MCID: RHB011
MIFTS: 26

Rhabdoid Tumor Predisposition Syndrome 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhabdoid Tumor Predisposition Syndrome 2

MalaCards integrated aliases for Rhabdoid Tumor Predisposition Syndrome 2:

Name: Rhabdoid Tumor Predisposition Syndrome 2 57 75 29 13 6 73
Rtps2 57 75
Tumor, Rhabdoid, Predisposition Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
increased risk of developing early-onset aggressive cancers


HPO:

32
rhabdoid tumor predisposition syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613325
MedGen 42 C2750074
MeSH 44 D018335
SNOMED-CT via HPO 69 263681008 126951006
UMLS 73 C2750074

Summaries for Rhabdoid Tumor Predisposition Syndrome 2

OMIM : 57 Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014). See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11. (613325)

MalaCards based summary : Rhabdoid Tumor Predisposition Syndrome 2, also known as rtps2, is related to rhabdoid cancer. An important gene associated with Rhabdoid Tumor Predisposition Syndrome 2 is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4). The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and ovary, and related phenotype is neoplasm of the central nervous system.

UniProtKB/Swiss-Prot : 75 Rhabdoid tumor predisposition syndrome 2: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.

Related Diseases for Rhabdoid Tumor Predisposition Syndrome 2

Diseases in the Rhabdoid Tumor Predisposition Syndrome 1 family:

Rhabdoid Tumor Predisposition Syndrome 2

Diseases related to Rhabdoid Tumor Predisposition Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 11.4

Symptoms & Phenotypes for Rhabdoid Tumor Predisposition Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
rhabdoid tumors, malignant
small cell carcinoma of the ovary, hypercalcemic type


Clinical features from OMIM:

613325

Human phenotypes related to Rhabdoid Tumor Predisposition Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 neoplasm of the central nervous system 32 HP:0100006

Drugs & Therapeutics for Rhabdoid Tumor Predisposition Syndrome 2

Drugs for Rhabdoid Tumor Predisposition Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 153)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
3
Etoposide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
4
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
5
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 52-24-4 5453
6
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
7
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
8
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
9
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
10
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
11
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 2019 457193
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Sulfamethoxazole Approved Phase 3 723-46-6 5329
14
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
16
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 143 6006
19
Doxil Approved June 1999 Phase 3,Phase 2 31703
20 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
21 Etoposide phosphate Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
22 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
23 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
25 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
26 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
30 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
31 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
32 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
33 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
34 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
35 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
36 Liver Extracts Phase 3,Phase 1,Phase 2,Not Applicable
37 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
38 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
39 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
40 Anti-Infective Agents Phase 3,Phase 2,Phase 1
41 Adjuvants, Anesthesia Phase 3
42 Analgesics Phase 3
43 Analgesics, Opioid Phase 3
44 Anesthetics Phase 3
45 Anesthetics, General Phase 3
46 Anesthetics, Intravenous Phase 3
47 Central Nervous System Depressants Phase 3
48 Narcotics Phase 3
49 Peripheral Nervous System Agents Phase 3,Phase 1
50 Antidotes Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, Phase 3
2 Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
3 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
5 Combination Chemotherapy Followed by Second-Look Surgery and Radiation Therapy in Treating Children With Nonmetastatic Medulloblastoma or Primitive Neuroectodermal Tumor Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
6 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
8 Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System Active, not recruiting NCT00653068 Phase 3 methotrexate;leucovorin calcium;etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;vincristine sulfate
9 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
10 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
11 Chemotherapy Combined With Radiation Therapy for Newly Diagnosed CNS AT/RT Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
12 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
13 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2 docetaxel
14 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
15 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
16 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
17 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
18 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
19 Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03526250 Phase 2 Palbociclib
20 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
21 Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03220035 Phase 2 Vemurafenib
22 Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) Recruiting NCT03213704 Phase 2 Larotrectinib
23 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
24 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
25 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
26 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
27 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
28 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2 crizotinib
29 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
30 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Immunogenicity, and Preliminary Efficacy of Atezolizumab (Anti-Programmed Death-Ligand 1 [PD-L1] Antibody) in Pediatric and Young Adult Participants With Solid Tumors Active, not recruiting NCT02541604 Phase 1, Phase 2 Atezolizumab
31 Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) Suspended NCT03213665 Phase 2 Tazemetostat
32 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
33 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
34 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Unknown status NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
35 Study of Safety and Efficacy in Patients With Malignant Rhabdoid Tumors (MRT) and Neuroblastoma Completed NCT01747876 Phase 1 LEE011
36 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
37 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
38 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
39 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
40 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1 vorinostat;isotretinoin
41 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide
42 Talabostat Combined With Temozolomide or Carboplatin in Treating Young Patients With Relapsed or Refractory Brain Tumors or Other Solid Tumors Completed NCT00303940 Phase 1 carboplatin;talabostat mesylate;temozolomide
43 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
44 Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Infants With Malignant Brain or Spinal Cord Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
45 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1 carboplatin;etoposide
46 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
47 p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors Completed NCT01975116 Phase 1 azurin-derived cell-penetrating peptide p28
48 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
49 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Recruiting NCT02458339 Phase 1 Methotrexate
50 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib

Search NIH Clinical Center for Rhabdoid Tumor Predisposition Syndrome 2

Genetic Tests for Rhabdoid Tumor Predisposition Syndrome 2

Genetic tests related to Rhabdoid Tumor Predisposition Syndrome 2:

# Genetic test Affiliating Genes
1 Rhabdoid Tumor Predisposition Syndrome 2 29 SMARCA4

Anatomical Context for Rhabdoid Tumor Predisposition Syndrome 2

MalaCards organs/tissues related to Rhabdoid Tumor Predisposition Syndrome 2:

41
Brain, Kidney, Ovary, Spinal Cord, Myeloid, T Cells, Liver

Publications for Rhabdoid Tumor Predisposition Syndrome 2

Variations for Rhabdoid Tumor Predisposition Syndrome 2

ClinVar genetic disease variations for Rhabdoid Tumor Predisposition Syndrome 2:

6
(show top 50) (show all 1974)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCA4 NM_001128844.1(SMARCA4): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs267607070 GRCh37 Chromosome 19, 11143984: 11143984
2 SMARCA4 NM_001128844.1(SMARCA4): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs267607070 GRCh38 Chromosome 19, 11033308: 11033308
3 SMARCA4 NM_003072.3(SMARCA4): c.3533G> A (p.Trp1178Ter) single nucleotide variant Pathogenic rs587777460 GRCh38 Chromosome 19, 11030880: 11030880
4 SMARCA4 NM_003072.3(SMARCA4): c.3533G> A (p.Trp1178Ter) single nucleotide variant Pathogenic rs587777460 GRCh37 Chromosome 19, 11141556: 11141556
5 SMARCA4 NM_001128845.1(SMARCA4): c.4071+1G> A single nucleotide variant Pathogenic rs587777461 GRCh38 Chromosome 19, 11035133: 11035133
6 SMARCA4 NM_001128845.1(SMARCA4): c.4071+1G> A single nucleotide variant Pathogenic rs587777461 GRCh37 Chromosome 19, 11145809: 11145809
7 SMARCA4 NM_001128849.1(SMARCA4): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs587777462 GRCh37 Chromosome 19, 11097152: 11097152
8 SMARCA4 NM_001128849.1(SMARCA4): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs587777462 GRCh38 Chromosome 19, 10986476: 10986476
9 SMARCA4 NM_001128845.1(SMARCA4): c.2617-3C> G single nucleotide variant Pathogenic rs587777463 GRCh38 Chromosome 19, 11021722: 11021722
10 SMARCA4 NM_001128845.1(SMARCA4): c.2617-3C> G single nucleotide variant Pathogenic rs587777463 GRCh37 Chromosome 19, 11132398: 11132398
11 SMARCA4 NM_001128849.1(SMARCA4): c.3239G> A (p.Gly1080Asp) single nucleotide variant Pathogenic rs587777464 GRCh38 Chromosome 19, 11027807: 11027807
12 SMARCA4 NM_001128849.1(SMARCA4): c.3239G> A (p.Gly1080Asp) single nucleotide variant Pathogenic rs587777464 GRCh37 Chromosome 19, 11138483: 11138483
13 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh38 Chromosome 19, 10984271: 10984271
14 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh37 Chromosome 19, 11094947: 11094947
15 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh37 Chromosome 19, 11095944: 11095944
16 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh38 Chromosome 19, 10985268: 10985268
17 SMARCA4 NM_001128849.1(SMARCA4): c.708T> C (p.Pro236=) single nucleotide variant Benign/Likely benign rs62639303 GRCh37 Chromosome 19, 11097217: 11097217
18 SMARCA4 NM_001128849.1(SMARCA4): c.708T> C (p.Pro236=) single nucleotide variant Benign/Likely benign rs62639303 GRCh38 Chromosome 19, 10986541: 10986541
19 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh37 Chromosome 19, 11098463: 11098463
20 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh38 Chromosome 19, 10987787: 10987787
21 SMARCA4 NM_001128849.1(SMARCA4): c.1140C> T (p.His380=) single nucleotide variant Benign/Likely benign rs114594206 GRCh38 Chromosome 19, 10989338: 10989338
22 SMARCA4 NM_001128849.1(SMARCA4): c.1140C> T (p.His380=) single nucleotide variant Benign/Likely benign rs114594206 GRCh37 Chromosome 19, 11100014: 11100014
23 SMARCA4 NM_001128849.1(SMARCA4): c.1236C> T (p.Phe412=) single nucleotide variant Likely benign rs140000691 GRCh37 Chromosome 19, 11100110: 11100110
24 SMARCA4 NM_001128849.1(SMARCA4): c.1236C> T (p.Phe412=) single nucleotide variant Likely benign rs140000691 GRCh38 Chromosome 19, 10989434: 10989434
25 SMARCA4 NM_001128849.1(SMARCA4): c.1287G> A (p.Ala429=) single nucleotide variant Conflicting interpretations of pathogenicity rs143600641 GRCh38 Chromosome 19, 10991191: 10991191
26 SMARCA4 NM_001128849.1(SMARCA4): c.1287G> A (p.Ala429=) single nucleotide variant Conflicting interpretations of pathogenicity rs143600641 GRCh37 Chromosome 19, 11101867: 11101867
27 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh38 Chromosome 19, 10991330: 10991330
28 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh37 Chromosome 19, 11102006: 11102006
29 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh38 Chromosome 19, 10996523: 10996523
30 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh37 Chromosome 19, 11107199: 11107199
31 SMARCA4 NM_001128849.1(SMARCA4): c.2001+8T> G single nucleotide variant Benign/Likely benign rs112549813 GRCh37 Chromosome 19, 11114081: 11114081
32 SMARCA4 NM_001128849.1(SMARCA4): c.2001+8T> G single nucleotide variant Benign/Likely benign rs112549813 GRCh38 Chromosome 19, 11003405: 11003405
33 SMARCA4 NM_001128849.1(SMARCA4): c.2275-3C> A single nucleotide variant Benign/Likely benign rs117611401 GRCh37 Chromosome 19, 11123622: 11123622
34 SMARCA4 NM_001128849.1(SMARCA4): c.2275-3C> A single nucleotide variant Benign/Likely benign rs117611401 GRCh38 Chromosome 19, 11012946: 11012946
35 SMARCA4 NM_001128849.1(SMARCA4): c.2438+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370782232 GRCh38 Chromosome 19, 11013122: 11013122
36 SMARCA4 NM_001128849.1(SMARCA4): c.2438+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370782232 GRCh37 Chromosome 19, 11123798: 11123798
37 SMARCA4 NM_001128849.1(SMARCA4): c.2460C> T (p.Tyr820=) single nucleotide variant Conflicting interpretations of pathogenicity rs372410282 GRCh37 Chromosome 19, 11129654: 11129654
38 SMARCA4 NM_001128849.1(SMARCA4): c.2460C> T (p.Tyr820=) single nucleotide variant Conflicting interpretations of pathogenicity rs372410282 GRCh38 Chromosome 19, 11018978: 11018978
39 SMARCA4 NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=) single nucleotide variant Benign/Likely benign rs113955216 GRCh38 Chromosome 19, 11021865: 11021865
40 SMARCA4 NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=) single nucleotide variant Benign/Likely benign rs113955216 GRCh37 Chromosome 19, 11132541: 11132541
41 SMARCA4 NM_001128849.1(SMARCA4): c.2922delC (p.Phe975Serfs) deletion Pathogenic rs797045980 GRCh37 Chromosome 19, 11134256: 11134256
42 SMARCA4 NM_001128849.1(SMARCA4): c.2922delC (p.Phe975Serfs) deletion Pathogenic rs797045980 GRCh38 Chromosome 19, 11023580: 11023580
43 SMARCA4 NM_001128849.1(SMARCA4): c.2967C> T (p.Pro989=) single nucleotide variant Conflicting interpretations of pathogenicity rs149874634 GRCh37 Chromosome 19, 11134301: 11134301
44 SMARCA4 NM_001128849.1(SMARCA4): c.2967C> T (p.Pro989=) single nucleotide variant Conflicting interpretations of pathogenicity rs149874634 GRCh38 Chromosome 19, 11023625: 11023625
45 SMARCA4 NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=) single nucleotide variant Benign/Likely benign rs56101423 GRCh37 Chromosome 19, 11135078: 11135078
46 SMARCA4 NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=) single nucleotide variant Benign/Likely benign rs56101423 GRCh38 Chromosome 19, 11024402: 11024402
47 SMARCA4 NM_001128849.1(SMARCA4): c.3480dupG (p.Leu1161Alafs) duplication Pathogenic rs797045982 GRCh38 Chromosome 19, 11030827: 11030827
48 SMARCA4 NM_001128849.1(SMARCA4): c.3480dupG (p.Leu1161Alafs) duplication Pathogenic rs797045982 GRCh37 Chromosome 19, 11141503: 11141503
49 SMARCA4 NM_001128849.1(SMARCA4): c.3732C> T (p.Arg1244=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045983 GRCh37 Chromosome 19, 11144151: 11144151
50 SMARCA4 NM_001128849.1(SMARCA4): c.3732C> T (p.Arg1244=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045983 GRCh38 Chromosome 19, 11033475: 11033475

Expression for Rhabdoid Tumor Predisposition Syndrome 2

Search GEO for disease gene expression data for Rhabdoid Tumor Predisposition Syndrome 2.

Pathways for Rhabdoid Tumor Predisposition Syndrome 2

GO Terms for Rhabdoid Tumor Predisposition Syndrome 2

Sources for Rhabdoid Tumor Predisposition Syndrome 2

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