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 |
---|---|---|---|---|---|
5 | 190 | 1 | 0 | 0 | 195 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
---|---|---|---|---|
TP53 | 1 | 65 | 0 | 66 |
BRAF | 0 | 20 | 0 | 20 |
NRAS | 0 | 14 | 0 | 14 |
HRAS, LRRC56 | 0 | 13 | 0 | 13 |
B2M | 0 | 5 | 0 | 5 |
IDH1 | 0 | 5 | 0 | 5 |
KRAS | 1 | 4 | 0 | 5 |
CDK4 | 0 | 4 | 0 | 4 |
PTPN11 | 0 | 4 | 0 | 4 |
FGFR3 | 3 | 1 | 0 | 3 |
IDH2 | 0 | 3 | 0 | 3 |
PIK3CA | 0 | 3 | 0 | 3 |
FAT1 | 0 | 2 | 0 | 2 |
KMT2C | 0 | 2 | 0 | 2 |
TET2 | 0 | 2 | 0 | 2 |
ARID4A | 0 | 1 | 0 | 1 |
ATM | 0 | 1 | 0 | 1 |
AURKA | 0 | 1 | 0 | 1 |
BAP1 | 0 | 1 | 0 | 1 |
BARD1 | 0 | 1 | 0 | 1 |
BCORL1 | 0 | 1 | 0 | 1 |
BRCA2 | 0 | 1 | 0 | 1 |
CDKN2C | 0 | 1 | 0 | 1 |
CRBN, TRNT1 | 0 | 1 | 0 | 1 |
CREBBP | 0 | 1 | 0 | 1 |
CYLD | 0 | 1 | 0 | 1 |
DIS3 | 0 | 1 | 0 | 1 |
DNMT3A | 0 | 1 | 0 | 1 |
EIF1AX | 0 | 1 | 0 | 1 |
ERF | 0 | 1 | 0 | 1 |
FLT3 | 0 | 1 | 0 | 1 |
H1-4 | 0 | 1 | 0 | 1 |
H2AC16 | 0 | 1 | 0 | 1 |
H2AC17 | 0 | 1 | 0 | 1 |
H3C1 | 0 | 1 | 0 | 1 |
HDAC4 | 0 | 1 | 0 | 1 |
IL7R | 0 | 1 | 0 | 1 |
KDM5C, LOC130068308 | 0 | 1 | 0 | 1 |
KMT2D | 0 | 1 | 0 | 1 |
LATS1 | 0 | 1 | 0 | 1 |
LIG4 | 0 | 0 | 1 | 1 |
LOC130063979, PIK3R2 | 0 | 1 | 0 | 1 |
MGA | 0 | 1 | 0 | 1 |
MST1R | 0 | 1 | 0 | 1 |
MYD88 | 0 | 1 | 0 | 1 |
NCOR2 | 0 | 1 | 0 | 1 |
NF1 | 0 | 1 | 0 | 1 |
NKX2-1, SFTA3 | 0 | 1 | 0 | 1 |
P2RY8 | 0 | 1 | 0 | 1 |
PIK3R2 | 0 | 1 | 0 | 1 |
RECQL4 | 0 | 1 | 0 | 1 |
RXRA | 0 | 1 | 0 | 1 |
SAMHD1 | 0 | 1 | 0 | 1 |
SGK1 | 0 | 1 | 0 | 1 |
SH2B3 | 0 | 1 | 0 | 1 |
TCF3 | 0 | 1 | 0 | 1 |
TET3 | 0 | 1 | 0 | 1 |
TRAF5 | 0 | 1 | 0 | 1 |
YAP1 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | total |
---|---|---|---|---|
Database of Curated Mutations (DoCM) | 0 | 139 | 0 | 139 |
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center | 1 | 52 | 0 | 53 |
OMIM | 3 | 0 | 0 | 3 |
Biotechnology, Institute of Science, Nirma University | 1 | 1 | 0 | 2 |
Baylor Genetics | 0 | 0 | 1 | 1 |