ClinVar Miner

Variants from St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
251 114 2712 54 17 3147

Gene and significance breakdown #

Total genes and gene combinations: 253
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLE 0 1 95 0 0 96
RECQL4 7 2 86 0 0 95
BRCA2 12 1 75 5 1 94
APC 4 0 77 3 1 85
FANCA 8 2 64 0 0 74
ATM 6 2 59 2 0 69
NF1 19 4 39 0 1 63
RB1 38 4 20 0 0 62
ANKRD26 0 0 58 0 0 58
MSH6 2 2 53 1 0 58
BLM 6 2 49 0 0 57
TSC2 0 0 53 2 0 55
ALK 1 0 52 1 0 54
ELP1 5 3 44 0 0 52
BRIP1 2 4 42 0 0 48
KIF1B 0 0 48 0 0 48
RET 1 0 44 2 0 47
ERCC4 2 2 39 1 0 44
DICER1 8 0 28 3 1 40
SAMD9L 1 3 36 0 0 40
POLD1 0 0 39 0 0 39
PTCH2 0 0 38 1 0 39
MET 0 0 37 0 1 38
MSH2 1 0 34 3 0 38
MSH3 1 3 34 0 0 38
ATM, C11orf65 6 1 29 0 0 36
MUTYH 6 2 28 0 0 36
SAMD9 0 0 35 0 0 35
BRCA1 6 2 23 3 0 34
LZTR1 2 3 29 0 0 34
NYNRIN 0 0 33 0 0 33
SOS1 0 0 30 2 1 33
CHEK2 6 6 19 1 0 32
AXIN2 0 0 31 0 0 31
MLH1 2 0 27 1 1 31
SMARCA4 2 2 24 2 0 30
PMS2 7 1 21 1 0 29
BARD1 1 2 25 0 0 28
EXT2 0 2 26 0 0 28
PALB2 3 0 25 0 0 28
NTHL1 1 1 24 1 0 27
PTCH1 1 0 25 0 0 26
BUB1B 2 4 19 0 0 25
DDX41 1 4 18 0 0 23
NBN 2 1 17 3 0 23
TSC1 1 0 22 0 0 23
AOPEP, FANCC 0 3 18 0 0 21
CDH1 0 0 15 3 3 21
DIS3L2 1 1 18 1 0 21
SDHA 4 1 16 0 0 21
TP53 13 4 1 1 2 21
FANCG 1 4 15 0 0 20
FLCN 2 1 17 0 0 20
FANCA, ZNF276 1 1 17 0 0 19
KIT 1 0 18 0 0 19
MITF 1 0 18 0 0 19
PDGFRA 0 0 18 1 0 19
POT1 2 3 14 0 0 19
TERT 0 0 18 1 0 19
FH 2 3 13 0 0 18
TRIM28 2 1 15 0 0 18
CEBPA 1 1 14 1 0 17
EXT1 1 0 16 0 0 17
GATA2 5 0 11 0 0 16
BAP1 0 1 14 0 0 15
CBL 0 2 13 0 0 15
SOS2 0 0 15 0 0 15
CDKN2A 1 1 12 0 0 14
CTR9 0 0 14 0 0 14
EPCAM 1 0 12 1 0 14
REST 0 0 14 0 0 14
WT1 7 1 6 0 0 14
AIP 0 0 12 1 0 13
GPR161 0 0 13 0 0 13
IKZF1 0 0 13 0 0 13
LOC107982234, WT1 0 1 10 0 0 11
NF2 2 0 9 0 0 11
RUNX1 0 0 11 0 0 11
STK11 0 0 11 0 0 11
BMPR1A 0 0 10 0 0 10
BUB1B, BUB1B-PAK6 0 0 10 0 0 10
RAD51C 2 0 8 0 0 10
RRAS 0 0 10 0 0 10
SUFU 1 1 8 0 0 10
TRIM37 0 0 10 0 0 10
CDKN1B 0 0 9 0 0 9
ETV6 2 1 5 0 1 9
FBXW7 0 0 9 0 0 9
LOC100507346, PTCH1 2 0 6 1 0 9
VPS13B 1 0 8 0 0 9
MAP2K2 0 0 8 0 0 8
MEN1 0 1 7 0 0 8
PAX5 0 1 6 1 0 8
PTPN11 2 1 4 0 1 8
RAF1 0 0 7 0 1 8
SLX4 0 1 7 0 0 8
SMARCB1 3 0 5 0 0 8
BRAF 0 0 6 1 0 7
CDK4, TSPAN31 0 0 7 0 0 7
CDKN1C 0 0 7 0 0 7
FANCC 2 1 3 1 0 7
RAD51D, RAD51L3-RFFL 0 1 6 0 0 7
SDHAF2 0 0 7 0 0 7
SDHB 0 0 7 0 0 7
SHOC2 0 0 7 0 0 7
CTNNA1 0 0 6 0 0 6
DHFR, MSH3 0 0 6 0 0 6
ERCC4, LOC130058543 0 0 6 0 0 6
ERCC6L2 0 0 6 0 0 6
LOC107303340, VHL 2 0 4 0 0 6
SDHD 0 0 6 0 0 6
SMAD4 0 0 6 0 0 6
SMARCE1 1 0 5 0 0 6
TMEM127 0 0 6 0 0 6
FANCM 1 1 3 0 0 5
LOC130001411, RECQL4 0 0 5 0 0 5
LOC130062899, STK11 0 0 5 0 0 5
PRKAR1A 0 0 5 0 0 5
PTEN 1 0 4 0 0 5
SPRED1 0 0 5 0 0 5
AMER1 0 0 4 0 0 4
BRCA1, LOC126862571 1 0 3 0 0 4
CDC73 0 0 4 0 0 4
DHX34 0 0 4 0 0 4
DKC1 0 0 4 0 0 4
EFL1 0 0 4 0 0 4
FANCA, LOC112486223 0 0 4 0 0 4
LOC129934333, TMEM127 0 0 4 0 0 4
LOC130002133, PTCH1 0 0 4 0 0 4
LOC130065239, TRIM28 0 1 3 0 0 4
MAX 0 0 3 1 0 4
MYH9 0 0 4 0 0 4
RIT1 0 0 4 0 0 4
SH2B3 0 0 4 0 0 4
AIP, LOC130006206 0 0 3 0 0 3
ANKRD26, LOC130003554 0 0 3 0 0 3
CDK4 0 0 3 0 0 3
ERCC6 0 0 3 0 0 3
FANCA, LOC130059837 0 0 3 0 0 3
GREM1 0 0 3 0 0 3
HRAS, LRRC56 0 0 3 0 0 3
INSL6, JAK2 0 0 3 0 0 3
KRAS 0 0 3 0 0 3
LOC129933535, SOS1 0 0 3 0 0 3
MPIG6B 0 0 3 0 0 3
MYSM1 0 0 3 0 0 3
PHOX2B 0 0 3 0 0 3
PRF1 0 0 3 0 0 3
RAD50 0 0 3 0 0 3
TCIRG1 0 0 3 0 0 3
VHL 0 0 2 0 1 3
WRAP53 0 0 3 0 0 3
CARD11 0 0 2 0 0 2
CASP10 0 0 2 0 0 2
CDAN1 0 0 2 0 0 2
CDAN1, LOC130056931 0 0 2 0 0 2
CSF3R 0 0 2 0 0 2
CTC1 1 0 1 0 0 2
CTR9, LOC126861140 0 0 2 0 0 2
DPP9, LOC126862842 0 0 2 0 0 2
ELANE 0 0 2 0 0 2
ERCC2 0 2 0 0 0 2
ETV6, LOC126861452 0 0 2 0 0 2
EXT2, LOC126861201 0 0 2 0 0 2
FANCB 0 0 2 0 0 2
FANCD2, FANCD2OS 0 0 2 0 0 2
FANCD2, LOC107303338 0 0 2 0 0 2
FANCI 0 1 1 0 0 2
FANCL 0 0 2 0 0 2
HLTF 0 0 2 0 0 2
JAGN1 0 0 2 0 0 2
LOC105376032, PAX5 0 1 1 0 0 2
LOC110011216, PHOX2B 0 0 2 0 0 2
LOC111811965, MIR4733HG, NF1 0 0 2 0 0 2
LOC129390903, RAD51C 0 1 1 0 0 2
LOC130067016, LZTR1 0 0 2 0 0 2
LRBA 0 0 2 0 0 2
MAP2K1 0 0 2 0 0 2
MECOM 0 1 1 0 0 2
MPL 1 0 1 0 0 2
NAF1 0 0 2 0 0 2
NHP2 0 0 2 0 0 2
PRKCD 0 0 2 0 0 2
RFWD3 0 0 2 0 0 2
SH2D1A 1 0 1 0 0 2
SMC4, TRIM59-IFT80 0 0 2 0 0 2
SRP72 0 0 2 0 0 2
TINF2 1 0 1 0 0 2
​intergenic 1 0 0 0 0 1
ACTN1 0 0 1 0 0 1
ADA2 0 0 1 0 0 1
AP3B1 0 0 1 0 0 1
BRAF, LOC126860202 0 0 1 0 0 1
BUB1B, BUB1B-PAK6, PAK6 0 1 0 0 0 1
CLPB 0 0 1 0 0 1
CREBBP 0 0 0 1 0 1
CTLA4 0 0 1 0 0 1
DPP9 0 0 1 0 0 1
DPP9, LOC126862840 0 0 1 0 0 1
FADD 0 0 1 0 0 1
FANCL, VRK2 0 0 1 0 0 1
HAX1 0 0 1 0 0 1
HEATR3 0 0 1 0 0 1
HEATR3, LOC130058980 0 0 1 0 0 1
ITK 0 0 1 0 0 1
ITPR3 0 0 1 0 0 1
JAK3 0 0 1 0 0 1
KIF1B, LOC126805614 0 0 1 0 0 1
KIF1B, LOC129388446 0 0 1 0 0 1
LIG4 0 1 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LOC126807054, PDGFRA 0 0 1 0 0 1
LOC126860438, NBN 0 0 1 0 0 1
LOC126862157, RPL4 0 0 1 0 0 1
LOC126862606, TRIM37 0 0 1 0 0 1
LOC129929542, SDHB 1 0 0 0 0 1
LOC129992625, SRP72 0 0 1 0 0 1
LOC129999303, SMO 0 0 1 0 0 1
LOC130003710, RET 0 0 1 0 0 1
LOC130004614, SUFU 0 0 1 0 0 1
LOC130005368, RRAS2 0 0 1 0 0 1
LOC130055850, MAX 0 0 1 0 0 1
LOC130059131, USB1 0 0 1 0 0 1
LOC130063193, MAP2K2 0 0 1 0 0 1
LOC130067183, LOC130067184, NF2 1 0 0 0 0 1
LYST 0 0 1 0 0 1
MAP2K1, SNAPC5 0 0 0 0 1 1
MDM4 0 0 1 0 0 1
MRAS 0 0 1 0 0 1
NPM1 0 0 1 0 0 1
NRAS 0 0 1 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
PARN 0 0 1 0 0 1
PIK3CD 0 0 1 0 0 1
PPP1CB 0 0 1 0 0 1
RAD51 0 0 1 0 0 1
RPL8 0 0 1 0 0 1
RPS20 0 0 1 0 0 1
RPS24 0 0 1 0 0 1
RRAS2 0 0 1 0 0 1
SDHC 0 0 1 0 0 1
SLC37A4 0 0 1 0 0 1
STAT3 0 0 1 0 0 1
STAT5B 0 0 1 0 0 1
STN1 0 0 1 0 0 1
TERC 0 0 1 0 0 1
TET2 0 0 1 0 0 1
TNFRSF13B 0 0 1 0 0 1
TUBB1 0 0 1 0 0 1
WAS 0 0 1 0 0 1
WIPF1 0 0 1 0 0 1
WRN 0 1 0 0 0 1
XRCC2 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 269
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 7 7 106 0 0 120
Colorectal cancer, susceptibility to, 12 0 1 95 0 0 96
Rothmund-Thomson syndrome type 2 6 1 88 0 0 95
Fanconi anemia complementation group A 8 3 78 0 0 89
Familial adenomatous polyposis 1 2 0 76 3 1 82
Medulloblastoma 6 4 59 0 0 69
Retinoblastoma 39 5 25 0 0 69
Breast-ovarian cancer, familial, susceptibility to, 2 10 0 56 0 0 66
Ataxia-telangiectasia syndrome 6 0 55 2 0 63
Thrombocytopenia 2 0 0 61 0 0 61
Predisposition to Wilms tumor 2 2 54 0 0 58
Bloom syndrome 6 2 49 0 0 57
Neurofibromatosis, type 1 16 3 37 0 1 57
Tuberous sclerosis 2 0 0 46 0 0 46
Lynch syndrome 5 2 2 40 1 0 45
Basal cell nevus syndrome 1 2 0 41 1 0 44
Familial adenomatous polyposis 4 1 3 40 0 0 44
Hereditary breast ovarian cancer syndrome 5 1 28 8 1 43
Neuroblastoma, susceptibility to, 3 1 0 42 0 0 43
Colorectal cancer, susceptibility to, 10 0 0 39 0 0 39
Multiple endocrine neoplasia type 2A 1 0 37 1 0 39
Noonan syndrome 0 0 31 3 4 38
Papillary renal cell carcinoma type 1 0 0 36 0 1 37
Xeroderma pigmentosum, group F 1 1 35 0 0 37
Ataxia-pancytopenia syndrome 1 2 33 0 0 36
Gorlin syndrome 1 0 33 1 0 35
Noonan syndrome 10 2 3 30 0 0 35
Pheochromocytoma 0 0 34 1 0 35
Familial adenomatous polyposis 2 5 2 26 0 0 33
Wilms tumor 1 7 1 25 0 0 33
Predisposition to cancer 6 6 19 1 0 32
Lynch syndrome 1 0 26 3 1 31
Mosaic variegated aneuploidy syndrome 1 2 4 25 0 0 31
Oligodontia-cancer predisposition syndrome 0 0 31 0 0 31
Rhabdoid tumor predisposition syndrome 2 2 1 26 2 0 31
Breast-ovarian cancer, familial, susceptibility to, 1 6 2 21 0 0 29
Colorectal cancer, hereditary nonpolyposis, type 2 2 0 26 1 0 29
Familial adenomatous polyposis 3 2 1 24 1 0 28
Noonan syndrome 4 0 0 28 0 0 28
Hereditary diffuse gastric adenocarcinoma 0 0 21 3 3 27
Lynch syndrome 1 0 0 25 1 0 26
Pleuropulmonary blastoma 6 0 19 1 0 26
Exostoses, multiple, type 2 0 2 23 0 0 25
Fanconi anemia complementation group C 2 4 18 1 0 25
Lynch syndrome 4 6 0 18 0 0 24
Microcephaly, normal intelligence and immunodeficiency 2 1 18 3 0 24
Neuroblastoma, susceptibility to, 1 0 0 24 0 0 24
DDX41-related hematologic malignancy predisposition syndrome 1 4 18 0 0 23
Fanconi anemia 1 0 22 0 0 23
Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 23 0 0 23
Perlman syndrome 1 1 18 1 0 21
Acute myeloid leukemia 1 1 17 1 0 20
Gastrointestinal stromal tumor 0 0 18 1 0 19
Melanoma, cutaneous malignant, susceptibility to, 8 1 0 18 0 0 19
Pheochromocytoma/paraganglioma syndrome 5 3 1 15 0 0 19
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 0 19 0 0 19
Tumor predisposition syndrome 3 2 3 14 0 0 19
Familial isolated pituitary adenoma 0 0 16 2 0 18
Fanconi anemia complementation group G 1 4 13 0 0 18
Fanconi anemia complementation group Q 1 1 15 1 0 18
Dyskeratosis congenita, autosomal dominant 2 0 0 17 0 0 17
Fanconi anemia complementation group J 1 0 16 0 0 17
Li-Fraumeni syndrome 1 12 4 1 0 0 17
Exostoses, multiple, type 1 1 0 15 0 0 16
Tuberous sclerosis 1 1 0 15 0 0 16
Hereditary leiomyomatosis and renal cell cancer 0 3 12 0 0 15
Noonan syndrome 9 0 0 15 0 0 15
DICER1-related tumor predisposition 2 0 9 2 1 14
Wilms tumor 6 0 0 14 0 0 14
CBL-related disorder 0 1 12 0 0 13
Lynch syndrome 8 0 0 12 1 0 13
Peutz-Jeghers syndrome 0 0 13 0 0 13
Acute lymphoid leukemia 0 0 12 0 0 12
BAP1-related tumor predisposition syndrome 0 0 12 0 0 12
Breast-ovarian cancer, familial, susceptibility to, 3 2 1 9 0 0 12
Melanoma-pancreatic cancer syndrome 1 1 10 0 0 12
Neurofibromatosis, type 2 3 0 9 0 0 12
Tuberous sclerosis syndrome 0 0 10 2 0 12
Birt-Hogg-Dube syndrome 1 0 10 0 0 11
Juvenile polyposis syndrome 0 0 11 0 0 11
MIRAGE syndrome 0 0 11 0 0 11
Mulibrey nanism syndrome 0 0 11 0 0 11
Somatotroph adenoma 0 0 11 0 0 11
Thrombocytopenia 5 2 1 7 0 1 11
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 10 0 0 10
Leukemia, acute lymphoblastic, susceptibility to, 3 0 2 7 1 0 10
Birt-Hogg-Dube syndrome 1 2 0 7 0 0 9
Cohen syndrome 1 0 8 0 0 9
Developmental delay, hypotonia, and impaired language 0 0 9 0 0 9
GATA2 deficiency with susceptibility to MDS/AML 3 0 6 0 0 9
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 9 0 0 9
Multiple endocrine neoplasia type 4 0 0 9 0 0 9
Craniopharyngioma 1 1 6 0 0 8
Hereditary pheochromocytoma and paraganglioma 1 0 7 0 0 8
Von Hippel-Lindau syndrome 1 0 6 0 1 8
Beckwith-Wiedemann syndrome 0 0 7 0 0 7
Breast-ovarian cancer, familial, susceptibility to, 4 0 1 6 0 0 7
Cardiofaciocutaneous syndrome 4 0 0 7 0 0 7
Multiple endocrine neoplasia, type 1 0 1 6 0 0 7
Pheochromocytoma/paraganglioma syndrome 2 0 0 7 0 0 7
Coffin-Siris syndrome 5 1 0 5 0 0 6
Fanconi anemia complementation group P 0 0 6 0 0 6
Monosomy 7 myelodysplasia and leukemia syndrome 1 0 1 5 0 0 6
Multiple congenital exostosis 0 0 6 0 0 6
Multiple endocrine neoplasia, type 2 0 0 5 1 0 6
Noonan syndrome 7 0 0 6 0 0 6
Noonan syndrome-like disorder with loose anagen hair 1 0 0 6 0 0 6
Pancytopenia-developmental delay syndrome 0 0 6 0 0 6
Rhabdoid tumor predisposition syndrome 1 3 0 3 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 5 0 0 5
Carney complex, type 1 0 0 5 0 0 5
Legius syndrome 0 0 5 0 0 5
Mosaic variegated aneuploidy syndrome 0 1 4 0 0 5
Myelodysplastic syndrome 2 0 3 0 0 5
Neuroblastoma 0 1 4 0 0 5
Pilocytic astrocytoma 2 1 2 0 0 5
Anemia, congenital dyserythropoietic, type 1a 0 0 4 0 0 4
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 4 0 0 4
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 1 0 3 0 0 4
Cowden syndrome 1 1 0 3 0 0 4
Dyskeratosis congenita 1 0 2 1 0 4
Dyskeratosis congenita, X-linked 0 0 4 0 0 4
Fanconi anemia complementation group D2 0 0 4 0 0 4
Hatipoglu immunodeficiency syndrome 0 0 4 0 0 4
Hyperparathyroidism 2 with jaw tumors 0 0 4 0 0 4
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 4 0 0 4
Neuroblastoma, susceptibility to, 2 0 0 4 0 0 4
Neutropenia, severe congenital, 1, autosomal dominant 0 0 4 0 0 4
Noonan syndrome 8 0 0 4 0 0 4
Osteopathia striata with cranial sclerosis 0 0 4 0 0 4
Pheochromocytoma/paraganglioma syndrome 1 0 0 4 0 0 4
Pheochromocytoma/paraganglioma syndrome 4 0 0 4 0 0 4
Precursor B-cell acute lymphoblastic leukemia 2 2 0 0 0 4
Shwachman-Diamond syndrome 2 0 0 4 0 0 4
Thrombocytosis 0 0 4 0 0 4
Autosomal dominant aplasia and myelodysplasia 0 0 3 0 0 3
Bone marrow failure syndrome 0 0 3 0 0 3
Bone marrow failure syndrome 4 0 0 3 0 0 3
Costello syndrome 0 0 3 0 0 3
Diamond-Blackfan anemia 0 0 3 0 0 3
Diffuse intrinsic pontine glioma 1 1 1 0 0 3
Dyskeratosis congenita, autosomal recessive 3 0 0 3 0 0 3
Familial hemophagocytic lymphohistiocytosis 2 0 0 3 0 0 3
Fanconi anemia complementation group L 0 0 3 0 0 3
Generalized juvenile polyposis/juvenile polyposis coli 0 0 3 0 0 3
Li-Fraumeni syndrome 0 0 0 1 2 3
Nijmegen breakage syndrome-like disorder 0 0 3 0 0 3
Noonan syndrome 1 1 1 1 0 0 3
Noonan syndrome 5 0 0 3 0 0 3
Predisposition to thrombocytopenia 0 0 3 0 0 3
Thrombocythemia 2 1 0 2 0 0 3
Thrombocythemia 3 0 0 3 0 0 3
Wilms Tumor Predisposition 0 0 3 0 0 3
Anaplastic ependymoma 0 0 2 0 0 2
Autoimmune lymphoproliferative syndrome type 2A 0 0 2 0 0 2
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 0 0 2 0 0 2
Autosomal recessive osteopetrosis 1 0 0 2 0 0 2
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 0 2 0 0 2
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 0 0 2 0 0 2
Baller-Gerold syndrome 0 0 2 0 0 2
Cardiofaciocutaneous syndrome 3 0 0 2 0 0 2
Cockayne syndrome 0 0 2 0 0 2
Combined immunodeficiency due to LRBA deficiency 0 0 2 0 0 2
Congenital fibrosarcoma 1 1 0 0 0 2
Diamond-Blackfan anemia 21 0 0 2 0 0 2
Dyskeratosis congenita, autosomal dominant 3 1 0 1 0 0 2
Dyskeratosis congenita, autosomal recessive 2 0 0 2 0 0 2
Ewing sarcoma 0 1 1 0 0 2
Familial melanoma 0 0 2 0 0 2
Familial myelodysplastic syndrome 0 0 2 0 0 2
Fanconi anemia complementation group B 0 0 2 0 0 2
Fanconi anemia complementation group I 0 1 1 0 0 2
Fanconi anemia, complementation group W 0 0 2 0 0 2
Glioblastoma 1 1 0 0 0 2
Hereditary mixed polyposis syndrome 0 0 2 0 0 2
Malignant germ cell tumor of ovary 1 1 0 0 0 2
Nephroblastoma 0 0 2 0 0 2
Optic nerve glioma 2 0 0 0 0 2
Papillary thyroid carcinoma 0 1 1 0 0 2
Polyposis syndrome, hereditary mixed, 1 0 0 2 0 0 2
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 0 0 2 0 0 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 1 1 0 0 2
Severe combined immunodeficiency due to CARD11 deficiency 0 0 2 0 0 2
Thrombocytopenia, anemia, and myelofibrosis 0 0 2 0 0 2
X-linked lymphoproliferative disease due to SH2D1A deficiency 1 0 1 0 0 2
Acute leukemia of ambiguous lineage 1 0 0 0 0 1
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 1 0 0 1
Acute promyelocytic leukemia 0 0 1 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 1 0 0 0 0 1
Atypical teratoid rhabdoid tumor 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 0 1 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 0 0 1 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 1 0 0 0 0 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 1
B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 1
B-lymphoblastic leukemia/lymphoma with hypodiploidy 0 0 1 0 0 1
Basal cell nevus syndrome 2 0 0 1 0 0 1
Bone marrow failure syndrome 6 0 0 1 0 0 1
Burkitt lymphoma; Lymphoma 1 0 0 0 0 1
Cardio-facio-cutaneous syndrome 0 0 1 0 0 1
Cerebroretinal microangiopathy with calcifications and cysts 2 0 0 1 0 0 1
Chédiak-Higashi syndrome 0 0 1 0 0 1
Cockayne syndrome type 2 0 0 1 0 0 1
Congenital diarrhea 5 with tufting enteropathy 1 0 0 0 0 1
DHX34-associated thromobocytopenia 0 0 1 0 0 1
Deficiency of adenosine deaminase 2 0 0 1 0 0 1
Desmoid tumor 1 0 0 0 0 1
Diamond-Blackfan anemia 3 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant 1 0 0 1 0 0 1
Dyskeratosis congenita, autosomal recessive 6 0 0 1 0 0 1
Embryonal rhabdomyosarcoma 0 0 1 0 0 1
Ependymoma 0 0 1 0 0 1
Ewing sarcoma of soft tissue 0 0 1 0 0 1
FADD-related immunodeficiency 0 0 1 0 0 1
Familial multiple polyposis syndrome 0 0 1 0 0 1
Fanconi anemia complementation group N 0 0 1 0 0 1
Fanconi anemia complementation group U 0 0 1 0 0 1
Fumarase deficiency 1 0 0 0 0 1
Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 1 0 0 0 0 1
Ganglioglioma 0 0 1 0 0 1
Gastric adenocarcinoma and proximal polyposis of the stomach 0 0 1 0 0 1
Germinoma 0 0 1 0 0 1
Glioblastoma multiforme 0 1 0 0 0 1
Glucose-6-phosphate transport defect 0 0 1 0 0 1
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0 0 1 0 0 1
Hepatoblastoma 0 0 1 0 0 1
Hereditary papillary renal cell carcinoma 0 0 1 0 0 1
Hermansky-Pudlak syndrome 2 0 0 1 0 0 1
High grade surface osteosarcoma 1 0 0 0 0 1
Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy 0 0 1 0 0 1
Immunodeficiency 14 0 0 1 0 0 1
Immunodeficiency 75 0 0 1 0 0 1
Immunodeficiency, common variable, 2 0 0 1 0 0 1
Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia 0 0 1 0 0 1
Kostmann syndrome 0 0 1 0 0 1
LZTR1-related schwannomatosis 0 0 1 0 0 1
Lymphoma; B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 1
Lymphoproliferative syndrome 1 0 0 1 0 0 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 0 1 0 0 1
Malignant fibrous histiocytoma 0 1 0 0 0 1
Malignant glioma 1 0 0 0 0 1
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified 0 1 0 0 0 1
Mixed phenotype acute leukemia with t(v;11q23.3) 0 0 1 0 0 1
Neutropenia, severe congenital, 9, autosomal dominant 0 0 1 0 0 1
Noonan syndrome 11 0 0 1 0 0 1
Noonan syndrome 3 0 0 1 0 0 1
Noonan syndrome 6 0 0 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 0 0 1 0 0 1
Osteoblastic osteosarcoma 0 0 1 0 0 1
PTEN hamartoma tumor syndrome 0 0 1 0 0 1
Pancytopenia due to IKZF1 mutations 0 0 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 3 0 0 1 0 0 1
Pituitary carcinoma 0 1 0 0 0 1
Platelet-type bleeding disorder 15 0 0 1 0 0 1
Poikiloderma with neutropenia 0 0 1 0 0 1
Predisposition to medulloblastoma 0 0 1 0 0 1
Predisposition to myelodysplastic syndrome 0 0 1 0 0 1
Predisposition to neuroblastoma 0 0 1 0 0 1
Primitive neuroectodermal tumor 0 0 1 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 1
Rothmund-Thomson syndrome 0 0 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 0 1 0 1
STAT3-related early-onset multisystem autoimmune disease 0 0 1 0 0 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 1 0 0 1
Uveal melanoma 0 0 1 0 0 1
Wiskott-Aldrich syndrome 0 0 1 0 0 1
Wiskott-Aldrich syndrome 2 0 0 1 0 0 1
Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q 0 0 1 0 0 1
not specified 0 0 1 0 0 1

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