ClinVar Miner

Variants from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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
1455 479 1343 2334 4587 10197

Gene and significance breakdown #

Total genes and gene combinations: 1591
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 9 21 114 216 304 664
BRCA2 53 2 16 122 98 291
BRCA1 44 4 7 46 61 162
MYBPC3 33 9 22 38 33 135
FLNC 0 4 20 38 43 105
MYH7 15 6 23 32 29 105
ATM 9 2 19 36 38 104
USH2A 22 8 35 12 21 98
MYH6 0 0 21 36 38 95
SCN5A 8 3 18 33 31 93
DSP 1 3 19 27 37 87
RYR1 3 3 14 9 55 84
RYR2 1 0 8 23 40 72
NOTCH1 0 0 9 32 24 65
ABCA4 14 13 16 4 16 63
APC 13 0 5 30 15 63
PRDM16 0 0 6 27 23 56
PALB2 3 0 8 31 13 55
KDM6B 0 46 7 0 0 53
MLH1 22 0 5 6 18 51
ATM, C11orf65 4 0 12 19 15 50
RBM20 2 1 7 25 15 50
MSH2 17 3 5 7 16 48
PMS2 10 0 3 10 24 47
EYS 15 0 6 3 22 46
LAMA4 0 0 4 22 19 45
PKP2 9 0 7 15 14 45
LDB3 0 0 12 17 15 44
LMNA 5 4 14 11 10 44
MSH6 11 1 5 8 19 44
DSG2 1 1 4 16 21 43
PKD1 3 1 2 7 30 43
SCN10A 0 0 5 25 13 43
MYPN 0 0 6 15 20 41
VCL 0 0 10 18 13 41
AKAP9 0 0 1 25 14 40
CACNA1C 2 1 3 17 17 40
CHD7 7 2 2 11 18 40
DYNC2H1 6 1 6 0 27 40
TNNT2 5 2 5 11 17 40
VWF 5 0 2 9 22 38
CHEK2 6 2 18 8 3 37
SRCAP 2 29 3 1 1 36
SYNE1 1 0 2 6 27 36
COL4A3, MFF-DT 2 2 2 14 15 35
COL6A3 2 0 1 0 32 35
DSC2 1 1 6 16 11 35
FGFR3 8 0 3 19 5 35
A2ML1 0 0 1 14 19 34
CFTR 18 7 4 3 2 34
COL2A1 8 0 3 2 21 34
ACTN2 0 0 4 16 13 33
PTPN11 25 1 0 6 1 33
COL6A1 4 0 2 4 22 32
ACAN 2 0 8 4 17 31
ANK2 0 0 2 11 18 31
CDH23 2 1 14 4 10 31
NF1 19 3 0 2 7 31
BAG3 0 1 1 15 13 30
COL4A4 2 3 1 17 7 30
JUP 0 0 9 11 10 30
KCNQ1 9 1 3 10 7 30
LAMA2 2 0 1 8 19 30
SLC12A3 7 3 1 3 16 30
WFS1 3 4 3 4 16 30
ALMS1 6 0 1 6 16 29
JPH2 0 0 5 16 7 28
KCNH2 1 2 2 16 7 28
MYO7A 7 5 8 4 4 28
TPM1 3 2 1 16 6 28
CDH1 2 0 0 10 15 27
DES 3 0 6 5 13 27
SDHA 3 1 1 9 13 27
TMEM43 0 0 2 15 10 27
BRIP1 4 0 4 10 8 26
COL11A2 0 1 5 5 15 26
CTNNA3 0 0 5 10 11 26
CEP290 13 1 1 0 10 25
COL11A1 2 0 3 0 20 25
GAA 3 3 2 0 17 25
MYO15A 4 2 3 1 15 25
RP1L1 0 1 3 2 19 25
SCN1A, SCN9A 0 0 4 16 5 25
BRCA1, LOC126862571 7 0 1 7 9 24
SACS 3 0 2 2 17 24
ADGRV1 1 0 7 0 15 23
COL6A2 0 1 3 2 17 23
COL7A1 13 0 0 2 8 23
GJB2 10 1 3 4 5 23
HCN4 1 0 1 10 11 23
LRP2 0 0 2 3 18 23
ABCC9 2 0 2 8 10 22
FLG 4 0 0 2 16 22
POLE 0 0 1 2 19 22
C3 1 0 1 11 8 21
CACNA2D1 0 1 0 8 12 21
MECP2 12 1 1 1 6 21
MUTYH 7 0 4 7 3 21
PAH 13 4 1 0 3 21
SLC26A4 8 1 4 4 4 21
COL4A1 0 1 1 0 18 20
FGFR2 12 0 0 3 5 20
SCN11A 0 0 6 8 6 20
SCN1B 0 0 2 9 9 20
TRPV4 1 0 4 2 13 20
ASPM 2 0 0 0 17 19
CACNA1A 0 1 1 2 15 19
CACNA1S 0 0 1 0 18 19
PRKAG2 0 0 2 6 11 19
SCN8A 0 1 1 11 6 19
DYNC1H1 1 0 4 0 13 18
KDM6B, LOC121587574 0 15 3 0 0 18
LZTR1 2 1 1 4 10 18
MCPH1 0 0 0 0 18 18
MIB1 0 0 3 12 3 18
MYH3 2 0 0 0 16 18
RET 8 0 0 2 8 18
WDR62 0 0 1 0 17 18
OTOG 1 0 3 0 13 17
SETX 2 0 0 0 15 17
TNNI3 5 1 2 6 3 17
TRPM4 0 0 0 3 14 17
CFH 0 0 4 8 4 16
CSRP3 0 1 7 4 4 16
LAMP2 1 0 0 10 5 16
MYH9 1 0 1 4 10 16
TRDN 0 0 1 5 10 16
ACTC1, GJD2-DT 0 1 1 6 7 15
CACNB2 0 0 2 4 9 15
COL9A2 0 0 0 0 15 15
FBN1 2 1 3 8 1 15
GATA4 0 0 0 8 7 15
GLA, RPL36A-HNRNPH2 2 0 0 10 3 15
JAG1 1 0 1 5 8 15
LOC126861896, MYH6 0 0 1 5 9 15
MYLK 0 0 3 2 10 15
NEXN 0 1 6 7 1 15
OBSL1 0 0 0 0 15 15
PDE6B 9 2 3 0 1 15
PTEN 8 1 2 2 2 15
WNK1 1 0 0 0 14 15
ZFYVE26 0 0 1 6 8 15
CLCNKB, LOC106501713 2 0 0 2 10 14
DYSF 1 0 1 1 11 14
LOC110121288, SCN10A 0 0 0 5 9 14
LOC114827851, MYH6 0 0 2 4 8 14
LRP5 0 1 0 3 10 14
PTPRQ 2 0 2 2 8 14
RAD51C 2 1 1 5 5 14
RECQL4 2 0 1 5 6 14
RTEL1, RTEL1-TNFRSF6B 1 0 1 1 11 14
SLC2A1 3 1 0 1 9 14
SOS1 2 1 2 7 2 14
SPG11 1 0 2 1 10 14
STK11 2 0 0 6 6 14
TP53 5 1 1 2 5 14
ZNF469 0 0 0 0 14 14
ACTG1 1 0 3 1 8 13
ANKRD1 0 0 1 5 7 13
CASQ2 0 0 3 4 6 13
CRB1 6 1 4 1 1 13
FH 6 0 0 3 4 13
FLCN 1 0 0 5 7 13
FLNA 1 1 3 6 2 13
LOC126861897, MHRT, MYH7 0 1 5 4 3 13
MET 0 0 0 1 12 13
MYL3 0 0 4 8 1 13
NSD1 0 1 1 1 10 13
OBSCN 0 0 0 10 3 13
RAD51D, RAD51L3-RFFL 2 0 4 3 4 13
RPGR 10 1 1 1 0 13
TBCEL-TECTA, TECTA 0 2 4 3 4 13
TERT 1 1 2 3 6 13
ABCC6 2 0 0 3 7 12
CNGB3 5 0 2 1 4 12
DHCR7 3 2 1 0 6 12
EVC 1 0 0 0 11 12
KIF7 1 0 1 0 10 12
MYH14 0 0 4 2 6 12
MYL2 2 1 1 3 5 12
NPC1 2 0 2 1 7 12
SCN1A 5 1 1 1 4 12
ANKRD11 4 0 0 3 4 11
ATP1A3 4 0 0 2 5 11
BBS12 1 0 1 0 9 11
CALR3 0 0 1 3 7 11
CNGA3 7 2 2 0 1 11
CP 0 0 3 2 6 11
EMD 0 0 3 7 1 11
F5 0 0 0 0 11 11
LOC126806425, TTN 0 0 5 2 4 11
LOC126806427, TTN 0 0 2 2 7 11
MED12 2 0 4 3 2 11
MVK 5 1 0 0 5 11
MYH11 0 0 0 6 5 11
MYH11, NDE1 0 0 0 5 6 11
OTOGL 2 0 0 0 9 11
PCDH15 3 0 2 1 5 11
PLCG2 0 0 0 0 11 11
RHO 4 2 3 1 1 11
SDHB 6 0 0 1 4 11
STRC 4 0 0 1 6 11
TGM6 0 0 1 0 10 11
ADAMTSL2 0 0 0 2 8 10
AIRE 0 0 0 4 6 10
ARSA 1 2 1 0 6 10
ASXL1 0 0 0 0 10 10
BEST1 4 1 2 1 2 10
CACNA1F 1 2 2 1 4 10
CAV3, OXTR 0 0 1 4 5 10
CDK5RAP2 0 0 0 0 10 10
CLCN1 3 0 0 0 7 10
CNGB1 1 1 1 0 7 10
CYP27A1 7 0 0 2 1 10
F8 9 0 0 0 1 10
GARS1 0 0 1 0 9 10
IGHMBP2 3 0 1 1 5 10
LOC126806432, TTN 0 0 0 4 6 10
MEN1 0 3 0 4 3 10
MTHFR 0 0 1 1 8 10
MYO3A 0 0 1 0 9 10
NLRP3 4 0 1 1 4 10
PMM2 7 0 2 0 1 10
PROM1 5 0 2 0 3 10
PRPH2 3 3 0 0 4 10
SI 1 1 0 0 8 10
SMAD4 2 0 0 7 1 10
TBX1 0 0 0 3 7 10
TMPRSS3 3 3 0 0 4 10
TTR 2 0 1 4 3 10
VPS13B 0 1 2 1 6 10
ADCY5 2 1 1 1 4 9
ATL1 0 1 1 1 6 9
ATP7B 1 1 0 0 7 9
CCDST, FLG 2 0 0 3 4 9
CFI 0 0 1 4 4 9
COL9A1 0 0 0 0 9 9
COQ8A 2 0 0 0 7 9
FAT4 0 0 3 0 6 9
FBN2 0 0 2 7 0 9
GRIN2B 3 2 0 0 4 9
IDUA 1 1 0 3 4 9
INF2 0 0 0 0 9 9
KMT2D 1 1 0 1 6 9
LOC126806422, TTN 0 0 1 4 4 9
LOC126806430, TTN 0 0 3 2 4 9
LOXHD1 2 0 4 0 3 9
MHRT, MYH7 0 0 1 4 4 9
MKKS 1 3 0 0 5 9
MYO6 1 0 1 4 3 9
MYOZ2 0 0 2 4 3 9
NPHS1 2 1 1 0 5 9
POLG, POLGARF 5 1 1 1 1 9
RP1 6 0 2 0 1 9
RPGRIP1 4 1 0 0 4 9
SPG7 0 1 2 1 5 9
TAFAZZIN 2 0 0 4 3 9
TCAP 0 0 3 4 2 9
WDR35 1 1 1 0 6 9
ABCG8 0 1 0 2 5 8
ACSF3 0 0 0 0 8 8
BLM 4 0 1 1 2 8
BMPR1A 0 0 1 1 6 8
C2, CFB 0 0 0 3 5 8
CBL 0 0 0 4 4 8
CC2D2A 2 0 1 0 5 8
CERKL 1 0 1 0 6 8
COL4A5 2 0 0 4 2 8
COL9A3 0 0 1 0 7 8
CPS1 0 0 0 0 8 8
DPP6 0 0 0 4 4 8
ELN 0 0 0 6 2 8
ERCC6 1 0 0 0 7 8
FN1 0 0 2 0 6 8
GPD1L 0 0 3 3 2 8
IMPG2 4 0 1 0 3 8
KCNQ2 4 1 0 0 3 8
KRAS 5 0 0 2 1 8
LOC126806421, TTN 0 0 1 3 4 8
LRRK2 0 0 0 0 8 8
MAP2K2 0 0 0 4 4 8
MYLK2 0 0 0 6 2 8
NBEAL2 0 0 0 2 6 8
NBN 0 1 1 0 6 8
NTRK1 0 2 0 0 6 8
PNPLA6 0 0 0 1 7 8
POLD1 0 0 0 3 5 8
SH3TC2 2 1 1 0 4 8
SPRED1 0 0 0 3 5 8
TRIOBP 1 0 3 0 4 8
USH1C 3 0 0 0 5 8
ABCC8 0 1 2 0 4 7
ABCD1 0 1 1 2 3 7
ADA2 3 0 0 0 4 7
ALS2 0 0 0 0 7 7
ATP13A2 0 0 0 0 7 7
ATP1A2 1 0 2 0 4 7
C10orf105, CDH23 2 0 1 1 3 7
CASR 2 0 1 1 3 7
COL1A2 0 1 0 0 6 7
CRYAB 0 0 3 1 3 7
CYP11B2, LOC106799834 1 0 0 2 4 7
FA2H 0 0 1 0 6 7
FHL1 0 0 1 2 4 7
FPGT-TNNI3K, TNNI3K 0 0 1 4 2 7
GLB1 3 0 0 0 4 7
GUCY2D 3 0 3 0 1 7
HGSNAT 3 1 1 0 2 7
KCNQ4 1 0 1 0 5 7
KCNT1 3 0 0 0 4 7
LOC102724058, SCN1A 1 0 1 1 4 7
LRBA 0 0 2 1 4 7
MAPT 0 0 0 0 7 7
MYBPC1 0 0 0 0 7 7
PDGFRB 0 0 1 0 6 7
PLOD1 0 0 0 2 5 7
RAB3GAP2 0 0 1 0 6 7
RPE65 2 1 4 0 0 7
SCN3B 0 0 3 3 1 7
SLC7A9 0 1 1 0 5 7
TSC1 2 0 3 1 1 7
WRN 1 0 0 0 6 7
ABCB11 2 0 0 0 4 6
ABHD12 2 0 2 0 2 6
AHI1 1 0 2 0 3 6
AP4B1 2 0 3 0 1 6
AP5Z1 0 0 3 2 1 6
ARID1B 3 0 0 0 3 6
BBS1, ZDHHC24 3 0 1 0 2 6
BRAF 3 0 0 1 2 6
CBS 1 0 0 3 2 6
CDKN2A 1 0 0 2 3 6
CENPJ 0 0 0 0 6 6
CEP85L, PLN 2 0 0 4 0 6
CFTR, LOC111674472 4 0 1 0 1 6
CFTR, LOC111674475 6 0 0 0 0 6
DICER1 0 0 0 2 4 6
DNM2 1 0 0 1 4 6
EYA1 1 0 1 0 4 6
FGFR1 1 0 0 2 3 6
GATA2 0 0 1 0 5 6
GBE1 1 0 0 0 5 6
GLI2 0 0 0 1 5 6
HDAC4 0 0 0 0 6 6
IQCB1 4 0 0 0 2 6
KIF5A 0 1 3 0 2 6
LOC101927055, TTN 0 1 1 0 4 6
LOC110121269, SCN5A 1 0 1 1 3 6
LOC126861898, MYH7 1 0 2 2 1 6
MED13L 0 1 0 4 1 6
MEFV 1 2 3 0 0 6
NR2E3 5 0 1 0 0 6
PDE6C 0 0 0 0 6 6
PKD1L1 0 0 0 4 2 6
PKHD1 2 1 2 0 1 6
PLCE1 0 0 0 0 6 6
PLG 0 0 0 0 6 6
POMT1 0 0 1 0 5 6
POR 0 0 0 0 6 6
PRPF31 2 0 3 0 1 6
PRX 0 0 0 1 5 6
PTCH1 0 0 1 1 4 6
RAF1 2 0 1 1 2 6
RAI1 0 0 0 0 6 6
SALL4 0 0 0 0 6 6
SEC63 0 0 0 2 4 6
SGSH 2 2 0 0 2 6
SKI 0 0 0 5 1 6
SLC7A7 1 1 0 0 4 6
SMAD3 1 0 3 1 1 6
SNTA1 0 0 0 2 4 6
SOS2 0 0 0 1 5 6
SPAST 2 0 1 3 0 6
SPINK1 1 1 1 1 2 6
SYNE2 0 0 0 5 1 6
TCOF1 0 0 1 1 4 6
TGM1 4 0 0 0 2 6
TRAPPC9 0 0 0 0 6 6
ABCB4 0 0 0 0 5 5
AFG3L2 0 0 1 0 4 5
ANK2, LOC126807137 0 0 0 4 1 5
ANO10 0 0 0 1 4 5
ANO5 0 1 2 0 2 5
ATP6V0A2 0 0 0 0 5 5
ATP6V0A4 0 0 0 0 5 5
ATRX 1 0 0 0 4 5
AVPR2 1 1 0 0 3 5
BAP1 0 0 0 3 2 5
BBS10 3 0 0 0 2 5
BBS9 2 0 1 0 2 5
BEST1, FTH1 0 1 1 0 3 5
BRCA1, LOC111589215 0 0 0 5 0 5
C1QTNF5, MFRP 2 1 0 0 2 5
CDHR1 1 0 0 0 4 5
CERS1, GDF1 1 0 1 1 2 5
CFC1 0 0 0 4 1 5
CFHR5 0 0 1 4 0 5
CRELD1 0 0 0 2 3 5
DMD 0 0 2 2 1 5
DNMT1 0 0 0 0 5 5
EFEMP2 0 0 0 3 2 5
EHMT1 3 0 0 0 2 5
FLT4 0 0 1 1 3 5
GATA5 0 0 0 0 5 5
GATA6 0 0 1 1 3 5
HRAS, LRRC56 2 0 0 2 1 5
KBTBD13 0 0 1 0 4 5
KCNJ5 0 0 0 0 5 5
KIF1A 0 0 0 0 5 5
LCT 0 0 0 0 5 5
LDB3, LOC110121486 0 0 1 1 3 5
LMNA, LOC126805877 1 0 1 1 2 5
LOC126806424, TTN 1 1 0 2 1 5
LOC126806429, TTN 0 0 2 1 2 5
LOC126862902, RYR1 0 0 0 1 4 5
MMACHC 1 1 2 0 1 5
MYH2, MYHAS 1 0 0 0 4 5
NEB 3 0 1 0 1 5
NEBL 0 0 1 3 1 5
NODAL 0 0 2 2 1 5
OCA2 1 2 1 0 1 5
OPA1 1 1 0 1 2 5
OTOF 0 0 0 0 5 5
PDLIM3 0 0 1 3 1 5
RAB3GAP1 1 0 0 1 3 5
RIT1 5 0 0 0 0 5
SCN2A 4 0 1 0 0 5
SDHD 3 0 0 1 1 5
SELENON 0 0 1 0 4 5
SEMA3A 0 0 1 0 4 5
SLC22A5 1 1 0 0 3 5
SUFU 0 0 0 2 3 5
SYNGAP1 5 0 0 0 0 5
TMEM67 1 1 1 0 2 5
TMPRSS6 1 0 0 1 3 5
TOR1A 1 0 1 0 3 5
TRIM63 0 0 0 4 1 5
TSEN54 1 0 0 0 4 5
VCP 3 0 0 0 2 5
ACVR2B 0 0 0 0 4 4
ALK 0 0 0 0 4 4
ASL 1 1 0 2 0 4
ATP2A1 1 0 1 0 2 4
ATP6V1B1 1 0 0 1 2 4
BICD2 1 1 1 0 1 4
BRAT1 1 0 0 0 3 4
C7 0 0 0 2 2 4
CACNA1H 0 0 0 0 4 4
CEP152 0 0 0 0 4 4
CEP164 0 0 0 0 4 4
CFHR3 0 0 0 2 2 4
CFHR4 0 0 0 3 1 4
CHAT 0 1 1 1 1 4
CLN3 2 1 0 0 1 4
COL6A2, FTCD 0 0 0 0 4 4
CREBBP 0 1 0 1 2 4
CTC1 0 0 0 0 4 4
CTNNA1 0 0 0 2 2 4
DCX 1 1 2 0 0 4
DGKE 0 0 2 1 1 4
DNAAF1 1 0 0 0 3 4
DNAAF3, TNNI3 0 0 0 1 3 4
DTNA 0 0 0 2 2 4
EFTUD2 2 0 0 0 2 4
EP300 1 2 0 1 0 4
ESPN 0 0 3 0 1 4
F12 0 0 0 3 1 4
FAM161A 3 0 0 0 1 4
FBP1 0 0 0 0 4 4
FGF9 0 0 0 0 4 4
FOXH1 0 0 1 2 1 4
GALC 3 0 1 0 0 4
GH-LCR, SCN4A 0 0 1 1 2 4
GNA11 0 0 0 0 4 4
GRM6, ZNF454 0 0 0 0 4 4
HCN4, LOC105370890, LOC126862173 0 0 1 3 0 4
IDUA, SLC26A1 1 0 0 0 3 4
IFT122 0 0 0 0 4 4
KCNA1 0 0 0 0 4 4
KCNA5 0 0 0 2 2 4
KCNJ11 0 0 0 0 4 4
KCNQ1, KCNQ1OT1 0 0 0 1 3 4
KMT2A 1 0 0 0 3 4
LARGE1 0 0 0 0 4 4
LDLR 2 1 0 0 1 4
LOC126806068, RYR2 0 0 1 2 1 4
LOC126806423, TTN 0 1 0 1 2 4
LOC126806428, TTN 0 0 1 0 3 4
LOC126806431, TTN 0 0 0 2 2 4
LOC126862264, MEFV 4 0 0 0 0 4
LOC129935183, TTN 0 0 0 0 4 4
MFN2 1 0 0 2 1 4
MMUT 0 1 0 0 3 4
MYT1L 1 0 0 0 3 4
NF2 3 1 0 0 0 4
NKX2-5 0 0 0 3 1 4
NLGN4X 0 1 1 2 0 4
NPHP1 1 0 0 0 3 4
NPHP4 0 0 1 0 3 4
NPHS2 0 1 0 1 2 4
PAX2 1 0 0 0 3 4
PCCA 1 0 1 0 2 4
PNLDC1 4 0 0 0 0 4
POMT2 0 0 0 1 3 4
PRF1 2 0 0 1 1 4
PROKR2 0 0 0 1 3 4
PRSS1, TRB 0 2 0 0 2 4
RAPSN 1 0 0 0 3 4
REEP1 2 0 1 0 1 4
RHBDF2 0 0 0 0 4 4
SATB2 2 2 0 0 0 4
SBDS 3 0 0 0 1 4
SCARF2 0 0 0 0 4 4
SCN4A 0 0 0 2 2 4
SCNN1B 0 0 0 2 2 4
SCNN1G 0 0 0 0 4 4
SERPING1 0 0 0 1 3 4
SHOX 0 0 0 1 3 4
SHROOM3 0 0 0 3 1 4
SLC26A2 2 0 0 0 2 4
SLC34A1 1 0 1 0 2 4
SLC3A1 2 0 0 1 1 4
SLC4A1 1 0 0 0 3 4
SLCO1B1 0 0 0 0 4 4
SNHG14, UBE3A 0 1 0 0 3 4
SPTAN1 0 0 1 0 3 4
STIL 0 0 0 0 4 4
SUMF1 0 0 1 0 3 4
TBX5 0 0 0 2 2 4
TGFB2 1 0 0 3 0 4
TMC8 0 0 0 0 4 4
TMEM127 1 0 0 1 2 4
TP63 3 0 0 0 1 4
TSHZ1 0 0 0 1 3 4
TUBA1A 2 0 0 0 2 4
TYR 3 1 0 0 0 4
WASHC5 0 0 2 0 2 4
WDR19 1 0 0 0 3 4
ACO2 0 0 1 0 2 3
ACTA1 0 0 0 0 3 3
ACTB 0 0 0 1 2 3
ACTN4 0 0 0 0 3 3
AIPL1 1 0 0 1 1 3
ALG6 2 0 0 0 1 3
ALMS1, LOC126806252 0 0 0 0 3 3
ALOXE3 2 0 0 0 1 3
ALPL 1 0 0 1 1 3
ANK2, LOC126807136 0 0 0 2 1 3
ANOS1 0 0 0 2 1 3
AP4M1 1 0 2 0 0 3
ATP8B1 0 0 0 0 3 3
AVP 2 1 0 0 0 3
AXDND1, NPHS2 0 1 0 1 1 3
B3GLCT 0 0 0 0 3 3
BBS1 2 0 0 0 1 3
BBS2 1 0 0 0 2 3
BRWD3 0 0 3 0 0 3
BSCL2, HNRNPUL2-BSCL2 1 0 0 1 1 3
C6 1 0 0 0 2 3
CAPN3 2 1 0 0 0 3
CASD1, SGCE 1 0 0 1 1 3
CD46 0 0 0 0 3 3
CDKL5 2 0 0 0 1 3
CDKL5, RS1 1 0 0 0 2 3
CDT1 0 0 0 1 2 3
CFB 0 0 0 3 0 3
CFHR1 0 0 0 0 3 3
CFP 0 0 1 1 1 3
CHCHD10 0 0 0 0 3 3
CLCN7 0 0 0 0 3 3
COCH, LOC100506071 0 1 0 0 2 3
COLQ 0 0 0 0 3 3
COMT 0 0 0 0 3 3
CPLANE1 2 0 1 0 0 3
CPT2 2 0 0 0 1 3
CRX 1 0 1 1 0 3
CRYBA1 1 1 0 0 1 3
CTNS 0 0 0 0 3 3
CUL7 1 0 0 0 2 3
CYP19A1, MIR4713HG, PIRC66 0 0 0 0 3 3
CYP21A2, LOC106780800 3 0 0 0 0 3
CYP24A1 0 0 0 0 3 3
CYP4V2 0 0 0 0 3 3
CYP7B1 1 1 0 0 1 3
DCTN1 0 0 3 0 0 3
DDHD1 0 0 0 0 3 3
DHTKD1 0 0 0 0 3 3
DOK7 0 0 0 0 3 3
DSPP 1 0 0 0 2 3
EARS2 0 0 0 0 3 3
ENPP1 0 0 0 3 0 3
ERCC6, LOC126860933 1 0 1 0 1 3
F12, SLC34A1 1 0 0 0 2 3
F13B 0 0 0 0 3 3
FANCI, POLG, POLGARF 0 0 0 1 2 3
FGA 1 0 1 0 1 3
FLVCR1 0 0 0 0 3 3
FOXP1 1 2 0 0 0 3
FXN, LOC130001862 1 0 0 0 2 3
GALT 0 1 0 0 2 3
GFM1 0 0 0 0 3 3
GJA1 1 1 0 0 1 3
GJB6 0 0 2 1 0 3
GPHN, RDH12 2 0 1 0 0 3
GRIK2 0 0 1 0 2 3
GRIN2A 0 0 0 1 2 3
GYS2 0 0 0 0 3 3
HEXA 0 0 0 0 3 3
IFT80, TRIM59-IFT80 0 0 1 0 2 3
ITGB3 0 0 0 0 3 3
KAT6B 1 0 0 1 1 3
KCNE1 0 0 0 1 2 3
KCNQ3 1 0 0 0 2 3
KCNV2 2 0 0 0 1 3
KDM5C 0 1 1 0 1 3
KDM6A 0 0 1 0 2 3
KIF1B 0 0 1 1 1 3
LAMA1 3 0 0 0 0 3
LAMA2, LOC123864065 0 0 0 1 2 3
LEFTY2 0 0 0 1 2 3
LHCGR, STON1-GTF2A1L 0 0 0 0 3 3
LMX1B 0 0 0 0 3 3
LOC106029312, NCF1 0 0 2 0 1 3
LOC107303340, VHL 2 0 0 1 0 3
LOC114827850, MYL2 1 0 0 1 1 3
LOC126805765, NEXN 0 0 2 0 1 3
LOC126806420, TTN 0 0 0 0 3 3
LOC126860392, RP1 0 0 0 0 3 3
LOC130056226, SPATA7 1 0 1 0 1 3
LRP4 0 0 0 0 3 3
LTBP2 0 0 1 0 2 3
MAP2K1 1 0 0 0 2 3
MAT1A 0 0 0 0 3 3
MCCC2 1 0 0 0 2 3
MDH2 0 0 0 3 0 3
MMAA 2 0 0 0 1 3
MT-TF 2 0 1 0 0 3
NIPAL4 0 1 0 0 2 3
NIPBL 1 0 0 0 2 3
NPHP3, NPHP3-ACAD11 1 0 0 0 2 3
NR3C2 0 0 0 0 3 3
NSDHL 0 0 1 1 1 3
OAT 0 0 0 0 3 3
PDE6A 0 2 1 0 0 3
PDHX 0 0 0 0 3 3
PEX1 1 1 0 1 0 3
PHKA1 1 0 2 0 0 3
PIGO 0 0 3 0 0 3
PKD2 3 0 0 0 0 3
PNPLA1 0 1 0 0 2 3
POLR3A 1 0 1 1 0 3
PRKCSH 0 0 0 1 2 3
PROC 1 0 0 0 2 3
PRSS12 0 0 0 0 3 3
PSEN2 0 0 0 0 3 3
RARS2 0 0 3 0 0 3
RMRP 1 0 0 0 2 3
RP2 2 0 0 1 0 3
SALL1 0 0 0 0 3 3
SCNN1A 1 0 0 0 2 3
SEC23B 0 0 0 0 3 3
SETD5 1 2 0 0 0 3
SGCD 0 0 0 2 1 3
SHOC2 1 0 0 1 1 3
SIL1 0 0 0 0 3 3
SIX5 0 0 0 1 2 3
SLC2A10 0 0 0 2 1 3
SLC34A3 0 1 0 0 2 3
SMAD6 0 0 0 3 0 3
SMARCA4 0 0 0 1 2 3
SMARCAL1 0 0 1 0 2 3
SNRNP200 0 1 1 0 1 3
SPTBN2 0 0 3 0 0 3
SQSTM1 0 0 1 0 2 3
SURF1 0 1 0 0 2 3
TBC1D24 1 0 1 1 0 3
TBX20 0 0 0 1 2 3
TFR2 0 0 1 2 0 3
TH 0 0 0 0 3 3
TLL1 0 0 1 1 1 3
TMPO 0 0 0 2 1 3
TNNC1 2 0 1 0 0 3
TNXB 1 0 0 1 1 3
TSC2 0 0 1 1 1 3
TTPA 1 0 1 0 1 3
TULP1 0 0 1 0 2 3
TYK2 0 0 0 1 2 3
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 2 0 0 0 3
UMOD 0 0 0 0 3 3
VHL 1 0 0 0 2 3
XIRP2 0 0 1 1 1 3
ZIC3 0 0 2 1 0 3
AARS1 0 0 2 0 0 2
ABCA12 1 0 0 1 0 2
ABCA4, LOC126805793 0 1 1 0 0 2
ACAD8 0 0 0 2 0 2
ACADM 1 0 0 0 1 2
ACADVL 0 0 0 1 1 2
ACAT1 0 0 0 0 2 2
ACBD5 0 0 2 0 0 2
ACTA2 1 0 0 0 1 2
ADA 2 0 0 0 0 2
ADAMTS10 0 0 0 0 2 2
AFG2A 0 2 0 0 0 2
AGT 0 0 0 0 2 2
ALDH3A2 1 0 0 0 1 2
ALDH4A1 0 0 0 0 2 2
ALDH7A1 1 1 0 0 0 2
AMT 2 0 0 0 0 2
APTX 1 0 0 1 0 2
ARMC5 0 0 0 0 2 2
ARSB 2 0 0 0 0 2
ARX 1 0 0 1 0 2
ASXL3 1 0 0 0 1 2
AUTS2 0 0 2 0 0 2
BBS4 0 0 0 0 2 2
BBS5 2 0 0 0 0 2
BIN1 0 0 0 0 2 2
C1S 1 0 0 1 0 2
C4A 0 0 0 1 1 2
C5 0 0 0 0 2 2
C8B 1 0 0 0 1 2
C9 0 0 0 0 2 2
CACNA1D 0 0 0 2 0 2
CALM3 0 0 0 1 1 2
CD2AP 0 0 0 0 2 2
CDAN1 0 0 0 0 2 2
CDC6 0 0 0 0 2 2
CDK13 2 0 0 0 0 2
CFD 1 0 0 0 1 2
CHD2 0 0 2 0 0 2
CHKB-CPT1B, CPT1B 0 0 0 0 2 2
CHRNA1 1 0 1 0 0 2
CHRNG 0 0 1 0 1 2
CIB2 1 0 1 0 0 2
CLN5 0 0 0 0 2 2
CLN6 0 0 1 0 1 2
CLRN1 1 0 1 0 0 2
COL1A1 1 0 1 0 0 2
COL3A1 0 0 0 2 0 2
COL6A3, LOC126806573 0 0 0 0 2 2
CPT1A 0 0 0 1 1 2
CSNK2A1 0 2 0 0 0 2
CYGB, PRCD 1 0 1 0 0 2
CYP11B1 0 0 0 0 2 2
CYP21A2, LOC106780800, TNXB 1 0 0 0 1 2
DARS2 1 0 1 0 0 2
DBH 1 0 0 0 1 2
DCHS1 0 1 1 0 0 2
DDHD2 1 0 0 0 1 2
DDX3X 0 2 0 0 0 2
DEPDC5 1 0 0 1 0 2
DIAPH1 0 0 0 1 1 2
DIAPH3 0 0 0 0 2 2
DLD 0 0 0 0 2 2
DMP1 0 0 0 0 2 2
DMXL1 0 0 2 0 0 2
DNAI1 2 0 0 0 0 2
DOCK8 0 0 2 0 0 2
DSC2, DSCAS 0 0 0 1 1 2
DSE 0 0 0 0 2 2