ClinVar Miner

Variants from Athena Diagnostics Inc

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
1414 445 4241 1504 5404 13006

Gene and significance breakdown #

Total genes and gene combinations: 755
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 3 4 303 83 322 715
SYNE1 13 12 266 69 122 482
PKD1 52 21 98 25 102 298
NOTCH3 84 5 49 21 55 214
PLEC 0 0 86 60 60 206
CACNA1A 20 9 78 24 56 187
TSC2 79 14 30 5 54 182
HSPG2 0 1 91 33 54 179
SACS 5 4 104 30 31 174
DMD 107 5 20 2 39 173
GCK 45 27 79 2 13 166
SETX 5 7 89 19 42 162
SPTBN2 1 1 41 41 57 141
CACNA1H 0 0 27 17 81 125
CLCN1 33 18 45 7 8 111
ADGRV1 1 0 36 21 49 107
DYSF 22 5 39 17 20 103
POLG 8 3 60 20 9 100
GH-LCR, SCN4A 15 5 44 8 26 98
ITPR1 0 1 32 8 51 92
SYNE2 0 0 41 14 29 84
HNF1A 28 6 26 4 18 82
ABCC8 18 4 30 5 20 77
COL4A4 9 16 13 4 35 77
LAMA2 4 0 36 11 25 76
ASPM 2 0 23 6 42 73
COL4A5 38 10 14 2 7 71
CASR 11 9 35 0 15 70
CAPN3 34 6 14 1 13 68
NEB 1 1 12 11 41 66
TGM6 0 1 25 16 22 64
SPAST 36 6 18 0 2 62
ATM 5 1 19 6 30 61
COL1A1 21 5 6 0 29 61
GJB2 30 2 19 3 5 59
COL4A3, MFF-DT 11 10 9 4 24 58
COQ8A 1 3 35 10 9 58
EEF2 0 0 10 9 39 58
TSC1 37 3 3 1 13 57
GJB1 25 6 20 2 2 55
CACNA1S 2 0 9 2 41 54
OPA1 19 6 12 1 15 53
HNF4A 8 2 21 1 20 52
ZFYVE26 2 1 14 6 29 52
VPS13B 1 1 24 11 14 51
GRM1 0 0 25 8 17 50
POMT1 0 3 20 6 21 50
ANKRD11 0 0 9 9 31 49
KMT2D 0 0 16 7 26 49
VPS13A 1 0 22 10 16 49
MFN2 10 4 22 4 8 48
RELN 0 0 17 10 21 48
COL4A1 2 3 11 2 29 47
SLC12A3 15 3 11 2 16 47
SPG11 9 2 14 7 15 47
DYNC1H1 0 0 6 5 34 45
GRN 13 4 5 1 21 44
PRKCG 2 1 29 1 10 43
SCN4A 1 0 11 2 29 43
SH3TC2 4 1 20 10 8 43
TRPV4 5 0 9 1 28 43
COL6A3 0 1 6 2 33 42
MPZ 20 5 9 1 5 40
PRX 4 1 18 5 12 40
USH2A 0 0 7 4 29 40
AFG3L2 1 1 21 5 11 39
TTBK2 0 0 17 12 10 39
AP5Z1 0 2 19 8 9 38
MRE11 1 2 23 4 8 38
COL1A2 14 1 4 2 16 37
DNM2 2 0 14 6 15 37
SCN1A 16 0 11 3 7 37
SCN5A 0 0 6 7 24 37
SPG7 9 1 14 3 10 37
SZT2 0 0 15 3 19 37
ANO10 4 2 19 6 5 36
BRAT1 0 0 14 3 19 36
KIF1A 0 0 14 11 11 36
PSEN1 11 11 11 1 2 36
RYR1 2 0 16 5 13 36
FIG4 4 1 14 6 9 34
KCNT1 0 0 11 3 20 34
OTOG 0 2 3 5 24 34
WDR62 0 0 7 3 24 34
ANO5 7 1 14 4 7 33
CYP11B1, LOC106799833 5 2 14 4 8 33
LOC102724058, SCN1A 18 1 8 0 6 33
LOC105371049, PKD1 6 3 9 6 9 33
NPHS1 5 1 11 3 13 33
SPTAN1 1 0 7 10 15 33
ATM, C11orf65 2 1 14 6 9 32
CYP21A2, LOC106780800 16 2 7 3 4 32
KCND3 0 0 17 5 10 32
NF1 19 1 6 1 5 32
PKD2 14 3 6 0 9 32
ATP1A2 3 3 11 1 13 31
FLNC 0 1 3 0 27 31
GARS1 1 0 7 4 19 31
LMNA 5 3 9 2 12 31
CLCNKB, LOC106501713 2 1 6 3 18 30
SIL1 0 0 14 7 9 30
TDP1 0 2 19 6 3 30
CNTNAP2 0 0 11 5 13 29
OTOF 0 0 5 1 23 29
SCN1A, SCN9A 0 0 8 6 15 29
ATP13A2 0 0 6 2 20 28
FLVCR1 0 2 19 1 5 27
GLDC 0 1 8 4 14 27
HCN4 0 0 7 4 16 27
SHOX 2 0 10 4 11 27
FLNA 1 1 7 4 13 26
RAI1 0 1 6 4 15 26
SCN2A 2 0 8 5 11 26
SLC1A3 0 0 13 2 11 26
HNF1B 6 2 9 2 6 25
KCNC3 2 0 5 2 16 25
KCNH2 0 0 5 5 15 25
ALMS1 0 0 2 1 21 24
ALS2 0 0 13 3 8 24
CASD1, SGCE 14 1 1 0 8 24
CDH23 0 0 5 1 18 24
DEPDC5 1 0 9 1 13 24
KCNA1 1 2 11 2 8 24
TRAPPC11 0 0 13 4 7 24
ABCD1 5 3 10 0 5 23
FKRP 3 1 8 3 8 23
MCPH1 0 1 5 0 17 23
CACNB4 0 0 12 5 5 22
EFHC1 0 0 6 3 13 22
FXN 3 4 7 3 5 22
KCNJ11 3 3 8 2 6 22
PMP22 6 5 9 0 2 22
PNPLA6 0 0 11 1 10 22
POMT2 0 1 11 2 8 22
AGRN 0 0 3 3 15 21
CHRNA4 0 0 7 0 14 21
IGHMBP2 1 0 2 3 15 21
INF2 1 1 3 1 15 21
KANSL1 0 0 1 2 18 21
MT-CO1 0 0 2 2 17 21
ACTN4 1 0 1 1 17 20
ADGRG1 0 0 8 5 7 20
AIRE 5 1 3 1 10 20
COL18A1 0 1 9 2 8 20
DCTN1 0 0 6 3 11 20
DES 2 1 7 3 7 20
DPYD 1 0 7 2 10 20
GFAP 0 0 7 2 11 20
LRRK2 1 0 3 0 16 20
MYH14 0 0 1 1 18 20
MYO15A 0 1 8 5 6 20
PCDH15 0 0 2 2 16 20
PCDH19 7 0 5 3 5 20
PLCE1 0 0 9 2 9 20
SBF2 2 0 13 1 4 20
SOD1 10 2 6 0 2 20
TTR 6 2 6 0 6 20
APP 1 2 6 0 10 19
ATP2A1 2 3 8 0 6 19
CHD2 0 0 2 2 15 19
FGFR3 0 0 2 4 13 19
MTPAP 0 0 12 4 3 19
MYO7A 0 1 2 4 12 19
PSEN2 1 1 4 5 8 19
SLC12A1 0 3 5 4 7 19
SMN1 7 4 5 0 3 19
SYNJ1 0 0 2 6 11 19
SYT14 0 1 11 4 3 19
TPP1 1 0 7 4 7 19
WWOX 0 0 1 2 16 19
CCDC88C 0 0 10 8 0 18
COL6A1 1 0 5 2 10 18
FGD4 1 0 7 1 9 18
GRIN2B 0 0 1 1 16 18
HSPB1 5 1 7 2 3 18
LOXHD1 0 0 2 2 14 18
MAPT 4 2 2 1 9 18
MECP2 7 0 3 1 7 18
PHEX 12 0 3 0 3 18
SCN3A 0 0 4 2 12 18
SMCHD1 0 1 3 2 12 18
SPATA5 0 2 6 1 9 18
WNK1 0 0 1 0 17 18
CHD7 1 0 2 3 11 17
COL6A2 1 1 1 1 13 17
NEB, RIF1 1 0 3 3 10 17
NPHS2 7 1 2 3 4 17
NRXN1 0 0 4 5 8 17
PDX1 2 1 8 2 4 17
PLCB1 0 0 2 2 13 17
PTPRQ 0 0 1 0 16 17
RET 6 0 1 0 10 17
RIPOR2 0 0 1 1 15 17
TBC1D24 0 0 6 5 6 17
TNC 0 0 0 2 15 17
TSEN54 0 0 3 2 12 17
APTX 1 2 5 3 5 16
FUS 2 0 3 2 9 16
GCH1 2 3 8 0 3 16
KCNMA1 0 0 2 3 11 16
KCNQ2 2 1 5 2 6 16
PIGN 0 0 8 2 6 16
SCN8A 0 0 5 0 11 16
SLC2A1 1 0 1 2 12 16
BSCL2, HNRNPUL2-BSCL2 1 0 6 3 5 15
DOCK7 0 0 4 2 9 15
FKTN 0 1 4 3 7 15
MAGI2 0 0 5 1 9 15
MT-ND1 0 0 0 3 12 15
NIPBL 0 0 7 1 7 15
POMGNT1, TSPAN1 1 1 5 4 4 15
PRICKLE1 0 0 9 0 6 15
PRICKLE2 0 0 5 4 6 15
RTN2 0 0 6 1 8 15
SCNN1B 6 0 1 2 6 15
SELENON 2 1 4 2 6 15
SETD2 0 0 6 2 7 15
SIK1 0 0 1 0 14 15
SLC6A8 1 1 4 1 8 15
SQSTM1 0 0 4 2 9 15
TH 0 0 4 2 9 15
WASHC5 0 1 2 0 12 15
ALG13 0 0 4 2 8 14
ATP1A3 0 0 0 2 12 14
COL2A1 0 0 1 2 11 14
COL9A2 0 0 1 0 13 14
CYP27A1 0 1 5 2 6 14
LARGE1 0 0 6 1 7 14
LOC101928008, SBF2 0 0 9 1 4 14
MTMR2 0 0 6 0 8 14
PIGO 0 0 5 1 8 14
SGCG 3 0 6 0 5 14
TBX1 0 0 5 0 9 14
ABAT 0 0 2 2 9 13
ARFGEF2 0 0 9 0 4 13
ATL1 2 2 2 1 6 13
ATRX 0 0 4 2 7 13
CLCNKA, LOC106501712 0 0 3 2 8 13
DAG1 0 0 10 1 2 13
FGF14 0 0 5 2 6 13
GABRD 0 0 6 4 3 13
GABRG2 1 0 4 1 7 13
GRIN2A 0 0 6 1 6 13
KIF5A 0 2 4 3 4 13
LAMB2 0 1 2 5 5 13
NEFL 0 1 8 0 4 13
PDYN 0 0 6 1 6 13
PINK1 0 0 5 1 7 13
PNKP 0 0 3 5 5 13
SCNN1G 0 1 1 1 10 13
SLC6A1 0 0 2 2 9 13
TRPC6 0 0 4 0 9 13
WFS1 1 0 3 5 4 13
ALPL 0 2 2 0 8 12
CACNA2D1 0 0 2 1 9 12
CHRNB2 0 0 6 1 5 12
COL18A1, SLC19A1 0 0 2 4 6 12
CTSF 0 0 3 1 8 12
DEAF1 0 0 3 1 8 12
HSPG2, LDLRAD2 0 0 3 4 5 12
LBR 0 0 2 0 10 12
LDLR 5 2 2 1 2 12
LEPR 0 1 3 0 8 12
MYH7 0 0 1 2 9 12
NDRG1 0 0 5 1 6 12
NTRK1 0 0 3 1 8 12
ROGDI 0 0 2 3 7 12
SGCA 3 0 4 1 4 12
SLC19A3 0 0 3 2 7 12
STIL 0 0 4 1 7 12
TARDBP 3 0 2 1 6 12
TECTA 0 0 4 3 5 12
VCP 1 1 4 0 6 12
ACTG1 1 0 1 0 9 11
ASAH1 0 0 6 1 4 11
ATP6V0A2 0 0 4 3 4 11
BDP1 0 0 4 1 6 11
CAV3 1 0 4 0 6 11
CENPJ 0 0 2 0 9 11
CHSY1 0 0 1 2 8 11
COL9A3 0 0 1 1 9 11
CPT2 0 0 7 1 3 11
CYP7B1 3 0 4 1 3 11
DOK7 3 0 2 2 4 11
GDAP1 3 2 3 2 1 11
HTRA1 0 0 6 1 4 11
KCNQ3 0 0 5 3 3 11
LOC101927055, TTN 0 0 4 1 6 11
MBD5 0 0 3 5 3 11
MT-RNR1 0 0 2 0 9 11
MYH9 0 0 1 1 9 11
PDZD7 0 0 2 3 6 11
ADSL 2 0 2 1 5 10
AVPR2 4 0 2 0 4 10
CEMIP 0 0 3 3 4 10
EPM2A 0 0 7 1 2 10
GRIN1 0 0 1 1 8 10
L2HGDH 0 0 3 1 6 10
MC4R 4 1 3 0 2 10
MYOT 1 1 0 1 7 10
NEXMIF 0 0 1 3 6 10
PRKN 3 2 1 0 4 10
RAB3GAP1 0 0 2 1 7 10
SETBP1 0 0 2 1 7 10
SGCB 1 0 7 1 1 10
SLC26A4 0 0 4 1 5 10
SMC3 0 0 0 2 8 10
STXBP1 1 0 1 0 8 10
TCF4 0 0 2 1 7 10
TCOF1 0 0 1 1 8 10
TJP2 0 0 2 0 8 10
TTPA 4 0 3 1 2 10
CACNA1D 0 0 2 0 7 9
CCDC78 0 0 6 2 1 9
CCM2 6 0 0 0 3 9
COL9A1 0 1 1 2 5 9
CTSD 0 0 0 3 6 9
FA2H 0 0 7 0 2 9
GLUD1 1 0 1 0 7 9
L1CAM 0 0 5 0 4 9
LARS2 0 0 0 2 7 9
LMNB2 0 0 2 1 6 9
MT-CO2 0 0 2 0 7 9
MYO6 0 0 3 1 5 9
NF2 5 0 1 0 3 9
NLRP3 0 0 1 1 7 9
OTOGL 0 0 3 0 6 9
PRRT2 1 0 2 1 5 9
RBFOX1 0 0 2 2 5 9
SCN1B 1 0 3 2 3 9
STRC 0 1 4 2 2 9
SUCLA2 0 1 1 0 7 9
ZEB2 0 0 5 1 3 9
ATP2A2 0 0 0 1 7 8
ATRIP, ATRIP-TREX1, TREX1 0 0 5 1 2 8
AXDND1, NPHS2 3 2 1 1 1 8
CHMP2B 0 0 5 0 3 8
CHRNE 1 1 2 1 3 8
CLN8 0 0 4 1 3 8
COL11A2 0 0 2 2 4 8
DHCR7 1 1 0 0 6 8
EEF1A2 0 0 0 0 8 8
FGFR1 2 0 2 0 4 8
FOXG1 0 0 4 3 1 8
GABRB3 0 0 4 0 4 8
GJB3 0 0 1 2 5 8
HCN1 0 0 1 0 7 8
HSD11B2 0 0 3 0 5 8
HSD17B4 0 1 1 1 5 8
KIFBP 0 0 3 0 5 8
KLHL40 0 0 3 1 4 8
LHCGR, STON1-GTF2A1L 3 0 1 0 4 8
LOC107652445, SHOX 1 0 3 2 2 8
MYO3A 0 0 2 2 4 8
OPHN1 0 0 3 1 4 8
PANK2 0 0 2 2 4 8
PEX6 0 0 1 0 7 8
SCARB2 0 0 3 1 4 8
SGCD 0 0 0 2 6 8
SIX3 0 0 0 1 7 8
SLC4A10 0 0 6 0 2 8
SLC4A11 0 0 2 1 5 8
SLC9A6 0 0 2 2 4 8
TRIOBP 0 0 3 2 3 8
TSPEAR 0 0 2 3 3 8
TUBA1A 0 0 1 1 6 8
TWNK 1 0 4 0 3 8
UMOD 3 1 2 0 2 8
WHRN 0 0 2 2 4 8
BAG3 0 0 0 0 7 7
CACNA2D2, CYB561D2 0 0 1 3 3 7
CHRNA2 0 0 2 2 3 7
COL11A1 0 0 1 0 6 7
COL4A6 0 0 1 0 6 7
CRPPA 0 0 3 1 3 7
CUL4B 0 0 4 1 2 7
FANCI, POLG 0 0 3 1 3 7
GNAO1 0 0 0 0 7 7
HNRNPU 0 0 2 0 5 7
HSPB8 0 0 3 1 3 7
KCNJ10 0 0 5 2 0 7
KRIT1 4 1 1 0 1 7
LOC101927870, RELN 0 0 3 0 4 7
LRP5 0 0 0 0 7 7
MEGF10 0 0 2 2 3 7
MYBPC3 0 1 3 1 2 7
OPTN 0 1 2 0 4 7
PLA2G6 0 0 4 1 2 7
RAPSN 1 1 1 2 2 7
REEP1 1 0 3 0 3 7
RNASEH2B 1 1 1 1 3 7
SCN9A 0 1 3 1 2 7
SEPTIN9 1 0 1 1 4 7
SLC25A22 0 0 2 3 2 7
SNHG14, UBE3A 0 0 2 1 4 7
SPART 0 0 5 1 1 7
SYN1 0 0 1 0 6 7
TBL1XR1 0 0 2 0 5 7
TMC1 0 1 3 1 2 7
TMEM132E 0 0 1 0 6 7
TUBA8 0 0 3 0 4 7
YARS1 0 0 4 1 2 7
ADCY1 0 0 1 1 4 6
CACNA2D2 0 0 2 3 1 6
CHAT 0 0 3 0 3 6
CLN3 1 0 1 3 1 6
CLN6 0 0 3 2 1 6
CYP11B1 1 1 3 0 1 6
DIAPH3 0 0 2 0 4 6
DNAJB6 0 0 3 0 3 6
DNM1 0 0 1 2 3 6
DSPP 0 0 1 0 5 6
DYRK1A 0 0 3 0 3 6
EPS8 0 0 0 0 6 6
ERCC2 0 0 1 0 5 6
GABRB2 0 0 2 1 3 6
GAMT 0 0 4 1 1 6
GPSM2 0 0 0 0 6 6
HOMER2 0 0 1 0 5 6
IQSEC2 0 1 0 0 5 6
KCNJ1 2 0 0 2 2 6
KCTD7 0 0 3 2 1 6
LDB3 0 0 0 0 6 6
MCM2 0 0 2 2 2 6
MEN1 4 0 0 0 2 6
MET 0 0 1 0 5 6
NHLRC1 0 0 4 0 2 6
NR0B1 3 1 0 0 2 6
PHEX, PTCHD1 4 0 1 0 1 6
PHGDH 0 0 1 0 5 6
PNPO 0 1 1 2 2 6
QARS1 0 0 3 0 3 6
SALL1 0 0 0 0 6 6
SLC33A1 0 0 1 0 5 6
SLITRK6 0 0 0 0 6 6
SNAP29 0 0 1 4 1 6
ST3GAL5 0 0 1 1 4 6
STAR 3 1 0 0 2 6
STX1B 0 0 0 0 6 6
THAP1 0 0 2 2 2 6
TMEM43 0 0 2 2 2 6
VAPB 1 0 2 1 2 6
ALDH7A1 0 0 1 4 0 5
ANOS1 1 0 0 0 4 5
ARMS2, HTRA1 0 0 0 1 4 5
ARSA 2 0 0 0 3 5
ASTN2, TRIM32 0 0 4 1 0 5
ATP2B2 0 0 1 0 4 5
BBS1, ZDHHC24 1 0 0 0 4 5
C17orf107, CHRNE 0 3 2 0 0 5
CATIP, PNKD 0 0 1 0 4 5
CHRNA1 0 0 0 3 2 5
CLDN14 0 0 0 1 4 5
CLN5 0 0 1 1 3 5
CLN5, FBXL3 0 0 3 0 2 5
CNTN1 0 0 1 0 4 5
CSTB 3 0 1 1 0 5
EGR2 0 0 3 0 2 5
EIF2B4 0 0 0 0 5 5
EMD 2 0 0 2 1 5
FGFR2 0 0 0 0 5 5
FHL1 2 0 0 0 3 5
GH-LCR, GH1 2 0 0 0 3 5
GNE 2 0 2 1 0 5
GRIA3 0 0 0 2 3 5
ILDR1 0 0 0 0 5 5
KBTBD13 0 0 1 0 4 5
KCNA2 0 0 1 1 3 5
KCNB1 0 0 0 0 5 5
KCNC1 0 0 1 0 4 5
KCNQ1 0 0 3 0 2 5
KCNQ4 0 0 0 2 3 5
LIAS 0 0 3 1 1 5
LITAF 2 0 0 1 2 5
LOC110121269, SCN5A 0 0 2 1 2 5
MAF, WWOX 0 0 1 0 4 5
MHRT, MYH7 0 0 1 2 2 5
MITF 0 0 0 2 3 5
OFD1 0 0 3 0 2 5
PEX1 0 0 1 1 3 5
POLR1D 0 0 0 0 5 5
PRIMA1 0 0 1 1 3 5
PROKR2 1 0 0 0 4 5
PROP1 1 0 0 0 4 5
RNASEH2A 0 0 3 0 2 5
SHH 0 0 0 0 5 5
SRPX2 0 0 1 0 4 5
ST3GAL3 0 0 0 1 4 5
TUBB2B 0 0 2 0 3 5
UBQLN2 0 0 3 1 1 5
USH1C 0 0 0 1 4 5
WT1 1 0 1 0 3 5
ABHD12 0 0 0 2 2 4
AMT 0 0 2 0 2 4
ANG, RNASE4 0 0 2 1 1 4
AQP2 2 2 0 0 0 4
ATP6AP2 0 0 1 0 3 4
ATP6V1B1 0 0 0 1 3 4
BICD2 0 0 3 0 1 4
CAV3, SSUH2 1 0 0 0 3 4
CCDC50 0 0 1 0 3 4
CDKL5 1 0 0 0 3 4
CHKB, CHKB-CPT1B 0 0 2 1 1 4
CHRND 0 0 2 0 2 4
CLPP 0 0 0 0 4 4
COL6A2, FTCD 0 0 0 0 4 4
COLQ 1 1 0 0 2 4
CPA6 0 0 3 0 1 4
DIAPH1 0 0 1 1 2 4
EDNRB 0 0 0 1 3 4
ELMOD3 0 0 0 1 3 4
EPM2A, FBXO30-DT 0 0 1 0 3 4
EPS8L2 0 0 2 0 2 4
ESRRB 0 0 1 0 3 4
FGD1 0 0 2 1 1 4
FOXI1 0 0 0 2 2 4
GABRA1 0 1 0 0 3 4
GHR 0 0 0 0 4 4
GOSR2, LRRC37A2 0 0 2 0 2 4
GPC3 0 0 1 0 3 4
GRHL2 0 0 0 0 4 4
HSPB3 0 0 0 1 3 4
ITGA7 0 0 0 2 2 4
KANSL1, MAPT 0 0 0 0 4 4
KARS1 0 0 2 0 2 4
KCNJ2 2 0 1 0 1 4
MUSK 0 0 2 0 2 4
MYH2, MYHAS 0 1 1 1 1 4
NARS2 0 0 2 0 2 4
NDE1 0 0 2 0 2 4
PEX7 0 1 1 1 1 4
PLP1, RAB9B 0 1 0 0 3 4
RAB7A 0 0 1 0 3 4
SDHB 0 2 1 0 1 4
SEMA3E 0 0 0 0 4 4
SERPINI1 0 0 1 1 2 4
SLC13A5 0 0 1 1 2 4
SPG21 0 0 1 2 1 4
SYNGAP1 0 0 2 0 2 4
TAPBPL, VAMP1 1 0 2 0 1 4
TCAP 1 0 3 0 0 4
WDR45 0 0 2 0 2 4
ACTB 0 0 0 0 3 3
ALG9 0 0 1 1 1 3
ARHGEF9 0 0 1 2 0 3
ARX 0 0 0 0 3 3
BBS10 1 0 1 0 1 3
BCKDK 0 0 1 0 2 3
BSND 0 0 0 0 3 3
C10orf105, CDH23 0 0 0 0 3 3
CEACAM16 0 0 1 0 2 3
CEP290 0 0 0 1 2 3
CLCNKB 2 0 0 0 1 3
CLIC5 0 0 0 1 2 3
CPA6, LOC102724708 0 0 1 0 2 3
CRH 0 0 0 0 3 3
CYP17A1 0 0 0 0 3 3
DCDC2 0 0 0 0 3 3
DNAJC5 0 0 0 0 3 3
EIF2B5 1 0 1 0 1 3
EMX2 0 0 1 0 2 3
ERCC3 0 0 1 0 2 3
ESR1, SYNE1 0 0 2 0 1 3
EYA1 0 0 0 0 3 3
FGD1, TSR2 0 0 1 1 1 3
FGF23 0 0 0 0 3 3
GATM 0 0 0 1 2 3
GFPT1 0 1 0 0 2 3
GRXCR2 0 0 0 0 3 3
HOXB1 0 0 1 0 2 3
HSD3B2 1 0 0 2 0 3
HSPD1 0 0 2 1 0 3
INS, INS-IGF2, TH 0 0 0 0 3 3
KDM5C 0 0 1 1 1 3
KISS1R 0 0 0 0 3 3
LGI1 0 0 1 1 1 3
LOC108903148, OPTN 0 0 1 0 2 3
MANBA 0 0 0 0 3 3
ME2 0 0 3 0 0 3
MFSD8 0 0 1 0 2 3
NIPA1 1 0 2 0 0 3
P2RX2 0 0 0 1 2 3
PAK3 0 0 0 1 2 3
PARK7 1 0 0 0 2 3
PIGA 0 0 1 0 2 3
POLR2F, SOX10 0 1 0 1 1 3
POMGNT2 0 0 0 1 2 3
POU4F3 0 0 1 0 2 3
PPT1 1 0 1 0 1 3
PTPN11 3 0 0 0 0 3
ROR1 0 0 0 0 3 3
SCO2, TYMP 0 0 0 0 3 3
SERPINB6 0 0 2 0 1 3
SIGMAR1 0 0 2 0 1 3
SLC25A19 0 0 1 1 1 3
SLC35A2 0 0 0 2 1 3
SMC1A 0 0 0 1 2 3
SNAP25 0 0 1 1 1 3
SPTLC1 0 0 1 0 2 3
TIA1 0 0 0 0 3 3
TMPRSS3 0 0 0 1 2 3
TPRN 0 0 1 1 1 3
UBA1 0 0 0 1 2 3
USH1G 0 0 1 0 2 3
AIFM1, RAB33A 0 0 0 0 2 2
ANAPC15, LRTOMT 0 0 1 0 1 2
BBS1 0 0 1 0 1 2
BBS2 0 0 0 0 2 2
BCS1L 0 0 0 0 2 2
BIN1 0 0 1 1 0 2
CASK 0 0 0 0 2 2
CC2D2A 0 0 0 1 1 2
CDC14A 0 0 0 0 2 2
CDKL5, RS1 0 0 1 0 1 2
CENPJ, RNF17 0 0 1 1 0 2
CHRNA4, LOC100130587 0 0 1 0 1 2
CIB2 0 0 0 1 1 2
CRYAB 0 0 0 0 2 2
CYP11B1, LOC110673972 0 0 2 0 0 2
CYP21A2 0 0 2 0 0 2
DCX 0 0 1 0 1 2
DMAC2L, L2HGDH 0 0 0 0 2 2
DNMT1 0 0 0 0 2 2
DPAGT1 0 0 2 0 0 2
ESPN 0 0 1 0 1 2
FGF3 0 0 0 0 2 2
FOLR1 0 0 0 0 2 2
GATAD1, PEX1 0 0 1 0 1 2
GIPC3 0 0 1 0 1 2
GRXCR1 0 0 0 0 2 2
GSDME 0 0 0 1 1 2
INS, INS-IGF2 1 0 1 0 0 2
INS, TH 0 0 0 0 2 2
LDB3, LOC110121486 1 0 0 0 1 2
LOC100287042, SLC25A19 0 0 0 0 2 2
LOC107982234, WT1 0 0 0 0 2 2
LOC112533671, TSEN54 0 0 0 0 2 2
LRTOMT 0 0 1 0 1 2
MATR3 1 0 0 0 1 2
MIR6084, PINK1 0 0 1 0 1 2
MIR6511B1, PKD1 0 0 1 0 1 2
MIR96 0 0 0 0 2 2
MTM1 1 0 1 0 0 2
NOC3L, PLCE1 0 0 2 0 0 2
NR2F1 0 0 0 0 2 2
OSBPL2 0 0 2 0 0 2
OTOA 0 0 0 1 1 2
PAX3 0 0 0 0 2 2
PNPT1 0 0 1 0 1 2
POLR1C 0 0 1 0 1 2
PQBP1 0 0 0 0 2 2
RAB3GAP1, ZRANB3 0 0 2 0 0 2
RDX 0 0 0 1 1 2
RRM2B 0 0 1 0 1 2
S1PR2 0 0 0 1 1 2
SAMHD1 0 0 1 1 0 2
SGCE 0 0 2 0 0 2
SIX5 0 0 1 0 1 2
SLC17A8 0 0 1 0 1 2
SLC19A2 0 0 1 0 1 2
SLC26A5 0 0 1 0 1 2
SOS1 0 0 1 1 0 2
SPTLC2 0 0 0 0 2 2
SYNE4 0 0 0 1 1 2
TFAP2A 0 0 0 0 2 2
TMEM67 0 0 0 0 2 2
TPM3 1 0 0 1 0 2
TYMP 0 0 1 0 1 2
VHL 1 0 0 0 1 2
ABCC8, KCNJ11 0 0 0 0 1 1
ACTA1 0 0 0 0 1 1
AFG3L2, TUBB6 0 0 1 0 0 1
AHI1 0 0 0 0 1 1
AMT, NICN1 0 0 0 0 1 1
ANGPT2, MCPH1 0 0 1 0 0 1
ANKH 0 0 0 0 1 1
ANKRD11, TRAPPC2L 0 0 0 1 0 1
APOB 1 0 0 0 0 1
ATP6V1B2 0 0 0 0 1 1
B4GAT1 0 0 1 0 0 1
C12orf43, HNF1A 0 0 0 1 0 1
CABP2 0 0 0 0 1 1
CAVIN1 0 0 1 0 0 1
CCNF, TBC1D24 0 0 0 1 0 1
CEMIP, MESD 0 0 0 0 1 1
CHMP2B, POU1F1 0 0 0 0 1 1
CHRNB1 0 0 1 0 0 1
CISD2 0 0 0 1 0 1
CIZ1, DNM1 0 0 0 0 1 1
CLCC1, GPSM2 0 0 0 0 1 1
CLRN1 0 0 0 0 1 1
COL4A1, COL4A2 0 0 0 0 1 1
COL4A3 0 0 0 0 1 1
CPLANE1, NIPBL 0 0 0 0 1 1
CRYM 0 0 0 0 1 1
CYP21A2, LOC106780800, LOC110631417 0 0 0 0 1 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 1
DGUOK 0 0 1 0 0 1
DKFZP434H168, GNAO1 0 0 0 0 1 1
DM1, LOC107075317, SIX5 0 0 0 0 1 1
EDN3 0 0 0 0 1 1
EIF2B3 0 0 0 0 1 1
EMX2, EMX2OS 0 0 0 0 1 1
EYA4, TARID 0 0 1 0 0 1
FGF8 0 0 0 0 1 1
GATA3 0 0 0 0 1 1
GLUD1, SHLD2 0 0 0 1 0 1
GNRH1 0 0 0 0 1 1
GNRHR 0 0 0 0 1 1
HGF 0 0 0 0 1 1
KCNE1 0 0 0 1 0 1
KIRREL2, NPHS1 0 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 0 1
MARVELD2 0 0 1 0 0 1
MCOLN1, PNPLA6 0 0 0 0 1 1
MIR3936HG, SLC22A4 0 0 0 0 1 1
MPV17 1 0 0 0 0 1
MT-TI 0 0 1 0 0 1
MT-TK 0 0 0 1 0 1
MT-TQ 0 0 0 0 1 1
MT-TS1 0 0 0 0 1 1
MT-TS2 0 0 0 0 1 1
MYH11, NDE1 0 0 1 0 0 1
NDP 0 0 1 0 0 1
NDUFA1 0 0 0 0 1 1
OTOP2, USH1G 0 0 1 0 0 1
PACRG, PRKN 1 0 0 0 0 1
PAFAH1B1 0 0 0 0 1 1
PDCD10 0 1 0 0 0 1
PFN1 0 0 1 0 0 1
PIGV 0 0 1 0 0 1
PJVK 0 0