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 |
association |
risk factor |
not provided |
total |
334
|
62
|
320
|
137
|
74
|
3
|
1
|
11
|
934
|
Gene and significance breakdown #
Total genes and gene combinations: 124
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
APC
|
86
|
2
|
57
|
26
|
23
|
0 |
1
|
0 |
193
|
MSH6
|
44
|
6
|
32
|
28
|
10
|
0 |
0 |
0 |
120
|
MSH2
|
53
|
7
|
27
|
9
|
9
|
0 |
0 |
0 |
105
|
MLH1
|
53
|
13
|
15
|
8
|
4
|
0 |
0 |
0 |
93
|
MUTYH
|
19
|
4
|
16
|
8
|
4
|
0 |
0 |
0 |
48
|
POLE
|
2
|
0 |
12
|
16
|
7
|
0 |
0 |
0 |
37
|
POLD1
|
0 |
0 |
8
|
13
|
11
|
0 |
0 |
1
|
33
|
PALB2
|
1
|
1
|
23
|
2
|
0 |
0 |
0 |
0 |
27
|
PMS2
|
12
|
2
|
8
|
4
|
1
|
0 |
0 |
0 |
27
|
KDR
|
0 |
0 |
14
|
0 |
0 |
0 |
0 |
0 |
14
|
FLT4, LOC126807632
|
0 |
0 |
13
|
0 |
0 |
0 |
0 |
0 |
13
|
ATM
|
2
|
1
|
2
|
4
|
2
|
0 |
0 |
0 |
11
|
intergenic
|
0 |
0 |
6
|
0 |
0 |
3
|
0 |
0 |
9
|
FLT4
|
0 |
0 |
8
|
1
|
0 |
0 |
0 |
0 |
9
|
ATM, C11orf65
|
2
|
0 |
3
|
3
|
0 |
0 |
0 |
0 |
8
|
FLT1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
7
|
8
|
BRAF
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
ERBB3
|
5
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
RET
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
0 |
6
|
BRCA2
|
0 |
2
|
2
|
1
|
0 |
0 |
0 |
0 |
5
|
CHEK2
|
1
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
5
|
SYK
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
TP53
|
0 |
1
|
4
|
0 |
0 |
0 |
0 |
0 |
5
|
BMPR1A
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
0 |
4
|
CDH1
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
PIK3CA
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PPARG
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
SMAD4
|
2
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
4
|
STK11
|
0 |
0 |
2
|
2
|
0 |
0 |
0 |
0 |
4
|
BARD1
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
EPCAM
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
FLT1, LOC126861720
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
PTEN
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
AXIN2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BAX
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BRCA1
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
BRIP1
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
0 |
2
|
CFTR
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CTNNB1, LOC126806658
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EP300
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FGFR3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FLCN
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MCC
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PMS1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
PTPRJ
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
RAD51C
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
RHCE
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
A2M, KLRG1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ABCF1, ABHD16A, AIF1, APOM, ATAT1, ATP6V1G2, BAG6, C6orf136, C6orf15, C6orf47, CCHCR1, CDSN, CSNK2B, DDR1, DDX39B, DHX16, FLOT1, GABBR1, GNL1, GPANK1, GPX5, GPX6, GTF2H4, HCG17, HCG22, HCG26, HCP5, HLA-A, HLA-B, HLA-C, HLA-E, HLA-F, HLA-G, IER3, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6D, LY6G6F, MAS1L, MCCD1, MDC1, MICA, MICB, MIR877, MOG, MRPS18B, MUC21, MUC22, MUCL3, NCR3, NFKBIL1, NKAPL, NRM, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2B3, OR2H1, OR2H2, OR2J2, OR2J3, OR2W1, OR5V1, PGBD1, POLR1H, POU5F1, PPP1R10, PPP1R11, PPP1R18, PRR3, PRRC2A, PSORS1C1, PSORS1C2, RNF39, RPP21, SCAND3, SFTA2, TCF19, TNF, TRA-TGC7-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, UBD, VARS2, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF311, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AGAP6, ARHGAP22, ASAH2, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FRMPD2, LRRC18, MAPK8, MSMB, NCOA4, OGDHL, PARG, PGBD3, SGMS1, SLC18A3, TIMM23, TMEM273, VSTM4, WASHC2A, WDFY4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AHNAK
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AKT1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AKT3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AOPEP, FANCC
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AP5Z1, FOXK1, RADIL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
APPBP2, BCAS3, BRIP1, C17orf64, CA4, HEATR6, INTS2, LINC02875, MED13, NACA2, PPM1D, TBX2, TBX4, USP32
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATIC, FN1, LOC122861288, LOC122861289, LOC126806496, LOC126806497, LOC126806498, LOC126806499
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATP6V1C2, NOL10
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BCL10
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BRCA1, LOC126862571
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BRPF3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BUB1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BUB1B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C1orf174, DFFB
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C2CD4B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C4orf46, ETFDH, LOC123493226, PPID, RXFP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CASC15, LOC129995974, LOC129995975
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CCDC102B, TMX3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDH17, GEM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CEP83
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CIITA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CLDN18
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CMC4, FUNDC2, LOC121627986, LOC130068895, MTCP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COL3A1, LOC126806446, MIR3606
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CRISP2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CTXND1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DCC
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DES
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DGCR2, DGCR6, PRODH
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DLC1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAH12
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ETFDH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCE
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FHIT, LOC107325936
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FLG
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FLNA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GALNT11, KMT2C
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GUCA1C, MORC1, TRAT1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HIC2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
INO80D, NDUFS1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
L3MBTL4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LINGO2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC120961747, SLC8A1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC129933707, LOC129933708, MSH6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130009266, POLE
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130062899, STK11
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MLH3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MMD2, RBAK, RBAK-RBAKDN
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MRE11
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MT-ND1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MTX2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MUTYH, TOE1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NBN
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NRAS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OTOGL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PCNT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PDGFRA
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PDGFRL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PKHD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PTPN12
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RAD51D, RAD51L3-RFFL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RAD54B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RAD54L
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
REV3L
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RNF43
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SDK1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SEMA4A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SLC25A13
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SLC29A4, TNRC18, WIPI2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SLC6A6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SWT1, TRMT1L
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TMEM132C
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
XRCC2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
Department of Pathology and Laboratory Medicine, Sinai Health System
|
256
|
33
|
174
|
133
|
73
|
0 |
0 |
0 |
669
|
Clinical Genetics, Erasmus University Medical Center
|
0 |
10
|
45
|
0 |
0 |
0 |
0 |
0 |
55
|
OMIM
|
46
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
46
|
Immunobiology Lab; University of Kashmir
|
0 |
0 |
35
|
0 |
0 |
0 |
0 |
10
|
45
|
3DMed Clinical Laboratory Inc
|
13
|
0 |
18
|
1
|
0 |
0 |
0 |
0 |
32
|
Leiden Open Variation Database
|
0 |
0 |
19
|
0 |
0 |
0 |
0 |
0 |
19
|
Pathway Genomics
|
8
|
1
|
3
|
1
|
1
|
0 |
0 |
0 |
14
|
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
|
10
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
14
|
CSER _CC_NCGL, University of Washington
|
0 |
1
|
7
|
1
|
0 |
0 |
0 |
0 |
9
|
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Klinik und Poliklinik für Kinderchirurgie, Technische Universität Dresden, Universitätsklinikum Carl Gustav Carus
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
5
|
Aleixo Muise Laboratory, Hospital For Sick Children
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Colorectal Cancer Research Lab, Singapore General Hospital
|
0 |
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Database of Curated Mutations (DoCM)
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Wuerzburg
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Cancer Genetics Service, National Cancer Centre Singapore
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The Canberra Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Snyder Lab, Genetics Department, Stanford University
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Department, and Science and Technology Unit, Umm-al-Qura University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
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