ClinVar Miner

Variants from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Location: Netherlands  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
1161 230 2161 7674 4522 15741

Gene and significance breakdown #

Total genes and gene combinations: 2663
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 6 9 186 441 335 977
BRCA2 82 0 15 104 99 300
BRCA1 58 0 4 30 66 158
MYBPC3 37 3 25 26 39 130
SYNE1 1 0 16 49 59 125
MYH6 0 0 27 47 35 109
USH2A 15 1 29 35 15 95
RYR2 1 0 12 43 32 88
MYH7 17 6 18 18 28 87
DSP 3 2 11 36 34 86
TSC2 3 0 3 14 61 81
NOTCH1 0 0 11 43 23 77
PKD1 1 0 4 63 8 76
FLNC 3 1 19 42 10 75
NF1 33 0 2 3 33 71
PRDM16 0 0 11 34 26 71
ADGRV1 1 0 15 50 4 70
LAMA4 0 0 8 36 22 66
SCN5A 2 0 11 35 18 66
WFS1 1 4 8 37 16 66
RBM20 0 0 8 35 20 63
RP1L1 0 1 4 47 11 63
ATM 4 1 10 35 10 59
DSG2 1 0 4 35 19 59
FLNA 1 0 2 35 20 58
CDH23 2 0 18 24 11 55
MYPN 0 0 8 28 18 54
ALPK3 1 0 8 21 23 53
PCNT 0 0 0 20 33 53
VPS13B 0 0 8 31 14 53
MYO7A 4 6 14 26 2 52
CFTR 31 0 7 8 5 51
MYLK 0 0 8 13 29 50
ABCC9 0 1 6 21 21 49
FBN1 2 2 10 26 9 49
CHD7 6 1 1 27 13 48
COL4A1 2 0 3 11 32 48
FAT4 0 0 5 15 27 47
SETX 1 0 1 21 24 47
VCL 0 0 11 20 16 47
LDB3 0 0 11 17 18 46
EYS 5 0 4 21 15 45
FBN2 0 0 5 32 8 45
PKP2 5 0 10 19 12 45
ABCA4 15 3 9 6 11 44
ALMS1 4 2 2 29 6 43
APC 7 0 3 13 20 43
MSH6 16 0 3 5 19 43
DMD 0 0 5 27 9 41
RELN 0 0 2 16 23 41
APOB 0 0 5 29 6 40
CTNNA3 0 0 8 14 18 40
DCHS1 0 1 6 19 14 40
CPLANE1 3 0 5 23 8 39
DYNC2H1 0 0 6 5 28 39
PLEC 0 0 10 25 4 39
CACNA1A 0 1 0 17 20 38
FGFR3 10 0 2 12 14 38
ACTN2 0 0 7 16 14 37
LRP5 0 0 4 25 8 37
NPHP4 0 0 8 19 10 37
POLG, POLGARF 6 1 6 15 9 37
LYST 0 0 3 30 3 36
MSH2 12 2 2 8 12 36
DNAH5 1 0 5 4 25 35
JUP 0 0 6 14 15 35
MLH1 15 1 1 1 17 35
NPC1 3 3 4 11 15 35
TSC1 4 0 3 4 24 35
MAGEL2 0 0 7 24 3 34
DSC2 2 0 4 19 8 33
DYNC1H1 0 0 1 17 15 33
GAA 16 0 1 2 14 33
MYH11, NDE1 0 0 3 23 7 33
PCDH15 3 0 4 19 7 33
COL4A2 1 1 4 5 21 32
ZNF469 0 0 0 26 6 32
SACS 1 0 3 10 17 31
ATM, C11orf65 6 1 7 12 4 30
CEP290 8 1 5 9 7 30
FRAS1 1 0 6 17 6 30
JPH2 0 0 3 17 10 30
MYH11 0 0 4 25 1 30
TNNT2 3 2 4 8 13 30
DST 0 0 10 16 3 29
LAMC3 0 0 2 7 20 29
PMS2 2 1 0 7 19 29
COL11A2 1 0 6 14 7 28
DES 1 1 6 6 14 28
MECP2 8 0 1 14 5 28
HCN4 0 0 5 19 3 27
JAG1 2 0 3 6 16 27
TMEM43 0 0 2 12 13 27
KIF7 1 0 1 6 18 26
PRKAG2 1 0 4 12 9 26
ARHGEF28 0 0 0 5 20 25
GNAS 0 0 5 16 4 25
KMT2D 0 0 2 19 4 25
BRCA1, LOC126862571 10 0 2 4 8 24
COL2A1 4 0 1 12 7 24
DNAH11 2 0 2 2 18 24
GALC 4 0 1 7 12 24
LMNA 3 0 7 6 8 24
LRP2 0 0 4 17 3 24
NEXN 0 0 7 13 4 24
NOTCH3 1 0 2 8 13 24
BAG3 0 0 3 13 7 23
COL11A1 0 1 3 11 8 23
COL5A1 0 0 3 13 7 23
DNMT1 0 0 1 14 8 23
EIF4G1 0 0 0 14 9 23
FGFR2 13 0 1 0 9 23
GLI3 4 0 2 4 13 23
NEB 0 1 5 11 6 23
RECQL4 2 0 3 17 1 23
RYR1 0 0 9 12 2 23
VPS13A 0 0 1 18 4 23
ASPM 1 0 0 1 20 22
ATP7B 2 0 2 14 4 22
CC2D2A 2 1 4 9 6 22
COL18A1, SLC19A1 1 0 1 9 11 22
CSF1R 0 0 1 15 6 22
FLG 2 0 0 10 10 22
GJB2 10 1 2 4 5 22
LAMA2 1 0 5 12 4 22
SLC26A4 7 0 5 4 6 22
SORL1 0 0 0 7 15 22
WDR62 0 0 1 5 16 22
ALS2 1 0 2 10 8 21
CHEK2 3 3 10 5 0 21
CNTNAP2 0 0 1 10 10 21
WDR19 0 0 1 16 4 21
ATP13A2 0 0 0 11 9 20
CALR3 1 0 4 5 12 20
CFH 0 0 7 9 4 20
COL3A1 2 0 0 10 8 20
CP 0 0 3 7 10 20
MIB1 0 1 3 11 5 20
NOTCH2 0 0 2 11 7 20
PEX1 2 0 2 8 8 20
RANBP2 0 0 2 18 0 20
SPG11 1 0 4 14 1 20
ABCC6 1 0 2 12 4 19
CCDST, FLG 3 0 0 15 1 19
CYP27A1 1 2 3 12 2 19
ERCC2 1 0 5 5 8 19
IFT140 1 0 2 12 4 19
KIF1A 0 0 2 16 1 19
MCPH1 0 0 0 2 17 19
NSD1 0 0 1 6 12 19
PLCG2 0 0 2 14 3 19
RTEL1, RTEL1-TNFRSF6B 1 0 1 8 9 19
TPM1 2 1 2 5 9 19
VCAN 1 0 1 15 2 19
CACNA1D 0 0 2 14 2 18
CNGB1 2 0 2 14 0 18
LOC101927055, TTN 0 0 2 2 14 18
MYH14 0 0 5 10 3 18
MYO15A 5 2 4 2 5 18
NEBL 0 0 1 15 2 18
PAH 14 3 1 0 0 18
PKHD1 2 0 2 12 2 18
BBS12 1 0 1 2 13 17
BIVM-ERCC5, ERCC5 0 0 1 9 7 17
BLM 3 1 1 10 2 17
ELN 0 0 1 16 0 17
IDUA 4 0 0 1 12 17
LRRK2 1 0 0 1 15 17
MUTYH 6 0 2 3 6 17
PDGFRB 0 0 0 12 5 17
POLE 0 0 1 14 2 17
SCN8A 0 0 1 9 7 17
TSEN54 1 0 2 0 14 17
AHI1 2 0 2 8 4 16
ALK 0 0 0 4 12 16
ANKRD1 0 0 4 9 4 16
ATR 0 0 3 10 3 16
CACNA1C 0 0 3 11 2 16
CASQ2 0 0 1 6 9 16
COL4A3, MFF-DT 0 0 3 13 0 16
FLNB 1 0 4 9 2 16
FREM2 1 0 5 8 2 16
LOC126861896, MYH6 0 0 2 6 8 16
MAPT 2 0 0 5 9 16
PALB2 3 1 4 8 0 16
RAI1 0 0 1 11 4 16
RP1 3 0 4 9 0 16
RPGRIP1 1 0 1 6 8 16
SLC2A1 0 0 1 10 5 16
TNNI3 4 2 0 3 7 16
VWF 5 0 2 8 1 16
ATRX 1 0 1 10 3 15
CEP152 1 0 2 6 6 15
COL9A1 0 0 2 11 2 15
COQ8A 2 0 0 7 6 15
CREBBP 1 0 2 11 1 15
DNAJC13 0 0 0 5 10 15
DOCK6 0 1 3 7 4 15
DOCK8 0 1 5 6 3 15
GLA, RPL36A-HNRNPH2 1 0 1 7 6 15
GLI2 0 0 2 11 2 15
GPC3 0 0 1 9 5 15
GRN 2 0 1 6 6 15
LAMP2 0 0 1 9 5 15
LOC126806425, TTN 0 0 6 3 6 15
MFN2 1 0 1 13 0 15
MYL2 5 0 0 1 9 15
NOD2 0 0 3 6 6 15
PIEZO1 0 0 4 9 2 15
PNKP 2 0 0 7 6 15
DSPP 0 0 1 12 1 14
EMD 0 0 1 10 3 14
HCFC1 0 0 0 11 3 14
HSPG2 0 0 2 11 1 14
ITPR1 0 0 1 8 5 14
LZTR1 1 0 1 6 6 14
MTTP 0 0 1 13 0 14
MVK 4 0 3 6 1 14
MYH9 1 0 0 12 1 14
NBN 1 0 1 4 8 14
NLRP3 0 0 2 7 5 14
PLA2G6 0 0 3 5 6 14
PLOD1 0 1 2 10 1 14
POMT1 0 0 1 4 9 14
RPGR 5 0 1 8 0 14
SKI 0 0 1 12 1 14
TERT 0 2 1 9 2 14
TRPM1 1 0 3 8 2 14
TXNRD2 0 0 1 13 0 14
ACAN 0 0 3 8 2 13
ALG13 0 0 0 12 1 13
AP3B1 0 0 2 10 1 13
ASXL1 0 0 0 5 8 13
CLN3 1 0 2 9 1 13
COL1A1 1 0 1 8 3 13
COL6A3 0 0 7 6 0 13
COL9A3 0 0 1 4 8 13
DCTN1 0 0 5 3 5 13
DUOX2 1 0 0 5 7 13
ERCC6 1 0 3 3 6 13
FIG4 1 0 0 3 9 13
INPP5E 0 0 0 8 5 13
LOC114827851, MYH6 0 0 2 1 10 13
LOC126806430, TTN 0 0 2 8 3 13
MEFV 2 1 5 4 1 13
MTHFR 0 0 2 4 7 13
NPHP3, NPHP3-ACAD11 2 0 2 6 3 13
OFD1 0 0 0 9 4 13
TG 0 1 2 8 2 13
TGM6 0 0 1 2 10 13
A2ML1 0 0 1 10 1 12
ACTC1, GJD2-DT 3 0 0 5 4 12
ACTG1 0 1 1 6 4 12
AKAP9 0 0 2 9 1 12
ANKRD11 1 0 0 11 0 12
AXIN2 0 0 0 12 0 12
BBS2 0 0 1 6 5 12
BBS4 0 0 1 5 6 12
BBS9 0 0 1 4 7 12
BEST1 5 0 3 3 1 12
C3 0 0 2 8 2 12
CACNA1F 2 0 5 5 0 12
CCDC88C 0 0 4 7 1 12
CENPJ 0 1 1 1 9 12
CERKL 1 0 2 6 3 12
COL5A2 0 0 0 11 1 12
CRB1 3 0 4 5 0 12
CUBN 1 0 1 6 4 12
DICER1 1 0 1 5 5 12
FKTN 0 0 1 3 8 12
GPR179 0 0 1 9 2 12
GUCY2D 1 0 4 5 2 12
IGF1R 0 0 1 5 6 12
LAMA1 1 1 2 7 1 12
LOC126806428, TTN 0 0 2 3 7 12
LRBA 0 0 4 5 3 12
MED12 0 0 3 8 1 12
MYL3 0 0 5 4 3 12
PCARE 1 0 2 5 4 12
SNRNP200 1 0 0 10 1 12
WDPCP 1 0 1 8 2 12
WRN 1 0 2 9 0 12
AIPL1 0 0 3 7 1 11
ALPL 1 1 0 0 9 11
AP3D1 0 0 1 9 1 11
ATP1A3 2 0 0 6 3 11
ATRIP, ATRIP-TREX1, TREX1 1 0 2 4 4 11
CDHR1 1 0 3 7 0 11
CDK5RAP2 0 0 1 0 10 11
COL1A2 0 0 0 10 1 11
COL9A2 0 0 1 4 6 11
CPS1 0 0 0 2 9 11
CSRP3 0 1 4 1 5 11
ERBB4 0 0 0 7 4 11
FLCN 2 0 1 3 5 11
FUS 1 0 0 5 5 11
INSR 0 0 0 5 6 11
KCNQ1 0 0 1 7 3 11
LDLR 1 0 1 7 2 11
LOC126806422, TTN 0 0 2 5 4 11
MRE11 0 0 2 6 3 11
MYOZ2 0 0 1 2 8 11
NAGLU 4 0 1 4 2 11
NBAS 0 0 4 7 0 11
NEK1 0 0 0 3 8 11
OPA1 2 0 2 5 2 11
PAPSS2 0 0 1 7 3 11
PSTPIP1 1 0 1 8 1 11
PTCH1 0 0 0 8 3 11
RHO 5 0 1 4 1 11
RPGRIP1L 0 0 0 7 4 11
SGSH 7 0 0 1 3 11
SMAD3 1 1 3 3 3 11
SPG7 4 0 2 2 3 11
SYNE2 0 0 0 7 4 11
SYNJ1 0 0 1 4 6 11
SZT2 0 0 0 11 0 11
TGFBR2 0 1 1 5 4 11
TH 0 0 3 4 4 11
TMEM67 1 1 1 5 3 11
TNXB 1 0 0 10 0 11
TTC21B 1 0 0 5 5 11
TTR 2 1 2 5 1 11
WHRN 0 0 4 6 1 11
ABCA1 0 0 1 8 1 10
AIRE 1 0 0 8 1 10
ATP7A 0 0 2 3 5 10
CACNA2D4 0 0 2 8 0 10
CCDC40 0 0 1 4 5 10
CNGA3 3 2 1 4 0 10
COL4A4 1 0 1 6 2 10
CRB2 0 0 1 8 1 10
DNAAF3, TNNI3 0 0 0 0 10 10
DTNA 0 0 2 8 0 10
EPG5 0 0 2 6 2 10
FKRP 1 0 0 5 4 10
IFIH1 0 0 1 8 1 10
IFRD1 0 0 1 2 7 10
IQSEC2 0 0 2 8 0 10
LOC126806427, TTN 0 0 1 4 5 10
LPIN2 0 0 1 8 1 10
MHRT, MYH7 0 0 3 2 5 10
MYH3 1 0 1 5 3 10
NEFH 0 0 2 1 7 10
NKX2-5 0 0 0 4 6 10
PIK3CA 0 1 0 5 4 10
POMGNT1, TSPAN1 0 3 0 2 5 10
POMT2 0 0 1 3 6 10
PRKAR1B 0 0 0 3 7 10
PRKCG 1 0 2 1 6 10
PTPN11 7 0 0 3 0 10
SLC20A2 0 0 1 4 5 10
SLC2A10 1 0 0 6 3 10
SPTBN2 0 0 5 3 2 10
SQSTM1 0 0 1 7 2 10
TBC1D24 0 0 1 6 3 10
TCOF1 0 0 0 9 1 10
TPO 1 1 0 1 7 10
USH1C 2 1 1 5 1 10
VCP 0 0 0 6 4 10
ZNF423 0 0 0 10 0 10
ABCD1 0 0 3 6 0 9
AKT1 0 0 0 4 5 9
ANK2 0 0 1 8 0 9
ANO5 2 1 1 4 1 9
ATP2B3 0 0 0 3 6 9
CACNA1H 0 0 1 6 2 9
CFHR5 0 0 2 6 1 9
CNGB3 3 0 0 3 3 9
COL7A1 1 0 2 6 0 9
EFEMP2 0 0 1 5 3 9
GLDC 0 1 0 6 2 9
GRM1 0 0 0 2 7 9
IDS, LOC106050102 0 1 0 4 4 9
IFT172 0 0 1 8 0 9
IL10RA 0 0 0 8 1 9
KCND3 0 0 0 3 6 9
KCNT1 0 0 0 9 0 9
KCNV2 2 0 2 4 1 9
KDM6B 0 0 0 4 5 9
LARGE1 0 0 2 2 5 9
LOC126806424, TTN 0 1 1 5 2 9
MAN2B1 0 0 0 9 0 9
MKS1 0 1 0 6 2 9
MTOR 0 0 0 6 3 9
NRXN1 0 1 1 7 0 9
OBSCN 0 0 1 8 0 9
PAX6 0 0 0 7 2 9
PDZD7 0 0 3 5 1 9
PHYH 0 0 5 3 1 9
PNPLA6 0 0 0 6 3 9
POLD1 0 0 0 8 1 9
PRKDC 0 0 1 7 1 9
PRPH2 2 0 0 2 5 9
PSEN2 0 0 0 5 4 9
RAF1 1 1 2 4 1 9
RELN, SLC26A5 0 0 2 2 5 9
RET 1 0 0 3 5 9
RIMS1 0 0 2 6 1 9
SHROOM4 0 0 0 4 5 9
SLC52A2 1 0 3 5 0 9
SLC6A3 0 0 0 3 6 9
SLC6A8 0 0 1 6 2 9
SLX4 0 0 0 6 3 9
TAFAZZIN 2 0 1 4 2 9
TBCEL-TECTA, TECTA 0 2 4 3 0 9
TPP1 3 1 0 2 3 9
TTC7A 0 0 2 7 0 9
TTLL5 0 0 2 7 0 9
UNC13D 1 0 1 3 4 9
WDR35 0 0 0 3 6 9
ZFYVE26 0 0 1 6 2 9
AARS1 0 0 1 6 1 8
ABCG5, DYNC2LI1 2 0 1 4 1 8
AR, LOC109504725 0 0 0 1 7 8
ARID1B 1 0 0 6 1 8
ATP6V0A2 0 0 0 2 6 8
BBS1, ZDHHC24 0 0 1 3 4 8
CEL 0 0 0 5 3 8
COL18A1 1 0 0 4 3 8
COL6A2 0 0 2 6 0 8
DHX38 0 0 0 7 1 8
FAM161A 3 0 0 2 3 8
FLVCR1 0 0 2 1 5 8
FOXE3, LINC01389 0 0 1 6 1 8
FPGT-TNNI3K, TNNI3K 0 0 1 6 1 8
GATA4 0 0 1 5 2 8
GHR 1 0 0 2 5 8
HUWE1 0 0 0 8 0 8
IFT122 0 0 0 4 4 8
IHH 1 0 0 3 4 8
IMPDH1 0 0 1 7 0 8
KRIT1 6 0 0 0 2 8
LOC126861897, MHRT, MYH7 0 1 1 3 3 8
MET 0 0 1 6 1 8
MKKS 1 0 0 3 4 8
MYLK2 0 0 0 8 0 8
MYO6 1 0 1 5 1 8
NHS 0 0 1 5 2 8
NLRP1 0 0 0 8 0 8
NLRP12 0 0 1 4 3 8
PDE6B 2 0 2 3 1 8
PMM2 6 0 2 0 0 8
PRF1 1 1 3 2 1 8
RAB3GAP2 0 0 1 0 7 8
RNASEH2B 2 0 2 2 2 8
SALL1 0 0 0 2 6 8
SALL4 0 0 0 2 6 8
SDCCAG8 0 0 1 5 2 8
SERPINA1 5 0 0 0 3 8
SERPINI1 0 0 0 4 4 8
SGCD 0 0 1 4 3 8
SRCAP 1 0 0 7 0 8
SYN1 0 0 0 7 1 8
TGFBR1 0 0 1 6 1 8
WNK1 0 0 1 6 1 8
ABCG8 1 0 2 4 0 7
ABL1 0 0 0 4 3 7
AFF2 0 0 1 5 1 7
AFG3L2 0 0 1 1 5 7
AGA 1 0 1 3 2 7
ANO10 0 0 0 1 6 7
APOL1 0 0 0 4 3 7
AR 2 0 0 3 2 7
ARSA 3 0 0 1 3 7
ARX 0 0 0 7 0 7
BEST1, FTH1 1 0 0 3 3 7
C1QTNF5, MFRP 1 0 1 5 0 7
CACNA1G 0 0 0 7 0 7
CAV3, OXTR 0 0 1 4 2 7
CCM2 1 0 0 1 5 7
CDH1 0 0 0 6 1 7
CEP41 0 0 2 3 2 7
CLN5 1 0 0 2 4 7
CRPPA 0 0 0 2 5 7
CTC1 1 0 1 5 0 7
DHCR7 3 0 1 2 1 7
DNAJC6 0 0 0 0 7 7
EVC 1 0 0 6 0 7
FBXO7 0 0 1 3 3 7
FHL1 0 0 1 1 5 7
FREM1 0 0 4 3 0 7
GRIN2B 1 1 0 5 0 7
GRM6, ZNF454 0 0 2 4 1 7
HGSNAT 3 0 1 1 2 7
IGSF1 0 0 0 6 1 7
IL17RA 0 0 1 4 2 7
IL17RC 0 0 0 7 0 7
ILK, TAF10 0 0 2 2 3 7
IMPG1 0 0 1 3 3 7
IMPG2 3 0 1 2 1 7
IRF2BPL 0 0 0 6 1 7
JAK3 1 0 0 6 0 7
KARS1 0 0 2 3 2 7
KCNC3 0 0 0 5 2 7
KCNE1 0 0 2 4 1 7
KCNMA1 0 0 0 7 0 7
KCNQ4 1 0 1 2 3 7
KDM5C 0 0 1 4 2 7
KIF1B 0 0 1 6 0 7
LMF1 0 0 1 2 4 7
LOC126806423, TTN 0 0 1 1 5 7
LOC126806431, TTN 0 0 2 3 2 7
LOC126861898, MYH7 1 2 2 2 0 7
LOC126862264, MEFV 3 1 1 1 1 7
LOXHD1 2 0 4 1 0 7
MED13L 0 0 0 6 1 7
MEGF8 0 0 2 5 0 7
MERTK 0 0 1 5 1 7
NSDHL 0 0 1 6 0 7
OCA2 3 0 3 1 0 7
OCRL 0 0 0 4 3 7
OPN1MW 0 0 1 4 2 7
PCDH19 0 0 0 7 0 7
PDE6A 0 1 1 2 3 7
PDE6C 0 0 1 5 1 7
PDLIM3 0 0 1 5 1 7
PIK3R2 1 0 0 0 6 7
PTEN 1 1 0 5 0 7
PXDN 0 0 1 5 1 7
RBP3 0 0 1 5 1 7
SCN1A 0 0 0 5 2 7
SCN1A, SCN9A 0 0 1 6 0 7
SLC12A6 0 0 0 4 3 7
SLC6A19 2 0 1 4 0 7
SMAD4 0 0 0 7 0 7
SMAD6 1 0 1 3 2 7
SMARCA4 0 0 0 5 2 7
SMPD1 0 0 1 4 2 7
SON 1 0 0 6 0 7
SOS1 0 0 0 7 0 7
SOX9 0 0 0 0 7 7
SPINK5 0 0 2 4 1 7
STAT1 1 0 0 6 0 7
STK11 3 0 0 2 2 7
TAF1 0 0 0 6 1 7
TAP1 0 0 2 3 2 7
TCAP 0 0 2 3 2 7
TCIRG1 1 0 2 3 1 7
TMPRSS3 4 1 0 1 1 7
TNFAIP3 0 0 0 7 0 7
TNNC1 1 0 1 5 0 7
TYR 3 2 1 1 0 7
USH1G 0 0 3 4 0 7
XDH 0 0 1 4 2 7
ACVR2B 0 0 0 1 5 6
ADAMTS17 1 0 2 3 0 6
ADAMTS18 0 0 1 2 3 6
ADAR 0 0 1 5 0 6
AMER1 0 0 0 5 1 6
APTX 2 0 0 1 3 6
ARHGEF10 0 0 0 5 1 6
ASPH 0 0 0 5 1 6
ATP1A2 0 0 3 3 0 6
AUTS2 0 0 1 5 0 6
BCOR 0 0 3 3 0 6
BRIP1 0 0 0 5 1 6
BRWD3 0 0 3 3 0 6
C10orf105, CDH23 1 0 1 1 3 6
C19orf12 0 0 0 5 1 6
C6 0 1 2 2 1 6
CACNB4 0 0 1 5 0 6
CAPN5 0 0 0 6 0 6
CBL 0 0 1 4 1 6
CBS 1 0 0 3 2 6
CNGA1, LOC101927157 0 1 2 3 0 6
COL5A1, LOC101448202 0 0 0 2 4 6
CRYAB 0 0 1 3 2 6
CTDP1 0 0 3 3 0 6
CTSD 0 0 0 3 3 6
DEPDC5 0 0 1 5 0 6
DNAAF1 0 0 1 1 4 6
DTNBP1 0 0 1 3 2 6
DYSF 0 0 1 3 2 6
EP300 0 0 1 5 0 6
EYA4 0 0 0 5 1 6
FANCB 0 0 1 3 2 6
FANCD2, LOC107303338 0 0 1 4 1 6
FANCI 1 0 0 5 0 6
FGFR1 0 1 1 4 0 6
FLT4 0 0 1 4 1 6
FSCN2 0 0 1 5 0 6
GBE1 1 0 1 2 2 6
GIGYF2 0 0 0 0 6 6
GNPTAB 2 0 0 0 4 6
GRIN2A 0 0 0 6 0 6
HPS1 1 0 1 2 2 6
HRAS, LRRC56 1 0 0 2 3 6
HSALR1, PIEZO1 0 0 0 3 3 6
INO80 0 0 1 5 0 6
INVS 0 0 1 3 2 6
IQCB1 0 0 0 2 4 6
KDM6A 0 0 2 3 1 6
KIF11 0 0 0 5 1 6
KIF1C 0 0 3 3 0 6
KMT2A 0 0 0 6 0 6
LAMB2 0 0 0 6 0 6
LOC107303340, VHL 5 0 0 1 0 6
LOC107982234, WT1 0 0 0 4 2 6
LOC110121269, SCN5A 0 1 2 1 2 6
LOC126806421, TTN 0 0 0 5 1 6
LOC126860392, RP1 1 0 2 3 0 6
LTBP3 0 0 0 6 0 6
MAP3K1 0 0 0 0 6 6
MPDZ 0 0 0 4 2 6
MYOZ1 0 0 3 3 0 6
NEXMIF 0 0 1 5 0 6
NF2 3 1 0 1 1 6
NPHP1 0 1 0 2 3 6
OPHN1 0 0 1 5 0 6
OTC 1 0 0 2 3 6
PEPD 0 0 1 3 2 6
PIK3R1 0 0 2 4 0 6
PINK1 1 0 2 1 2 6
PPA2 0 2 1 3 0 6
PRKG1 0 0 2 4 0 6
PROM1 2 0 1 3 0 6
PSEN1 2 0 0 2 2 6
PTPRQ 2 0 2 2 0 6
RAG1 3 0 0 3 0 6
SAG 0 0 1 4 1 6
SCN2A 0 0 0 5 1 6
SHANK3 1 0 0 4 1 6
SLC12A3 2 1 1 2 0 6
SLC24A1 0 0 1 4 1 6
SLC25A22 0 0 0 6 0 6
SLC7A7 1 1 0 4 0 6
SMARCA2 0 0 0 2 4 6
SPTAN1 0 0 1 5 0 6
STRC 4 0 0 2 0 6
TCTN2 0 0 0 2 4 6
TGFB3 0 0 2 4 0 6
TNFRSF1A 0 0 1 5 0 6
TP53 0 0 0 1 5 6
TRIO 0 0 0 5 1 6
TUBGCP6 0 0 0 5 1 6
WT1 0 0 0 4 2 6
ZEB2 0 0 0 6 0 6
ZNF408 0 0 2 4 0 6
ABCC8 0 0 1 4 0 5
ACE 2 0 0 2 1 5
ACTA2 1 1 0 0 3 5
ADA 2 0 0 3 0 5
AP5Z1 0 0 3 2 0 5
ARL6 1 0 1 2 1 5
ARSB 2 0 0 0 3 5
ASCL1, PAH 0 0 0 2 3 5
BBS7 1 0 0 1 3 5
CACNA1B 0 0 0 4 1 5
CASK 0 0 0 2 3 5
CCDC22 0 0 0 4 1 5
CDH3 0 0 0 4 1 5
CEP164 0 0 1 4 0 5
CERS1, GDF1 1 0 1 1 2 5
CFTR, LOC111674472 3 0 1 1 0 5
CFTR, LOC111674475 5 0 0 0 0 5
CLCN2 0 0 1 2 2 5
CR2 0 0 1 4 0 5
CSF3R 0 0 0 5 0 5
CTNNA1 0 0 0 5 0 5
CTSF 0 0 0 1 4 5
DCX 1 0 2 2 0 5
DDX11 0 1 0 3 1 5
DGKE 0 0 2 3 0 5
DIAPH1 0 0 0 2 3 5
DLAT 0 0 0 3 2 5
DNMT3B 0 0 2 3 0 5
DOCK2 0 0 0 5 0 5
DPP6 0 0 0 4 1 5
EMC1 0 0 0 3 2 5
FA2H 0 0 1 0 4 5
FAT1 0 0 1 4 0 5
FCN3 0 0 2 2 1 5
FERMT3 0 0 1 4 0 5
FGD1 0 0 0 5 0 5
FH 2 0 0 1 2 5
FLNA, LOC107988032 0 0 1 2 2 5
FOXH1 0 0 1 3 1 5
FYCO1 0 0 1 2 2 5
GALNS 0 1 0 1 3 5
GATA2 0 0 1 0 4 5
GBA1, LOC106627981 1 0 2 2 0 5
GFI1 0 0 0 3 2 5
GLB1 1 0 0 1 3 5
GSN 0 0 0 4 1 5
HCN1 0 0 1 4 0 5
HERC2 0 1 4 0 0 5
HEXA 1 0 1 1 2 5
HK1 0 0 1 3 1 5
IFT140, LOC105371046 0 0 1 1 3 5
INTS8 0 0 0 5 0 5
KCNA1 0 0 0 1 4 5
KCNH2 0 0 1 1 3 5
LDB3, LOC110121486 0 0 1 3 1 5
LOC106029312, NCF1 0 0 2 2 1 5
LOC108663996, TBP 0 0 0 1 4 5
LOC126806420, TTN 0 0 2 3 0 5
LOC130065345, PANK2 1 0 0 2 2 5
LRPPRC 0 0 2 3 0 5
MC1R 0 0 1 4 0 5
MFSD8 1 0 1 0 3 5
MID1 0 0 1 1 3 5
MME 0 1 2 2 0 5
NLGN4X 0 0 3 1 1 5
NR2E3 2 0 1 1