ClinVar Miner

Variants from Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Location: Denmark  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
1037 1334 3709 5219 1153 12443

Gene and significance breakdown #

Total genes and gene combinations: 741
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 119 17 87 313 162 698
POLE 5 9 232 375 47 667
APC 26 58 132 269 40 525
ATM 23 25 140 211 62 460
POLD1 0 0 119 213 56 388
TP53 122 117 38 69 26 369
BRCA1 59 17 50 153 89 367
MSH6 39 8 124 159 31 361
DICER1 9 5 79 191 31 315
MSH2 14 13 57 168 39 291
MLH1 17 12 45 150 46 270
PMS2 8 12 85 118 27 250
ATM, C11orf65 16 18 82 117 16 249
PALB2 20 10 81 122 15 248
MLH3 0 6 110 96 25 237
CDH1 5 13 57 121 31 227
MSH3 1 9 79 132 4 225
BRIP1 8 8 107 87 10 220
MET 1 0 79 120 20 220
AXIN2 0 1 96 101 12 210
BAP1 6 18 41 117 9 191
CHEK2 9 15 79 77 3 183
PTEN 26 63 24 52 11 176
FLCN 15 3 51 96 8 173
MUTYH 16 9 62 69 8 164
PTCH1 0 4 41 99 17 161
BARD1 6 6 65 69 11 157
STK11 3 9 36 97 6 151
RNF43 0 7 57 63 10 137
POT1 1 6 37 73 7 124
FH 3 1 37 70 12 123
ACD 0 1 42 56 8 107
BMPR1A 0 3 32 61 8 104
SMAD4 4 18 23 48 6 99
NTHL1 2 2 41 45 4 94
RAD51D, RAD51L3-RFFL 7 0 41 40 6 94
CTNNA1 0 4 21 59 9 93
RAD51C 7 3 25 44 7 86
NF1 7 39 9 18 7 79
SDHB 4 5 14 52 4 79
CDKN2A 8 12 24 30 3 77
RET 9 3 23 31 6 72
CASR 9 8 30 18 4 69
BRCA1, LOC126862571 25 1 8 17 16 67
DHFR, MSH3 0 2 10 45 5 62
RB1 9 26 15 11 2 62
SDHC 1 1 13 32 13 60
RPS20 0 0 11 37 9 57
SUFU 0 1 17 29 3 50
TERF2IP 0 1 19 21 3 44
MEN1 7 8 11 14 2 42
ARID1A 2 32 7 0 0 41
ATRX 1 35 5 0 0 41
TINF2 0 2 12 19 8 41
GNA11 1 3 5 28 3 40
EGFR 13 9 15 1 0 38
PIK3CA 16 13 8 1 0 38
LOC107303340, VHL 1 4 11 11 8 35
KMT2D 0 30 3 0 0 33
LOC100507346, PTCH1 1 1 7 20 3 32
VWF 8 9 15 0 0 32
EPCAM 0 0 2 20 6 28
VHL 1 0 9 13 5 28
GREM1 0 0 6 19 2 27
CDC73 1 0 2 17 6 26
LOC110806263, TERT 3 1 12 9 0 25
CDK4 0 0 10 12 2 24
PIEZO1 3 1 17 0 2 23
SDHA 2 3 6 4 8 23
CDK4, TSPAN31 0 0 9 11 2 22
CREBBP 7 11 3 0 0 21
SPTA1 2 10 9 0 0 21
KMT2C 0 20 0 0 0 20
KRAS 11 5 3 0 0 19
SDHD 2 0 3 11 3 19
LOC130002133, PTCH1 0 1 9 3 5 18
SETD2 0 15 3 0 0 18
BRAF 8 4 5 0 0 17
LOC130009266, POLE 0 2 2 13 0 17
AP2S1 2 0 2 11 1 16
MITF 0 1 2 10 3 16
PIK3R1 2 8 6 0 0 16
SPTB 4 7 5 0 0 16
HBB, LOC106099062, LOC107133510 15 0 0 0 0 15
SLC4A1 6 5 3 0 0 14
ANK1 4 6 3 0 0 13
CDKN1B 0 2 6 3 2 13
FAT1 0 12 1 0 0 13
LOC130062899, STK11 0 0 10 2 1 13
NOTCH1 4 5 3 1 0 13
HSALR1, PIEZO1 1 0 9 1 1 12
SMARCA4 0 8 4 0 0 12
CDKN2B 0 0 5 5 1 11
CIC 0 9 2 0 0 11
CTNNB1, LOC126806658 8 1 2 0 0 11
ERBB2 5 4 2 0 0 11
NF2 1 7 1 2 0 11
ARID1A, LOC129929837 1 9 0 0 0 10
CDKN2A, LOC130001603 0 0 2 6 2 10
KDM6A 0 9 1 0 0 10
ALPL 6 2 1 0 0 9
B2M 0 7 2 0 0 9
EP300 1 3 5 0 0 9
FBXW7 3 1 5 0 0 9
FGFR2 2 3 4 0 0 9
GATA3 0 3 6 0 0 9
LOC130004614, SUFU 0 0 4 3 2 9
MDH2 0 1 5 1 2 9
MYC 0 3 6 0 0 9
NRAS 9 0 0 0 0 9
ALK 1 2 5 0 0 8
APC, LOC129994371 0 1 4 1 2 8
C3 0 2 2 2 2 8
EPAS1 1 0 4 1 2 8
ESR1 4 1 3 0 0 8
RAD51B 0 1 4 0 3 8
SPOP 1 5 2 0 0 8
STAT3 3 1 4 0 0 8
TGFBR2 0 5 3 0 0 8
CDKN2B, LOC130001608 0 0 3 4 0 7
ERBB3 2 2 3 0 0 7
FAS 1 1 5 0 0 7
LRP1B 0 6 1 0 0 7
LZTR1 0 4 3 0 0 7
PBRM1 1 6 0 0 0 7
TET2 0 5 2 0 0 7
ATR 0 3 3 0 0 6
CDK12 0 3 2 0 1 6
CDKN2A, LOC130001606 0 0 0 6 0 6
F5 1 1 4 0 0 6
FANCA 2 2 2 0 0 6
G6PD 4 1 1 0 0 6
GNAS 2 0 2 0 2 6
IDH1 5 0 1 0 0 6
MAX 0 1 4 0 1 6
MEFV 1 1 3 1 0 6
PKLR 4 2 0 0 0 6
PTPN11 2 3 1 0 0 6
STAG2 0 5 1 0 0 6
TNFAIP3 0 4 2 0 0 6
ABCB11 1 1 3 0 0 5
ABCB4 2 1 1 0 1 5
ACTN1 2 2 1 0 0 5
ADAMTS13 0 1 3 0 1 5
AR 1 3 1 0 0 5
ARID1B 0 4 1 0 0 5
ASXL1 1 4 0 0 0 5
CCDST, FLG 4 1 0 0 0 5
CDH1, LOC130059290 0 0 1 4 0 5
EGLN1 0 0 4 0 1 5
ETV6 0 2 3 0 0 5
F8 1 3 0 0 1 5
FGFR3 3 0 2 0 0 5
FGG 1 2 2 0 0 5
GATA2 0 1 4 0 0 5
HFE 2 0 3 0 0 5
ID3 0 3 2 0 0 5
JAK3 0 0 5 0 0 5
KDR 0 0 5 0 0 5
KEAP1 0 2 3 0 0 5
KLF2 0 2 3 0 0 5
LOC126807437, MSH3 0 0 4 1 0 5
LOC129929541, SDHB 0 0 0 4 1 5
LOC130055403, TINF2 0 0 2 3 0 5
MAP2K1 1 4 0 0 0 5
MTOR 0 3 2 0 0 5
NBN 0 2 2 0 1 5
NOTCH2 0 3 2 0 0 5
PTCH2 0 0 3 1 1 5
PTPRT 0 5 0 0 0 5
RHOA 1 3 1 0 0 5
SEC23B 2 2 1 0 0 5
SMAD3 2 2 1 0 0 5
SMARCB1 0 2 3 0 0 5
SOCS1 0 1 4 0 0 5
TFR2 0 0 4 0 1 5
TNFRSF14 0 4 1 0 0 5
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 1 3 0 0 5
AKT1 1 2 1 0 0 4
ALAS2 1 3 0 0 0 4
ARID2 0 4 0 0 0 4
CARD11 0 3 1 0 0 4
CD46 0 2 2 0 0 4
CDK4, LOC130008148 0 0 1 3 0 4
CFI 2 1 1 0 0 4
CLCNKB, LOC106501713 0 1 2 1 0 4
CR2 0 0 4 0 0 4
EPB41 0 0 4 0 0 4
ERCC2 0 3 1 0 0 4
F11 2 2 0 0 0 4
FAT4 0 2 2 0 0 4
FGFR4 1 1 2 0 0 4
GP1BA 3 0 1 0 0 4
HAMP 0 2 1 1 0 4
HBA2, LOC106804612 2 1 0 0 1 4
LDLR 2 0 0 0 2 4
LOC126861339, SDHD 0 0 1 2 1 4
LOC129390903, RAD51C 0 0 3 1 0 4
LOC130058209, NTHL1 0 0 0 4 0 4
MUTYH, TOE1 0 0 1 2 1 4
MYH9 1 0 3 0 0 4
NFE2L2 0 4 0 0 0 4
PDGFRA 2 1 0 0 1 4
RAD50 0 2 2 0 0 4
SETD1B 0 3 1 0 0 4
SF3B1 2 0 2 0 0 4
SMARCA1 0 0 4 0 0 4
SOX9 0 0 4 0 0 4
TNFRSF13B 0 2 2 0 0 4
TSC2 0 1 3 0 0 4
TTN 0 1 2 1 0 4
TUBB1 0 0 3 1 0 4
UNC13D 0 0 3 0 1 4
AIMP2, PMS2 0 0 0 3 0 3
ATP7B 1 1 1 0 0 3
ATP8B1 2 0 1 0 0 3
BCL2, LOC130062676 0 0 3 0 0 3
BTK 0 2 1 0 0 3
CACNA1H 0 0 1 2 0 3
CD79B, GH-LCR 0 2 1 0 0 3
CDKN1A 0 3 0 0 0 3
CFH 0 1 1 0 1 3
COL1A1 1 0 2 0 0 3
DNMT3A 3 0 0 0 0 3
EPHA3 0 0 3 0 0 3
EZH2 1 2 0 0 0 3
F10 1 0 2 0 0 3
F7 0 2 1 0 0 3
FANCL 0 3 0 0 0 3
FGFR1 2 0 1 0 0 3
GATA1 0 2 1 0 0 3
GNA13 0 0 3 0 0 3
GP1BB, SEPT5-GP1BB 1 0 2 0 0 3
GRIN2A 0 1 2 0 0 3
HJV 1 0 0 0 2 3
HRAS, LRRC56 3 0 0 0 0 3
IDH2 2 2 0 0 0 3
ITGA2B 3 0 0 0 0 3
LRBA 0 1 2 0 0 3
LRP5 1 0 2 0 0 3
NLRP3 0 1 2 0 0 3
NOTCH3 0 0 3 0 0 3
NTHL1, TSC2 1 0 2 0 0 3
PIK3CB 0 2 1 0 0 3
PIK3CG 0 0 3 0 0 3
PPP2R1A 0 1 2 0 0 3
RBM10 0 3 0 0 0 3
RECQL 0 0 3 0 0 3
REV3L 0 0 3 0 0 3
RMRP 0 0 3 0 0 3
RTEL1, RTEL1-TNFRSF6B 2 1 0 0 0 3
RYR1 0 0 3 0 0 3
SLC40A1 0 0 1 1 1 3
STAT6 0 2 1 0 0 3
STXBP2 1 0 2 0 0 3
THBD 0 0 2 0 1 3
TMEM127 0 0 2 0 1 3
TNFRSF1A 0 1 1 0 1 3
TSC1 0 2 1 0 0 3
TUBGCP6 0 0 3 0 0 3
WAS 2 1 0 0 0 3
ABCC4 0 0 2 0 0 2
ACD, CARMIL2 0 0 0 2 0 2
ACVRL1 0 0 2 0 0 2
AMBN 0 2 0 0 0 2
AMER1 0 2 0 0 0 2
AR, LOC109504725 0 0 2 0 0 2
ARPC1B 0 0 2 0 0 2
ASMT 1 0 1 0 0 2
BAAT 0 0 1 0 1 2
BCAS3 0 1 1 0 0 2
BCL2 0 0 2 0 0 2
BCL7A, LOC130009021 0 2 0 0 0 2
BCOR 0 2 0 0 0 2
BIRC3 0 2 0 0 0 2
BLM 1 0 1 0 0 2
BLVRA 1 0 0 0 1 2
BRIP1, LOC130061360 0 0 0 2 0 2
C7 0 0 1 0 1 2
CBFB 0 1 1 0 0 2
CCDC141 0 0 2 0 0 2
CCND1 0 0 2 0 0 2
CCND3 0 0 2 0 0 2
CDK12, LOC126862553 0 2 0 0 0 2
CFTR 2 0 0 0 0 2
CHURC1-FNTB, FNTB, MAX 0 0 0 1 1 2
COL3A1 1 0 1 0 0 2
COL5A1 0 0 2 0 0 2
COL7A1 1 0 0 1 0 2
CPOX 1 0 1 0 0 2
CTCF 1 1 0 0 0 2
CXCR4 0 2 0 0 0 2
CYP27B1 2 0 0 0 0 2
DDX3X 0 1 1 0 0 2
DOCK8 0 0 2 0 0 2
DTX1 0 1 1 0 0 2
EBF1 0 2 0 0 0 2
EGLN2, RAB4B-EGLN2 0 0 1 0 1 2
EPHB2 0 0 2 0 0 2
F13B 0 0 2 0 0 2
F9 2 0 0 0 0 2
FAH 2 0 0 0 0 2
FANCD2, LOC107303338 0 1 1 0 0 2
FANCI 0 0 2 0 0 2
FAT1, LOC126807255 0 2 0 0 0 2
FGA 0 2 0 0 0 2
FOXA1 0 0 2 0 0 2
FOXO1 0 0 2 0 0 2
GFI1B 0 1 1 0 0 2
GJB2 2 0 0 0 0 2
GNAQ 1 0 1 0 0 2
GP1BA, LOC130060044 0 1 0 1 0 2
GPAA1 0 0 2 0 0 2
GPI 1 1 0 0 0 2
HBA1, LOC106804613 1 0 0 0 1 2
HBB, LOC107133510, LOC110006319 1 1 0 0 0 2
HERC2 1 0 1 0 0 2
HGF 0 0 2 0 0 2
HK1 0 2 0 0 0 2
HNF1A 0 2 0 0 0 2
HSPA9 0 1 0 0 1 2
INPP4A 0 2 0 0 0 2
ITGB3 1 1 0 0 0 2
ITPKB 0 0 0 0 2 2
KIT 0 1 1 0 0 2
KLF1, LOC117125591 1 0 1 0 0 2
KLHL14 0 0 2 0 0 2
KLHL6 0 0 2 0 0 2
KMT2B 0 2 0 0 0 2
KMT2D, LOC126861520 1 1 0 0 0 2
LOC106736614, RET 0 0 1 1 0 2
LOC107982234, WT1 1 0 0 0 1 2
LOC111811965, MIR4733HG, NF1 0 0 1 1 0 2
LOC126859807, TNFAIP3 0 2 0 0 0 2
LOC129929542, SDHB 0 0 1 1 0 2
LOC129933707, MSH6 0 0 0 2 0 2
LOC130002132, PTCH1 0 0 0 2 0 2
LOC130004599, NFKB2 0 0 2 0 0 2
LOC130055850, MAX 0 0 1 1 0 2
LOC130061310, RAD51C 0 0 0 2 0 2
MAN2C1 0 0 2 0 0 2
MAP2K4 1 1 0 0 0 2
MAP3K6 0 0 1 1 0 2
MRE11 0 1 1 0 0 2
MVK 1 0 1 0 0 2
MYD88 1 0 1 0 0 2
NFKB2 0 1 1 0 0 2
NLRC3 0 0 2 0 0 2
NSD1 0 1 1 0 0 2
NTRK3 0 0 2 0 0 2
PDGFRB 0 0 2 0 0 2
PIGG 1 0 1 0 0 2
PMM2 2 0 0 0 0 2
POLG 2 0 0 0 0 2
PPARG 0 1 1 0 0 2
PREX2 0 1 1 0 0 2
PRF1 2 0 0 0 0 2
PRKDC 0 2 0 0 0 2
PRSS1, TRB 1 0 1 0 0 2
PTPRD 0 1 1 0 0 2
RECQL4 0 0 2 0 0 2
RELA 0 2 0 0 0 2
RIPK1 0 1 1 0 0 2
ROS1 0 0 2 0 0 2
RPE65 1 1 0 0 0 2
RPS24 1 1 0 0 0 2
RUNX1 1 1 0 0 0 2
S1PR2 0 0 2 0 0 2
SAMHD1 0 1 1 0 0 2
SDHAF2 0 0 1 1 0 2
SERPINA1 2 0 0 0 0 2
SLC12A3 0 1 1 0 0 2
SLC19A1 0 0 2 0 0 2
SLC26A4 1 1 0 0 0 2
SLC34A1 0 0 2 0 0 2
SPTBN1 0 2 0 0 0 2
STAT1 2 0 0 0 0 2
TBL1XR1 0 1 1 0 0 2
TBX3 0 0 2 0 0 2
TBXAS1 0 1 1 0 0 2
THRB 1 1 0 0 0 2
TJP2 0 0 1 1 0 2
TNXB 0 1 1 0 0 2
TRAF3 0 1 0 0 1 2
WRN 0 0 2 0 0 2
WT1 1 0 0 1 0 2
ZFHX3 0 2 0 0 0 2
ABCB4, LOC129998756 0 0 0 1 0 1
ABCB7 0 0 1 0 0 1
ABCB7, LOC130068449 0 0 1 0 0 1
ABCG8 1 0 0 0 0 1
ABRAXAS1 0 0 1 0 0 1
ACADM 1 0 0 0 0 1
ACTB 0 0 1 0 0 1
ACTG1 0 0 1 0 0 1
ACVR1 0 0 1 0 0 1
ADAR 0 1 0 0 0 1
AICDA 0 0 1 0 0 1
AIP 0 0 0 0 1 1
AIRE 1 0 0 0 0 1
AKT2 0 1 0 0 0 1
AKT3 0 1 0 0 0 1
ALB 0 1 0 0 0 1
ANK1, LOC126860368 0 0 1 0 0 1
ANK1, LOC126860369 0 1 0 0 0 1
ANKRD11 0 1 0 0 0 1
ANKRD26 1 0 0 0 0 1
AP1S3 0 0 0 0 1 1
AREL1, MLH3 0 0 0 0 1 1
ARL14EP 0 0 1 0 0 1
ASXL2 0 0 1 0 0 1
ATP1A1 1 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 0 1 0 0 1
AXIN1 0 0 1 0 0 1
BCL10 0 1 0 0 0 1
BCL6 0 0 1 0 0 1
BCORL1 0 0 1 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 1
BMP6 0 0 1 0 0 1
BORCS8-MEF2B, MEF2B 0 0 1 0 0 1
BPTF 0 1 0 0 0 1
BTG1 0 0 1 0 0 1
BTG2 0 1 0 0 0 1
C1R 0 0 0 1 0 1
C1S 0 0 1 0 0 1
C2 0 1 0 0 0 1
C3AR1 0 1 0 0 0 1
C4B 0 1 0 0 0 1
C6 0 0 1 0 0 1
CA5A 0 0 1 0 0 1
CASK 0 1 0 0 0 1
CASP10 0 0 1 0 0 1
CASP8 0 1 0 0 0 1
CBFB, LOC130059175 0 1 0 0 0 1
CBL 0 0 1 0 0 1
CCNE1 0 0 1 0 0 1
CCNH, RASA1 0 1 0 0 0 1
CD274, INCR1 0 0 1 0 0 1
CD55 0 1 0 0 0 1
CD58, LOC129931274 0 1 0 0 0 1
CD70 0 0 1 0 0 1
CDC42 0 0 1 0 0 1
CDKN2C 0 1 0 0 0 1
CFAP126 0 0 0 1 0 1
CFHR5 0 0 0 1 0 1
CHD5 0 1 0 0 0 1
CHD7 1 0 0 0 0 1
CHD8 0 1 0 0 0 1
CHEK1 0 1 0 0 0 1
CIITA 0 0 1 0 0 1
CLCN7 1 0 0 0 0 1
COL2A1 1 0 0 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 1
COL4A5 0 1 0 0 0 1
COMP 0 0 1 0 0 1
CSF3R 1 0 0 0 0 1
CTLA4 1 0 0 0 0 1
CTLA4, LOC129935461 0 0 1 0 0 1
CTNNB1 0 1 0 0 0 1
CTNND2 0 0 1 0 0 1
CUL4B 1 0 0 0 0 1
CYB5R3 1 0 0 0 0 1
CYBB 0 0 1 0 0 1
CYLD 0 1 0 0 0 1
DCPS, GSEC 0 0 1 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DDX41 0 0 1 0 0 1
DEPDC5 1 0 0 0 0 1
DHCR7 1 0 0 0 0 1
DIPK1A, RPL5 0 0 1 0 0 1
DIS3 0 0 1 0 0 1
DMP1, DSPP 1 0 0 0 0 1
DNASE1L3 0 0 1 0 0 1
DNMT1 0 0 1 0 0 1
DOCK2 0 0 1 0 0 1
DOK7 1 0 0 0 0 1
DPYSL5 0 0 1 0 0 1
DYSF 1 0 0 0 0 1
EBF1, LOC129995155 0 1 0 0 0 1
EED 0 1 0 0 0 1
EGFR, LOC126860048 0 0 1 0 0 1
EGLN1, LOC129932769 0 0 1 0 0 1
EGR2 0 0 1 0 0 1
EIF1AX 0 1 0 0 0 1
ELANE 0 0 1 0 0 1
ELP1 0 0 1 0 0 1
EPAS1, LOC126806210 0 0 0 1 0 1
EPO 0 0 1 0 0 1
EPOR 0 0 0 1 0 1
ERAP1 0 0 1 0 0 1
ERCC3 0 1 0 0 0 1
ERCC4 0 1 0 0 0 1
ERG 0 0 1 0 0 1
ESR2 0 0 1 0 0 1
ETV6, LOC126861452 0 1 0 0 0 1
EXT1 1 0 0 0 0 1
EXT2, LOC126861201 0 1 0 0 0 1
F13A1 0 0 1 0 0 1
F2 1 0 0 0 0 1
F3 0 0 1 0 0 1
FAN1, MTMR10 0 1 0 0 0 1
FANCA, LOC112486223 0 1 0 0 0 1
FANCC 0 1 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 1
FANCF, LOC130005443 0 0 1 0 0 1
FANCL, VRK2 0 0 1 0 0 1
FAT1, LOC126807254 0 0 1 0 0 1
FBN1 0 1 0 0 0 1
FBXO11, MSH6 0 0 0 1 0 1
FBXW11 0 0 1 0 0 1
FGB 0 0 1 0 0 1
FGF16 0 0 1 0 0 1
FGF21, LOC109279247 0 0 1 0 0 1
FLNA 0 0 1 0 0 1
FLT3 0 0 0 0 1 1
FLT4 0 0 1 0 0 1
FOXJ1 0 0 1 0 0 1
FOXO3 0 0 1 0 0 1
FTL 1 0 0 0 0 1
FUBP1 0 0 1 0 0 1
GABBR1 0 0 1 0 0 1
GABRA1 0 0 1 0 0 1
GABRG2 0 1 0 0 0 1
GALC 1 0 0 0 0 1
GALNT12 0 0 1 0 0 1
GH-LCR, SCN4A 0 0 1 0 0 1
GIGYF1 0 0 1 0 0 1
GINS1 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 0 1
GNAI2 0 0 1 0 0 1
GNAI3 0 0 1 0 0 1
GSN 1 0 0 0 0 1
H3-3A 0 1 0 0 0 1
H3-3B 0 0 1 0 0 1
H3C2 0 1 0 0 0 1
HAX1 1 0 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HBD, LOC106099063 0 0 1 0 0 1
HGD 1 0 0 0 0 1
HNF4A 0 0 0 1 0 1
HNRNPK 0 0 1 0 0 1
HOXB13 0 1 0 0 0 1
HOXD13 1 0 0 0 0 1
HSD11B2 0 0 1 0 0 1
IGF1R 0 0 1 0 0 1
IKZF1 0 1 0 0 0 1
IKZF5 0 0 1 0 0 1
IL12RB1 0 0 1 0 0 1
IL17F 0 0 1 0 0 1
IL7R 0 0 1 0 0 1
INO80 0 0 1 0 0 1
INSL6, JAK2 0 0 1 0 0 1
IQCG, RPL35A 0 1 0 0 0 1
IRF4 0 0 1 0 0 1
IRF7 0 0 1 0 0 1
IRF8 0 1 0 0 0 1
IRS4 0 0 1 0 0 1
JAG1 0 1 0 0 0 1
JAGN1 0 0 1 0 0 1
KARS1, TERF2IP 0 0 0 0 1 1
KCNN4 1 0 0 0 0 1
KCNT1 0 0 1 0 0 1
KDM3B 0 1 0 0 0 1
KDM5C 0 1 0 0 0 1
KLHL3 0 1 0 0 0 1
KLLN, LOC130004273, MLDHR, PTEN 0 0 0 0 1 1
KLLN, PTEN 0 0 1 0 0 1
KMT2A 0 1 0 0 0 1
LATS1 0 1 0 0 0 1
LOC107985033, SLFN14 0 0 1 0 0 1
LOC107988042, MITF 0 0 0 1 0 1
LOC114803475, PPARG 0 0 1 0 0 1
LOC126806878, TBL1XR1 0 0 1 0 0 1
LOC126860346, NRG1 0 1 0 0 0 1
LOC126860757, PTGS1 0 0 1 0 0 1
LOC126862264, MEFV 0 0 1 0 0 1
LOC126862483, TP53, WRAP53 0 0 1 0 0 1
LOC126862987, SEC23B 1 0 0 0 0 1
LOC126863252, RBM10 0 1 0 0 0 1
LOC129934333, TMEM127 0 0 1 0 0 1
LOC129936413, OSBPL10 0 0 1 0 0 1
LOC129994918, NR3C1 0 0 1 0 0 1
LOC129996315, PIM1 0 0 1 0 0 1
LOC130004273, MLDHR, PTEN 0 0 1 0 0 1
LOC130004274, PTEN 0 0 0 1 0 1
LOC130006055, RELA 0 0 1 0 0 1
LOC130055404, TINF2 0 0 0 1 0 1
LOC130067016, LZTR1 0 1 0 0 0 1
LPAR6, RB1 0 0 0 0 1 1
LRP6 0 0 1 0 0 1
LTB 0 0 1 0 0 1
LTBP1 0 0 1 0 0 1
LTBR, SCNN1A 0 0 0 0 1 1
LYN 0 0 1 0 0 1
MADD 0 0 1 0 0 1
MAPK1 0 1 0 0 0 1
MAPK3 0 0 1 0 0 1
MASTL 0 0 1 0 0 1
MC1R 0 0 1 0 0 1
MDM2 0 0 1 0 0 1
MED13L 1 0 0 0 0 1
MEF2C 0 1 0 0 0 1
MFSD11, SRSF2 1 0 0 0 0 1
MGA 0 1 0 0 0 1
MMACHC 0 0 1 0 0 1
MPL 1 0 0 0 0 1
MSH5, MSH5-SAPCD1 0 0 1 0 0 1
MSN 1 0 0 0 0 1
MVP-DT, PRRT2 0 1 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 1
MYO7A 1 0 0 0 0 1
NAA10 0 1 0 0 0 1
NBEA 0 0 1 0 0 1
NBEAL2 1 0 0 0 0 1
NEK10 0 0 1 0 0 1
NF1, OMG 0 0 0 0 1 1
NFKB1 0 0 1 0 0 1
NFKBIA 0 1 0 0 0 1
NFKBIE 0 1 0 0 0 1
NIPBL 1 0 0 0 0 1
NKIRAS1, RPL15 0 0 1 0 0 1
NLRC4 0 0 1 0 0 1
NTRK1 0 0 1 0 0 1
NTRK2 0 0 1 0 0 1
PCM1 0 0 1 0 0 1
PDE4D 0 0 1 0 0 1
PFKM 0 0 1 0 0 1
PGK1 1 0 0 0 0 1
PGM3 0 1 0 0 0 1
PHEX 1 0 0 0 0 1
PHEX, PTCHD1 0 0 0 1 0 1
PIGA 0 1 0 0 0 1
PIM1 0 0 1 0 0 1
PLA2G4A 0 0 1 0 0 1
PLG 0 1 0 0 0 1
PLOD1 0 0 1 0 0 1
PLXNA3 0 0 1 0 0 1
PMP22 0 0 1 0 0 1
POLG, POLGARF 0 1 0 0 0 1
POLR3A 0 1 0 0 0 1
POLR3C 0 0 1 0 0 1
PRDM1 0 0 1 0 0 1
PRKCD 0 0 1 0 0 1
PRPF8 0 1 0 0 0 1
PTPN1 0 0 1 0 0 1
PTPN6 0 0 1 0 0 1
PTPRJ 0 0 1 0 0 1
PTPRS 0 1 0 0 0 1
RAB1B 0 0 1 0 0 1
RAC1 0 1 0 0 0 1
RAD17 0 1 0 0 0 1
RAD21 0 1 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 0 1 0 0 1
RAD52 0 0 1 0 0 1
RAG1 0 0 0 0 1 1
RAG2 0 0 0 0 1 1
RANBP2 0 1 0 0 0 1
RARA 0 0 1 0 0 1
RASA1 0 0 1 0 0 1
RBBP8 0 0 1 0 0 1
RBCK1 0 0 1 0 0 1
RELN 0 0 1 0 0 1
RFX5 0 1 0 0 0 1
RHOH 0 0 1 0 0 1
RICTOR 0 0 1 0 0 1
RIT1 0 1 0 0 0 1
RNASEH2B 0 1 0 0 0 1
RPL11 1 0 0 0 0 1
RPS6KA2 0 0 1 0 0 1
RYR2 0 0 1 0 0 1
SCNN1A 1 0 0 0 0 1
SCNN1B 0 0 0 1 0 1
SERPINA6 0 0 1 0 0 1
SERPINA7 0 0 1 0 0 1
SERPINC1 0 0 1 0 0 1
SETD5 0 1 0 0 0 1
SGCG 0 1 0 0 0 1
SH3BP5 0 0 1 0 0 1
SLC12A1 0 0 1 0 0 1
SLC19A2 1 0 0 0 0 1
SLC2A1 0 0 1 0 0 1
SLC34A3 0 0 0 0 1 1
SLCO2A1 0 0 1 0 0 1
SMAD2 0 1 0 0 0 1
SMARCAL1 1 0 0 0 0 1
SMO 0 1 0 0 0 1
SOS1 0 0 1 0 0 1
SOX5 1 0 0 0 0 1
SPEN 0 1 0 0 0 1
SPINK1 0 0 0 1 0 1
SRC 0 0 1 0 0 1
SRP72 0 0 1 0 0 1
STAB2 0 0 1 0 0 1
STAT5B 1 0 0 0 0 1
STEAP3 0 0 1 0 0 1
STIM1 0 0 1 0 0 1
STX11 0 0 1 0 0 1
SUZ12 0 1 0 0 0 1
TBXA2R 0 0 1 0 0 1
TCF20 1 0 0 0 0 1
TCF3 0 0 1 0 0 1
TCF7L2 0 0 0 1 0 1
TCIRG1 0 0 0 0 1 1
TENM4 0 0 1 0 0 1
TERT 0 0 1 0 0 1
TG 0 0 1 0 0 1
TGFB1 0 0 1 0 0 1
TGFBR1 0 0 1 0 0 1
TGM1, TINF2 0 0 1 0 0 1
THBS2 0 0 1 0 0 1
TLK2 0 1 0 0 0 1
TLR3 0 0 1 0 0 1
TMEM240 0 0 1 0 0 1
TMPRSS6 0 0 1 0 0 1
TMSB4X 0 0 1 0 0 1
TNFSF12-TNFSF13, TNFSF13 0 1 0 0 0 1
TPO 1 0 0 0 0 1
TRAF2 0 1 0 0 0 1
TRAF7 0 0 1 0 0 1
TRNT1 0 1 0 0 0 1
TUBA8 0 0 1 0 0 1
U2AF1 1 0 0 0 0 1
UNC119 0 0 1 0 0 1
USP39 0 0 1 0 0 1
USP7 0 1 0 0 0 1
VAV1 0 0 1 0 0 1
VDR 0 0 0 1 0 1
VPS33B 0 0 1 0 0 1
VTN 0 0 1 0 0 1
WDFY3 0 0 1 0 0 1
WFS1 0 0 1 0 0 1
WNK1 0 0 1 0 0 1
WNT1 0 0 1 0 0 1
WNT11 0 0 1 0 0 1
XBP1 0 0 1 0 0 1
XIAP 1 0 0 0 0 1
XPO1 0 1 0 0 0 1
ZBTB20 0 1 0 0 0 1
ZEB2 0 0 1 0 0 1
ZNF687 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 1 1 3266 5215 1149 9632
Neoplasm 346 912 449 4 4 1715
not provided 711 424 0 0 0 1135
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 0 0 0 1

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