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St. Jude Molecular Pathology (St. Jude Children's Research Hospital), SJCRH-MP

General information

St. Jude Molecular Pathology, SJCRH-MP
St. Jude Children's Research Hospital
262 Danny Thomas Place
Memphis
Tennessee
United States - 38103
http://www.stjude.org
Organization ID: 506672

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3192

Gene

GeneSubmissionsLast Updated
ACTN11Feb 11, 2026
ADA21Nov 28, 2023
AIP17Feb 23, 2026
ALK55Feb 23, 2026
AMER14Feb 11, 2026
ANKRD2661Feb 23, 2026
AOPEP21Feb 23, 2026
AP3B11Feb 7, 2025
APC85Feb 23, 2026
ATM110Feb 23, 2026
AXIN231Feb 23, 2026
BAP115Feb 23, 2026
BARD129Feb 23, 2026
BLM57Feb 23, 2026
BMPR1A10Feb 11, 2026
BRAF8Feb 23, 2026
BRCA140Feb 23, 2026
BRCA294Jun 5, 2026
BRIP149Feb 23, 2026
BUB1B36Feb 23, 2026
BUB1B-PAK611Feb 23, 2026
C11orf6538Feb 23, 2026
CARD112Feb 11, 2026
CASP102Nov 15, 2024
CBL15Feb 11, 2026
CDAN14Feb 11, 2026
CDC734Feb 23, 2026
CDH121Feb 11, 2026
CDK412Feb 23, 2026
CDKN1B9Feb 11, 2026
CDKN1C7Feb 11, 2026
CDKN2A14Feb 23, 2026
CEBPA17Feb 23, 2026
CHEK232Feb 23, 2026
CLPB1Feb 11, 2026
CREBBP1Oct 7, 2020
CSF3R2Nov 15, 2024
CTC12Feb 7, 2025
CTLA41Feb 7, 2025
CTNNA16Feb 11, 2026
CTR916Feb 23, 2026
DDX4123Feb 23, 2026
DHFR6Feb 23, 2026
DHX344Feb 11, 2026
DICER140Feb 23, 2026
DIS3L221Feb 23, 2026
DKC14Nov 28, 2023
DPP94Feb 11, 2026
DPP9-AS11Feb 7, 2025
EFL14Feb 11, 2026
ELANE2Feb 7, 2025
ELP152Feb 23, 2026
EPCAM14Feb 23, 2026
ERCC22Dec 4, 2018
ERCC457Feb 23, 2026
ERCC63Aug 7, 2021
ERCC6L26Feb 11, 2026
ETV611Feb 11, 2026
EXT117Feb 11, 2026
EXT230Feb 23, 2026
FADD1Feb 11, 2026
FANCA103Feb 23, 2026
FANCB2Feb 11, 2026
FANCC28Feb 23, 2026
FANCD24Feb 11, 2026
FANCD2OS2Feb 11, 2026
FANCG20Feb 23, 2026
FANCI2Feb 11, 2026
FANCL3Feb 7, 2025
FANCM5Feb 7, 2025
FBXW79Feb 23, 2026
FH18Feb 23, 2026
FLCN21Feb 11, 2026
GATA216Feb 23, 2026
GPR16113Feb 23, 2026
GREM14Feb 7, 2025
HAX11Nov 15, 2024
HEATR32Feb 7, 2025
HLTF2Feb 11, 2026
HRAS3Nov 28, 2023
IKZF113Feb 23, 2026
INSL63Feb 11, 2026
ITK1Feb 11, 2026
ITPR31Feb 23, 2026
JAGN12Feb 23, 2026
JAK23Feb 11, 2026
JAK31Feb 7, 2025
KIF1B50Feb 23, 2026
KIT19Feb 23, 2026
KRAS3Feb 11, 2026
LIG41Dec 4, 2018
LIX1L-AS11Feb 7, 2025
LOC1005073469Feb 11, 2026
LOC1053760322Sep 23, 2024
LOC1073033382Feb 7, 2025
LOC1073033406Feb 11, 2026
LOC10798223412Feb 23, 2026
LOC1100112162Aug 30, 2023
LOC1118119652Feb 11, 2026
LOC1124862234Feb 23, 2026
LOC1268056141Feb 7, 2025
LOC1268058511Feb 7, 2025
LOC1268070541Aug 26, 2025
LOC1268602021Jul 26, 2021
LOC1268604381Nov 3, 2021
LOC1268611402Nov 15, 2024
LOC1268612012Feb 11, 2026
LOC1268614522Feb 7, 2025
LOC1268621571Feb 11, 2026
LOC1268625714Aug 30, 2023
LOC1268626061Feb 11, 2026
LOC1268628401Feb 11, 2026
LOC1268628422Feb 11, 2026
LOC1293884461Dec 10, 2021
LOC1293909031Mar 14, 2023
LOC1299295421Jun 23, 2021
LOC1299335353Feb 11, 2026
LOC1299343334Mar 14, 2023
LOC1299926251Feb 7, 2025
LOC1299993031Oct 7, 2020
LOC1300014115Feb 11, 2026
LOC1300021334Nov 15, 2024
LOC1300035543Feb 11, 2026
LOC1300037101Nov 3, 2021
LOC1300046141Oct 7, 2022
LOC1300053681Feb 23, 2026
LOC1300062063Feb 11, 2026
LOC1300558501Nov 15, 2024
LOC1300569312Feb 11, 2026
LOC1300585437Feb 23, 2026
LOC1300589801Nov 15, 2024
LOC1300591311Feb 7, 2025
LOC1300598374Feb 23, 2026
LOC1300628995Nov 15, 2024
LOC1300631931Oct 7, 2020
LOC1300652394Feb 11, 2026
LOC1300670162May 16, 2023
LRBA2Feb 7, 2025
LRRC563Nov 28, 2023
LYST1Feb 11, 2026
LZTR136Feb 23, 2026
MAP2K13Aug 30, 2023
MAP2K210Feb 11, 2026
MAX5Nov 15, 2024
MDM41Feb 7, 2025
MECOM2Feb 7, 2025
MEN18Feb 23, 2026
MET38Feb 11, 2026
MIR4733HG2Feb 11, 2026
MITF19Feb 23, 2026
MLH131Feb 23, 2026
MPIG6B3Feb 11, 2026
MPL2Nov 15, 2024
MRAS1Feb 11, 2026
MSH238Feb 11, 2026
MSH344Feb 23, 2026
MSH659Feb 23, 2026
MUTYH36Feb 23, 2026
MYH94Feb 11, 2026
MYSM13Feb 11, 2026
NAF12Feb 11, 2026
NBN24Feb 23, 2026
NF165Feb 23, 2026
NF212Feb 11, 2026
NHP22Feb 7, 2025
NPM11Feb 23, 2026
NRAS1Feb 7, 2025
NTHL128Feb 23, 2026
NYNRIN33Feb 23, 2026
PAK62Feb 7, 2025
PALB233Feb 23, 2026
PARN1Feb 7, 2025
PAX510Nov 15, 2024
PDGFRA20Feb 11, 2026
PHOX2B5Aug 30, 2023
PIK3CD1Nov 28, 2023
PMS231Feb 23, 2026
POLD139Feb 23, 2026
POLE96Feb 23, 2026
POT119Feb 11, 2026
PPP1CB1Feb 11, 2026
PRF13Feb 11, 2026
PRKAR1A5Feb 11, 2026
PRKCD2Nov 15, 2024
PTCH140Feb 23, 2026
PTCH241Feb 23, 2026
PTEN5Feb 23, 2026
PTPN118Feb 7, 2025
RAD503Feb 7, 2025
RAD511Nov 15, 2024
RAD51C12Feb 23, 2026
RAD51D7Feb 11, 2026
RAD51L3-RFFL7Feb 11, 2026
RAF18Feb 23, 2026
RB162Feb 23, 2026
RBM8A1Feb 7, 2025
RECQL4101Feb 23, 2026
REST14Feb 11, 2026
RET49Feb 23, 2026
RFWD32Feb 7, 2025
RIT14Feb 11, 2026
RPL41Feb 11, 2026
RPL81Feb 7, 2025
RPS201Feb 7, 2025
RPS241Feb 7, 2025
RRAS10Feb 23, 2026
RRAS22Feb 23, 2026
RUNX111Feb 23, 2026
SAMD935Feb 23, 2026
SAMD9L41Feb 23, 2026
SDHA21Feb 23, 2026
SDHAF27Feb 23, 2026
SDHB8Feb 11, 2026
SDHC1Jun 10, 2022
SDHD6Aug 26, 2025
SH2B34Feb 11, 2026
SH2D1A2Feb 7, 2025
SHOC27Feb 11, 2026
SLC37A41Feb 11, 2026
SLX48Feb 11, 2026
SMAD46Feb 11, 2026
SMARCA430Feb 23, 2026
SMARCB18Feb 11, 2026
SMARCE16Feb 23, 2026
SMC42Feb 11, 2026
SMO1Oct 7, 2020
SNAPC51Oct 7, 2020
SOS137Feb 23, 2026
SOS215Feb 23, 2026
SPRED15Feb 7, 2025
SRP723Feb 11, 2026
STAT31Nov 15, 2024
STAT5B1Nov 28, 2023
STK1116Feb 7, 2025
STN11Feb 7, 2025
SUFU11Feb 23, 2026
TCIRG14Feb 7, 2025
TERC1Mar 14, 2023
TERT19Feb 23, 2026
TET21Feb 11, 2026
TET2-AS11Feb 11, 2026
TINF22Feb 11, 2026
TMEM12710Feb 7, 2025
TNFRSF13B1Nov 15, 2024
TP5322Feb 11, 2026
TRIM2822Feb 23, 2026
TRIM3711Feb 23, 2026
TRIM59-IFT802Feb 11, 2026
TSC123Feb 23, 2026
TSC258Feb 23, 2026
TSPAN319Feb 23, 2026
TUBB11Feb 11, 2026
USB11Feb 7, 2025
VHL9Feb 11, 2026
VPS13B9Feb 23, 2026
VRK22Feb 7, 2025
WAS1Oct 7, 2020
WIPF11Feb 11, 2026
WIPF1-AS11Feb 11, 2026
WRAP533Feb 11, 2026
WRN1Aug 9, 2018
WT126Feb 23, 2026
XRCC21Feb 7, 2025
ZNF27619Feb 11, 2026

Condition

NameSubmissionsLast Updated
Acute leukemia of ambiguous lineage1Aug 9, 2018
Acute lymphoid leukemia12Feb 23, 2026
Acute monoblastic leukemia1Dec 4, 2018
Acute monocytic leukemia1Dec 4, 2018
Acute myeloid leukemia20Feb 23, 2026
Acute promyelocytic leukemia1Dec 4, 2018
Anaplastic ependymoma2Dec 4, 2018
Anemia, congenital dyserythropoietic, type 1a4Feb 11, 2026
Astrocytoma, anaplastic1Aug 9, 2018
Ataxia-pancytopenia syndrome36Feb 23, 2026
Ataxia-telangiectasia syndrome63Feb 11, 2026
Atypical teratoid rhabdoid tumor1Dec 4, 2018
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1Feb 7, 2025
Autoimmune lymphoproliferative syndrome type 2A2Nov 15, 2024
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2Nov 15, 2024
Autosomal dominant aplasia and myelodysplasia3Feb 11, 2026
Autosomal recessive osteopetrosis 12Feb 7, 2025
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2Nov 15, 2024
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency2Feb 23, 2026
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL11Dec 4, 2018
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged1Dec 4, 2018
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified4Dec 4, 2018
B lymphoblastic leukemia lymphoma with hyperdiploidy1Dec 4, 2018
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)4Dec 4, 2018
B lymphoblastic leukemia lymphoma, no ICD-O subtype2Aug 9, 2018
B-lymphoblastic leukemia/lymphoma with hypodiploidy1Dec 4, 2018
BAP1-related tumor predisposition syndrome12Feb 23, 2026
Baller-Gerold syndrome2Nov 15, 2024
Basal cell nevus syndrome 144Feb 23, 2026
Basal cell nevus syndrome 21Feb 11, 2026
Beckwith-Wiedemann syndrome7Feb 11, 2026
Birt-Hogg-Dube syndrome11Nov 28, 2023
Birt-Hogg-Dube syndrome 19Feb 11, 2026
Bloom syndrome57Feb 23, 2026
Bone marrow failure syndrome3Feb 23, 2026
Bone marrow failure syndrome 43Feb 11, 2026
Bone marrow failure syndrome 61Feb 7, 2025
Breast-ovarian cancer, familial, susceptibility to, 129Feb 23, 2026
Breast-ovarian cancer, familial, susceptibility to, 266Jun 5, 2026
Breast-ovarian cancer, familial, susceptibility to, 312Feb 23, 2026
Breast-ovarian cancer, familial, susceptibility to, 47Feb 11, 2026
Breast-ovarian cancer, familial, susceptibility to, 55Jun 25, 2025
Burkitt lymphoma1Aug 9, 2018
CBL-related disorder13Feb 11, 2026
Cardio-facio-cutaneous syndrome1Jun 15, 2021
Cardiofaciocutaneous syndrome 32Aug 30, 2023
Cardiofaciocutaneous syndrome 47Feb 11, 2026
Carney complex, type 15Feb 11, 2026
Cerebroretinal microangiopathy with calcifications and cysts 21Feb 7, 2025
Chédiak-Higashi syndrome1Feb 11, 2026
Cockayne syndrome2Oct 7, 2020
Cockayne syndrome type 21Aug 7, 2021
Coffin-Siris syndrome 56Feb 23, 2026
Cohen syndrome9Feb 23, 2026
Colorectal cancer, hereditary nonpolyposis, type 229Feb 23, 2026
Colorectal cancer, susceptibility to, 1039Feb 23, 2026
Colorectal cancer, susceptibility to, 1296Feb 23, 2026
Combined immunodeficiency due to LRBA deficiency2Feb 7, 2025
Congenital diarrhea 5 with tufting enteropathy1Jun 12, 2024
Congenital fibrosarcoma2Jan 31, 2023
Costello syndrome3Nov 28, 2023
Cowden syndrome 14Feb 23, 2026
Craniopharyngioma8Dec 4, 2018
DDX41-related hematologic malignancy predisposition syndrome23Feb 23, 2026
DHX34-associated thromobocytopenia1Nov 28, 2023
DICER1-related tumor predisposition14Dec 10, 2021
Deficiency of adenosine deaminase 21Nov 28, 2023
Desmoid tumor1Aug 9, 2018
Developmental delay, hypotonia, and impaired language9Feb 23, 2026
Diamond-Blackfan anemia3Feb 11, 2026
Diamond-Blackfan anemia 212Feb 7, 2025
Diamond-Blackfan anemia 31Feb 7, 2025
Diffuse intrinsic pontine glioma3Dec 4, 2018
Dyskeratosis congenita4Feb 7, 2025
Dyskeratosis congenita, X-linked4Nov 28, 2023
Dyskeratosis congenita, autosomal dominant 11Mar 14, 2023
Dyskeratosis congenita, autosomal dominant 217Feb 23, 2026
Dyskeratosis congenita, autosomal dominant 32Feb 11, 2026
Dyskeratosis congenita, autosomal recessive 22Feb 7, 2025
Dyskeratosis congenita, autosomal recessive 33Feb 11, 2026
Dyskeratosis congenita, autosomal recessive 61Feb 7, 2025
Embryonal rhabdomyosarcoma1Dec 4, 2018
Ependymoma1Dec 4, 2018
Ewing sarcoma2Dec 4, 2018
Ewing sarcoma of soft tissue1Dec 4, 2018
Exostoses, multiple, type 116Feb 11, 2026
Exostoses, multiple, type 225Feb 23, 2026
FADD-related immunodeficiency1Feb 11, 2026
Familial adenomatous polyposis 182Feb 23, 2026
Familial adenomatous polyposis 233Feb 23, 2026
Familial adenomatous polyposis 328Feb 23, 2026
Familial adenomatous polyposis 444Feb 23, 2026
Familial cancer of breast120Feb 23, 2026
Familial hemophagocytic lymphohistiocytosis 23Feb 11, 2026
Familial isolated pituitary adenoma18Nov 3, 2021
Familial melanoma2Dec 10, 2021
Familial multiple polyposis syndrome1Jun 21, 2021
Familial myelodysplastic syndrome2Feb 11, 2026
Fanconi anemia23Feb 7, 2025
Fanconi anemia complementation group A89Feb 23, 2026
Fanconi anemia complementation group B2Feb 11, 2026
Fanconi anemia complementation group C25Feb 23, 2026
Fanconi anemia complementation group D24Feb 11, 2026
Fanconi anemia complementation group G18Feb 23, 2026
Fanconi anemia complementation group I2Feb 11, 2026
Fanconi anemia complementation group J17Sep 11, 2025
Fanconi anemia complementation group L3Feb 7, 2025
Fanconi anemia complementation group N1Nov 28, 2023
Fanconi anemia complementation group P6Feb 11, 2026
Fanconi anemia complementation group Q19Aug 26, 2025
Fanconi anemia complementation group U1Feb 7, 2025
Fanconi anemia, complementation group W2Feb 7, 2025
Fumarase deficiency2Jul 23, 2024
GATA2 deficiency with susceptibility to MDS/AML9Feb 7, 2025
Ganglioglioma1Dec 4, 2018
Gastric adenocarcinoma and proximal polyposis of the stomach1Aug 30, 2023
Gastrointestinal stromal tumor19Feb 23, 2026
Generalized juvenile polyposis/juvenile polyposis coli3Dec 10, 2021
Germinoma1Dec 4, 2018
Glioblastoma2Aug 9, 2018
Glioblastoma multiforme1Dec 4, 2018
Glucose-6-phosphate transport defect1Feb 11, 2026
Gorlin syndrome35Nov 28, 2023
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1Nov 28, 2023
Hatipoglu immunodeficiency syndrome4Feb 11, 2026
Hepatoblastoma1Dec 4, 2018
Hereditary breast ovarian cancer syndrome43Jun 10, 2022
Hereditary diffuse gastric adenocarcinoma27Feb 11, 2026
Hereditary leiomyomatosis and renal cell cancer16Feb 23, 2026
Hereditary mixed polyposis syndrome2Oct 7, 2022
Hereditary papillary renal cell carcinoma1Jun 21, 2021
Hereditary pheochromocytoma and paraganglioma8Jun 10, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX110Feb 23, 2026
Hermansky-Pudlak syndrome 21Feb 7, 2025
High grade surface osteosarcoma1Dec 4, 2018
Hyperparathyroidism 2 with jaw tumors4Feb 23, 2026
Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy1Feb 23, 2026
Immunodeficiency 141Nov 28, 2023
Immunodeficiency 751Feb 11, 2026
Immunodeficiency, common variable, 21Nov 15, 2024
Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia1Mar 14, 2023
Juvenile polyposis syndrome11Feb 11, 2026
Kostmann syndrome1Nov 15, 2024
LZTR1-related schwannomatosis1Oct 7, 2022
Legius syndrome5Feb 7, 2025
Leukemia, acute lymphoblastic, susceptibility to, 310Nov 15, 2024
Li-Fraumeni syndrome3Oct 7, 2020
Li-Fraumeni syndrome 117Feb 11, 2026
Lymphoma2Aug 9, 2018
Lymphoproliferative syndrome 11Feb 11, 2026
Lynch syndrome31Dec 15, 2020
Lynch syndrome 126Feb 11, 2026
Lynch syndrome 424Feb 23, 2026
Lynch syndrome 545Feb 23, 2026
Lynch syndrome 813Feb 23, 2026
MIRAGE syndrome11Nov 28, 2023
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss4Feb 11, 2026
Macrothrombocytopenia, isolated, 1, autosomal dominant1Feb 11, 2026
Malignant fibrous histiocytoma1Dec 4, 2018
Malignant germ cell tumor of ovary2Aug 9, 2018
Malignant glioma1Dec 4, 2018
Medulloblastoma69Feb 23, 2026
Melanoma, cutaneous malignant, susceptibility to, 39Feb 23, 2026
Melanoma, cutaneous malignant, susceptibility to, 819Feb 23, 2026
Melanoma-pancreatic cancer syndrome12Feb 23, 2026
Microcephaly, normal intelligence and immunodeficiency24Feb 23, 2026
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified1Dec 4, 2018
Mixed phenotype acute leukemia with t(v;11q23.3)1Dec 4, 2018
Monosomy 7 myelodysplasia and leukemia syndrome 16Nov 28, 2023
Monosomy 7 myelodysplasia and leukemia syndrome 223Feb 23, 2026
Mosaic variegated aneuploidy syndrome5Nov 3, 2021
Mosaic variegated aneuploidy syndrome 131Feb 23, 2026
Mulibrey nanism syndrome11Feb 23, 2026
Multiple congenital exostosis6Jun 10, 2022
Multiple endocrine neoplasia type 2A39Feb 23, 2026
Multiple endocrine neoplasia type 49Feb 11, 2026
Multiple endocrine neoplasia, type 17Feb 23, 2026
Multiple endocrine neoplasia, type 26Dec 10, 2021
Myelodysplastic syndrome5Feb 23, 2026
Nephroblastoma2Dec 4, 2018
Neuroblastoma5Dec 4, 2018
Neuroblastoma, susceptibility to, 124Feb 23, 2026
Neuroblastoma, susceptibility to, 24Aug 30, 2023
Neuroblastoma, susceptibility to, 343Feb 23, 2026
Neurofibromatosis, type 157Feb 23, 2026
Neurofibromatosis, type 212Feb 11, 2026
Neutropenia, severe congenital, 1, autosomal dominant4Feb 7, 2025
Neutropenia, severe congenital, 9, autosomal dominant1Feb 11, 2026
Nijmegen breakage syndrome-like disorder3Feb 7, 2025
Noonan syndrome38Feb 23, 2026
Noonan syndrome 13Feb 7, 2025
Noonan syndrome 1035Feb 23, 2026
Noonan syndrome 111Feb 11, 2026
Noonan syndrome 31Feb 11, 2026
Noonan syndrome 428Feb 23, 2026
Noonan syndrome 53Feb 23, 2026
Noonan syndrome 61Feb 7, 2025
Noonan syndrome 76Feb 23, 2026
Noonan syndrome 84Feb 11, 2026
Noonan syndrome 915Feb 23, 2026
Noonan syndrome-like disorder with loose anagen hair 16Feb 11, 2026
Noonan syndrome-like disorder with loose anagen hair 21Feb 11, 2026
Oligodontia-cancer predisposition syndrome31Feb 23, 2026
Optic nerve glioma2Aug 9, 2018
Osteoblastic osteosarcoma1Dec 4, 2018
Osteopathia striata with cranial sclerosis4Feb 11, 2026
PTEN hamartoma tumor syndrome1Jun 21, 2021
Pancytopenia due to IKZF1 mutations1Mar 14, 2023
Pancytopenia-developmental delay syndrome6Feb 11, 2026
Papillary renal cell carcinoma type 137Feb 11, 2026
Papillary thyroid carcinoma2Dec 4, 2018
Perlman syndrome21Feb 23, 2026
Peutz-Jeghers syndrome13Feb 7, 2025
Pheochromocytoma35Feb 23, 2026
Pheochromocytoma/paraganglioma syndrome 14Aug 26, 2025
Pheochromocytoma/paraganglioma syndrome 27Feb 23, 2026
Pheochromocytoma/paraganglioma syndrome 31Jun 10, 2022
Pheochromocytoma/paraganglioma syndrome 44Feb 11, 2026
Pheochromocytoma/paraganglioma syndrome 519Feb 23, 2026
Pilocytic astrocytoma5Dec 4, 2018
Pituitary carcinoma1Aug 9, 2018
Platelet-type bleeding disorder 151Feb 11, 2026
Pleomorphic xanthoastrocytoma1Aug 9, 2018
Pleuropulmonary blastoma26Feb 23, 2026
Poikiloderma with neutropenia1Feb 7, 2025
Polyposis syndrome, hereditary mixed, 12Feb 7, 2025
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal19Feb 11, 2026
Precursor B-cell acute lymphoblastic leukemia4Aug 9, 2018
Predisposition to Wilms tumor58Feb 23, 2026
Predisposition to cancer32Feb 23, 2026
Predisposition to medulloblastoma1Oct 7, 2022
Predisposition to myelodysplastic syndrome1Nov 28, 2023
Predisposition to neuroblastoma1Jun 21, 2021
Predisposition to thrombocytopenia3Feb 11, 2026
Primitive neuroectodermal tumor1Dec 4, 2018
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 72Feb 11, 2026
Radial aplasia-thrombocytopenia syndrome1Feb 7, 2025
Radioulnar synostosis with amegakaryocytic thrombocytopenia 22Feb 7, 2025
Retinoblastoma69Feb 23, 2026
Rhabdoid tumor predisposition syndrome 16Feb 11, 2026
Rhabdoid tumor predisposition syndrome 231Feb 23, 2026
Rothmund-Thomson syndrome1Oct 7, 2020
Rothmund-Thomson syndrome type 295Feb 23, 2026
Rubinstein-Taybi syndrome due to CREBBP mutations1Oct 7, 2020
STAT3-related early-onset multisystem autoimmune disease1Nov 15, 2024
Severe combined immunodeficiency due to CARD11 deficiency2Feb 11, 2026
Shwachman-Diamond syndrome 24Feb 11, 2026
Somatotroph adenoma11Feb 23, 2026
T-B+ severe combined immunodeficiency due to JAK3 deficiency1Feb 7, 2025
Thrombocythemia 23Feb 11, 2026
Thrombocythemia 33Feb 11, 2026
Thrombocytopenia 261Feb 23, 2026
Thrombocytopenia 511Feb 11, 2026
Thrombocytopenia, anemia, and myelofibrosis2Feb 7, 2025
Thrombocytosis4Feb 11, 2026
Tuberous sclerosis 116Feb 23, 2026
Tuberous sclerosis 246Feb 23, 2026
Tuberous sclerosis syndrome12Nov 3, 2021
Tumor predisposition syndrome 319Feb 11, 2026
Uveal melanoma1Dec 4, 2018
Von Hippel-Lindau syndrome8Feb 11, 2026
Wilms Tumor Predisposition3Nov 15, 2024
Wilms tumor 133Feb 23, 2026
Wilms tumor 614Feb 11, 2026
Wiskott-Aldrich syndrome1Oct 7, 2020
Wiskott-Aldrich syndrome 21Feb 11, 2026
X-linked lymphoproliferative disease due to SH2D1A deficiency2Feb 7, 2025
Xeroderma pigmentosum, group F38Feb 23, 2026
not specified1Oct 7, 2020