ClinVar Miner

Variants from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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
888 161 1167 2718 3595 8529

Gene and significance breakdown #

Total genes and gene combinations: 1877
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 4 34 110 461 46 655
BRCA2 100 4 14 32 50 200
BRCA1 74 3 6 19 24 126
RYR2 2 0 18 71 18 109
MYBPC3 23 2 23 25 15 88
DSP 4 4 14 33 20 75
MYH6 0 0 19 46 8 73
MYH7 11 3 15 23 17 69
LDLR 32 5 1 10 14 62
SCN5A 5 0 11 40 4 60
DMD 1 0 5 38 15 59
CFTR 40 0 5 10 3 58
APOB 1 0 4 21 27 53
LAMA4 0 0 8 30 12 50
ATM 9 3 18 7 11 48
RBM20 2 1 7 30 5 45
SYNE1 0 0 11 14 19 44
MSH6 10 1 8 11 12 42
ABCC9 0 1 7 26 6 40
PKP2 9 0 10 13 4 36
ACTN2 0 0 7 22 6 35
PRDM16 0 0 15 20 0 35
CHEK2 5 4 19 4 1 33
LDB3 0 0 11 21 1 33
APC 7 0 1 16 8 32
MLH1 10 0 6 9 6 31
MYPN 0 0 8 20 3 31
ADGRV1 0 0 3 9 18 30
FRAS1 0 0 2 5 23 30
JUP 0 0 10 14 6 30
PMS2 9 0 1 6 14 30
VCL 0 0 11 17 2 30
DSG2 0 0 1 20 8 29
NPC1 5 0 1 12 10 28
LMNA 2 3 7 8 7 27
ATM, C11orf65 6 0 10 7 3 26
MSH2 9 1 3 5 8 26
PLEC 1 0 7 13 5 26
HCN4 2 0 10 11 2 25
LRP2 0 0 2 5 18 25
NF1 10 0 2 9 4 25
PCNT 1 0 0 9 15 25
POLG, POLGARF 5 0 3 15 2 25
VPS13A 0 0 1 18 6 25
BRCA1, LOC126862571 15 0 3 3 3 24
DES 1 2 7 7 7 24
DNAH5 0 0 3 0 21 24
BAG3 1 0 2 16 3 22
COL4A1 0 0 1 3 18 22
COL7A1 11 1 3 2 5 22
DSC2 0 2 7 8 5 22
SDHA 2 0 1 10 9 22
DTNA 0 0 6 14 1 21
JPH2 0 0 6 12 2 20
PALB2 6 0 2 9 3 20
SPTA1 0 0 0 0 20 20
TNNT2 3 1 5 8 3 20
TSC2 3 0 2 10 5 20
ALMS1 1 0 0 1 17 19
ATP7B 2 0 2 7 8 19
NEXN 0 0 8 9 2 19
PCSK9 1 0 1 4 13 19
ZNF469 0 0 0 0 19 19
DNAH11 1 0 0 0 17 18
LAMA2 1 0 2 3 12 18
PRKAG2 1 0 2 14 1 18
RAI1 0 0 0 8 10 18
CTNNA3 0 0 5 10 2 17
DOCK6 2 0 3 0 12 17
DYNC2H1 0 0 0 0 17 17
LAMC3 0 0 0 4 13 17
NOTCH1 0 0 3 7 7 17
RP1L1 0 0 0 0 17 17
TMEM43 0 0 1 13 3 17
COL4A2 0 1 2 2 11 16
FLNC 3 1 11 0 1 16
MECP2 6 0 2 7 1 16
ALPK3 2 0 7 5 1 15
ANO5 3 0 2 4 6 15
ASPM 0 0 0 1 14 15
CACNA1A 1 0 1 3 10 15
GAA 0 0 0 0 15 15
KCNT1 0 0 0 6 9 15
MYH3 1 0 1 0 13 15
MYO15A 0 0 0 0 15 15
SETX 0 0 1 3 11 15
TXNRD2 0 0 1 14 0 15
WFS1 0 0 4 2 9 15
ANKRD1 0 0 2 8 4 14
ATP13A2 0 0 0 9 5 14
CDH1 1 0 0 11 2 14
DHCR7 8 0 0 0 6 14
GALC 1 0 1 0 12 14
IDUA 2 0 1 1 10 14
MEFV 1 2 3 0 8 14
NBAS 0 0 2 2 10 14
OBSL1 0 0 0 0 14 14
OTOG 0 0 1 0 13 14
PAH 10 1 0 0 3 14
ABCA4 0 2 1 0 10 13
AKAP9 0 0 0 1 12 13
CSRP3 0 1 7 4 1 13
DOCK8 0 0 2 1 10 13
EVC 0 0 0 1 12 13
LOC126806422, TTN 0 1 3 9 0 13
MUTYH 6 0 0 3 4 13
PKHD1 2 0 2 3 6 13
RET 1 0 0 3 9 13
SPG11 0 0 4 5 4 13
TPM1 2 1 3 6 1 13
VWF 2 1 0 0 10 13
ARSA 6 0 0 0 6 12
FLNA 0 0 4 6 2 12
LOC126861897, MHRT, MYH7 0 1 5 4 2 12
SCN1A 3 0 1 5 3 12
SYNE2 0 0 0 3 9 12
ALK 0 0 0 2 9 11
ARID1B 2 1 0 5 3 11
CALR3 0 0 4 5 2 11
COL11A2 0 0 1 0 10 11
COL2A1 2 0 0 0 9 11
F5 0 0 0 0 11 11
GRIN2B 2 0 0 5 4 11
HDAC4 0 0 2 5 4 11
KMT2D 0 0 2 8 1 11
LAMP2 1 0 0 9 1 11
NOTCH3 0 0 1 0 10 11
SACS 2 0 3 3 3 11
SCN1A, SCN9A 0 0 2 2 7 11
ACTC1, GJD2-DT 0 0 3 4 3 10
ADAMTS2 0 0 0 0 10 10
ATP1A3 1 1 0 6 2 10
AXIN2 0 0 1 6 3 10
CHD7 1 1 0 5 3 10
CLCNKB, LOC106501713 0 0 0 0 10 10
COL6A1 0 0 0 0 10 10
DYSF 0 0 0 0 10 10
FREM1 0 0 0 0 10 10
GLI2 0 0 0 4 6 10
ITPR1 1 0 2 1 6 10
LOC126806430, TTN 0 0 4 6 0 10
LOC126806432, TTN 0 0 0 10 0 10
MCPH1 0 0 0 0 10 10
MYLK 0 0 4 0 6 10
NOTCH2 0 0 0 7 3 10
PMM2 6 0 1 0 3 10
PSEN2 0 0 0 7 3 10
PTCH1 0 0 1 8 1 10
RYR1 0 0 2 1 7 10
SCN2A 2 0 1 2 5 10
SLC6A19 2 1 1 3 3 10
TSC1 2 0 0 5 3 10
TSEN54 1 0 1 0 8 10
UNC13D 1 0 1 3 5 10
A2ML1 0 0 0 3 6 9
ABCC6 1 0 0 1 7 9
ACSF3 0 0 0 1 8 9
ADAMTS17 0 0 0 0 9 9
ADAMTSL2 0 0 0 3 6 9
C3 0 0 1 1 7 9
CACNA1C 0 0 3 2 4 9
CEP290 3 0 1 1 4 9
DHTKD1 0 0 0 1 8 9
DICER1 0 0 0 6 3 9
DNAAF3, TNNI3 0 0 0 0 9 9
EYS 0 0 0 0 9 9
FBN2 0 0 2 3 4 9
FHL1 0 0 3 4 2 9
FLG 2 0 0 4 3 9
GJB2 4 1 1 2 1 9
GLDC 2 1 0 3 3 9
GLI3 2 0 2 0 5 9
JAG1 0 1 3 2 3 9
KIF7 0 0 0 1 8 9
LOC101927055, TTN 0 1 2 4 2 9
LOC114827851, MYH6 0 0 2 4 3 9
LOC126806424, TTN 1 2 0 5 1 9
LRRK2 0 0 0 0 9 9
MYL2 2 0 1 4 2 9
MYO3A 0 0 0 0 9 9
NBN 0 0 2 1 6 9
OTOGL 0 0 0 0 9 9
PNPLA6 0 0 0 2 7 9
PTEN 3 1 1 2 2 9
RELN 0 0 1 3 5 9
SCN8A 1 0 0 2 6 9
SGCD 0 0 2 6 1 9
SPTAN1 0 0 2 4 3 9
STK11 1 0 1 6 1 9
TERT 0 0 1 5 3 9
TG 0 0 1 0 8 9
TPO 1 0 0 0 8 9
WNK1 0 0 0 0 9 9
ADCY5 3 0 0 1 4 8
ASAH1 0 0 3 0 5 8
CACNA1H 0 0 0 1 7 8
CACNA1S 0 0 0 0 8 8
CDH23 0 0 2 0 6 8
COL6A2 0 0 1 0 7 8
COQ8A 0 0 0 2 6 8
CP 0 0 2 4 2 8
CPLANE1 1 0 1 1 5 8
CRYAB 0 0 2 5 1 8
DST 0 0 1 1 6 8
FBN1 0 0 3 1 4 8
GRM1 0 0 1 0 7 8
IGHMBP2 1 0 0 0 7 8
LOC126806428, TTN 0 0 2 6 0 8
LOC126861896, MYH6 0 0 2 5 1 8
MED12 2 0 2 1 3 8
MEN1 0 0 1 4 3 8
MIB1 0 2 3 3 0 8
MYH14 0 0 0 0 8 8
NPHP4 0 0 3 0 5 8
PEX1 2 0 1 1 4 8
PLCG2 0 0 3 0 5 8
POLE 0 0 2 5 1 8
PTPN11 7 0 1 0 0 8
PTPRQ 0 0 0 0 8 8
RANBP2 1 0 2 4 1 8
RECQL4 1 0 0 0 7 8
SCARF2 0 0 0 0 8 8
SI 0 0 0 0 8 8
SPG7 4 0 0 1 3 8
TNNI3 3 1 1 3 0 8
TTR 3 0 1 3 1 8
VPS13B 0 0 2 3 3 8
ABCB4 0 0 0 0 7 7
ABCC8 0 0 2 1 4 7
ABCG8 0 0 1 0 6 7
ADAR 0 0 1 6 0 7
ATP2B3 0 0 0 1 6 7
ATR 0 0 2 1 4 7
BBS4 0 0 1 2 4 7
CCDC40 0 0 0 0 7 7
CDON 0 0 0 0 7 7
CERKL 0 0 1 0 6 7
CFTR, LOC111674475 7 0 0 0 0 7
CNGB1 0 0 0 0 7 7
CNTNAP2 0 0 0 1 6 7
COL11A1 0 0 1 0 6 7
COL1A2 0 0 0 1 6 7
COL4A3, MFF-DT 0 0 1 0 6 7
CREBBP 0 0 0 5 2 7
DCHS1 0 0 6 1 0 7
EMD 0 0 3 3 1 7
ERCC2 0 0 3 0 4 7
ERCC6 0 0 2 0 5 7
FGFR3 3 0 0 2 2 7
FN1 0 0 0 1 6 7
GLA, RPL36A-HNRNPH2 0 0 1 6 0 7
KCNQ2 2 0 0 3 2 7
LIPC 0 1 1 0 5 7
LOC110121269, SCN5A 0 1 3 2 1 7
LOC126806421, TTN 0 0 1 6 0 7
LRBA 0 0 4 0 3 7
MET 0 0 1 2 4 7
MHRT, MYH7 0 0 1 4 2 7
NAGLU 2 0 1 1 3 7
NBEAL2 0 1 0 0 6 7
NLRP3 1 0 1 1 4 7
NOD2 0 0 2 2 3 7
NPHS1 2 0 0 1 4 7
NSD1 0 0 0 1 6 7
PLCB1 0 0 0 1 6 7
PLCE1 0 0 0 0 7 7
PSPH 0 0 0 4 3 7
RELN, SLC26A5 0 0 2 0 5 7
SALL1 0 0 0 2 5 7
SERPINA1 3 1 0 0 3 7
SGSH 4 0 1 0 2 7
TCAP 0 0 2 4 1 7
TGM6 0 0 0 0 7 7
TH 0 0 2 5 0 7
USH2A 1 0 0 1 5 7
WDR62 0 0 0 1 6 7
WRN 0 0 0 1 6 7
ABCB11 1 0 1 0 4 6
AIRE 1 0 0 0 5 6
ANKRD11 1 0 0 3 2 6
ATP7A 0 0 1 1 4 6
ATP8B1 1 0 1 1 3 6
CACNA1D 0 0 3 0 3 6
CASR 1 0 1 0 4 6
CC2D2A 1 0 1 1 3 6
CDK5RAP2 0 0 1 0 5 6
CFH 0 0 3 1 2 6
COL5A1 0 0 0 0 6 6
COL6A3 0 0 1 0 5 6
COL9A3 0 0 0 0 6 6
CYP27A1 3 0 0 2 1 6
EIF4G1 0 0 0 2 4 6
EP300 0 2 1 3 0 6
FAH 0 1 0 2 3 6
FBXO7 0 0 1 2 3 6
GBA1, LOC106627981 1 0 3 2 0 6
GRIP1 0 0 0 1 5 6
ILK, TAF10 0 0 4 2 0 6
INF2 0 0 0 1 5 6
LOC126806425, TTN 0 0 2 4 0 6
LOC126806427, TTN 0 0 0 6 0 6
LOC126861898, MYH7 1 2 1 2 0 6
LTBP4 0 0 0 0 6 6
MMUT 0 0 2 1 3 6
MYH9 0 0 1 1 4 6
MYLK2 0 0 0 6 0 6
NRXN1 1 0 1 4 0 6
PCCA 1 0 1 1 3 6
PDE6C 0 0 0 0 6 6
PINK1 1 0 2 1 2 6
PKD1 0 0 1 3 2 6
PLG 0 0 0 0 6 6
PNKP 2 0 0 4 0 6
POLD1 0 0 1 5 0 6
POR 0 0 0 0 6 6
PRX 0 0 0 0 6 6
RNASEH2B 1 0 2 2 1 6
SALL4 0 0 1 0 5 6
SDHB 2 0 1 1 2 6
SLC2A1 1 0 0 2 3 6
SMARCA4 0 0 0 4 2 6
SPINK5 0 0 0 5 1 6
SPTBN2 0 0 2 2 2 6
SRCAP 1 0 0 3 2 6
TAFAZZIN 0 0 0 6 0 6
TBC1D24 0 0 1 5 0 6
TNNC1 0 1 2 3 0 6
TP53 2 0 0 0 4 6
TRAPPC9 0 0 0 0 6 6
TRDN 0 0 0 0 6 6
AARS1 0 0 0 3 2 5
ABCD1 1 0 2 2 0 5
ACAN 0 0 0 0 5 5
AHI1 1 0 1 1 2 5
ALDH3A2 2 0 0 2 1 5
ALG8 2 0 0 0 3 5
ALPL 1 0 0 0 4 5
ANK1 0 0 0 0 5 5
ANO10 0 0 0 1 4 5
AP4B1 1 0 2 1 1 5
ARHGEF10 0 0 0 0 5 5
ASCL1, PAH 0 0 0 2 3 5
ATRIP, ATRIP-TREX1, TREX1 1 0 1 0 3 5
ATRX 0 0 0 3 2 5
AVPR2 1 0 0 1 3 5
BBS12 0 0 0 0 5 5
BBS9 2 0 1 1 1 5
BRIP1 2 0 2 1 0 5
C19orf12 1 0 0 3 1 5
C6 0 1 2 0 2 5
C7 0 0 1 0 4 5
CACNA1B 0 0 0 4 1 5
CAV3, OXTR 0 0 0 5 0 5
CBS 1 0 1 1 2 5
CCDC40, GAA 0 0 0 0 5 5
CCDC88C 0 0 3 2 0 5
CCT5 0 0 0 0 5 5
CFTR, LOC111674472 4 0 1 0 0 5
CPS1 0 0 0 0 5 5
CTC1 0 0 1 1 3 5
DCAF17 0 0 0 0 5 5
DPP6 0 0 0 1 4 5
DUOX2 1 0 0 0 4 5
DUOXA2 0 0 0 0 5 5
FH 2 1 0 2 0 5
FIG4 0 0 0 0 5 5
GATA5 0 0 1 0 4 5
GIGYF2 0 0 0 0 5 5
GNAS 0 0 1 1 3 5
HCN1 0 0 1 3 1 5
HEXA 0 0 1 2 2 5
IDUA, SLC26A1 1 0 0 0 4 5
IGSF1 0 0 0 0 5 5
INPP5E 0 0 0 2 3 5
IRF2BPL 0 0 0 2 3 5
KAT6B 0 0 0 2 3 5
KCNJ5 0 0 0 0 5 5
KDM6A 0 0 0 2 3 5
LOC102724058, SCN1A 1 0 0 2 2 5
LOC108663996, TBP 0 0 0 2 3 5
LOC126806420, TTN 0 0 1 4 0 5
LRP5 1 0 0 0 4 5
MTR 0 0 0 0 5 5
MTTP 0 0 0 3 2 5
MYOZ1 0 0 2 3 0 5
MYOZ2 0 0 1 3 1 5
MYT1L 1 0 0 1 3 5
NLRP7 0 0 1 1 3 5
NTRK1 0 0 0 1 4 5
OFD1 0 0 0 2 3 5
PCLO 0 0 1 0 4 5
PLA2G6 0 0 3 1 1 5
POMT1 0 0 0 0 5 5
PRKCG 0 0 2 0 3 5
PRPH2 0 0 0 0 5 5
PRSS1, TRB 0 2 0 0 3 5
RIT1 3 0 0 0 2 5
SERPINH1 0 0 0 0 5 5
SHANK3 2 0 0 0 3 5
SLC12A6 1 1 0 0 3 5
SLC6A3 0 0 0 3 2 5
SLC6A5 0 0 0 1 4 5
SLC6A8 1 0 1 2 1 5
SLC7A9 0 0 0 0 5 5
SMARCA2 0 0 0 3 2 5
SMPD1 0 0 0 2 3 5
STRC 0 0 0 0 5 5
STXBP1 0 0 0 5 0 5
SUFU 0 0 0 2 3 5
TAF1 0 0 0 4 1 5
TMC8 0 0 0 1 4 5
TPP1 3 0 1 0 1 5
TRIOBP 0 0 0 0 5 5
TUBGCP6 0 0 0 0 5 5
WDR19 0 0 0 2 3 5
WNT10A 1 2 2 0 0 5
ABCA1 0 0 1 1 2 4
ADAMTS18 0 0 0 0 4 4
ALG6 2 0 0 0 2 4
ANK2 0 0 0 1 3 4
ANO3 0 0 1 2 1 4
ARSB 1 0 0 0 3 4
ATP6V0A4 0 0 0 0 4 4
AUTS2 0 0 0 3 1 4
B3GLCT 1 0 0 0 3 4
BCOR 0 0 1 1 2 4
BRAT1 1 0 0 0 3 4
BRWD3 0 0 3 1 0 4
C9 0 0 1 1 2 4
CACNA1F 0 0 1 0 3 4
CASD1, SGCE 1 0 0 2 1 4
CASP10 0 0 0 2 2 4
CASQ2 0 0 0 0 4 4
CCDST, FLG 3 0 0 0 1 4
CDHR1 0 0 0 0 4 4
CDKN2A 1 0 0 2 1 4
CEP164 0 0 0 0 4 4
CHD2 0 0 1 2 1 4
CHRNA4 0 0 1 1 2 4
COL18A1, SLC19A1 0 0 0 0 4 4
COL3A1 0 0 1 0 3 4
CRTAP 0 0 0 0 4 4
CTDP1 0 0 0 1 3 4
CYP11B2, LOC106799834 0 0 0 0 4 4
CYP19A1, MIR4713HG, PIRC66 0 0 0 0 4 4
CYP21A2, LOC106780800 3 0 0 0 1 4
DDC 0 0 0 2 2 4
DDHD1 0 0 0 0 4 4
DLAT 0 0 0 4 0 4
DNAAF1 0 0 1 1 2 4
DNAI2 0 0 0 0 4 4
EFTUD2 0 0 0 0 4 4
EIF2AK3 0 0 0 0 4 4
ENG 0 0 0 2 2 4
F12 0 0 0 2 2 4
FANCD2, LOC107303338 0 0 0 2 2 4
FBP1 0 0 0 0 4 4
FECH 0 0 1 1 2 4
FGF9 0 0 0 0 4 4
FGFR2 0 0 1 0 3 4
FKTN 0 0 0 1 3 4
FLCN 0 0 0 4 0 4
FLNB 0 0 1 1 2 4
FLT4 0 0 0 1 3 4
FLVCR1 0 0 0 0 4 4
FREM2 0 0 0 0 4 4
GARS1 0 0 0 2 2 4
GBE1 1 0 1 0 2 4
GCDH 1 0 0 2 1 4
GNS 1 0 0 1 2 4
GRIN2A 0 0 0 3 1 4
GRM6, ZNF454 0 0 0 0 4 4
IFIH1 0 0 1 3 0 4
KCNA1 0 0 0 0 4 4
KCNH2 1 0 0 1 2 4
KDM6B 0 0 0 3 1 4
KIF1B 0 0 0 0 4 4
LCT 0 0 0 0 4 4
LHB 0 0 0 0 4 4
LOC126806431, TTN 0 0 0 4 0 4
LOC126862264, MEFV 2 1 0 0 1 4
LOC130065345, PANK2 1 0 1 1 1 4
LRSAM1 0 0 0 0 4 4
MAN2B1 0 0 0 1 3 4
MAP3K1 0 0 0 0 4 4
MPI 0 0 0 1 3 4
MYH2, MYHAS 0 0 0 0 4 4
MYL3 0 0 1 3 0 4
MYO5B 0 0 0 1 3 4
NCAPH2, SCO2 1 0 1 2 0 4
NIPBL 0 0 0 2 2 4
NLGN4X 1 0 1 1 1 4
PCDH15 0 0 0 0 4 4
PCDH19 0 0 0 3 1 4
PDHX 0 0 1 0 3 4
PHYH 0 0 1 0 3 4
PNP 0 0 0 0 4 4
PPT1 1 0 0 2 1 4
PRG4 0 0 0 0 4 4
RAD51D, RAD51L3-RFFL 1 0 2 1 0 4
RAG1 3 0 0 0 1 4
RAPSN 1 0 0 0 3 4
RPGRIP1 0 0 0 0 4 4
SELENON 0 0 1 0 3 4
SEMA3A 0 0 0 0 4 4
SLC19A3 0 0 1 2 1 4
SLC22A5 0 1 0 0 3 4
SLC52A3 0 0 0 0 4 4
SLC7A7 0 0 0 1 3 4
SLCO1B1 0 0 0 0 4 4
SON 1 0 0 3 0 4
SOS1 1 0 0 3 0 4
SPRED1 0 0 0 0 4 4
SURF1 2 1 1 0 0 4
SYNGAP1 2 1 0 1 0 4
TBCEL-TECTA, TECTA 0 0 0 0 4 4
TCTN2 0 0 0 0 4 4
TEK 0 0 0 0 4 4
TOR1A 1 0 1 1 1 4
TP63 3 0 0 1 0 4
TTC21B 0 0 1 0 3 4
USH1C 0 0 0 0 4 4
VCAN 0 0 0 2 2 4
VPS33B 0 0 0 2 2 4
ZFYVE26 0 0 0 1 3 4
ACAD9 0 0 0 1 2 3
ACO2 0 0 1 0 2 3
ACTG1 0 0 1 0 2 3
ACVR2B 0 0 0 0 3 3
ADA2 2 0 0 0 1 3
ADGRG1 0 0 0 0 3 3
AFF2 0 0 1 2 0 3
AFG3L2 0 0 0 0 3 3
AGA 0 1 0 0 2 3
AIP 0 0 1 0 2 3
ALDH5A1 0 0 1 1 1 3
ALG13 0 0 0 2 1 3
ALOXE3 2 0 0 0 1 3
ALS2 0 0 0 0 3 3
ALX4 0 0 0 0 3 3
AMER1 0 0 0 3 0 3
AMH 0 0 0 0 3 3
AP4B1, PTPN22 0 0 0 3 0 3
AP4E1 0 0 0 0 3 3
APOC2, APOC4-APOC2 2 0 1 0 0 3
APTX 0 0 0 1 2 3
ARID1A 0 0 1 2 0 3
ARX 0 0 0 2 1 3
ASXL1 0 0 0 1 2 3
ATN1, LOC109461484 0 0 0 2 1 3
ATP2A2 1 0 0 0 2 3
ATP6V0A2 0 0 0 1 2 3
B3GAT3 0 1 0 2 0 3
BBS1, ZDHHC24 0 1 0 0 2 3
BBS2 1 0 0 0 2 3
BCKDHA 0 0 0 0 3 3
BEST1 0 0 0 0 3 3
BEST1, FTH1 0 0 0 1 2 3
BMP4 0 0 1 1 1 3
C5 0 0 0 1 2 3
C8B 1 0 1 0 1 3
CACNA1A, LOC108663985 0 0 0 0 3 3
CACNB4 0 0 2 1 0 3
CCBE1 0 1 0 1 1 3
CEP152 0 0 1 0 2 3
CEP85L, PLN 2 0 0 1 0 3
CFI 0 0 1 0 2 3
CIZ1 0 0 0 3 0 3
CLCN1 0 0 0 0 3 3
CLN5 0 1 0 1 1 3
COG6 0 0 0 0 3 3
COL17A1 1 0 0 2 0 3
COL18A1 1 0 0 0 2 3
COL4A4 0 0 0 0 3 3
COL5A2 0 0 0 0 3 3
COMT 0 0 0 0 3 3
COX10 0 0 0 1 2 3
CPT2 1 1 0 0 1 3
CTNNA1 0 0 0 3 0 3
CYP4V2 0 0 0 0 3 3
DIAPH1 0 0 0 1 2 3
DIAPH3 0 0 0 0 3 3
DLD 0 0 0 1 2 3
DNAAF2 0 0 0 0 3 3
DNAI1 1 0 1 0 1 3
DNMT3B 0 0 2 1 0 3
DPYD 0 1 0 0 2 3
DYNC1H1 0 0 1 2 0 3
EARS2 0 0 0 0 3 3
ELN 0 0 0 1 2 3
ELP1 2 0 0 0 1 3
EYA4 0 0 0 2 1 3
F10 0 0 1 0 2 3
F13B 0 0 0 0 3 3
FGD1 0 0 1 2 0 3
FPGT-TNNI3K, TNNI3K 0 0 2 1 0 3
FUS 0 0 0 1 2 3
G6PD 2 0 0 0 1 3
GABRA1 0 0 0 2 1 3
GALNS 1 0 0 1 1 3
GATAD1 0 0 0 2 1 3
GFI1 0 0 0 2 1 3
GFM1 0 0 0 0 3 3
GLB1 1 0 0 0 2 3
GOSR2, LRRC37A2 1 0 1 0 1 3
GPC3 0 0 0 1 2 3
GRN 0 0 1 1 1 3
GYS2 0 0 0 0 3 3
HCFC1 0 0 0 3 0 3
HERC2 0 0 3 0 0 3
HFE 1 0 1 0 1 3
HK1 0 0 0 0 3 3
HPRT1 0 0 1 1 1 3
HSD17B4 0 0 1 1 1 3
IDS, LOC106050102 0 0 0 1 2 3
IFT140 0 0 0 0 3 3
IL17RA 0 0 1 1 1 3
IMPG2 0 0 0 0 3 3
INVS 0 0 1 0 2 3
IQSEC2 0 0 0 2 1 3
ITGA3 0 0 0 2 1 3
ITGB2 0 0 0 0 3 3
ITGB3 0 0 0 0 3 3
KCNC3 1 0 0 1 1 3
KCNJ11 0 0 0 1 2 3
KCNMA1 0 0 1 0 2 3
KCNQ3 1 0 0 2 0 3
KIAA0586 2 0 1 0 0 3
KIF1A 0 0 1 1 1 3
KRAS 0 0 0 1 2 3
KRT10 0 0 2 1 0 3
KRT18, KRT8, LOC106096416 0 0 0 0 3 3
LDB3, LOC110121486 0 0 0 3 0 3
LEPR 0 0 0 0 3 3
LHCGR, STON1-GTF2A1L 0 0 0 0 3 3
LINC00630, RAB40AL 0 0 1 1 1 3
LMNA, LOC126805877 1 0 1 0 1 3
LOC107982234, WT1 0 0 0 2 1 3
LOC126806067, RYR2 0 0 1 2 0 3
LOC126806423, TTN 0 0 0 2 1 3
LOC126860392, RP1 0 0 0 0 3 3
LOC129935183, TTN 0 0 0 3 0 3
LPIN2 0 0 0 2 1 3
LPL 3 0 0 0 0 3
LRP4 0 0 0 0 3 3
LRPPRC 0 0 1 2 0 3
LTBP2 0 0 1 1 1 3
LZTR1 1 0 1 1 0 3
MACF1 0 0 1 2 0 3
MAP2K2 0 0 0 0 3 3
MAT1A 0 0 0 0 3 3
MBD5 0 0 0 2 1 3
MCCC1 1 0 0 0 2 3
MED17 0 0 0 0 3 3
MLH3 0 0 0 0 3 3
MMACHC 1 0 1 0 1 3
MOCS1 2 0 0 1 0 3
MTRR 0 0 0 0 3 3
MVP-DT, PRRT2 1 0 0 2 0 3
MYH11, NDE1 0 0 0 0 3 3
MYH8, MYHAS 0 0 0 0 3 3
MYO7A 0 0 1 0 2 3
NBEA 0 0 0 3 0 3
NDUFS7 0 1 0 1 1 3
NEB 0 0 0 0 3 3
NFAT5 0 0 2 1 0 3
NHS 0 0 1 2 0 3
NKX2-5 0 0 0 1 2 3
NLRP12 0 0 1 1 1 3
NPC2 0 0 0 3 0 3
NPHP3, NPHP3-ACAD11 2 0 1 0 0 3
NR3C2 0 0 0 0 3 3
OAT 0 0 0 0 3 3
OCA2 1 0 1 0 1 3
OCRL 0 0 0 3 0 3
PAX2 1 0 0 0 2 3
PEPD 0 0 1 1 1 3
PEX16 0 0 0 0 3 3
PEX6 0 0 1 2 0 3
PEX7 2 0 1 0 0 3
PIGN 0 0 0 0 3 3
PIK3R2 0 0 0 0 3 3
PNPLA1 0 0 0 1 2 3
POMGNT1, TSPAN1 1 0 0 0 2 3
POMT2 0 0 1 0 2 3
POT1 0 0 1 0 2 3
PRF1 0 0 2 0 1 3
PROC 1 0 0 0 2 3
PROM1 0 0 0 0 3 3
PRPS1 0 0 1 2 0 3
PRSS12 0 0 0 0 3 3
PSEN1 0 0 0 2 1 3
QDPR 0 0 0 2 1 3
RAD51C 2 0 0 1 0 3
RAF1 1 0 2 0 0 3
RAG2 0 0 2 0 1 3
RHBDF2 0 0 0 0 3 3
RNASEH2C 0 0 0 3 0 3
ROBO1 0 0 3 0 0 3
RUBCN 0 0 0 1 2 3
SCN9A 0 0 1 0 2 3
SCNN1G 0 0 0 0 3 3
SDHD 1 0 0 1 1 3
SEC63 0 0 0 0 3 3
SEPTIN9 0 0 0 0 3 3
SETBP1 1 0 0 1 1 3
SH3BP2 0 0 0 1 2 3
SHANK2 0 0 1 2 0 3
SHROOM4 0 0 0 3 0 3
SKIC3 0 0 1 1 1 3
SLA, TG 0 0 0 1 2 3
SLC12A3 0 0 0 0 3 3
SLC37A4 0 0 1 2 0 3
SLC39A4 0 0 1 0 2 3
SMAD4 0 0 0 3 0 3
SMC1A 0 0 0 3 0 3
SPAST 1 1 0 1 0 3
SPINK1 1 1 1 0 0 3
ST14 0 0 0 0 3 3
STIL 0 0 0 0 3 3
SUMF1 0 0 0 0 3 3
TBX20 0 0 0 1 2 3
TGFBR2 0 0 0 0 3 3
TMEM67 1 0 0 0 2 3
TMPRSS6 0 0 0 0 3 3
TNFRSF13B 0 2 0 1 0 3
TNFRSF1A 0 0 1 0 2 3
TRH 0 0 0 0 3 3
TRPV4 0 0 1 1 1 3
TSHR 0 0 0 0 3 3
TSHZ1 0 0 0 0 3 3
TTPA 1 0 0 0 2 3
UPK3A 0 0 0 0 3 3
VCP 0 0 0 0 3 3
XDH 0 0 1 1 1 3
ZIC3 0 0 2 0 1 3
ABCG5, DYNC2LI1 1 0 1 0 0 2
ABHD12 0 0 1 0 1 2
ACADM 1 0 0 0 1 2
ACAT1 0 0 0 0 2 2
ACTB 0 0 0 0 2 2
ACVRL1 0 0 0 1 1 2
ADAMTS10 0 0 0 0 2 2
ADAMTSL4 0 0 0 0 2 2
ADAR, LOC126805874 0 0 0 1 1 2
AGT 0 0 0 0 2 2
AICDA 0 0 0 0 2 2
ALDH18A1 0 0 0 1 1 2
ALDH4A1 0 0 0 0 2 2
ALDH7A1 0 0 1 1 0 2
ALMS1, LOC126806252 0 0 0 0 2 2
AMT 0 0 0 0 2 2
ANK2, LOC126807137 0 0 0 0 2 2
ANKS6 0 0 1 1 0 2
ANOS1 0 0 0 0 2 2
AP3D1 0 0 0 2 0 2
AP4M1 2 0 0 0 0 2
APOA2 0 0 0 2 0 2
APOB, LOC106560211 0 0 0 1 1 2
APOE 0 0 0 0 2 2
ARHGAP31 0 0 0 1 1 2
ARID1B, LOC115308161 0 0 0 0 2 2
ARL6 0 0 1 1 0 2
ARSL 0 0 0 1 1 2
ASPA, SPATA22 0 0 1 0 1 2
ATL1 0 0 0 0 2 2
ATP2A1 0 0 0 0 2 2
B4GALT7 0 0 0 0 2 2
BARD1 0 0 1 1 0 2
BBS10 1 0 0 0 1 2
BBS7 0 0 0 0 2 2
BFSP2 0 0 2 0 0 2
BIN1 0 0 0 0 2 2
BLM 0 0 0 1 1 2
BTD 0 0 0 1 1 2
C2 0 0 1 0 1 2
C2CD3 0 0 0 2 0 2
C2orf49, FHL2 0 0 0 0 2 2
C9orf72 0 0 0 0 2 2
CACNA1B, LOC100133077 0 0 1 1 0 2
CACNB2 0 0 0 0 2 2
CARD14, SGSH 1 0 0 0 1 2
CATIP, PNKD 0 0 1 1 0 2
CCDC39 0 0 0 1 1 2
CD3E 0 0 0 1 1 2
CD40LG 0 0 0 0 2 2
CDK13 2 0 0 0 0 2
CDKL5 0 0 0 2 0 2
CDKL5, RS1 0 0 0 2 0 2
CDKN1B 0 0 0 2 0 2
CDSN, PSORS1C1 0 0 0 1 1 2
CDT1 0 0 0 0 2 2
CEL 0 0 0 2 0 2
CENPJ 0 0 0 0 2 2
CEP83 1 0 1 0 0 2
CFHR5 0 0 1 1 0 2
CFP 0 0 1 0 1 2
CHAT 0 0 1 0 1 2
CHD7, LOC126860403 0 0 1 1 0 2
CHD8 1 0 0 1 0 2
CHRNG 0 0 1 0 1 2
CLCN2 0 0 0 0 2 2
CLCN7 0 0 0 0 2 2
CLN6 0 0 0 2 0 2
CNGB3 0 0 0 0 2 2
COL1A1 0 0 0 0 2 2
COL6A2, FTCD 0 0 0 0 2 2
COL9A1 0 0 0 0 2 2
COQ2 0 0 0 0 2 2
CPOX 0 0 0 0 2 2
CPT1A 0 0 0 0 2 2
CRELD1 0 0 0 1 1 2
CTNS 0 0 0 0 2 2
CTSA 0 0 0 1 1 2
CTSC 0 0 1 0 1 2
CTSD 0 0 0 2 0