437749 1:10377691-10377691
153 KIF1B NM_015074.3(KIF1B):c.*3644dupduplication Uncertain significance 291646 rs775451005 1:10440288-10440289 1:10380230-10380231
154 KIF1B NM_015074.3(KIF1B):c.*3716C>TSNV Uncertain significance 291648 rs756198031 1:10440361-10440361 1:10380303-10380303
155 KIF1B NM_015074.3(KIF1B):c.364-15A>GSNV Uncertain significance 291469 rs771929965 1:10321948-10321948 1:10261890-10261890
156 KIF1B NM_015074.3(KIF1B):c.*3202C>ASNV Uncertain significance 291641 rs886045008 1:10439847-10439847 1:10379789-10379789
157 KIF1B NM_015074.3(KIF1B):c.*4664_*4665insGinsertion Uncertain significance 291666 rs571589510 1:10441309-10441310 1:10381251-10381252
158 KIF1B NM_015074.3(KIF1B):c.*4742C>ASNV Uncertain significance 291668 rs775958997 1:10441387-10441387 1:10381329-10381329
159 KIF1B NM_015074.3(KIF1B):c.*3386C>TSNV Uncertain significance 291643 rs765149352 1:10440031-10440031 1:10379973-10379973
160 KIF1B NM_015074.3(KIF1B):c.*2786G>ASNV Uncertain significance 291630 rs886045003 1:10439431-10439431 1:10379373-10379373
161 KIF1B NM_015074.3(KIF1B):c.*2840G>ASNV Uncertain significance 291632 rs886045004 1:10439485-10439485 1:10379427-10379427
162 KIF1B NM_015074.3(KIF1B):c.*2858G>CSNV Uncertain significance 291633 rs546229540 1:10439503-10439503 1:10379445-10379445
163 KIF1B NM_015074.3(KIF1B):c.*1999G>TSNV Uncertain significance 291614 rs886044998 1:10438644-10438644 1:10378586-10378586
164 KIF1B NM_015074.3(KIF1B):c.*2687G>ASNV Uncertain significance 291626 rs886045001 1:10439332-10439332 1:10379274-10379274
165 KIF1B NM_015074.3(KIF1B):c.*2567G>CSNV Uncertain significance 291624 rs750420134 1:10439212-10439212 1:10379154-10379154
166 KIF1B NM_015074.3(KIF1B):c.*3146T>CSNV Uncertain significance 291639 rs886045007 1:10439791-10439791 1:10379733-10379733
167 KIF1B NM_015074.3(KIF1B):c.*3789C>TSNV Uncertain significance 291650 rs192963286 1:10440434-10440434 1:10380376-10380376
168 KIF1B NM_015074.3(KIF1B):c.*3958A>GSNV Uncertain significance 291655 rs886045010 1:10440603-10440603 1:10380545-10380545
169 KIF1B NM_001365951.2(KIF1B):c.*249_*250CA[17]short repeat Uncertain significance 291586 rs111663673 1:10436892-10436893 1:10376834-10376835
170 KIF1B NM_015074.3(KIF1B):c.*2743G>ASNV Uncertain significance 291629 rs886045002 1:10439388-10439388 1:10379330-10379330
171 KIF1B NM_015074.3(KIF1B):c.*2978dupduplication Uncertain significance 291636 rs145348144 1:10439620-10439621 1:10379562-10379563
172 KIF1B NM_015074.3(KIF1B):c.4041T>C (p.His1347=)SNV Uncertain significance 291579 rs772429569 1:10421758-10421758 1:10361700-10361700
173 KIF1B NM_001365951.2(KIF1B):c.*249_*250CA[13]short repeat Uncertain significance 291591 rs111663673 1:10436893-10436898 1:10376835-10376840
174 KIF1B NM_001365951.2(KIF1B):c.*249_*250CA[18]short repeat Uncertain significance 291587 rs111663673 1:10436892-10436893 1:10376834-10376835
175 KIF1B NM_015074.3(KIF1B):c.*281_*282dupduplication Uncertain significance 291593 rs886044986 1:10436924-10436925 1:10376866-10376867
176 KIF1B NM_015074.3(KIF1B):c.4127G>A (p.Arg1376His)SNV Uncertain significance 291580 rs149417293 1:10421844-10421844 1:10361786-10361786
177 KIF1B NM_015074.3(KIF1B):c.*1363dupduplication Uncertain significance 291609 rs567435289 1:10437995-10437996 1:10377937-10377938
178 KIF1B NM_015074.3(KIF1B):c.*1997T>CSNV Uncertain significance 291613 rs886044997 1:10438642-10438642 1:10378584-10378584
179 KIF1B NM_015074.3(KIF1B):c.*281_*286deldeletion Uncertain significance 291592 rs886044990 1:10436921-10436926 1:10376863-10376868
180 KIF1B NM_015074.3(KIF1B):c.4545C>T (p.Ser1515=)SNV Uncertain significance 291581 rs751084365 1:10425637-10425637 1:10365579-10365579
181 KIF1B NM_001365951.2(KIF1B):c.*249_*250CA[19]short repeat Uncertain significance 291588 rs111663673 1:10436892-10436893 1:10376834-10376835
182 KIF1B NM_015074.3(KIF1B):c.3929G>A (p.Arg1310His)SNV Uncertain significance 291576 rs140769726 1:10420998-10420998 1:10360940-10360940
183 KIF1B NM_001365951.2(KIF1B):c.*454_*455CT[1]short repeat Uncertain significance 291598 rs886044993 1:10437098-10437099 1:10377040-10377041
184 KIF1B NM_015074.3(KIF1B):c.*744C>ASNV Uncertain significance 291600 rs886044994 1:10437389-10437389 1:10377331-10377331
185 KIF1B NM_015074.3(KIF1B):c.2692G>A (p.Gly898Ser)SNV Uncertain significance 291562 rs755314640 1:10386323-10386323 1:10326265-10326265
186 KIF1B NM_015074.3(KIF1B):c.2991+11G>TSNV Uncertain significance 291565 rs201224213 1:10396811-10396811 1:10336753-10336753
187 KIF1B NM_015074.3(KIF1B):c.3587G>T (p.Ser1196Ile)SNV Uncertain significance 291573 rs745380720 1:10405939-10405939 1:10345881-10345881
188 KIF1B NM_015074.3(KIF1B):c.-79-4A>GSNV Uncertain significance 291462 rs886044965 1:10292304-10292304 1:10232246-10232246
189 KIF1B NM_015074.3(KIF1B):c.608+7T>CSNV Uncertain significance 291471 rs886044967 1:10327623-10327623 1:10267565-10267565
190 KIF1B NM_015074.3(KIF1B):c.1222T>C (p.Leu408=)SNV Uncertain significance 291521 rs886044977 1:10342517-10342517 1:10282459-10282459
191 KIF1B NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr)SNV Uncertain significance 291465 rs143654307 1:10316344-10316344 1:10256286-10256286
192 KIF1B NM_015074.3(KIF1B):c.721-15A>GSNV Uncertain significance 291472 rs755866386 1:10331545-10331545 1:10271487-10271487
193 KIF1B NM_015074.3(KIF1B):c.865-10_865-7deldeletion Uncertain significance 291501 rs886044975 1:10335474-10335477 1:10275416-10275419
194 KIF1B NM_015074.3(KIF1B):c.1020-5deldeletion Uncertain significance 291510 rs886044976 1:10338039-10338039 1:10277981-10277981
195 KIF1B NM_015074.3(KIF1B):c.1159G>A (p.Asp387Asn)SNV Uncertain significance 291513 rs377570278 1:10338183-10338183 1:10278125-10278125
196 KIF1B NM_015074.3(KIF1B):c.*281T>CSNV Uncertain significance 291595 rs201136295 1:10436926-10436926 1:10376868-10376868
197 KIF1B NM_015074.3(KIF1B):c.*305C>TSNV Uncertain significance 291596 rs886044992 1:10436950-10436950 1:10376892-10376892
198 KIF1B NM_015074.3(KIF1B):c.*4919G>ASNV Uncertain significance 291669 rs886045016 1:10441564-10441564 1:10381506-10381506
199 KIF1B NM_015074.3(KIF1B):c.*839C>TSNV Uncertain significance 291601 rs549614550 1:10437484-10437484 1:10377426-10377426
200 KIF1B NM_001365951.2(KIF1B):c.*249_*250CA[14]short repeat Uncertain significance 291590 rs111663673 1:10436893-10436896 1:10376835-10376838
201 KIF1B NM_015074.3(KIF1B):c.*1134G>ASNV Uncertain significance 291607 rs763386544 1:10437779-10437779 1:10377721-10377721
202 KIF1B NM_015074.3(KIF1B):c.*2379T>CSNV Uncertain significance 291622 rs886044999 1:10439024-10439024 1:10378966-10378966
203 KIF1B NM_015074.3(KIF1B):c.*2032T>ASNV Uncertain significance 291617 rs190108168 1:10438677-10438677 1:10378619-10378619
204 KIF1B NM_015074.3(KIF1B):c.*4296T>CSNV Uncertain significance 291661 rs886045013 1:10440941-10440941 1:10380883-10380883
205 KIF1B NM_015074.3(KIF1B):c.*4613G>ASNV Uncertain significance 291664 rs886045014 1:10441258-10441258 1:10381200-10381200
206 KIF1B NM_015074.3(KIF1B):c.3318G>A (p.Thr1106=)SNV Uncertain significance 291570 rs574168097 1:10399860-10399860 1:10339802-10339802
207 KIF1B NM_015074.3(KIF1B):c.*2268C>TSNV Uncertain significance 291620 rs574858597 1:10438913-10438913 1:10378855-10378855
208 KIF1B NM_015074.3(KIF1B):c.*2412A>GSNV Uncertain significance 291623 rs886045000 1:10439057-10439057 1:10378999-10378999
209 KIF1B NM_015074.3(KIF1B):c.3516A>G (p.Arg1172=)SNV Uncertain significance 291572 rs868389032 1:10403311-10403311 1:10343253-10343253
210 KIF1B NM_015074.3(KIF1B):c.*2798C>TSNV Uncertain significance 291631 rs369817908 1:10439443-10439443 1:10379385-10379385
211 KIF1B NM_015074.3(KIF1B):c.*3034C>TSNV Uncertain significance 291637 rs886045006 1:10439679-10439679 1:10379621-10379621
212 KIF1B NM_015074.3(KIF1B):c.*3639T>CSNV Uncertain significance 291645 rs551392566 1:10440284-10440284 1:10380226-10380226
213 KIF1B NM_015074.3(KIF1B):c.3697C>T (p.Pro1233Ser)SNV Uncertain significance 291574 rs886044985 1:10407856-10407856 1:10347798-10347798
214 KIF1B NM_015074.3(KIF1B):c.*4621C>TSNV Uncertain significance 291665 rs535976639 1:10441266-10441266 1:10381208-10381208
215 KIF1B NM_015074.3(KIF1B):c.*4697A>GSNV Uncertain significance 291667 rs886045015 1:10441342-10441342 1:10381284-10381284
216 PHOX2B NM_003924.3(PHOX2B):c.*30_*32dupGCGshort repeat Uncertain significance 348805 rs763380864 4:41747791-41747792 4:41745774-41745775
217 TP53 NM_001126112.2(TP53):c.843C>G (p.Asp281Glu)SNV Uncertain significance 376587 rs1057519984 17:7577095-7577095 17:7673777-7673777
218 KIF1B NM_015074.3(KIF1B):c.*3697A>CSNV Uncertain significance 291647 rs762218807 1:10440342-10440342 1:10380284-10380284
219 KIF1B NM_015074.3(KIF1B):c.*4279dupduplication Likely benign 291660 rs531640427 1:10440921-10440922 1:10380863-10380864
220 PHOX2B NM_003924.3(PHOX2B):c.*24_*32delGCGGCGGCGshort repeat Likely benign 348806 rs763380864 4:41747792-41747800 4:41745775-41745783
221 PHOX2B NM_003924.3(PHOX2B):c.*549dupduplication Likely benign 348798 rs201654270 4:41747274-41747275 4:41745257-41745258
222 KIF1B NM_183416.4(KIF1B):c.-260C>TSNV Likely benign 368793 rs149705989 1:10270756-10270756 1:10210698-10210698
223 KIF1B NM_015074.3(KIF1B):c.*4113C>TSNV Likely benign 291657 rs192312673 1:10440758-10440758 1:10380700-10380700
224 KIF1B NM_015074.3(KIF1B):c.*4127dupduplication Likely benign 291658 rs548680591 1:10440763-10440764 1:10380705-10380706
225 KIF1B NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=)SNV Likely benign 291571 rs140229905 1:10403293-10403293 1:10343235-10343235
226 KIF1B NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)SNV Likely benign 875167 1:10421861-10421861 1:10361803-10361803
227 KIF1B NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)SNV Likely benign 875168 1:10425498-10425498 1:10365440-10365440
228 PTCH1 NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)SNV Likely benign 620611 rs778460384 9:98270589-98270589 9:95508307-95508307
229 KIF1B NM_001365951.3(KIF1B):c.*4041C>GSNV Likely benign 875368 1:10440686-10440686 1:10380628-10380628
230 KIF1B NM_001365951.3(KIF1B):c.*3352G>CSNV Likely benign 874408 1:10439997-10439997 1:10379939-10379939
231 KIF1B NM_001365951.3(KIF1B):c.*1238G>ASNV Likely benign 876182 1:10437883-10437883 1:10377825-10377825
232 KIF1B NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=)SNV Likely benign 696808 1:10423374-10423374 1:10363316-10363316
233 KIF1B NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln)SNV Likely benign 876140 1:10434394-10434394 1:10374336-10374336
234 KIF1B NM_001365951.3(KIF1B):c.363+9C>ASNV Likely benign 801432 1:10318739-10318739 1:10258681-10258681
235 KIF1B NM_001365951.3(KIF1B):c.5409-15G>ASNV Likely benign 876277 1:10436588-10436588 1:10376530-10376530
236 KIF1B NM_001365951.3(KIF1B):c.1435-15C>TSNV Likely benign 875939 1:10351125-10351125 1:10291067-10291067
237 KIF1B NM_001365951.3(KIF1B):c.429+7A>GSNV Likely benign 875478 1:10322035-10322035 1:10261977-10261977
238 KIF1B NM_001365951.3(KIF1B):c.*4238G>TSNV Likely benign 876402 1:10440883-10440883 1:10380825-10380825
239 KIF1B NM_015074.3(KIF1B):c.4839T>C (p.Ser1613=)SNV Likely benign 215883 rs778240671 1:10434404-10434404 1:10374346-10374346
240 KIF1B NM_183416.4(KIF1B):c.-26_-25TA[7]short repeat Likely benign 291463 rs34063243 1:10292359-10292360 1:10232301-10232302
241 KIF1B NM_015074.3(KIF1B):c.184-6_184-5deldeletion Benign/Likely benign 260541 rs138324955 1:10318544-10318545 1:10258486-10258487
242 NF1 NM_001042492.3(NF1):c.7190-33TTGT[3]short repeat Benign/Likely benign 257301 rs149197458 17:29676105-29676116 17:31349087-31349098
243 KIF1B NM_015074.3(KIF1B):c.-208G>CSNV Benign/Likely benign 291457 rs146663377 1:10270808-10270808 1:10210750-10210750
244 KIF1B NM_015074.3(KIF1B):c.-136C>TSNV Benign/Likely benign 291459 rs181820595 1:10270880-10270880 1:10210822-10210822
245 KIF1B NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg)SNV Benign/Likely benign 240956 rs551543997 1:10381802-10381802 1:10321744-10321744
246 KIF1B NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser)SNV Benign/Likely benign 240957 rs117525287 1:10381887-10381887 1:10321829-10321829
247 KIF1B NM_015074.3(KIF1B):c.3917+6A>GSNV Benign/Likely benign 240958 rs76519832 1:10412800-10412800 1:10352742-10352742
248 KIF1B NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met)SNV Benign/Likely benign 240959 rs77172218 1:10428570-10428570 1:10368512-10368512
249 KIF1B NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu)SNV Benign/Likely benign 240960 rs61999305 1:10436626-10436626 1:10376568-10376568
250 KIF1B NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=)SNV Benign/Likely benign 196788 rs147318592 1:10403302-10403302 1:10343244-10343244
251 KIF1B NM_015074.3(KIF1B):c.608+8dupduplication Benign/Likely benign 220468 rs139613776 1:10327623-10327624 1:10267565-10267566
252 KIF1B NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys)SNV Benign/Likely benign 219797 rs143669846 1:10434447-10434447 1:10374389-10374389
253 KIF1B NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=)SNV Benign/Likely benign 220407 rs75413741 1:10435065-10435065 1:10375007-10375007
254 KIF1B NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=)SNV Benign/Likely benign 129400 rs12125492 1:10421878-10421878 1:10361820-10361820
255 KIF1B NM_015074.3(KIF1B):c.3726+6A>CSNV Benign/Likely benign 291575 rs114266141 1:10407891-10407891 1:10347833-10347833
256 KIF1B NM_015074.3(KIF1B):c.2736C>T (p.Asp912=)SNV Benign/Likely benign 291563 rs150831576 1:10386367-10386367 1:10326309-10326309
257 KIF1B NM_015074.3(KIF1B):c.363+6A>CSNV Benign/Likely benign 291468 rs114084418 1:10318736-10318736 1:10258678-10258678
258 KIF1B NM_015074.3(KIF1B):c.-80+1G>TSNV Benign/Likely benign 291461 rs140240544 1:10270937-10270937 1:10210879-10210879
259 KIF1B NM_015074.3(KIF1B):c.1227G>A (p.Thr409=)SNV Benign/Likely benign 291522 rs17034660 1:10342522-10342522 1:10282464-10282464
260 KIF1B NM_015074.3(KIF1B):c.*1159G>ASNV Benign/Likely benign 291608 rs4240913 1:10437804-10437804 1:10377746-10377746
261 KIF1B NM_015074.3(KIF1B):c.3285-15A>TSNV Benign/Likely benign 291569 rs200470260 1:10399812-10399812 1:10339754-10339754
262 KIF1B NM_015074.3(KIF1B):c.3121+9A>GSNV Benign/Likely benign 291566 rs149566646 1:10397270-10397270 1:10337212-10337212
263 KIF1B NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=)SNV Benign/Likely benign 291577 rs116089798 1:10421017-10421017 1:10360959-10360959
264 KIF1B NM_015074.3(KIF1B):c.4808+9C>TSNV Benign/Likely benign 291583 rs72867431 1:10431329-10431329 1:10371271-10371271
265 KIF1B NM_015074.3(KIF1B):c.*712G>ASNV Benign/Likely benign 291599 rs146717943 1:10437357-10437357 1:10377299-10377299
266 KIF1B NM_015074.3(KIF1B):c.*4267A>GSNV Benign/Likely benign 291659 rs77474900 1:10440912-10440912 1:10380854-10380854
267 KIF1B NM_015074.3(KIF1B):c.*3742T>CSNV Benign/Likely benign 291649 rs78868210 1:10440387-10440387 1:10380329-10380329
268 KIF1B NM_015074.3(KIF1B):c.*1986C>GSNV Benign/Likely benign 291612 rs557129908 1:10438631-10438631 1:10378573-10378573
269 KIF1B NM_015074.3(KIF1B):c.*3948G>ASNV Benign/Likely benign 291654 rs553404052 1:10440593-10440593 1:10380535-10380535
270 KIF1B NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys)SNV Benign/Likely benign 291567 rs2297881 1:10397567-10397567 1:10337509-10337509
271 KIF1B NM_015074.3(KIF1B):c.3285-15deldeletion Benign/Likely benign 291568 rs3215996 1:10399812-10399812 1:10339754-10339754
272 KIF1B NM_015074.3(KIF1B):c.*1118G>ASNV Benign/Likely benign 291605 rs7544928 1:10437763-10437763 1:10377705-10377705
273 KIF1B NM_015074.3(KIF1B):c.*1361A>TSNV Benign/Likely benign 291610 rs2847347 1:10438006-10438006 1:10377948-10377948
274 KIF1B NM_015074.3(KIF1B):c.*3988G>ASNV Benign/Likely benign 291656 rs571451087 1:10440633-10440633 1:10380575-10380575
275 KIF1B NM_015074.3(KIF1B):c.*3341C>TSNV Benign/Likely benign 291642 rs139210251 1:10439986-10439986 1:10379928-10379928
276 KIF1B NM_015074.3(KIF1B):c.*2895G>ASNV Benign/Likely benign 291635 rs184232081 1:10439540-10439540 1:10379482-10379482
277 KIF1B NM_015074.3(KIF1B):c.*2661A>TSNV Benign/Likely benign 291625 rs6694522 1:10439306-10439306 1:10379248-10379248
278 KIF1B NM_015074.3(KIF1B):c.*2698G>ASNV Benign/Likely benign 291627 rs115172954 1:10439343-10439343 1:10379285-10379285
279 KIF1B NM_015074.3(KIF1B):c.*2321A>GSNV Benign/Likely benign 291621 rs567547345 1:10438966-10438966 1:10378908-10378908
280 KIF1B NM_015074.3(KIF1B):c.*2740C>ASNV Benign/Likely benign 291628 rs144047666 1:10439385-10439385 1:10379327-10379327
281 KIF1B NM_015074.3(KIF1B):c.*2869C>TSNV Benign/Likely benign 291634 rs3748580 1:10439514-10439514 1:10379456-10379456
282 KIF1B NM_015074.3(KIF1B):c.*3154A>GSNV Benign/Likely benign 291640 rs41310365 1:10439799-10439799 1:10379741-10379741
283 KIF1B NM_015074.3(KIF1B):c.*2012C>TSNV Benign/Likely benign 291615 rs181454124 1:10438657-10438657 1:10378599-10378599
284 KIF1B NM_015074.3(KIF1B):c.*279C>TSNV Benign/Likely benign 291594 rs78490707 1:10436924-10436924 1:10376866-10376866
285 KIF1B NM_015074.3(KIF1B):c.*1133C>TSNV Benign/Likely benign 291606 rs4240912 1:10437778-10437778 1:10377720-10377720
286 KIF1B NM_015074.3(KIF1B):c.*2T>CSNV Benign/Likely benign 291585 rs148690591 1:10436647-10436647 1:10376589-10376589
287 KIF1B NM_015074.3(KIF1B):c.*4392A>GSNV Benign/Likely benign 291663 rs72867441 1:10441037-10441037 1:10380979-10380979
288 KIF1B NM_015074.3(KIF1B):c.*4958G>ASNV Benign/Likely benign 291670 rs150497684 1:10441603-10441603 1:10381545-10381545
289 PHOX2B NM_003924.3(PHOX2B):c.*674dupduplication Benign 348795 rs397840867 4:41747149-41747150 4:41745132-41745133
290 KIF1B NM_015074.3(KIF1B):c.*5019T>CSNV Benign 368794 rs3748581 1:10441664-10441664 1:10381606-10381606
291 KIF1B NM_001365951.2(KIF1B):c.*249_*250CA[15]short repeat Benign 291589 rs111663673 1:10436893-10436894 1:10376835-10376836
292 KIF1B NM_015074.3(KIF1B):c.*2042C>TSNV Benign 291618 rs1536262 1:10438687-10438687 1:10378629-10378629
293 KIF1B NM_015074.3(KIF1B):c.*2247G>ASNV Benign 291619 rs1002076 1:10438892-10438892 1:10378834-10378834
294 KIF1B NM_015074.3(KIF1B):c.*3911A>GSNV Benign 291652 rs1138791 1:10440556-10440556 1:10380498-10380498
295 KIF1B NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)SNV Benign 129401 rs11121552 1:10435324-10435324 1:10375266-10375266
296 KIF1B NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)SNV Benign 129399 rs12402052 1:10318652-10318652 1:10258594-10258594
297 KIF1B NM_001365951.3(KIF1B):c.*4894T>CSNV Benign 874450 1:10441539-10441539 1:10381481-10381481
298 KIF1B NM_001365951.3(KIF1B):c.1777+10C>TSNV Benign 177960 rs3753037 1:10355834-10355834 1:10295776-10295776
299 KIF1B NM_001365951.3(KIF1B):c.*1503C>TSNV Benign 876183 1:10438148-10438148 1:10378090-10378090
300 KIF1B NM_001365951.3(KIF1B):c.*3690C>ASNV Benign 875320 1:10440335-10440335 1:10380277-10380277
301 KIF1B NM_001365951.3(KIF1B):c.*2732G>CSNV Benign 876237 1:10439377-10439377 1:10379319-10379319
302 KIF1B NM_015074.3(KIF1B):c.3747A>C (p.Thr1249=)SNV Benign 543261 rs139159572 1:10408727-10408727 1:10348669-10348669

Expression for Neuroblastoma 1

Search GEO for disease gene expression data for Neuroblastoma 1.

Pathways for Neuroblastoma 1

Pathways related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 TP53 PTPN11 FGFR1
2 11.11 TP53 PTPN11 FGFR1
3 11.03 TP53 PTPN11
4 10.93 PTPN11 FGFR1
5 10.42 TP53 FANCA

GO Terms for Neuroblastoma 1

Biological processes related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 response to UV GO:0009411 9.16 UBE4B TP53
2 brain development GO:0007420 9.13 PTPN11 FGFR1 ALK
3 regulation of cell proliferation GO:0042127 8.92 TP53 FGFR1 FANCA ALK

Molecular functions related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.1 UBE4B TP53 NAV2 KIF1B FGFR1 ALK

Sources for Neuroblastoma 1

3 CDC
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11 DGIdb
17 EFO
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