ClinVar Miner

Variants from Genome Diagnostics Laboratory, University Medical Center Utrecht

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
645 153 504 4537 3041 8877

Gene and significance breakdown #

Total genes and gene combinations: 1724
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 20 21 69 221 107 438
BRCA2 32 2 5 84 78 201
BRCA1 23 1 1 34 41 100
MYBPC3 24 3 17 33 22 98
FLNC 2 1 23 52 19 97
PKD1 4 0 2 40 40 86
RYR2 2 0 5 41 34 82
DSP 4 0 12 33 27 76
MYH7 9 8 14 21 22 74
MYH6 0 0 13 36 21 70
ADGRV1 0 0 1 36 21 58
DSG2 1 1 4 26 21 53
ALMS1 1 2 0 17 32 52
ATM 3 1 5 26 17 52
SCN5A 1 3 6 27 15 52
FRAS1 1 0 1 13 36 51
DMD 1 0 4 25 19 49
LAMA4 0 0 8 24 16 48
NEB 1 0 1 21 25 48
SYNE1 0 0 1 25 21 47
RBM20 1 1 11 19 11 43
PKP2 8 0 6 16 12 42
ABCC9 3 1 3 15 19 41
FLNA 0 0 0 33 6 39
GAA 11 1 2 5 20 39
FBN2 0 0 2 22 14 38
NOTCH1 0 0 9 25 4 38
LMNA 5 5 5 12 10 37
CACNA1A 1 0 0 21 13 35
SYNE2 0 0 0 12 23 35
VCL 0 0 9 16 8 33
MYH11 0 0 4 20 8 32
PKHD1 4 0 1 16 11 32
DSC2 1 1 1 20 8 31
VPS13B 1 0 0 15 15 31
MYLK 0 0 3 15 12 30
PAH 26 0 0 0 4 30
PLCG2 0 0 0 19 11 30
SETX 0 0 0 10 20 30
ACTN2 0 0 8 15 6 29
LDB3 0 0 3 17 9 29
MYPN 0 0 4 15 10 29
ANK2 0 0 1 16 11 28
JUP 0 0 7 9 12 28
MEFV 3 3 9 5 8 28
MYH11, NDE1 0 0 1 18 9 28
RYR1 2 3 4 9 9 27
SLC12A3 7 1 0 2 17 27
CACNA1H 0 0 0 14 12 26
COL4A3, MFF-DT 3 1 0 10 12 26
MECP2 9 0 0 10 7 26
COL5A1 0 0 3 17 5 25
CTNNA3 0 0 8 7 10 25
LYST 0 0 1 18 6 25
NPHP4 0 0 1 11 13 25
TMEM43 0 0 2 14 9 25
NLRP3 4 0 2 7 11 24
RANBP2 0 0 0 20 4 24
AKAP9 0 0 1 16 6 23
DES 0 3 4 9 7 23
DOCK8 1 0 0 8 14 23
FBN1 1 2 2 11 7 23
KCNT1 2 1 0 15 5 23
SPG11 0 0 1 8 14 23
TNNT2 1 3 4 8 7 23
ATP7B 2 2 2 9 7 22
BAG3 0 0 2 13 7 22
CEP290 5 0 0 7 10 22
CFH 0 0 0 14 8 22
COL4A4 3 1 0 5 13 22
SPTA1 0 0 0 0 22 22
AIRE 2 0 0 11 8 21
HCN4 2 0 0 12 7 21
COL5A2 0 0 0 13 7 20
NEXN 0 1 7 9 3 20
POLG, POLGARF 2 0 0 15 3 20
SCN1A, SCN9A 0 0 2 11 7 20
CNTNAP2 0 0 0 7 12 19
MVK 6 0 2 6 5 19
SCN1A 3 0 0 9 7 19
SCN1B 0 0 0 9 10 19
TSC2 0 0 0 6 13 19
ARSA 8 0 2 0 8 18
ELN 0 0 1 11 6 18
KIF7 0 0 0 2 16 18
NPC1 0 1 0 10 7 18
PALB2 2 0 0 12 4 18
POLE 0 0 0 13 5 18
TNXB 0 0 0 16 2 18
ANKRD1 0 0 2 7 8 17
DTNA 0 0 5 5 7 17
FREM1 0 0 3 3 11 17
FREM2 1 0 2 4 10 17
VWF 3 0 0 2 12 17
COL6A3 0 0 0 9 7 16
GLA, RPL36A-HNRNPH2 3 1 1 6 5 16
JPH2 0 0 2 6 8 16
KCNH2 0 1 1 11 3 16
KCNQ2 7 1 0 3 5 16
MSH6 6 0 0 3 7 16
MYH9 0 0 0 9 7 16
PRKAG2 0 0 3 8 5 16
RELN 0 0 0 13 3 16
TPM1 1 1 2 9 3 16
BRCA1, LOC126862571 3 0 2 3 7 15
CACNB2 0 0 0 9 6 15
CASQ2 0 0 2 4 9 15
JAG1 0 0 1 8 6 15
KCNQ1 3 1 2 4 5 15
NOD2 0 0 2 6 7 15
NOTCH2 0 0 0 6 9 15
PLEC 0 0 1 9 5 15
SLC2A1 1 0 0 6 8 15
TRPV4 0 0 0 9 6 15
ATM, C11orf65 2 0 0 8 4 14
C3 1 0 0 10 3 14
CACNA2D1 0 1 1 6 6 14
FIG4 0 0 0 1 13 14
KIF1B 0 0 0 10 4 14
LOC126861896, MYH6 0 0 1 7 6 14
MIB1 0 1 2 10 1 14
NEBL 0 0 0 11 3 14
PMS2 0 0 0 9 5 14
RET 8 0 0 1 5 14
SCN2A 2 1 0 6 5 14
ALG13 0 1 0 11 1 13
BRIP1 2 0 1 5 5 13
CACNA1C 1 1 3 4 4 13
CALR3 0 0 3 5 5 13
CHD7 0 0 0 9 4 13
DYSF 0 0 0 5 8 13
F8 9 0 2 0 2 13
GATA4 0 0 1 7 5 13
GLDC 2 0 0 9 2 13
GPC3 0 0 0 11 2 13
PSTPIP1 2 0 1 6 4 13
RPGRIP1L 0 0 0 8 5 13
TNNI3 2 1 1 6 3 13
VCP 2 1 0 5 5 13
WNK1 0 0 0 7 6 13
COL6A1 1 0 0 4 7 12
DST 0 0 0 12 0 12
KMT2D 1 0 0 10 1 12
LAMP2 1 0 1 9 1 12
MAGEL2 0 0 0 7 5 12
MTOR 0 0 0 12 0 12
MYLK2 0 0 0 9 3 12
NBAS 0 0 0 12 0 12
NPHS1 2 0 1 1 8 12
OFD1 0 0 0 10 2 12
PNKP 1 0 0 8 3 12
RECQL4 1 0 0 11 0 12
SZT2 0 0 0 11 1 12
TTR 2 0 0 5 5 12
ACTC1, GJD2-DT 1 0 2 4 4 11
AXIN2 1 0 0 2 8 11
BBS2 0 0 0 4 7 11
BBS9 2 0 1 1 7 11
CC2D2A 1 0 1 5 4 11
CSRP3 0 1 5 1 4 11
ELP1 0 0 2 5 4 11
HCFC1 0 0 0 8 3 11
HSPG2 0 0 0 7 4 11
IL10RA 0 0 0 8 3 11
INF2 0 0 0 2 9 11
LOC101927055, TTN 0 0 2 2 7 11
LPIN2 0 0 1 8 2 11
MEN1 3 0 1 3 4 11
MSH2 1 0 0 1 9 11
SLC6A8 0 0 0 7 4 11
TERT 0 0 1 7 3 11
WDR19 1 0 0 5 5 11
AARS1 0 0 1 9 0 10
AHI1 1 0 0 2 7 10
ALS2 0 0 0 3 7 10
ATRX 0 0 0 10 0 10
CFTR 3 0 0 5 2 10
COL3A1 1 0 0 7 2 10
CPLANE1 0 0 0 7 3 10
CRB2 1 0 0 8 1 10
DEPDC5 2 0 1 5 2 10
DNMT1 0 0 0 8 2 10
FKTN 1 0 1 1 7 10
GNAS 1 0 0 2 7 10
LRBA 0 0 0 6 4 10
LRP5 0 0 0 8 2 10
MED12 0 0 0 9 1 10
NPHP3, NPHP3-ACAD11 0 0 0 7 3 10
PDLIM3 0 0 1 8 1 10
SDHB 4 1 0 1 4 10
SGCD 0 0 1 6 3 10
STXBP1 3 1 0 5 1 10
TTC21B 1 0 0 1 8 10
UNC13D 0 0 0 5 5 10
AP3B1 0 0 0 6 3 9
APC 0 0 0 3 6 9
CDKL5 1 1 0 4 3 9
CUBN 0 0 0 6 3 9
FHL1 0 0 1 4 4 9
GRIN2A 0 0 0 7 2 9
GRIP1 0 0 0 4 5 9
KIF1A 0 0 0 7 2 9
LEPR 0 0 0 1 8 9
LOC102724058, SCN1A 3 0 0 3 3 9
LOC126862264, MEFV 3 1 1 3 1 9
MET 1 0 0 1 7 9
MHRT, MYH7 0 0 3 2 4 9
MLH1 2 0 0 3 4 9
MVP-DT, PRRT2 3 0 0 5 1 9
MYOZ2 0 0 2 4 3 9
PCDH19 2 0 0 5 2 9
PLCE1 0 0 0 1 8 9
PMM2 5 1 0 2 1 9
PRKDC 0 0 0 7 2 9
SALL1 0 0 0 3 6 9
SCN8A 1 0 0 6 2 9
SON 0 0 0 9 0 9
STAT1 2 0 0 5 2 9
TBX1 0 0 0 3 6 9
TNFRSF1A 1 0 1 5 2 9
TPP1 1 1 1 3 3 9
XDH 0 0 1 5 3 9
ADA2 3 0 0 2 3 8
AR, LOC109504725 0 0 0 2 6 8
BBS10 3 0 0 2 3 8
BBS12 0 0 0 1 7 8
BLM 1 0 0 6 1 8
C2, CFB 0 0 0 2 6 8
CAST, LOC101929710, PCSK1 0 0 0 3 5 8
CFI 0 0 0 4 4 8
CLN3 0 0 1 6 1 8
COL1A1 0 0 0 5 3 8
CRYAB 0 0 2 3 3 8
DICER1 0 0 0 3 5 8
EMD 0 0 1 7 0 8
ENG 2 0 1 3 2 8
EVC 0 0 0 1 7 8
FAT4 0 0 0 7 1 8
HUWE1 0 0 0 8 0 8
INPP5E 0 0 0 3 5 8
IQSEC2 0 1 0 7 0 8
KCNMA1 0 0 0 7 1 8
KCNQ3 1 0 0 4 3 8
KRIT1 6 0 0 1 1 8
LAMB2 0 0 0 6 2 8
LOC107982234, WT1 0 0 0 5 3 8
LOC126806422, TTN 0 0 0 5 3 8
MKKS 1 0 0 3 4 8
MKS1 1 0 0 2 5 8
MRE11 0 0 0 7 1 8
NEB, RIF1 0 1 0 4 3 8
PLCB1 0 0 0 3 5 8
PRF1 0 0 3 2 3 8
PTPN11 3 1 1 2 1 8
SBF1 0 0 0 7 1 8
SDHA 0 0 0 4 4 8
SPINK5 0 0 1 3 4 8
TAFAZZIN 0 0 1 6 1 8
TBC1D24 0 0 0 5 3 8
TMEM67 2 0 0 2 4 8
WT1 1 0 0 4 3 8
ACVRL1 1 0 0 1 5 7
ALDH7A1 1 1 0 1 4 7
ALPK3 0 0 1 3 3 7
ANKRD11 1 0 0 6 0 7
APOL1 0 0 0 5 2 7
APTX 1 0 0 1 5 7
ARHGEF10 0 0 0 5 2 7
ATP1A3 0 0 0 6 1 7
AVPR2 1 0 0 1 5 7
CASR 1 0 0 1 5 7
CAV3, OXTR 0 0 0 4 3 7
CHEK2 4 0 1 1 1 7
COL4A5 2 0 0 2 3 7
DHCR7 3 0 0 2 2 7
EPG5 0 0 0 5 2 7
FLCN 0 0 1 1 5 7
FUS 1 0 0 2 4 7
HNF1B 1 0 0 4 2 7
IL17RC 0 0 0 7 0 7
ITPR1 0 0 0 7 0 7
KCNC3 1 0 0 2 4 7
LOC107303340, VHL 6 0 0 1 0 7
LOC126806425, TTN 0 1 1 2 3 7
MC4R 4 0 0 1 2 7
MYH3 0 0 0 6 1 7
MYL3 0 0 3 3 1 7
NLRP1 0 0 0 7 0 7
NLRP12 0 0 0 2 5 7
PIEZO1 1 0 0 5 1 7
PKD2 4 0 0 1 2 7
PLOD1 0 0 2 5 0 7
PRDM16 0 0 1 5 1 7
RTEL1, RTEL1-TNFRSF6B 0 0 0 6 1 7
SACS 0 0 0 5 2 7
SLC19A3 0 0 0 3 4 7
SLC2A10 0 0 0 4 3 7
SYN1 0 0 0 7 0 7
TBCE 0 0 1 2 4 7
TGFB3 0 0 3 3 1 7
TNFAIP3 0 0 0 7 0 7
TRIM63 0 0 0 4 3 7
TSC1 0 0 0 4 3 7
TTC7A 0 0 0 6 1 7
VRK1 0 5 0 2 0 7
WDPCP 1 0 0 2 4 7
ABCC6 1 0 0 4 1 6
ANO5 1 0 0 1 4 6
ATP1A2 0 0 1 3 2 6
CACNA1S 0 0 0 4 2 6
CAPN3 1 0 0 3 3 6
CBL 0 0 0 4 2 6
CPS1 0 0 0 2 4 6
CREBBP 0 0 0 6 0 6
CTDP1 0 0 2 2 2 6
CTSD 0 0 0 2 4 6
DBT 0 0 0 2 4 6
DNM2 1 0 0 3 2 6
DYNC1H1 0 0 0 6 0 6
FAS 2 0 0 3 1 6
FAT1 0 0 1 4 1 6
FGD1 0 0 0 5 1 6
FH 1 0 0 1 4 6
GFI1 0 0 0 4 2 6
GLI3 0 0 0 2 4 6
GRIN2B 2 0 0 2 2 6
IFIH1 0 0 0 6 0 6
IGHMBP2 1 1 0 3 1 6
IL12RB1 0 0 0 6 0 6
IL17RA 0 0 0 5 1 6
ILK, TAF10 0 0 2 3 1 6
IRF2BPL 0 0 0 6 0 6
KANK1 0 0 0 4 2 6
KARS1 0 0 1 2 3 6
KDM5C 0 0 0 5 1 6
LAMA2 0 0 0 2 4 6
LOC110121269, SCN5A 0 0 2 2 2 6
LOC126806420, TTN 0 0 1 3 2 6
LOC126806421, TTN 0 0 1 3 2 6
LOC126806424, TTN 0 1 1 3 1 6
LRP2 0 0 0 5 1 6
LTBP3 0 0 0 6 0 6
MAPT 0 0 0 2 4 6
MTHFR 0 0 0 3 3 6
MYOT, PKD2L2-DT 0 0 0 4 2 6
NKX2-5 0 0 0 2 4 6
PAX2 1 0 0 1 4 6
PKD1L1 0 0 0 4 2 6
PPT1 0 0 0 2 4 6
RPGRIP1 0 0 0 3 3 6
SCN4A 0 0 0 5 1 6
SELENON 0 0 0 2 4 6
SEPTIN9 0 0 0 5 1 6
SH3TC2 1 0 2 2 1 6
SKI 0 0 1 5 0 6
SKIC3 0 0 0 5 1 6
SLC25A22 0 0 0 6 0 6
SLC6A1 1 0 0 5 0 6
SLC6A19 2 0 0 0 4 6
SLC6A5 0 0 0 1 5 6
SMARCAL1 0 0 1 2 3 6
SMC1A 0 0 0 5 1 6
SPTAN1 0 0 0 6 0 6
TCAP 0 0 1 3 2 6
TGFBR2 0 1 0 5 0 6
TRIO 0 0 0 6 0 6
TTC8 1 0 0 3 2 6
ZEB2 0 0 0 5 1 6
ZFYVE26 0 0 0 3 3 6
ABCB11 2 0 0 1 2 5
ABCB4 2 0 0 2 1 5
ACE 2 0 0 2 1 5
AMER1 0 0 0 4 1 5
AMT 2 0 0 2 1 5
ANK1 0 0 0 0 5 5
AP3D1 0 0 0 5 0 5
BBS1, ZDHHC24 2 0 0 1 2 5
CACNB4 0 0 1 2 2 5
CBS 0 0 0 2 3 5
CCM2 1 0 0 0 4 5
CDH1 0 1 0 0 4 5
CFHR3 0 0 0 1 4 5
CFHR5 0 0 0 4 1 5
CLCN2 0 0 0 3 2 5
COL4A1 0 0 0 4 1 5
COL6A2 0 0 0 4 1 5
CTC1 1 0 0 4 0 5
DCHS1 0 0 0 5 0 5
DOCK2 0 0 0 5 0 5
DPP6 1 0 0 1 3 5
DYNC2H1 0 0 0 3 2 5
FAH 0 0 0 2 3 5
FGFR2 1 0 0 0 4 5
GALK1, ITGB4 0 0 0 4 1 5
GATA2 0 0 0 0 5 5
GBE1 1 0 0 1 3 5
HK1 0 0 0 5 0 5
IFT172 0 0 0 2 3 5
INO80 0 0 0 5 0 5
IQCB1 0 0 0 3 2 5
JAK3 0 0 0 5 0 5
KCNE1 1 0 1 3 0 5
LOC126806427, TTN 0 0 0 1 4 5
LOC126861897, MHRT, MYH7 0 0 1 3 1 5
LOC126861898, MYH7 1 0 1 3 0 5
MAN2B1 0 0 0 5 0 5
MFSD8 0 0 0 2 3 5
MYOZ1 0 0 1 4 0 5
NBEA 0 0 0 5 0 5
NEXMIF 0 0 0 4 1 5
NLRC4 0 0 0 3 2 5
NLRP7 0 0 0 2 3 5
NPHP1 1 0 0 1 3 5
OBSCN 0 0 0 3 2 5
OCRL 0 0 0 3 2 5
OPHN1 0 0 0 5 0 5
PAX8 0 0 0 2 3 5
PCCA 0 0 0 4 1 5
PEPD 0 0 0 4 1 5
PIGN 0 0 0 1 4 5
PRKCG 1 0 0 0 4 5
RAG1 1 0 0 4 0 5
RAI1 0 0 0 4 1 5
SERPING1 0 0 0 3 2 5
SH3BP2 0 0 0 3 2 5
SIX5 0 0 0 2 3 5
SLC22A5 2 1 0 1 1 5
SLC29A3 0 0 0 4 1 5
SLC34A3 1 0 0 1 3 5
SLC4A1 1 0 0 0 4 5
SLC7A7 0 1 0 4 0 5
SLC9A6 0 0 0 3 2 5
SLX4 0 0 0 5 0 5
SMAD3 0 0 1 1 3 5
SMAD4 1 0 0 3 1 5
SMPD1 0 0 1 1 3 5
SOS1 0 0 0 5 0 5
SRPX2 0 0 0 4 1 5
TAP1 0 0 0 4 1 5
TARDBP 0 2 0 1 2 5
TGFB2 0 0 0 2 3 5
TMC8 0 0 0 4 1 5
TMPO 0 0 0 3 2 5
VHL 2 0 0 2 1 5
ZNF423 0 0 0 3 2 5
ABCG5, DYNC2LI1 0 0 0 4 0 4
ABCG8 0 0 0 2 2 4
AFG2A 2 3 0 0 0 4
AFG3L2 0 0 0 1 3 4
AGL 0 0 0 4 0 4
ANK2, LOC126807136 0 0 0 4 0 4
ANKRD26 0 0 0 3 1 4
APOB 0 0 0 4 0 4
AR 0 0 0 3 1 4
ARX 0 0 0 3 1 4
ATP6AP2 0 0 0 2 2 4
ATP8B1 1 0 0 1 2 4
BBS5 2 0 0 2 0 4
BLK 0 0 0 3 1 4
C1QA 0 0 0 4 0 4
C6 0 1 0 2 1 4
C9 0 0 0 4 0 4
CACNA1G 0 0 0 3 1 4
CASP10 0 0 0 1 3 4
CEP85L, PLN 1 1 0 1 1 4
CHD2 0 0 0 3 1 4
CHRNA4 0 0 0 2 2 4
CLCNKB, LOC106501713 1 0 0 1 2 4
CLN5 0 0 0 2 2 4
CLN6 0 0 0 4 0 4
CLN8 1 0 0 3 0 4
COL11A1 0 0 0 1 3 4
COL5A1, LOC101448202 0 0 0 1 3 4
COQ2, LOC112997540 0 0 0 0 4 4
CORO1A 0 0 0 4 0 4
CPT2 0 1 0 2 1 4
CR2 0 0 0 4 0 4
CRELD1 0 0 0 2 2 4
CSF3R 0 0 0 4 0 4
CYP11B2, LOC106799834 1 0 0 1 2 4
DCLRE1C 0 0 0 4 0 4
DCTN1 0 0 0 3 1 4
DNMT3B 0 0 0 2 2 4
EFEMP2 0 0 1 1 2 4
EIF2AK3 0 0 0 1 3 4
EVC2 0 0 0 0 4 4
EYA1 0 0 0 1 3 4
EYA4 0 0 0 4 0 4
FCN3 0 0 1 3 0 4
FERMT3 0 0 1 3 0 4
FOXE3, LINC01389 0 0 1 1 2 4
GH-LCR, SCN4A 0 0 0 3 1 4
GLIS3 0 0 0 4 0 4
GRN 0 0 0 3 1 4
GSN 1 0 0 2 1 4
HBA-LCR, NPRL3 0 0 0 4 0 4
HCN1 0 0 0 3 1 4
HNF4A 0 0 0 0 4 4
HPS5 1 0 0 1 2 4
IKBKG 0 0 1 2 1 4
IL1RN 1 0 0 1 2 4
INSR 0 0 0 4 0 4
INTS8 0 0 0 4 0 4
IRF7 0 0 0 4 0 4
IRF8 0 0 0 3 1 4
IRS4 0 0 0 1 3 4
ITGB2 0 0 0 4 0 4
ITGB4 0 0 0 2 2 4
ITK 0 0 0 2 2 4
KATNIP 0 0 0 4 0 4
KCND3 0 0 0 4 0 4
KCNJ5 0 0 0 1 3 4
KIAA0586 2 0 0 2 0 4
KIF5A 0 0 0 4 0 4
LHB 0 0 0 0 4 4
LOC114827851, MYH6 0 0 1 2 1 4
LOC126806430, TTN 0 0 0 3 1 4
LRSAM1 0 0 0 3 1 4
MFN2 0 0 0 3 1 4
MPL 1 0 0 3 0 4
MTMR2 0 0 0 1 3 4
MTR 0 0 0 2 2 4
MTTP 0 0 0 1 3 4
MYL2 0 1 0 0 3 4
MYO5B 0 0 1 0 3 4
NCF2 0 0 0 2 2 4
NCR1, NLRP7 0 0 0 2 2 4
NEK1 0 0 0 3 1 4
NPHS2 1 0 0 0 3 4
NRXN1 0 0 0 4 0 4
OBSL1 0 0 0 3 1 4
PCCB 0 0 1 3 0 4
PEX1 1 0 0 2 1 4
PKLR 2 0 0 0 2 4
PLG 0 0 0 4 0 4
POT1 0 0 0 4 0 4
PRICKLE1 0 0 0 1 3 4
PRKG1 0 0 1 2 1 4
PTCH1 0 0 0 1 3 4
PTPRC 0 0 0 4 0 4
ROBO2 0 0 0 2 2 4
SCN4B 0 0 1 1 2 4
SEC63 0 0 0 1 3 4
SLC12A6 0 0 0 4 0 4
SLC1A3 0 0 0 4 0 4
SMAD6 0 0 1 3 0 4
SNHG14, UBE3A 0 0 0 2 2 4
SNTA1 0 0 1 2 1 4
SOX9 0 0 0 1 3 4
SPAST 2 0 0 1 1 4
STXBP2 1 0 0 2 1 4
SYNGAP1 1 0 0 2 1 4
SYNJ1 0 0 0 4 0 4
TCF3 0 0 0 4 0 4
TGM1 3 0 0 1 0 4
TNFRSF13B 1 1 0 2 0 4
VPS33B 0 0 0 2 2 4
WASHC5 0 0 3 0 1 4
WNT10A 3 0 1 0 0 4
WWOX 0 0 0 4 0 4
ZIC3 0 0 1 2 1 4
ABCB6 0 0 0 3 0 3
ACTA1 0 0 0 0 3 3
ACTN4 0 0 0 0 3 3
ACVR2B 0 0 0 1 2 3
ADA 0 0 0 3 0 3
ADAR 0 0 0 3 0 3
ADSL 0 0 0 3 0 3
ALG1 0 1 0 2 0 3
ALK 0 0 0 0 3 3
AP4B1, PTPN22 0 0 0 3 0 3
ASPM 2 0 0 1 0 3
ATP2A1 1 0 0 0 2 3
ATP2A2 0 0 1 1 1 3
ATP6V1B1 1 0 0 0 2 3
ATRIP, ATRIP-TREX1, TREX1 0 0 0 2 1 3
AUTS2 0 0 1 1 1 3
AVP 3 0 0 0 0 3
AXDND1, NPHS2 1 0 0 0 2 3
BACH2 0 0 0 3 0 3
BBS1 1 0 0 0 2 3
BBS4 1 0 0 2 0 3
BGN 0 0 0 3 0 3
BSCL2, HNRNPUL2-BSCL2 1 0 0 2 0 3
BTD 2 0 0 1 0 3
BTK 2 0 0 1 0 3
C1QB 0 0 0 3 0 3
C1S 0 0 0 3 0 3
C5 0 0 0 3 0 3
CACNA1D 0 0 0 2 1 3
CARD14, LOC126862662, SGSH 0 0 0 3 0 3
CARMIL2 0 0 0 3 0 3
CASK 0 0 0 2 1 3
CD81 0 0 0 3 0 3
CDKL5, RS1 0 0 0 0 3 3
CEP164 0 0 0 3 0 3
CEP41 0 0 0 1 2 3
CERS1, GDF1 0 0 0 1 2 3
CFB 0 0 0 2 1 3
CFHR1 0 0 0 0 3 3
CFHR4 0 0 0 2 1 3
CFP 0 0 0 3 0 3
COG6 1 0 0 0 2 3
COL1A2 0 0 0 2 1 3
CSF2RB 0 0 0 3 0 3
CUL4B 0 0 0 3 0 3
DCX 1 0 0 1 1 3
DDX59 0 0 0 3 0 3
DGAT1 0 0 0 2 1 3
DGKE 0 0 0 2 1 3
DNAH5 0 0 0 2 1 3
DSG2, LOC130062340 0 0 0 1 2 3
EGF 0 0 0 3 0 3
EPCAM 0 1 0 2 0 3
ERCC3 1 0 0 2 0 3
FAN1, MTMR10 0 0 0 2 1 3
FANCA 0 0 0 2 1 3
FCGR2A 0 0 0 3 0 3
FGD4 0 0 1 1 1 3
FGFR1 0 0 0 0 3 3
FGFR3 0 0 0 2 1 3
FLNA, LOC107988032 0 0 0 3 0 3
FOXH1 0 0 0 3 0 3
G6PC1 1 0 0 1 1 3
GALT 0 0 0 0 3 3
GATA6 0 0 0 2 1 3
GJB1 0 1 0 1 1 3
GOSR2, LRRC37A2 1 0 0 0 2 3
GPD1L 0 0 1 1 1 3
GRIA3 0 0 0 1 2 3
HBB, LOC106099062, LOC107133510 2 0 0 0 1 3
HNF1A 0 0 0 0 3 3
HSALR1, PIEZO1 0 0 0 3 0 3
IDUA, SLC26A1 1 0 0 0 2 3
IFRD1 0 0 0 1 2 3
IKBKB 0 0 0 3 0 3
IL2RB 0 0 0 3 0 3
IL7R 0 0 0 1 2 3
INSL6, JAK2 0 0 0 3 0 3
INVS 0 0 0 3 0 3
IRS1 0 0 0 2 1 3
ITGA3 0 0 0 2 1 3
KBTBD13 0 0 1 0 2 3
KCNQ5 0 0 0 3 0 3
KDM6A 0 0 0 2 1 3
KIF7, LOC126862216 0 0 0 1 2 3
KMT2A 0 0 0 3 0 3
LDLR 1 0 0 0 2 3
LIG4 0 0 0 3 0 3
LMNA, LOC126805877 1 0 0 2 0 3
LMOD1 0 0 2 0 1 3
LMX1B 0 0 0 1 2 3
LOC106029312, NCF1 0 0 0 3 0 3
LOC112533672, UNC13D 1 0 0 2 0 3
LOC126806423, TTN 0 1 0 0 2 3
LOC126859690, PKHD1 0 0 0 1 2 3
LOC126862902, RYR1 0 0 0 3 0 3
LOC129935183, TTN 0 0 0 1 2 3
LRP4 0 0 0 3 0 3
MAP3K14 0 0 0 3 0 3
MARS1 0 0 0 3 0 3
MCM4 0 0 0 3 0 3
MED13L 0 0 0 2 1 3
MID1 0 0 0 0 3 3
MMUT 0 0 0 1 2 3
NBN 0 0 0 1 2 3
NCF4 0 0 0 2 1 3
NF1 0 0 0 1 2 3
NHLRC1 1 0 0 1 1 3
NHS 0 0 0 2 1 3
NSDHL 0 0 0 3 0 3
NTRK1 0 0 0 2 1 3
PARN 0 0 0 3 0 3
PCK1 0 0 0 2 1 3
PCSK9 0 0 0 1 2 3
PDYN 0 0 0 2 1 3
PIEZO2 0 0 0 1 2 3
PIGT 0 0 0 3 0 3
PIK3CD 1 0 0 1 1 3
PIK3R1 0 0 0 3 0 3
PLEKHG5 0 0 1 1 1 3
PNPLA6 0 0 0 2 1 3
POLD1 0 0 0 2 1 3
POMT1 0 0 0 3 0 3
PPA2 0 1 0 1 1 3
PSMB8 0 0 0 2 1 3
QARS1 0 0 0 3 0 3
RAG2 0 0 0 3 0 3
RMRP 0 0 0 2 1 3
RNASEH2A 0 0 0 3 0 3
RNASEH2B 1 0 0 2 0 3
ROGDI 0 0 0 2 1 3
RTL1 0 0 0 1 2 3
SBDS 1 0 0 1 1 3
SCARF2 0 0 0 2 1 3
SCN3B 0 0 1 2 0 3
SCN9A 0 0 0 1 2 3
SCNN1B 0 0 0 2 1 3
SDCCAG8 0 0 0 1 2 3
SDHD 2 0 0 0 1 3
SH2B3 0 0 0 3 0 3
SKIC2 0 0 1 2 0 3
SLC12A1 0 0 0 1 2 3
SLC37A4 0 0 0 2 1 3
SLC39A4 0 0 0 2 1 3
SLC3A1 1 0 0 1 1 3
SPTB 0 0 0 1 2 3
SQSTM1 0 0 0 3 0 3
SRCAP 2 0 0 1 0 3
STAT2 0 0 0 2 1 3
STAT5B 0 0 0 2 1 3
STIM1 0 0 0 3 0 3
STRA6 0 0 0 3 0 3
TAP2 0 0 0 2 1 3
TBX5 0 0 0 1 2 3
TCF4 1 0 0 2 0 3
TCIRG1 0 1 0 2 0 3
TFG 0 0 0 2 1 3
TICAM1 0 0 0 3 0 3
TMEM138 0 0 0 2 1 3
TNFRSF11A 0 0 0 3 0 3
TP53 0 0 0 1 2 3
TXNRD2 0 0 0 2 1 3
TYK2 0 0 0 3 0 3
UNC93B1 0 0 0 3 0 3
UNG 0 0 0 3 0 3
UPK3A 0 0 0 0 3 3
WDR1 0 0 0 3 0 3
ZAP70 0 0 0 3 0 3
ABCG5 0 0 0 1 1 2
ACAD9 0 0 0 1 1 2
ACD 0 0 0 2 0 2
ACP5 0 0 0 1 1 2
ADA, LOC107303343 0 0 0 2 0 2
ADAM17 0 0 0 2 0 2
ADAR, LOC126805874 0 0 0 1 1 2
AFF2 0 0 0 0 2 2
AGA 0 0 0 2 0 2
AGPAT2 2 0 0 0 0 2
AICDA 0 0 0 0 2 2
AIP 0 0 0 0 2 2
AIP, LOC130006206 0 0 0 1 1 2
ALG6 1 0 0 1 0 2
ALMS1, LOC126806252 0 0 0 0 2 2
ALOXE3 2 0 0 0 0 2
AMH 0 0 0 0 2 2
ANG, EGILA, RNASE4 0 0 0 1 1 2
ANK2, LOC126807137 0 0 0 2 0 2
AOPEP, FANCC 0 0 0 0 2 2
AP3B2, CPEB1 0 0 0 2 0 2
APOA2 0 0 0 1 1 2
ARFGEF1, CSPP1 0 0 0 2 0 2
ARHGEF1 0 0 0 2 0 2
ARHGEF9 0 0 0 1 1 2
ASAH1 0 0 0 1 1 2
ASL 2 0 0 0 0 2
ATN1, LOC109461484 0 0 0 1 1 2
ATP6V0A4 0 0 0 0 2 2
ATXN1 0 0 0 2 0 2
ATXN1, LOC108663993 0 0 0 1 1 2
ATXN10 0 0 0 2 0 2
ATXN7 0 0 0 2 0 2
B3GAT3 0 0 0 0 2 2
B3GLCT 1 0 0 0 1 2
BBS7 0 0 0 0 2 2
BCOR 0 0 0 0 2 2
BDNF 0 0 0 1 1 2
BMP4 0 0 0 1 1 2
BRWD3 0 0 0 2 0 2
C7 1 0 0 1 0 2
C8A 0 0 0 2 0 2
CACNA1A, LOC108663985 0 0 0 2 0 2
CACNA1B 0 0 0 2 0 2
CALM2 0 0 0 2 0 2
CALM3 0 0 0 0 2 2
CAPN1 0 0 0 1 1 2
CARD14 0 0 0 2 0 2
CARD14, SGSH 0 0 0 1 1 2
CARD9 0 0 0 2 0 2
CASQ2, VANGL1 0 0 0 0 2 2
CAV3 0 0 0 0 2 2
CCDC88C 0 0 0 2 0 2
CCNQ 0 0 0 2 0 2
CD2AP 0 0 0 0 2 2
CD36 1 0 0 1 0 2
CD3E 0 0 0 1 1 2
CD40LG 0 0 0 1 1 2
CD46 0 0 0 0 2 2
CD55 0 0 0 2 0 2
CD59 0 0 0 2 0 2
CDKN1C 0 0 0 0 2 2
CDSN, PSORS1C1 0 0 0 1 1 2
CEP104 0 0 0 1 1 2
CEP120 0 0 0 2 0 2
CEP83 1 0 0 1 0 2
CFC1 0 0 0 2 0 2
CFTR, LOC111674477 0 0 0 0 2 2
CHAT 0 0 0 2 0 2
CHCHD10 0 0 0 2 0 2
CHD7, LOC126860403 0 0 0 1 1 2
CHKB-CPT1B, CPT1B 0 0 0 1 1 2
CIC 0 0 0 2 0 2
CIITA 0 0 0 2 0 2
CLCN1 0 0 0 0 2 2
CLCN7 0 0 0 2 0 2
CLDN19 0 0 0 1 1 2
CLN5, LOC130009913 0 0 0 0 2 2
COL11A2 0 0 0 1 1 2
COQ8A 0 0 0 2 0 2
CRPPA 0 0 0 2 0 2
CSF2RA 0 0 0 2 0 2
CTNS 0 0 0 0