ClinVar Miner

Variants from Clinical Genomics Lab,St. Jude Children's Research Hospital

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
31 16 180 0 0 227

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
APC 2 0 14 16
BRCA2 1 0 15 16
RB1 9 0 4 13
MSH2 1 0 10 11
MSH6 0 0 10 10
NF1 3 1 6 10
ALK 0 0 9 9
PTCH1 0 0 8 8
TSC2 0 0 8 8
DICER1 0 0 7 7
CDH1 0 0 6 6
PALB2 1 0 5 6
PMS2 2 1 3 6
RET 0 0 6 6
SOS1 0 0 5 5
STK11 0 0 5 5
TSC1 0 0 5 5
BRCA1 0 0 4 4
PTPN11 1 0 3 4
RAF1 0 0 4 4
BAP1 0 1 2 3
LOC100507346, PTCH1 1 0 2 3
MAP2K2 0 0 3 3
RUNX1 0 0 3 3
TMEM127 0 0 3 3
ATM, C11orf65 1 1 0 2
BMPR1A 0 0 2 2
CBL 0 1 1 2
CDKN2A 0 0 2 2
CEBPA 0 0 2 2
ERCC2 0 2 0 2
FANCM 1 1 0 2
LOC107982234, WT1 0 1 1 2
MUTYH 1 0 1 2
PAX5 0 0 2 2
RECQL4 1 1 0 2
SDHA 1 0 1 2
SMARCA4 0 1 1 2
SUFU 0 0 2 2
TP53 1 0 1 2
BRAF 0 0 1 1
BRIP1 0 1 0 1
CDK4 0 0 1 1
CDK4, TSPAN31 0 0 1 1
CHEK2 1 0 0 1
EPCAM 0 0 1 1
ERCC4 1 0 0 1
FH 0 0 1 1
FLCN 0 1 0 1
KIT 1 0 0 1
KRAS 0 0 1 1
LIG4 0 1 0 1
LOC107303340, VHL 1 0 0 1
MAX 0 0 1 1
MEN1 0 0 1 1
MLH1 0 0 1 1
PHOX2B 0 0 1 1
SHOC2 0 0 1 1
SLX4 0 1 0 1
SMAD4 0 0 1 1
VHL 0 0 1 1
WRN 0 1 0 1
WT1 0 0 1 1

Condition and significance breakdown #

Total conditions: 66
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Condition pathogenic likely pathogenic uncertain significance total
Retinoblastoma 9 1 18 28
Craniopharyngioma 1 1 17 19
Neuroblastoma 0 1 11 12
Acute myeloid leukemia 0 0 11 11
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 1 0 10 11
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 10 10
Pilocytic astrocytoma 2 1 6 9
Medulloblastoma 1 1 6 8
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 1 0 5 6
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 1 0 5 6
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 5 5
Ganglioneuroblastoma 0 0 5 5
Hepatoblastoma 0 0 5 5
Papillary thyroid carcinoma 0 1 4 5
Acute megakaryoblastic leukemia 0 0 4 4
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 4 4
Diffuse intrinsic pontine glioma 2 1 1 4
Pre-B-cell acute lymphoblastic leukemia 2 2 0 4
T Lymphoblastic Leukemia/Lymphoma 0 0 4 4
Wilms Tumor 0 0 4 4
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 0 0 3 3
B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 0 0 3 3
Ependymoma 0 0 3 3
Ewing sarcoma of soft tissue 0 0 3 3
Germinoma 0 0 3 3
Large Cell/Anaplastic Medulloblastoma 0 0 3 3
Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged 0 0 3 3
Anaplastic ependymoma 0 0 2 2
Atypical teratoid rhabdoid tumor 0 0 2 2
Burkitt lymphoma; Lymphoma 2 0 0 2
Ewing's sarcoma 0 1 1 2
Glioblastoma 1 1 0 2
High Grade Surface Osteosarcoma 1 0 1 2
Malignant germ cell tumor of ovary 1 1 0 2
Optic nerve glioma 2 0 0 2
Osteoblastic Osteosarcoma 0 0 2 2
Papillary renal cell carcinoma 0 0 2 2
Pituitary carcinoma 0 1 1 2
Acute leukemia of ambiguous lineage 1 0 0 1
Acute lymphoid leukemia; Glioblastoma 1 0 0 1
Acute promyelocytic leukemia 0 0 1 1
Alveolar rhabdomyosarcoma; Sarcoma 0 0 1 1
Astrocytoma 0 0 1 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 1 0 0 1
B Lymphoblastic Leukemia/Lymphoma 0 0 1 1
B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 1
Chordoma 0 0 1 1
Desmoid tumors 1 0 0 1
Diffuse astrocytoma 0 0 1 1
Embryonal rhabdomyosarcoma 0 0 1 1
Embryonal rhabdomyosarcoma; Ectomesenchymoma 0 0 1 1
Ganglioglioma 0 0 1 1
Glioblastoma multiforme 0 1 0 1
Low Grade Fibromyxoid Sarcoma 0 0 1 1
Low Grade Glioma 0 0 1 1
Low Grade Glioma; Childhood Visual Pathway Glioma 0 0 1 1
Lymphoma; B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 1
Malignant Glioma 1 0 0 1
Medulloblastoma, desmoplastic 0 0 1 1
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified 0 1 0 1
Myelodysplastic Syndrome with Single Lineage Dysplasia 0 0 1 1
Myeloid Leukemia Associated with Down Syndrome 0 0 1 1
Neuroepithelial neoplasm; malignant granular cell tumor 0 0 1 1
Primitive neuroectodermal tumor 0 0 1 1
Undifferentiated Pleomorphic Sarcoma 0 1 0 1
Uveal melanoma 0 0 1 1

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