ClinVar Miner

Variants from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

Location: United States — 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
365 165 992 1851 579 3951

Gene and significance breakdown #

Total genes and gene combinations: 1562
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ADGRV1 0 1 8 14 7 30
ALMS1 0 0 8 12 7 27
KMT2D 3 1 8 10 5 27
CFTR 12 4 2 3 3 24
ARID1B 1 0 5 13 4 22
TSC2 1 1 4 10 5 21
MT-ND5 1 0 4 13 2 20
POLG 5 1 5 7 1 19
VPS13B 0 0 4 12 3 19
MT-ATP6 1 0 6 10 1 18
BRCA2 0 0 2 8 7 17
PKHD1 5 0 4 5 3 17
LAMA2 1 0 6 7 2 16
MT-CYB 0 0 2 11 3 16
TTN 1 0 6 8 1 16
CEP290 0 0 9 6 0 15
KCNT1 1 0 3 11 0 15
LAMC3 0 0 5 9 0 14
ANKRD11 0 1 0 11 1 13
COL6A3 1 0 5 4 3 13
MECP2 5 0 1 4 3 13
MT-CO1 0 0 3 8 2 13
MT-ND1 0 0 2 9 2 13
ASPM 0 1 1 6 4 12
FLNA 0 0 2 8 2 12
LRP2 0 0 4 6 2 12
RELN 0 0 2 6 4 12
SCN1A, SCN9A 0 0 3 7 2 12
ZEB2 2 0 0 4 6 12
CACNA1H 0 0 4 7 0 11
HERC2 0 0 3 7 1 11
NF1 2 0 4 2 3 11
RYR1 2 1 6 2 0 11
DNAH11 0 0 2 8 0 10
GLI3 1 0 0 7 2 10
KMT2A 0 1 2 6 1 10
MAGEL2 0 0 1 5 4 10
MT-ND2 0 0 3 5 2 10
SLX4 0 0 1 8 1 10
ACADVL 4 1 3 0 1 9
AHI1 0 0 4 4 1 9
ALPL 6 1 0 1 1 9
ATM 1 0 0 3 5 9
CACNA1A 1 0 2 5 1 9
CC2D1A 0 0 3 6 0 9
CHD7 1 0 2 4 2 9
COG1 0 0 2 6 1 9
CREBBP 1 1 0 2 5 9
DCHS1 0 0 4 4 1 9
DMD 0 0 0 4 5 9
FASTKD2 0 0 3 4 2 9
FBN1 4 0 0 0 5 9
FRAS1 3 0 1 4 1 9
GALT 8 0 0 0 1 9
KIF1A 0 0 6 2 1 9
MT-CO3 0 0 3 4 2 9
SMARCA4 0 0 2 6 1 9
ANK3 0 0 2 6 0 8
ARID1A 1 0 1 5 1 8
BRAT1 1 0 3 4 0 8
CPLANE1 0 1 5 1 1 8
DOCK7 0 1 4 1 2 8
DOCK8 0 1 2 3 2 8
GLDC 0 0 3 5 0 8
GRIN2A 0 2 2 3 1 8
LAMA1 0 0 7 1 0 8
MKS1 0 1 5 2 0 8
PAH 6 0 1 1 0 8
PTPN11 6 0 0 2 0 8
RPGR 0 0 0 6 2 8
RPGRIP1L 0 1 4 2 1 8
ZNF469 0 0 1 4 3 8
ACADM 7 0 0 0 0 7
AGRN 0 0 2 5 0 7
AHDC1 0 0 1 5 1 7
ALDH5A1 2 0 3 1 1 7
BBS9 1 0 2 3 1 7
CBL 1 0 1 4 1 7
CLCN2 0 0 1 6 0 7
COL1A1 0 0 1 3 3 7
COL4A5 3 2 0 1 1 7
DNAH5 0 0 1 6 0 7
DSP 0 0 0 5 2 7
ERCC6 1 0 2 4 0 7
FANCC 2 1 0 4 0 7
FANCI 0 0 0 7 0 7
FMN2 0 0 3 3 1 7
HCFC1 1 0 1 3 2 7
KANK1 0 0 1 6 0 7
KAT6A 0 0 3 4 0 7
KIF7 0 0 4 3 0 7
MED12 0 0 1 5 1 7
MEFV 3 0 1 3 0 7
MT-ND4 1 0 1 5 0 7
NEB 1 0 4 1 1 7
PLEC 0 0 0 6 1 7
RAI1 0 0 1 4 2 7
RERE 0 1 1 3 2 7
SACS 0 0 3 3 1 7
SPG11 0 0 1 5 1 7
SZT2 0 0 2 5 0 7
TCOF1 0 0 0 5 2 7
TRIO 0 0 1 5 1 7
ZNF335 0 1 3 3 0 7
ALG3 0 0 6 0 0 6
APOB 0 0 1 2 3 6
ARHGAP31 0 0 2 4 0 6
ASNS, CZ1P-ASNS 1 2 1 2 0 6
ASXL1 0 0 1 3 2 6
ATP7B 1 1 2 2 0 6
ATR 0 0 1 2 3 6
AUTS2 0 0 1 4 1 6
BTD 3 1 0 1 1 6
CC2D2A 0 1 3 2 0 6
COL18A1, SLC19A1 0 0 1 5 0 6
COL4A1 0 0 1 3 2 6
COL6A2 0 1 1 4 0 6
CUL7 0 0 2 1 3 6
DHCR7 3 0 1 2 0 6
EFHC1 0 0 0 6 0 6
EPG5 0 0 4 1 1 6
FANCA 0 0 2 4 0 6
FANCD2, LOC107303338 0 0 0 3 3 6
GALC 3 0 1 2 0 6
GJC2 0 1 3 2 0 6
GLI2 0 0 0 4 2 6
IFIH1 1 0 3 2 0 6
KANSL1 0 1 0 4 1 6
KCNQ2 2 1 2 1 0 6
MAN1B1 0 0 2 4 0 6
MT-CO2 0 0 1 4 1 6
MT-RNR1 1 0 0 4 1 6
MYH14 0 0 3 3 0 6
MYO7A 0 0 1 3 2 6
NIPBL 0 0 2 4 0 6
NOTCH2 0 0 1 4 1 6
NPHP3, NPHP3-ACAD11 0 0 2 1 3 6
OTOG 0 0 4 1 1 6
PCNT 0 0 0 6 0 6
PDHA1 0 1 1 1 3 6
PEX6 0 1 1 3 1 6
PIGG 0 0 0 3 3 6
PMM2 4 1 1 0 0 6
PNKP 0 1 2 3 0 6
POLR3A 3 0 0 3 0 6
PTCH1 1 0 1 4 0 6
RANBP2 0 0 2 3 1 6
RECQL4 0 1 0 3 2 6
SMPD1 0 0 2 2 2 6
SOS1 1 0 1 3 1 6
SOS2 1 0 2 2 1 6
SRCAP 0 0 1 4 1 6
TCIRG1 0 0 1 1 4 6
TNXB 0 0 2 4 0 6
TRAPPC9 0 1 3 1 1 6
USP9X 1 0 1 3 1 6
WDR62 0 0 0 5 1 6
WDR81 0 0 3 3 0 6
WWOX 0 0 2 4 0 6
ABCA12 0 0 1 1 3 5
ALG1 1 0 2 2 0 5
ALG9 0 0 3 2 0 5
AMACR, C1QTNF3-AMACR 0 0 2 1 2 5
ASL 0 1 2 2 0 5
ATP8A2 0 0 1 4 0 5
ATRX 0 0 3 0 2 5
CHD2 0 0 4 1 0 5
COL11A2 0 0 2 3 0 5
COL18A1 0 0 0 5 0 5
COL3A1 1 0 1 3 0 5
COL6A1 1 0 1 2 1 5
CPS1 0 0 2 3 0 5
CPT2 2 0 2 0 1 5
EHMT1 0 0 0 4 1 5
ERCC4 0 1 2 2 0 5
ETFDH 5 0 0 0 0 5
EVC2 0 0 0 4 1 5
FAT4 0 0 1 4 0 5
FBN2 0 0 0 5 0 5
FGD1 0 0 1 4 0 5
FREM2 0 0 1 1 3 5
G6PD 5 0 0 0 0 5
GBE1 1 0 2 0 2 5
GCDH 3 0 2 0 0 5
GLA, RPL36A-HNRNPH2 2 0 1 1 1 5
HERC1 0 0 1 4 0 5
HSPG2 0 0 1 3 1 5
IGHMBP2 2 0 3 0 0 5
ITGA7 0 0 0 4 1 5
L1CAM 1 0 0 1 3 5
LMNA 1 0 2 1 1 5
LRPPRC 0 0 3 0 2 5
MED13L 0 1 0 4 0 5
MYH7 0 1 3 1 0 5
OBSL1 0 0 1 2 2 5
OPHN1 0 0 1 3 1 5
PCDH19 0 1 1 3 0 5
POMT1 1 1 1 2 0 5
RET 1 0 0 1 3 5
RYR2 0 0 3 1 1 5
SCN2A 1 0 3 1 0 5
SH3PXD2B 1 0 0 3 1 5
STIL 0 0 1 4 0 5
SYNE1 0 1 0 4 0 5
TBX5 1 0 0 3 1 5
TCTN1 0 0 1 3 1 5
TMEM67 1 0 1 3 0 5
TREM2 0 0 0 4 1 5
TTC37 0 0 1 3 1 5
TUBGCP6 0 0 3 2 0 5
VARS2 0 0 2 3 0 5
WFS1 0 1 0 3 1 5
AARS1 0 0 2 2 0 4
AARS2 0 0 2 2 0 4
ACSF3 1 1 2 0 0 4
ADSL 1 1 1 0 1 4
ALDH7A1 2 0 0 2 0 4
ALG12 0 0 2 1 1 4
AMPD1 0 0 2 2 0 4
ANK2 0 0 1 3 0 4
APC 0 0 1 3 0 4
APTX 1 0 0 2 1 4
ARSA 1 0 0 0 3 4
ARSE 0 0 0 1 3 4
ASXL3 0 0 0 3 1 4
ATP6V0A2 0 0 1 1 2 4
BBS12 1 0 0 2 1 4
BCKDHA 2 1 0 0 1 4
CBS 0 0 3 0 1 4
CCDC88C 0 0 3 1 0 4
CEP152 0 0 2 2 0 4
CEP41 0 0 3 1 0 4
CFTR, LOC111674475 4 0 0 0 0 4
CLN3 0 0 3 1 0 4
CNTNAP2 0 0 3 1 0 4
COG7 0 0 3 0 1 4
COL11A1 0 0 1 1 2 4
COQ9 0 0 3 0 1 4
COX10 0 0 2 1 1 4
D2HGDH 0 0 1 3 0 4
DNM1 0 0 1 3 0 4
DUPD1, KAT6B 0 0 0 2 2 4
DYNC2H1 2 0 1 1 0 4
EARS2 0 1 1 2 0 4
EIF2AK3 0 1 1 1 1 4
EOGT 0 0 0 4 0 4
FGFR1 1 0 2 0 1 4
FGFR2 1 0 0 2 1 4
FOXP1 0 0 0 4 0 4
GAMT 0 0 4 0 0 4
GH-LCR, SCN4A 0 1 1 1 1 4
GJB2 2 1 0 0 1 4
GNAS 1 0 1 1 1 4
GNPTAB 1 0 0 3 0 4
HBB, LOC106099062, LOC107133510 4 0 0 0 0 4
HUWE1 0 0 0 1 3 4
IDUA, SLC26A1 0 0 0 1 3 4
KCNJ1 0 0 2 0 2 4
KCNMA1 0 0 0 4 0 4
KCNQ1 1 0 1 2 0 4
KIAA0586 1 1 0 1 1 4
KIAA0753 0 0 1 3 0 4
LOXHD1 0 0 2 0 2 4
LYST 0 0 0 2 2 4
MAN2B1 0 0 1 1 2 4
MEGF8 0 0 0 4 0 4
MILR1, POLG2 0 0 3 0 1 4
MMAB 1 0 1 2 0 4
MMACHC 2 0 1 0 1 4
MPDZ 0 0 2 2 0 4
MT-ATP6, MT-ATP8 0 0 3 1 0 4
MT-ND3 1 0 0 3 0 4
MT-RNR2 0 0 3 1 0 4
NBAS 2 0 1 1 0 4
NSD1 0 1 1 2 0 4
NUBPL 0 0 1 3 0 4
OTOF 0 0 2 2 0 4
PC 0 0 4 0 0 4
PCDH15 0 0 0 3 1 4
PIEZO2 0 0 1 2 1 4
PIGW 0 3 0 1 0 4
PLEKHG2 0 0 2 1 1 4
PMS2 1 0 0 1 2 4
POLE 0 0 1 2 1 4
PPT1 2 0 1 1 0 4
PRKN 1 0 1 1 1 4
PRRT2 1 0 0 2 1 4
RTTN 0 0 0 4 0 4
SALL1 0 0 0 2 2 4
SCN5A 1 0 0 2 1 4
SCN8A 0 1 2 0 1 4
SETD5 0 0 1 3 0 4
SHANK3 0 1 1 2 0 4
SHROOM4 0 0 0 2 2 4
SIL1 0 0 0 4 0 4
SLC22A5 2 1 1 0 0 4
SLC26A4 0 0 0 2 2 4
SLC6A8 0 0 1 1 2 4
SUCLA2 0 0 1 2 1 4
SYNE2 0 0 2 2 0 4
TBC1D24 0 0 1 3 0 4
TBCE 1 0 1 2 0 4
TMEM231 0 0 3 1 0 4
TRPV4 0 0 1 1 2 4
TSC1 0 0 1 1 2 4
TSEN54 1 0 2 1 0 4
TTC7A 0 0 2 2 0 4
UNC80 0 0 0 3 1 4
UPB1 1 0 3 0 0 4
WAS 0 0 0 2 2 4
WDPCP 0 0 1 3 0 4
A2ML1 0 0 0 2 1 3
ABAT 0 0 0 3 0 3
ABCB11 0 0 1 2 0 3
ACAN 0 0 0 2 1 3
ACE 1 1 1 0 0 3
ACOX1 0 1 1 1 0 3
ACSL4 0 0 0 3 0 3
ACTG1 0 0 3 0 0 3
ADAR 0 0 1 2 0 3
ADD3 0 0 2 1 0 3
AFF2 0 0 1 1 1 3
AGL 0 0 1 2 0 3
AGXT 1 1 0 0 1 3
AHCY 1 1 1 0 0 3
ANKRD11, LOC100287036 0 0 0 2 1 3
AOPEP, FANCC 1 0 1 1 0 3
AP4E1 0 0 1 2 0 3
AR 1 1 0 1 0 3
ARFGEF2 0 1 1 1 0 3
ARHGEF6 0 0 0 3 0 3
ASS1 1 0 0 2 0 3
ATIC 0 0 0 3 0 3
ATM, C11orf65 0 0 2 1 0 3
BBS10 0 0 0 3 0 3
BBS2 0 1 1 0 1 3
BBS4 0 1 1 0 1 3
BLM 0 0 1 1 1 3
C12orf60, GUCY2C 0 0 2 1 0 3
CACNA1S 0 0 0 3 0 3
CAMTA1 0 0 0 2 1 3
CASK 0 1 1 1 0 3
CENPF 0 2 1 0 0 3
CERT1 0 0 1 2 0 3
CHRNA4 0 0 2 1 0 3
CHRND 0 0 0 1 2 3
CHRNG 0 0 1 2 0 3
COG6 0 0 1 2 0 3
COL2A1 2 0 0 1 0 3
COL4A2 0 0 0 1 2 3
COL9A2 0 0 3 0 0 3
COQ2 0 0 0 3 0 3
CP 0 0 3 0 0 3
CSPP1 0 0 3 0 0 3
DCLRE1C 1 0 1 1 0 3
DDC 0 0 1 1 1 3
DDX11 0 0 2 1 0 3
DIAPH1 0 0 1 2 0 3
DIP2B 0 0 1 2 0 3
DKC1 1 0 0 1 1 3
DNM2 0 0 1 2 0 3
DOCK6 0 0 2 1 0 3
DOCK6, LOC105372273 0 0 1 2 0 3
DPP6 0 0 1 1 1 3
DUOX2 1 0 0 0 2 3
DVL1 0 0 1 2 0 3
DYSF 1 0 0 1 1 3
EFNB1 2 0 0 0 1 3
EP300 0 0 0 2 1 3
EVI2B, NF1 0 0 0 1 2 3
EXT2 0 0 1 1 1 3
FAM20C 0 0 1 1 1 3
FBXL4 0 3 0 0 0 3
FGFR3 0 0 0 3 0 3
FLNB 0 0 1 2 0 3
FOXG1 0 0 3 0 0 3
GABRB3 0 0 1 2 0 3
GATAD2B 1 0 0 2 0 3
GCK 1 0 0 1 1 3
GFAP 0 0 1 2 0 3
GPSM2 2 1 0 0 0 3
GRM1 0 0 2 1 0 3
HBA-LCR, NPRL3 0 0 0 3 0 3
HDAC4 0 0 0 3 0 3
HDAC6 0 0 0 3 0 3
HEXA 1 0 1 0 1 3
HEXB 0 0 0 1 2 3
HLCS 1 0 0 2 0 3
HYI, SZT2 0 0 0 3 0 3
ITPR1 0 0 0 3 0 3
KAT6B 0 0 1 1 1 3
KDM6A 0 0 0 1 2 3
KNL1 0 1 1 1 0 3
KPTN 1 0 1 1 0 3
KRTAP10-10, TSPEAR 0 0 0 1 2 3
LIFR 0 0 0 2 1 3
LOC102724058, SCN1A 0 0 1 2 0 3
MGME1 0 0 1 2 0 3
MMUT 0 0 3 0 0 3
MOGS 0 0 0 2 1 3
MT-ATP8 0 0 1 2 0 3
MT-ND6 0 0 0 2 1 3
MTO1 0 2 0 1 0 3
MYH3 0 0 0 0 3 3
MYO18B 0 0 3 0 0 3
MYT1L 0 1 0 2 0 3
NDUFS1 1 0 2 0 0 3
NLRP3 0 0 0 2 1 3
NOTCH1 0 1 0 1 1 3
NPC1 0 0 2 1 0 3
NPHP4 0 0 0 3 0 3
OCRL 1 0 1 1 0 3
ORC1 0 0 1 1 1 3
PALB2 0 0 0 2 1 3
PCCA 0 1 0 1 1 3
PEX1 2 0 0 1 0 3
PEX10 0 1 1 1 0 3
PEX12 1 0 1 0 1 3
PEX5 0 0 2 0 1 3
PHF8 0 0 0 3 0 3
PIGA 1 0 0 1 1 3
PIK3R2 0 0 1 1 1 3
PLCB1 0 0 1 2 0 3
PLCG2 0 0 0 2 1 3
PNPLA6 0 1 0 2 0 3
RAG1 1 1 0 0 1 3
RMND1 0 0 1 0 2 3
RNF135 0 0 2 1 0 3
RYR3 0 0 0 2 1 3
SCN10A 0 0 1 1 1 3
SCN1A 0 1 1 1 0 3
SDHA 0 0 1 2 0 3
SDHB 0 0 0 2 1 3
SERAC1 0 1 0 2 0 3
SERPINI1 0 0 0 2 1 3
SETBP1 0 0 0 3 0 3
SGSH 2 0 1 0 0 3
SIK1 0 0 0 2 1 3
SKI 0 0 1 2 0 3
SKIV2L 1 0 1 1 0 3
SLC12A5 0 0 2 1 0 3
SLC12A6 0 0 2 1 0 3
SLC35A1 0 0 1 1 1 3
SLC6A19 1 0 1 1 0 3
SOBP 0 0 0 2 1 3
SOX11 0 0 2 1 0 3
SPAST 0 1 0 1 1 3
SPATA5 0 1 1 0 1 3
SPINK1 0 0 0 2 1 3
SPTAN1 0 0 1 2 0 3
SURF1 0 0 1 0 2 3
SYN1 0 0 1 0 2 3
TBL1XR1 1 0 1 1 0 3
TCF12 1 1 0 0 1 3
TGM1 2 0 0 1 0 3
TMEM216 0 1 0 2 0 3
TNC 0 0 1 2 0 3
TNIK 0 0 1 2 0 3
TPP1 1 0 0 0 2 3
TSFM 0 0 1 2 0 3
UNC13D 1 0 1 0 1 3
USH2A 1 0 0 0 2 3
VWF 1 0 0 1 1 3
WASHC4 0 0 3 0 0 3
AASS 0 0 1 1 0 2
ABCA3 1 0 0 1 0 2
ABCB4 0 0 1 0 1 2
ABCB6 0 0 0 1 1 2
ABCC8 1 0 1 0 0 2
ABCD4 0 0 1 1 0 2
ABHD14A-ACY1, ACY1 0 0 1 1 0 2
ACAT1 1 0 1 0 0 2
ADAT3, SCAMP4 0 0 1 1 0 2
ADNP, DPM1 0 0 0 0 2 2
AIFM1, RAB33A 0 0 2 0 0 2
AIMP1 0 1 0 1 0 2
AIPL1 0 0 1 1 0 2
AIRE 0 0 0 2 0 2
ALDH3A2 0 0 1 1 0 2
ALG2 0 0 0 2 0 2
ALG6 1 0 0 1 0 2
AMER1 0 0 0 2 0 2
AMPD2 0 0 2 0 0 2
AMT 0 0 0 2 0 2
ANO5 0 0 1 1 0 2
AP4B1 0 0 0 2 0 2
ARSB 1 0 0 1 0 2
ARX 0 0 2 0 0 2
ASXL2 0 0 0 2 0 2
ATP1A2 0 0 0 2 0 2
ATP1A3 0 0 1 1 0 2
ATP5F1A 0 0 0 2 0 2
ATPAF2 0 0 1 1 0 2
ATRIP, ATRIP-TREX1, TREX1 0 0 2 0 0 2
AUH 0 0 1 1 0 2
AVPR2 1 0 0 1 0 2
B3GLCT 1 0 0 1 0 2
B4GALNT1 0 0 0 1 1 2
BAG3 0 0 0 2 0 2
BBS1 0 0 1 0 1 2
BBS1, ZDHHC24 1 0 1 0 0 2
BMP1 0 1 0 1 0 2
BRCA1 0 0 1 1 0 2
BRIP1 0 1 0 1 0 2
BRWD3 0 1 0 1 0 2
BTK 0 0 0 1 1 2
CACNA1A, LOC108663985 0 0 0 1 1 2
CASK, GPR82 0 0 0 2 0 2
CCBE1 1 0 0 0 1 2
CCDC22 0 0 0 2 0 2
CCM2 1 0 0 1 0 2
CD320 0 0 0 2 0 2
CDH15 0 0 0 1 1 2
CDH23 0 0 0 2 0 2
CDKL5 1 0 1 0 0 2
CDT1 0 1 1 0 0 2
CENPE 0 0 0 2 0 2
CENPJ 0 0 1 1 0 2
CEP164 0 0 0 1 1 2
CFTR, LOC111674472 1 0 0 1 0 2
CHAT 0 0 0 2 0 2
CHRNB2 0 0 0 2 0 2
CHST3 0 1 1 0 0 2
CLCN1 1 0 0 1 0 2
CLCN4 1 0 0 1 0 2
CLIC2 0 0 0 2 0 2
CLN5 0 0 0 2 0 2
CLN8 0 0 0 1 1 2
CLTCL1 0 0 1 0 1 2
COA8 0 0 0 1 1 2
COG5 0 0 0 2 0 2
COG8 0 0 0 1 1 2
COL5A2 0 0 0 2 0 2
COMP 0 1 0 1 0 2
COQ7 0 0 1 1 0 2
COQ8A 0 0 1 1 0 2
CPT1A 0 0 2 0 0 2
CTC1 0 0 1 1 0 2
CTNS 0 1 0 0 1 2
CTSD 0 0 1 1 0 2
CYC1 0 0 1 1 0 2
DARS1 0 0 2 0 0 2
DBH 0 0 2 0 0 2
DBT 0 0 0 1 1 2
DCPS, GSEC 0 0 1 1 0 2
DDR2 0 0 1 1 0 2
DEPDC5 0 0 0 2 0 2
DLG3 0 0 0 1 1 2
DNA2 0 0 0 2 0 2
DOLK 0 0 1 1 0 2
DPYD 1 0 0 1 0 2
DST 0 0 1 1 0 2
DYRK1A 0 0 0 2 0 2
ECHS1 0 1 1 0 0 2
ECM1 0 0 0 2 0 2
EDA 1 0 0 0 1 2
EIF2B5 1 0 1 0 0 2
ELANE 1 0 0 1 0 2
ELN 0 0 1 0 1 2
EMC1 0 1 0 1 0 2
EPM2A 0 0 1 1 0 2
ERCC2 1 0 1 0 0 2
ERMARD 0 0 2 0 0 2
ESPN 0 0 0 1 1 2
ETFB 0 0 0 1 1 2
EVC 0 0 1 1 0 2
EVI2A, NF1 0 0 0 2 0 2
EXOSC8 0 1 0 0 1 2
EZH2 0 0 1 1 0 2
FANCB 0 0 0 2 0 2
FANCL 0 0 0 2 0 2
FASN 0 0 1 1 0 2
FKBP10 1 0 0 1 0 2
FKRP 1 0 0 1 0 2
FKTN 2 0 0 0 0 2
FLNC 0 0 0 1 1 2
FOXP2 0 0 0 2 0 2
FSCN2 0 0 1 0 1 2
FTO 0 0 1 1 0 2
FTSJ1 0 0 0 2 0 2
FUCA1 0 0 0 2 0 2
GAA 1 0 0 0 1 2
GABRA1 0 0 1 1 0 2
GATA4 0 0 0 0 2 2
GATA6 0 0 1 1 0 2
GDI1 0 0 1 1 0 2
GFM1 0 0 0 1 1 2
GJA1 0 1 0 1 0 2
GLRA1 0 1 0 0 1 2
GLYCTK 0 0 1 1 0 2
GNE 0 0 1 1 0 2
GPC3 0 0 0 2 0 2
GPR101 0 0 0 2 0 2
GRIA3 0 0 0 1 1 2
GRIN1 0 1 0 1 0 2
GRIN2D 0 0 0 2 0 2
GRN 0 0 0 1 1 2
HCN1 0 0 0 2 0 2
HECW2 0 1 1 0 0 2
HGSNAT 0 0 0 2 0 2
HIBCH 1 0 1 0 0 2
HIVEP2 0 0 0 2 0 2
HSD17B3 1 1 0 0 0 2
HSD17B4 0 0 0 1 1 2
IARS1 0 1 0 1 0 2
IGF1R 0 0 0 2 0 2
INPP5E 0 0 2 0 0 2
JAG1 1 0 0 1 0 2
KCNQ3 0 0 0 0 2 2
KDM5C 0 1 1 0 0 2
KIF1B 0 0 0 2 0 2
KIF4A 0 0 1 0 1 2
KIF5A 0 0 1 1 0 2
KLKB1 0 0 0 2 0 2
KMT2A, LOC101929089 1 0 1 0 0 2
KRT5 0 0 0 2 0 2
LAMB1 0 0 1 1 0 2
LARP7, MIR302CHG 0 2 0 0 0 2
LINS1 0 1 0 1 0 2
LOC100507346, PTCH1 0 0 1 1 0 2
LOC101927870, RELN 0 0 1 1 0 2
LOC108281134, SOX3 0 0 0 0 2 2
LRBA 0 0 0 2 0 2
LTBP3 1 1 0 0 0 2
LTBP4 0 0 1 1 0 2
MAP3K1 0 0 1 1 0 2
MAP3K15, PDHA1 0 0 0 1 1 2
MBD5 0 0 0 2 0 2
MCCC1 2 0 0 0 0 2
MED23 0 1 0 1 0 2
METTL23 0 0 0 2 0 2
MFN2 1 0 0 0 1 2
MID1 0 0 0 1 1 2
MKKS 0 0 1 1 0 2
MMAA 0 1 1 0 0 2
MMADHC 0 0 0 2 0 2
MT-ND4L 0 0 0 1 1 2
MT-TH 0 0 2 0 0 2
MT-TQ 0 0 2 0 0 2
MTFMT 1 0 0 1 0 2
MTM1 1 1 0 0 0 2
MTRR 0 0 1 0 1 2
MUSK 0 0 0 2 0 2
MYBPC1 0 0 0 1 1 2
MYCN 0 0 1 1 0 2
MYH2, MYHAS 0 0 1 1 0 2
MYH8, MYHAS 1 0 0 1 0 2
MYH9 0 0 1 1 0 2
MYO15A 0 0 0 2 0 2
MYO3A 0 0 1 1 0 2
MYO5A 0 0 1 1 0 2
NAGS 0 0 0 1 1 2
NARS2 0 0 2 0 0 2
NBN 0 0 0 1 1 2
NDUFA10 0 0 0 2 0 2
NDUFS2 0 0 1 1 0 2
NDUFS8 0 0 2 0 0 2
NDUFV2 0 1 1 0 0 2
NEB, RIF1 0 0 1 1 0 2
NEXMIF 0 0 0 1 1 2
NF1, OMG 0 0 0 2 0 2
NHS 0 0 0 2 0 2
NIN 0 0 1 1 0 2
NKX2-5 0 0 1 1 0 2
NOG 0 0 0 2 0 2
NOTCH3 0 0 0 1 1 2
NPC2 0 0 2 0 0 2
NRXN1 0 0 0 1 1 2
NSUN2 0 0 0 2 0 2
NTRK1 0 0 0 1 1 2
OFD1 0 0 0 1 1 2
PAX1 0 0 1 1 0 2
PCARE 0 0 1 1 0 2
PDE4D 0 0 0 2 0 2
PDGFRB 0 0 0 2 0 2
PDHX 0 0 0 1 1 2
PEX16 0 0 0 2 0 2
PEX19 0 0 0 2 0 2
PEX2 0 0 1 1 0 2
PEX26 0 0 0 2 0 2
PGAP3 0 1 0 1 0 2
PHC1 0 0 0 1 1 2
PHKA2 0 0 0 1 1 2
PHKB 0 0 0 2 0 2
PIEZO1 1 0 0 1 0 2
PIGL 1 0 0 1 0 2
PIGN 2 0 0 0 0 2
PIGT 0 0 1 1 0 2
PIGV 0 0 1 1 0 2
PKLR 1 0 1 0 0 2
PKP2 0 0 0 2 0 2
PLEKHG5 0 0 1 0 1 2
PLP1, RAB9B 0 1 0 1 0 2
PMP22 0 1 1 0 0 2
POGZ 0 0 0 2 0 2
POMGNT2 0 0 0 1 1 2
PRDM16 1 0 1 0 0 2
PRF1 1 0 0 0 1 2
PRKDC 0 0 0 1 1 2
PRSS12 0 0 0 2 0 2
PTEN 2 0 0 0 0 2
RAB3GAP1 0 0 1 1 0 2
RAB3GAP2 0 0 1 0 1 2
RAD50 0 0 1 1 0 2
RAPSN 1 0 0 0 1 2
RBBP8 0 0 1 1 0 2
RBM10 0 0 0 2 0 2
RD3 0 0 1 1 0 2
RIPOR2 0 0 0 2 0 2
RNASEH2C 0 0 2 0 0 2
ROGDI 0 0 0 2 0 2
ROR2 0 0 0 1 1 2
RRM2B 0 0 1 1 0 2
RXYLT1 0 0 1 1 0 2
SCARB2 0 0 1 0 1 2
SCN9A 0 0 1 1 0 2
SCO2, TYMP 0 0 0 1 1 2
SEC24D 0 0 0 2 0 2
SETD2 0 0 1 1 0 2
SETX 0 0 0 2 0 2
SI 0 0 0 2 0 2
SLC16A2 1 0 0 1 0 2
SLC17A5 0 0 2 0 0 2
SLC19A3 1 0 0 0 1 2
SLC2A1 1 0 0 0 1 2
SLC6A1 0 0 1 1 0 2
SLC9A6 0 0 0 1 1 2
SLCO1B3 0 0 1 1 0 2
SMC3 0 0 0 2 0 2
SMO 0 0 0 2 0 2
SMPX 0 1 0 1 0 2
SNAP29 0 0 0 1 1 2
SNHG14, UBE3A 1 0 0 0 1 2
SPECC1L, SPECC1L-ADORA2A 1 0 0 1 0 2
SPR 1 0 0 1 0 2
STS 0 0 0 2 0 2
STXBP2 0 0 0 1 1 2
SUCLG1 0 0 2 0 0 2
SYNGAP1 0 0 0 1 1 2
TCF4 0 0 0 2 0 2
TCN2 1 1 0 0 0 2
TCTN2 0 0 1 1 0 2
TCTN3 0 0 0 2 0 2
TG 0 0 2 0 0 2
THOC2 0 0 0 2 0 2
TKT 0 0 1 1 0 2
TMEM70 1 0 0 1 0 2
TMPRSS6 0 0 0 1 1 2
TNFRSF13B 0 0 0 2 0 2
TREH 0 0 0 2 0 2
TRIOBP 0 1 0 1 0 2
TRIP11 0 0 1 1 0 2
TRMT5 1 0 0 1 0 2
TRPM4 0 0 2 0 0 2
TRPS1 1 1 0 0 0 2
TTC21B 0 0 0 1 1 2
TTI2 0 0 0 2 0 2
TUBA8 0 0 1 1 0 2
VANGL1 0 0 0 2 0 2
VHL 0 0 0 2 0 2
VPS53 0 0 1 1 0 2
WAC 0 0 2 0 0 2
WHRN 0 0 1 1 0 2
YARS2 0 0 1 1 0 2
ZC4H2 0 1 0 1 0 2
ZFYVE26 0 1 0 1 0 2
ZNF81 0 0 0 2 0 2
ABCA4 0 0 0 0 1 1
ABCD1 0 0 0 1 0 1
ABHD5 0 0 0 1 0 1
ACAD9 0 0 0 1 0 1
ACADSB 0 0 1 0 0 1
ACADVL, DLG4 0 0 0 0 1 1
ACO2 0 0 1 0 0 1
ACP5 0 0 0 1 0 1
ACTB 0 0 0 1 0 1
ACTN2 0 0 0 0 1 1
ACVRL1 0 0 1 0 0 1
ADAMTS10 0 0 0 1 0 1
ADAMTS13 0 0 0 0 1 1
ADAMTS18 0 0 0 1 0 1
ADAMTS2 0 0 0 1 0 1
ADAMTSL2 0 0 0 1 0 1
ADGRG6 0 0 0 1 0 1
ADK 0 0 0 1 0 1
ADRA2B 0 0 1 0 0 1
AGA 0 0 0 1 0 1
AK1 0 0 0 1 0 1
AK2 0 0 0 1 0 1
AKAP9 0 0 0 1 0 1
ALDH18A1 0 0 1 0 0 1
ALDH1A3 0 0 0 1 0 1
ALDH5A1, GPLD1 0 0 0 0 1 1
ALDH6A1, BBOF1 0 1 0 0 0 1
ALDOB 1 0 0 0 0 1
ALG11 0 0 0 1 0 1
ALG11, UTP14C 0 0 0 1 0 1
ALG14 0 0 0 1 0 1
ALX4 0 0 1 0 0 1
AMPD3 0 0 0 1 0 1
ANGPT2, MCPH1 0 0 0 1 0 1
ANGPTL3, DOCK7 0 0 0 1 0 1
ANK1 0 0 0 1 0 1
ANKLE2 0 0 1 0 0 1
ANO3, MUC15 0 0 0 1 0 1
ANTXR1 0 0 0 1 0 1
AP1S2 0 0 0 1 0 1
AP3B1 0 0 0 1 0 1
AP4M1 0 0 1 0 0 1
AP4S1 0 0 0 1 0 1
AP5Z1 0 0 0 1 0 1
APC2 0 0 0 1 0 1
APOL4 0 0 0 1 0 1
AR, LOC109504725 0 0 0 1 0 1
ARFGEF1, CSPP1 0 0 1 0 0 1
ARHGEF10 0 0 1 0 0 1
ARHGEF9 0 0 1 0 0 1
ARL13B 0 0 0 1 0 1
ARNT2 0 0 1 0 0 1
ARV1 0 0 0 1 0 1
ARVCF 0 0 0 1 0 1
ASAH1 0 0 0 0 1 1
ASPA, SPATA22 0 0 0 1 0 1
ATG5 0 0 1 0 0 1
ATP2C1 0 0 0 0 1 1
ATP7A 1 0 0 0 0 1
ATP7A, PGAM4 0 0 0 0 1 1
ATP8B1 0 0 0 1 0 1
ATXN10 0 0 1 0 0