ClinVar Miner

Variants from Molecular Pathology, Peter Maccallum Cancer Centre

Location: Australia  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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
524 178 853 148 14 1717

Gene and significance breakdown #

Total genes and gene combinations: 88
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 99 8 30 41 4 182
MSH6 33 9 70 6 0 118
PALB2 29 4 52 8 0 93
BRCA1 52 7 13 12 5 89
ATM 26 4 45 8 0 83
BRIP1 5 10 62 4 0 81
APC 25 3 37 9 2 76
PMS2 8 5 55 4 0 72
MSH2 20 3 32 13 1 69
MLH1 22 7 30 2 0 61
CHEK2 12 9 38 1 0 60
BARD1 9 5 42 0 0 56
ATM, C11orf65 19 3 27 0 0 49
NF1 28 3 9 1 0 41
RAD51C 2 7 28 3 0 40
RAD51D, RAD51L3-RFFL 5 4 24 1 0 34
TP53 8 10 11 1 0 30
FH 6 5 12 0 0 23
DDX41 7 10 5 0 0 22
MUTYH 6 3 13 0 0 22
POLE 0 0 14 5 0 19
STK11 2 0 14 2 0 18
RET 11 0 4 2 0 17
SDHA 4 3 9 1 0 17
CDH1 5 0 8 3 0 16
TSC2 7 0 8 1 0 16
AXIN2 2 1 9 2 0 14
BAP1 4 4 5 1 0 14
MEN1 3 8 3 0 0 14
POLD1 0 0 13 1 0 14
TSC1 5 2 7 0 0 14
BUB1B 0 0 13 0 0 13
NTHL1 1 1 11 0 0 13
PTEN 6 4 3 0 0 13
SDHB 7 5 1 0 0 13
CDKN2A 1 4 7 0 0 12
BRCA1, LOC126862571 4 0 1 4 2 11
BMPR1A 1 2 7 0 0 10
FLCN 5 2 2 1 0 10
SDHC 0 5 5 0 0 10
LOC107303340, VHL 3 3 3 0 0 9
RB1 3 0 4 2 0 9
MET 0 1 7 0 0 8
DICER1 5 1 1 0 0 7
SMAD4 1 0 4 2 0 7
HOXB13 0 0 6 0 0 6
POT1 0 2 4 0 0 6
SDHD 5 0 1 0 0 6
VHL 1 1 3 0 0 5
GREM1 0 0 4 0 0 4
LOC111811965, MIR4733HG, NF1 3 1 0 0 0 4
LZTR1 3 0 1 0 0 4
PTCH1 1 2 1 0 0 4
AIP 1 0 1 1 0 3
CDK4, TSPAN31 0 0 2 1 0 3
EXT2 2 0 1 0 0 3
GATA2 0 0 3 0 0 3
IDH1 0 0 3 0 0 3
NF2 0 1 1 1 0 3
SAMD9 0 3 0 0 0 3
ANKRD26 0 1 1 0 0 2
CDC73 1 0 1 0 0 2
KIF1B 0 0 1 1 0 2
KIT 0 0 2 0 0 2
LOC129390903, RAD51C 0 0 2 0 0 2
LOC130002133, PTCH1 0 0 2 0 0 2
LOC130062899, STK11 0 0 2 0 0 2
PDGFRA 0 0 2 0 0 2
SMARCA4 1 0 1 0 0 2
SMARCB1 2 0 0 0 0 2
AIP, LOC130006206 0 0 1 0 0 1
CDK4 0 0 1 0 0 1
CDKN1B 0 0 0 1 0 1
CDKN2A, LOC130001603 0 0 1 0 0 1
EPCAM 0 0 0 1 0 1
ETV6 1 0 0 0 0 1
EXT1 0 0 1 0 0 1
LOC106736614, RET 0 1 0 0 0 1
LOC129933707, MSH6 0 0 1 0 0 1
LOC130009266, POLE 0 0 1 0 0 1
MAX 0 1 0 0 0 1
MDH2 0 0 1 0 0 1
PKD1, TSC2 1 0 0 0 0 1
PRKAR1A 1 0 0 0 0 1
RNF43 0 0 1 0 0 1
RUNX1 0 0 1 0 0 1
SAMD9L 0 0 1 0 0 1
TMEM127 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 61
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Breast-ovarian cancer, familial, susceptibility to, 2 99 8 30 41 4 182
Familial ovarian cancer 12 21 116 8 0 157
Familial cancer of breast 41 13 90 9 0 153
Ataxia-telangiectasia syndrome 45 7 72 8 0 132
Lynch syndrome 5 33 9 71 6 0 119
Breast-ovarian cancer, familial, susceptibility to, 1 56 7 14 16 7 100
Familial adenomatous polyposis 1 25 3 37 9 2 76
Lynch syndrome 4 8 5 55 4 0 72
Lynch syndrome 1 20 3 32 13 1 69
Colorectal cancer, hereditary nonpolyposis, type 2 22 7 30 2 0 61
BARD1-related cancer predisposition 9 5 42 0 0 56
Neurofibromatosis, type 1 31 4 9 1 0 45
Colorectal cancer, susceptibility to, 10 0 0 28 6 0 34
Li-Fraumeni syndrome 8 10 11 1 0 30
Hereditary leiomyomatosis and renal cell cancer 6 5 12 0 0 23
DDX41-related hematologic malignancy predisposition syndrome 7 10 5 0 0 22
Familial adenomatous polyposis 2 6 3 13 0 0 22
Peutz-Jeghers syndrome 2 0 16 2 0 20
Multiple endocrine neoplasia, type 2 11 1 4 2 0 18
Pheochromocytoma/paraganglioma syndrome 5 4 3 9 1 0 17
Tuberous sclerosis 2 8 0 8 1 0 17
Hereditary cancer-predisposing syndrome 4 4 8 0 0 16
Hereditary diffuse gastric adenocarcinoma 5 0 8 3 0 16
BAP1-related tumor predisposition syndrome 4 4 5 1 0 14
Multiple endocrine neoplasia, type 1 3 8 3 0 0 14
Oligodontia-cancer predisposition syndrome 2 1 9 2 0 14
Tuberous sclerosis 1 5 2 7 0 0 14
Von Hippel-Lindau syndrome 4 4 6 0 0 14
Familial adenomatous polyposis 3 1 1 11 0 0 13
Melanoma-pancreatic cancer syndrome 1 4 8 0 0 13
Mosaic variegated aneuploidy syndrome 1 0 0 13 0 0 13
PTEN hamartoma tumor syndrome 6 4 3 0 0 13
Pheochromocytoma/paraganglioma syndrome 4 7 5 1 0 0 13
Birt-Hogg-Dube syndrome 1 5 2 2 1 0 10
Generalized juvenile polyposis/juvenile polyposis coli 1 2 7 0 0 10
Pheochromocytoma/paraganglioma syndrome 3 0 5 5 0 0 10
Retinoblastoma 3 0 4 2 0 9
Hereditary papillary renal cell carcinoma 0 1 7 0 0 8
DICER1-related tumor predisposition 5 1 1 0 0 7
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 4 2 0 7
Gorlin syndrome 1 2 3 0 0 6
Pheochromocytoma/paraganglioma syndrome 1 5 0 1 0 0 6
Prostate cancer, hereditary, 9 0 0 6 0 0 6
Tumor predisposition syndrome 3 0 2 4 0 0 6
Familial isolated pituitary adenoma 1 0 2 1 0 4
Hereditary mixed polyposis syndrome 0 0 4 0 0 4
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 3 1 0 4
Exostoses, multiple, type 2 2 0 1 0 0 3
GATA2 deficiency with susceptibility to MDS/AML 0 0 3 0 0 3
Glioma susceptibility 1 0 0 3 0 0 3
Neurofibromatosis, type 2 0 1 1 1 0 3
Pheochromocytoma 0 0 1 2 0 3
Hereditary pheochromocytoma and paraganglioma 0 1 1 0 0 2
Hyperparathyroidism 2 with jaw tumors 1 0 1 0 0 2
Rhabdoid tumor predisposition syndrome 1 2 0 0 0 0 2
Rhabdoid tumor predisposition syndrome 2 1 0 1 0 0 2
Carney complex, type 1 1 0 0 0 0 1
Exostoses, multiple, type 1 0 0 1 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 1 0 0 1
Lynch syndrome 8 0 0 0 1 0 1
Multiple endocrine neoplasia type 4 0 0 0 1 0 1

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