ClinVar Miner

Variants from Athena Diagnostics

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
2416 888 9043 2815 8242 23400

Gene and significance breakdown #

Total genes and gene combinations: 1023
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 6 8 583 175 533 1305
SYNE1 33 28 651 167 199 1078
NOTCH3 181 21 214 78 102 596
PKD1 113 29 191 59 171 563
SACS 21 14 269 67 85 456
PLEC 0 0 190 87 145 422
CACNA1A 44 17 180 53 99 393
SETX 10 13 217 47 71 358
HSPG2 1 3 184 58 91 337
SPTBN2 1 2 168 64 99 334
GCK 81 51 117 5 18 272
ITPR1 0 2 113 36 96 247
DMD 123 10 50 7 58 246
TSC2 100 23 47 9 67 245
ATM 11 2 111 27 50 201
SYNE2 0 0 89 30 79 198
DYSF 30 9 74 25 40 178
CLCN1 48 20 83 13 13 177
POLG 17 8 97 32 17 171
GH-LCR, SCN4A 23 11 77 17 40 168
CACNA1H 0 0 43 23 97 163
TGM6 0 0 69 26 64 159
SPAST 93 18 40 1 5 156
HNF1A 48 14 50 9 33 154
ADGRV1 1 1 49 23 78 152
COQ8A 3 10 86 19 25 143
CASR 24 20 72 1 19 136
EEF2 1 0 38 26 57 122
GRM1 0 1 74 14 32 121
ATM, C11orf65 13 6 67 16 13 115
SPG11 20 5 51 9 29 114
NEB 1 1 32 17 62 113
TTBK2 2 0 51 22 32 107
CAPN3 44 11 28 7 16 106
MFN2 15 10 53 9 17 104
LAMA2 6 1 50 16 30 103
NF1 55 9 21 3 13 101
ZFYVE26 3 3 41 17 37 101
RYR1 6 6 51 9 28 100
GJB1 34 14 40 1 6 95
PRX 5 0 53 10 27 95
SH3TC2 6 2 49 20 18 95
ANO10 7 8 52 12 15 94
ASPM 2 1 32 7 52 94
OPA1 35 11 24 1 23 94
ABCC8 22 6 39 6 20 93
GJB2 44 7 27 5 7 90
HNF4A 15 4 36 8 26 89
PRKCG 4 5 56 7 16 88
KIF1A 0 0 42 12 33 87
COL4A4 10 17 14 6 39 86
AP5Z1 2 5 35 13 30 85
COL4A5 45 12 19 1 8 85
MRE11 2 4 47 15 16 84
COL1A1 26 6 13 2 36 83
KCND3 3 2 39 12 25 81
KMT2D 4 0 20 10 47 81
TRPV4 5 0 30 7 39 81
TSC1 46 6 4 1 23 80
CACNA1S 3 1 12 8 53 77
SCN4A 3 4 24 5 41 77
AFG3L2 5 2 48 6 12 73
VPS13B 3 1 31 15 22 72
SIL1 1 0 42 10 17 70
DYNC1H1 0 0 12 10 47 69
VPS13A 2 0 29 9 29 69
ALS2 0 0 38 7 23 68
COL4A1 3 4 16 3 42 68
COL4A3, MFF-DT 15 11 10 6 26 68
MPZ 26 16 19 2 5 68
CYP21A2, LOC106780800 22 10 17 8 10 67
KCNC3 2 0 24 13 28 67
SLC1A3 0 0 36 6 25 67
POMT1 1 3 30 11 21 66
SPG7 18 4 28 4 12 66
DNM2 2 1 30 6 26 65
FIG4 6 4 35 8 12 65
ANO5 10 4 33 7 10 64
LMNA 9 6 30 6 12 63
SHOX 5 1 34 5 17 62
COL6A3 0 2 9 3 47 61
LOC102724058, SCN1A 26 6 17 3 9 61
SCN1A 23 6 16 5 12 61
ANKRD11 0 0 10 12 38 60
RELN 0 0 17 10 33 60
GRN 17 2 14 3 23 59
PSEN1 18 15 17 4 5 59
FLVCR1 1 3 41 7 6 58
SZT2 0 0 24 8 26 58
PKD2 27 3 14 2 10 56
SLC12A3 20 5 11 4 16 56
PNPLA6 2 1 26 9 17 55
COL1A2 17 1 9 4 23 54
MTPAP 0 0 35 10 9 54
FLNC 0 1 8 2 40 51
ATP1A2 5 3 22 1 19 50
TDP1 0 1 35 4 10 50
POLG, POLGARF 2 2 34 6 5 49
CACNB4 0 0 30 5 13 48
KCNT1 0 1 13 6 28 48
GARS1 2 0 15 6 24 47
TTR 20 6 12 2 7 47
SBF2 4 0 26 8 8 46
SCN2A 4 3 13 7 19 46
SYT14 0 0 35 5 6 46
SCN5A 0 2 9 10 24 45
USH2A 1 0 6 6 32 45
BRAT1 0 0 17 6 21 44
LRRK2 3 0 10 4 27 44
SPTAN1 1 0 8 11 24 44
ATP2A1 2 4 21 4 12 43
WDR62 0 0 9 5 28 42
APP 4 3 16 2 17 41
GLDC 1 2 14 6 19 41
NEFL 2 3 25 3 8 41
OTOG 0 2 5 5 29 41
POMT2 0 1 19 5 16 41
CYP11B1, LOC106799833 6 2 16 3 13 40
HNF1B 6 1 19 6 8 40
SMN1 14 9 13 1 3 40
APTX 2 4 19 6 8 39
FLNA 2 1 7 4 25 39
NPHS1 10 1 10 4 14 39
SCN1A, SCN9A 0 0 16 8 15 39
ATP13A2 0 1 8 2 27 38
HCN4 0 0 9 8 21 38
KCNH2 0 0 16 6 16 38
PMP22 9 6 18 1 4 38
CNTNAP2 0 0 14 6 17 37
DAG1 0 0 22 5 10 37
DEPDC5 2 0 15 1 19 37
FGD4 1 1 15 7 13 37
HSPB1 8 3 13 4 9 37
KCNA1 3 2 16 5 11 37
PDX1 2 1 15 6 13 37
DCTN1 1 1 10 5 19 36
DES 3 4 14 3 12 36
FKRP 3 2 16 4 10 35
TRAPPC11 0 0 18 5 12 35
TTPA 6 1 17 6 5 35
CDH23 1 0 9 3 21 34
CLCNKB, LOC106501713 2 1 8 3 20 34
PDYN 0 0 16 5 13 34
CHD2 1 0 6 5 21 33
GFAP 2 2 12 3 14 33
AGRN 0 0 4 3 25 32
RAI1 0 1 9 4 18 32
SMCHD1 0 1 10 5 16 32
CASD1, SGCE 16 2 3 0 10 31
FUS 4 1 9 3 14 31
KANSL1 0 0 2 5 24 31
RTN2 0 1 15 2 13 31
SOD1 13 2 11 0 5 31
SQSTM1 0 0 11 4 16 31
SYNJ1 0 1 8 9 13 31
WASHC5 1 1 10 3 16 31
INF2 1 1 3 2 23 30
KCNJ11 4 6 9 3 8 30
KIF5A 4 2 10 5 9 30
LOC101928008, SBF2 0 0 21 2 7 30
OTOF 0 0 6 1 23 30
SGCA 5 2 11 6 6 30
WWOX 0 0 7 3 20 30
COL6A2 2 1 3 2 21 29
KCNMA1 0 0 7 6 16 29
MCPH1 0 1 6 1 21 29
MYO7A 1 2 7 5 14 29
PSEN2 1 2 6 5 15 29
SCNN1B 7 0 6 4 12 29
ABCD1, PLXNB3 9 4 11 0 4 28
ADGRG1 0 0 10 7 11 28
FGF14 1 0 11 6 10 28
MYO15A 1 1 12 6 8 28
NIPBL 0 0 11 4 13 28
SGCG 4 0 13 4 7 28
CHRNA4 0 0 7 1 19 27
COL6A1 1 0 7 3 16 27
CYP7B1 5 0 16 2 4 27
FXN 5 3 13 1 5 27
LOC101927055, TTN 0 0 11 3 13 27
NDRG1 0 1 16 5 5 27
ARFGEF2 0 0 15 2 9 26
KCNQ2 2 4 6 3 11 26
MT-CO1 0 0 2 3 21 26
NRXN1 0 0 6 6 14 26
PCDH19 8 2 5 5 6 26
BSCL2, HNRNPUL2-BSCL2 3 0 11 7 4 25
EFHC1 0 0 7 4 14 25
FGFR3 0 0 2 4 19 25
HTRA1 0 0 13 2 10 25
IGHMBP2 2 0 4 4 15 25
MECP2 9 0 3 1 12 25
NEB, RIF1 1 0 8 3 13 25
POMGNT1, TSPAN1 1 1 9 8 6 25
RET 9 0 3 1 12 25
SCN3A 0 1 8 2 14 25
ALG13 0 0 6 3 15 24
ALMS1 0 0 1 2 21 24
ATL1 4 3 7 2 8 24
CHD7 4 0 4 2 14 24
DPYD 1 0 10 2 11 24
FXN, LOC130001862 2 1 11 2 8 24
L1CAM 0 0 10 2 12 24
MAGI2 0 0 9 3 12 24
MAPT 4 3 4 1 12 24
MYH14 0 0 3 2 19 24
MYOT, PKD2L2-DT 3 1 5 1 14 24
PCDH15 0 0 4 2 18 24
SETD2 0 0 7 3 14 24
SLC12A1 0 3 8 4 9 24
WNK1 0 0 3 0 21 24
GRIN2B 0 0 1 4 18 23
LOC126862019, TDP1 0 1 14 4 4 23
LOXHD1 0 0 5 3 15 23
MTMR2 0 0 11 3 9 23
PRKN 6 3 4 2 8 23
ACTN4 1 0 1 2 18 22
AFG2A 0 3 6 3 10 22
AIRE 5 1 3 3 10 22
ATP1A3 0 0 2 3 17 22
COL18A1 0 1 9 2 10 22
DOCK7 0 0 4 4 14 22
EGR2 3 0 12 0 7 22
HSPG2, LDLRAD2 0 0 8 5 9 22
LOC107652445, SHOX 3 1 11 3 4 22
PINK1 1 0 12 2 7 22
SLC2A1 2 0 2 3 15 22
TPP1 1 0 7 3 11 22
FKTN 1 1 8 4 7 21
GDAP1 6 1 9 4 1 21
GRIN2A 0 0 8 1 12 21
PIGN 0 1 11 2 7 21
PLCE1 0 0 10 2 9 21
PRICKLE2 0 0 9 4 8 21
REEP1 6 0 11 0 4 21
RIPOR2 0 0 2 2 17 21
SETBP1 0 0 4 1 16 21
SLC19A3 0 0 8 3 10 21
TNC 0 0 1 3 17 21
TSEN54 0 0 5 2 14 21
CCDC88C 0 0 7 12 1 20
GCH1 4 5 10 0 1 20
KRIT1 9 5 3 1 2 20
NPHS2 8 2 2 2 6 20
PHEX 12 0 4 0 4 20
PLCB1 0 0 3 4 13 20
PRICKLE1 0 0 10 1 9 20
RAB3GAP1 0 0 7 2 11 20
SCN8A 2 0 6 0 12 20
SIK1 0 0 3 1 16 20
VCP 2 1 6 0 11 20
ALPL 0 4 5 1 9 19
ASAH1 0 0 9 5 5 19
ATRX 0 0 5 4 10 19
CYP27A1 0 1 9 3 6 19
LARGE1 0 0 6 4 9 19
LOC126859837, SYNE1 0 3 10 6 0 19
MT-ND1 0 0 0 5 14 19
PTPRQ 0 0 3 0 16 19
SLC6A8 1 1 6 0 11 19
TBC1D24 0 1 5 6 7 19
TBX1 0 0 7 2 10 19
TH 0 0 5 2 12 19
TRPC6 2 0 5 0 12 19
CAV3, OXTR 1 1 7 0 9 18
FA2H 1 0 7 3 7 18
LMNB2 0 0 8 4 6 18
MEN1 11 1 1 1 4 18
MVP-DT, PRRT2 5 0 5 1 7 18
NTRK1 0 0 3 2 13 18
SELENON 2 1 5 2 8 18
SLC6A1 1 0 2 4 11 18
TARDBP 3 0 6 2 7 18
ABAT 0 0 2 2 13 17
ASTN2, TRIM32 0 0 12 3 2 17
CACNA2D1 0 0 4 3 10 17
CCDC78 0 0 6 7 4 17
CHRNB2 0 0 7 1 9 17
CPAP 0 0 4 1 12 17
OPTN 0 2 8 1 6 17
PIGO 0 0 6 2 9 17
PNKP 1 1 2 6 7 17
TWNK 2 0 12 0 3 17
WFS1 2 0 3 5 7 17
YARS1 1 0 10 3 3 17
CTSF 0 0 3 2 11 16
GABRG2 1 0 4 1 10 16
HSPB8 1 0 6 3 6 16
LAMB2 0 1 4 4 7 16
LBR 0 0 4 1 11 16
LOC126806425, TTN 0 0 6 2 8 16
MBD5 0 0 4 6 6 16
STIL 0 0 6 1 9 16
COL2A1 0 0 1 3 11 15
COL9A2 0 0 1 0 14 15
DNAJB6 1 0 5 3 6 15
DOK7 3 0 3 3 6 15
ITPR1, LOC126806590 0 1 5 2 7 15
LEPR 0 1 3 1 10 15
LOC126806422, TTN 0 0 5 1 9 15
MC4R 4 1 6 1 3 15
MYBPC3 1 1 5 1 7 15
MYH7 0 0 1 1 13 15
SLC33A1 0 0 5 2 8 15
SLC4A10 0 1 8 2 4 15
TCOF1 0 0 1 1 13 15
ATP6V0A2 1 0 6 3 4 14
AVPR2 5 2 2 0 5 14
CPT2 1 0 8 1 4 14
DEAF1 0 0 5 2 7 14
EEF2, LOC130063169 0 0 1 3 10 14
HSPD1 0 0 5 1 8 14
KCNQ3 0 0 5 3 6 14
L2HGDH 0 0 3 3 8 14
LOC105369149, SBF2 0 0 7 3 4 14
LOC126806424, TTN 0 0 9 2 3 14
LOC126806430, TTN 0 0 2 4 8 14
ROGDI 0 0 2 4 8 14
SCNN1G 0 1 2 0 11 14
SGCD 0 0 2 3 9 14
TAPBPL, VAMP1 3 1 8 0 2 14
ZEB2 0 0 5 1 8 14
BDP1 0 0 5 1 7 13
CCM2 7 1 2 0 4 13
CEMIP 0 0 4 3 6 13
CLCNKA, LOC106501712 0 0 3 2 8 13
FGFR1 2 1 3 0 7 13
GABRD 0 0 6 3 4 13
HNF1B, LOC126862549 3 1 6 0 3 13
KIFBP 0 0 5 0 8 13
LOC126806428, TTN 0 0 3 3 7 13
LOC129992813, PKD2 5 0 2 1 5 13
MEGF10 0 0 4 2 7 13
MYH9 0 0 2 1 10 13
NF2 7 0 1 2 3 13
PDZD7 0 0 2 4 7 13
PLA2G6 0 0 7 3 3 13
QARS1 0 0 6 2 5 13
SIX3 1 0 2 1 9 13
SMC3 0 0 0 3 10 13
SPART 0 0 6 4 3 13
SYNGAP1 1 0 2 0 10 13
TBCEL-TECTA, TECTA 1 0 3 3 6 13
TMEM43 0 0 6 2 5 13
UMOD 4 1 4 0 4 13
WT1 7 0 2 0 4 13
ACTG1 1 0 1 0 10 12
CACNA1D 1 0 4 0 7 12
CHMP2B 0 1 6 1 4 12
COL18A1, SLC19A1 0 0 2 4 6 12
COL9A3 0 0 0 1 11 12
EEF1A2 0 0 0 0 12 12
FHL1 2 0 3 1 6 12
GRIN1 0 0 2 1 9 12
KLHL40 0 0 4 1 7 12
LARS2 0 0 1 2 9 12
LDB3 0 0 1 1 10 12
LDLR 5 2 2 1 2 12
LOC126806427, TTN 0 0 3 0 9 12
LOC126859838, SYNE1 1 0 8 3 0 12
LRP5 0 0 1 1 10 12
MT-RNR1 0 0 3 1 8 12
NEXMIF 0 0 2 3 7 12
NLRP3 0 1 2 1 8 12
PHGDH 0 1 1 1 9 12
SCARB2 0 0 5 2 5 12
SGCB 2 0 6 3 1 12
STXBP1 1 0 1 1 9 12
TJP2 0 0 2 0 10 12
ABCD1 0 2 6 0 3 11
ADSL 2 0 3 1 5 11
BCKDK 0 0 6 2 3 11
CAVIN1 0 0 2 5 4 11
CHSY1 0 0 2 1 8 11
CLN5 0 0 6 1 4 11
CLN6 0 0 3 2 6 11
DMP1, DSPP 0 0 0 0 11 11
EPM2A 0 0 8 0 3 11
ESR1, SYNE1 0 0 8 0 3 11
LITAF 2 0 2 1 6 11
LOC126806420, TTN 0 0 5 0 6 11
LOC126806423, TTN 1 0 6 1 3 11
MT-CO2 0 0 2 0 9 11
MUSK 0 0 5 1 5 11
OTOGL 0 0 3 0 8 11
PEX6 0 1 2 0 8 11
SLC25A22 0 0 4 4 3 11
SLC4A11 0 0 2 2 7 11
SLC9A6 0 0 4 2 5 11
STRC 0 1 4 3 3 11
SYN1 0 0 4 1 6 11
TCAP 1 1 5 2 2 11
TCF4 0 0 2 1 8 11
TUBA1A 0 0 1 2 8 11
WHRN 0 0 2 4 5 11
ATRIP, ATRIP-TREX1, TREX1 1 0 6 1 2 10
AXDND1, NPHS2 3 3 2 1 1 10
C17orf107, CHRNE 0 4 4 0 2 10
CHRNA2 0 0 5 2 3 10
CLN8 0 0 4 1 5 10
COL11A1 1 0 2 0 7 10
COL11A2 0 1 2 2 5 10
COL9A1 0 1 2 2 5 10
CRPPA 0 0 4 3 3 10
CYP11B1 1 1 3 1 4 10
DYRK1A 0 0 4 0 6 10
FLVCR1, LOC129932486 0 1 7 1 1 10
GNAO1 0 0 1 1 8 10
HCN1 0 0 2 0 8 10
HSD17B4 0 2 2 1 5 10
HSPG2, LOC126805655 0 0 7 2 1 10
IQSEC2 0 1 1 1 7 10
KCNJ10 0 0 8 2 0 10
LHCGR, STON1-GTF2A1L 3 0 2 0 5 10
LOC126806421, TTN 0 0 5 1 4 10
LOC130059818, SPG7 0 1 7 0 2 10
MYO3A 0 0 3 2 5 10
OFD1 0 0 4 1 5 10
OPHN1 0 0 4 1 5 10
RNASEH2B 1 1 1 0 7 10
SCN1B 1 0 4 2 3 10
SEPTIN9 1 0 1 2 6 10
SERPINI1 0 0 4 2 4 10
SNHG14, UBE3A 0 0 3 1 6 10
SUCLA2 0 1 3 0 6 10
TMC1 2 1 3 1 3 10
ALDH7A1 0 1 1 4 3 9
ARSA 4 0 1 0 4 9
CACNA1A, LOC126862864 0 0 7 1 1 9
CHRNA1 0 1 2 3 3 9
CLN3 1 0 1 4 3 9
FOXG1 1 0 4 3 1 9
GNE 2 0 3 0 4 9
HSD11B2 0 0 3 0 6 9
ITGA7 0 0 1 1 7 9
KCNC1 1 0 4 0 4 9
LOC110121269, SCN5A 0 1 2 0 6 9
LOC126806429, TTN 0 0 2 0 7 9
LOC126806431, TTN 0 0 5 0 4 9
LOC126859836, SYNE1 1 0 6 1 1 9
LOC129997480, SYNE1 0 0 6 2 1 9
MYO6 0 0 3 1 5 9
NR0B1 6 1 0 0 2 9
PARK7 1 0 3 2 3 9
PEX1 2 0 3 1 3 9
SCN9A 0 2 4 1 2 9
SLC26A4 0 0 4 1 4 9
THAP1 0 2 2 2 3 9
TRIOBP 0 0 3 4 2 9
UBQLN2 0 0 6 1 2 9
ANG, EGILA, RNASE4 0 0 3 1 4 8
ATP2A2 0 0 1 0 7 8
BAG3 0 0 0 1 7 8
CHAT 0 0 3 0 5 8
CHRND 0 0 3 1 4 8
CSTB 5 0 2 0 1 8
CTSD 0 0 1 1 6 8
DHCR7 1 1 0 0 6 8
EMD 2 1 1 2 2 8
FANCI, POLG 0 0 5 1 2 8
GABRA1 0 1 3 1 3 8
GABRB3 0 0 4 0 4 8
GAMT 0 0 5 2 1 8
GJB3 0 0 1 2 5 8
GLUD1 1 0 1 0 6 8
GPSM2 0 0 2 0 6 8
GRIA3 0 0 2 3 3 8
HNRNPU 0 0 1 1 6 8
KBTBD13 0 0 2 1 5 8
KCNB1 0 0 0 1 7 8
KCNJ1 2 0 0 2 4 8
LOC126807238, TRAPPC11 0 0 4 2 2 8
MCM2 0 0 3 2 3 8
MYH2, MYHAS 0 1 4 2 1 8
NHLRC1 1 0 5 0 2 8
NIPA1 1 0 4 1 2 8
PHEX, PTCHD1 5 0 2 0 1 8
PNPO 1 1 2 2 2 8
RAB7A 1 0 2 1 4 8
RAPSN 2 1 1 1 3 8
SALL1 0 0 1 0 7 8
SDHB 2 2 2 0 2 8
SHH 0 0 1 1 6 8
SLC13A5 0 0 4 1 3 8
SPG21 0 2 2 2 2 8
TMEM132E 0 0 1 1 6 8
TUBA8 0 0 3 0 5 8
VAPB 1 0 2 1 4 8
AMT 1 0 4 0 2 7
ANOS1 1 0 1 0 5 7
ATP2B2 0 0 2 1 4 7
ATP6AP2 0 0 1 1 5 7
C12orf43, HNF1A 0 1 3 1 2 7
CACNA2D2 0 0 2 3 2 7
CDKL5 1 0 2 1 3 7
CLCN1, LOC123956257 1 0 6 0 0 7
COL1A1, LOC126862586 3 0 1 0 3 7
COL4A6 0 0 1 0 6 7
COLQ 2 1 0 0 4 7
DIAPH3 0 0 2 0 5 7
DNM1 0 0 3 2 2 7
GOSR2, LRRC37A2 1 0 4 0 2 7
HOMER2 0 0 1 0 6 7
KCNJ2 2 0 1 3 1 7
LIAS 0 0 5 1 1 7
LOC126806426, TTN 0 0 4 2 1 7
LOC126806433, TTN 0 0 5 1 1 7
LOC126806913, OPA1 3 0 3 0 1 7
MFSD8 0 0 4 0 3 7
PANK2 0 0 2 3 2 7
PKD1, TSC2 1 0 0 0 6 7
PLP1, RAB9B 0 1 2 0 4 7
PROKR2 1 0 2 0 4 7
PTPN11 6 0 0 0 1 7
RELN, SLC26A5 0 0 3 0 4 7
ST3GAL3 0 0 0 1 6 7
ST3GAL5 0 1 1 1 4 7
TBL1XR1 0 0 3 0 4 7
TSPEAR 0 0 2 2 3 7
ADCY1 0 0 1 1 4 6
AFG3L2, TUBB6 0 0 4 0 2 6
ALG9 0 0 2 2 2 6
BRRIAR, ITPR1 0 0 2 2 2 6
CACNA2D2, LOC127898564 0 0 0 2 4 6
CACNB4, LOC129934925 0 0 1 2 3 6
CAV3 0 1 1 1 3 6
CNTN1 0 0 1 0 5 6
CPA6 0 0 4 1 1 6
CUL4B 0 0 2 1 3 6
ELMOD3 0 0 0 2 4 6
EPM2A, EPM2A-DT, LOC129997381 0 0 2 0 4 6
EPS8 0 0 0 0 6 6
ERCC2 0 0 1 0 5 6
FGD1 0 0 3 1 2 6
FGFR2 0 0 1 0 5 6
GABRB2 0 0 2 1 3 6
KCNQ1 0 0 4 0 2 6
KCTD7 0 0 3 2 1 6
LOC126862361, SLC12A3 2 0 2 0 2 6
LOC129935183, TTN 0 0 4 0 2 6
LOC130009366, SACS 0 0 5 0 1 6
MAF, WWOX 0 0 2 0 4 6
MET 0 0 1 0 5 6
MITF 0 0 0 2 4 6
NARS2 0 0 3 0 3 6
NDE1 1 0 3 0 2 6
PEX7 1 1 2 1 1 6
PRIMA1 0 0 2 1 3 6
RBFOX1 0 0 1 2 3 6
RNASEH2A 0 0 3 0 3 6
SLITRK6 0 0 0 0 6 6
SMC1A 0 0 1 1 4 6
SNAP29 1 0 1 4 0 6
SPTLC1 2 0 1 0 3 6
STAR 3 1 0 0 2 6
STX1B 0 0 0 0 6 6
VHL 3 1 0 0 2 6
WDR45 0 1 1 2 2 6
ACTB 1 0 0 0 4 5
ATP1A2, LOC126805890 0 0 4 0 1 5
ATP6V1B1 0 0 1 0 4 5
BBS1, ZDHHC24 1 0 0 0 4 5
BICD2 0 0 4 0 1 5
CATIP, PNKD 0 0 1 0 4 5
CC2D2A 0 0 0 1 4 5
CDKL5, RS1 0 0 2 0 3 5
CHKB, CHKB-CPT1B 0 0 2 1 2 5
CHRNB1 1 0 1 0 3 5
CHRNE 0 1 0 0 4 5
CLDN14 0 0 0 1 4 5
CPAP, RNF17 0 0 2 1 2 5
DIAPH1 0 0 1 1 3 5
EDNRB 0 0 0 1 4 5
EIF2B3 0 0 1 1 3 5
EPS8L2 0 0 3 0 2 5
ESRRB 0 0 1 0 4 5
GCH1, LOC130055692 1 1 1 0 2 5
GFPT1 0 1 0 0 4 5
GH-LCR, GH1 2 0 0 0 3 5
GHR 0 0 0 0 5 5
GPC3 0 0 2 0 3 5
GRN, LOC125177489 0 2 0 1 2 5
HSD3B2 3 0 0 2 0 5
ILDR1 0 0 0 0 5 5
INS, INS-IGF2 1 0 1 0 3 5
KCNA2 0 0 1 1 3 5
KCNQ4 0 0 0 2 3 5
KIF1A, LOC126806583 0 0 2 1 2 5
KISS1R 0 0 1 0 4 5
KLHL9 0 0 2 1 2 5
LGI1 0 0 1 2 2 5
MHRT, MYH7 0 0 2 2 1 5
OSBPL2 0 0 3 0 2 5
OTOA 0 0 2 1 2 5
PNPT1 0 1 2 0 2 5
POLR1D 0 0 0 0 5 5
POMGNT2 0 0 1 2 2 5
PPT1 1 0 2 0 2 5
PROP1 1 0 0 0 4 5
RXYLT1 0 0 2 0 3 5
SEMA3E 0 0 0 1 4 5
SIGMAR1 0 0 3 0 2 5
SLC35A2 0 0 1 2 2 5
SRPX2 0 0 1 0 4 5
TACR3 0 0 0 1 4 5
TIA1 0 1 1 0 3 5
TUBB2B 0 0 2 0 3 5
USH1C 0 0 0 1 4 5
ABHD12 0 0 0 2 2 4
AQP2 2 2 0 0 0 4
ARFGEF1-DT, CPA6 0 0 0 0 4 4
ARHGEF9 0 0 2 2 0 4
ARX 0 1 0 0 3 4
BIN1 0 0 1 2 1 4
BSND 0 0 1 0 3 4
C10orf105, CDH23 0 0 0 0 4 4
CACNA1A, LOC126862865 2 0 2 0 0 4
CCDC50 0 0 1 0 3 4
CEACAM16 0 0 2 0 2 4
CHRNA4, LOC100130587 0 0 1 1 2 4
CLCNKB 2 0 0 0 2 4
CLPP 0 0 0 0 4 4
CRPPA, LOC129998005 0 1 0 1 2 4
CRYAB 0 0 2 0 2 4
CTSD, PRADX 0 0 0 2 2 4
CYP21A2, LOC106780800, TNXB 2 0 0 1 1 4
DCDC2 0 0 0 0 4 4
DNAJC5 0 0 0 0 4 4
EIF2B5 1 0 2 0 1 4
FOLR1 0 1 0 0 3 4
FOXI1 0 0 0 2 2 4
GATM 0 0 1 1 2 4
GNRHR 2 0 0 0 2 4
HSPB3 0 0 0 1 3 4
KDM5C 0 0 1 1 2 4
LAMA2, LOC123864065 0 0 3 0 1 4
LDB3, LOC110121486 2 0 0 0 2 4
LMNA, LOC129931597 0 0 3 0 1 4
LOC126860131, RELN 0 0 2 0 2 4
LOC126860531, NDRG1 0 0 1 0 3 4
LOC126860782, SETX 0 0 1 1 2 4
LOC126861509, PRICKLE1 0 0 2 0 2 4
LOC126862902, RYR1 0 0 1 1 2 4
LOC130001338, PLEC 0 0 0 1 3 4
LOC130001342, PLEC 0 0 3 0 1 4
LOC130056709, NIPA1 0 0 3 1 0 4
LOC130063807, NOTCH3 0 0 3 1 0 4
LOC130065345, PANK2 0 0 1 0 3 4
MANBA 0 0 1 0 3 4
MARVELD2 0 0 3 0 1 4
MEF2C 1 0 2 1 0 4
MTM1 2 0 1 0 1 4
P2RX2 0 0 0 1 3 4
PIGV 0 0 2 2 0 4
POLR2F, SOX10 0 1 1 1 1 4
SAMHD1 0 0 1 1 2 4
SERPINB6 0 0 2 1 1 4
SLC25A4 1 0 0 0 3 4
SLC26A5 0 0 3 0 1 4
SOD1, SOD1-DT 2 1 1 0 0 4
TMPRSS3 0 1 0 1 2 4
UBA1 0 0 0 1 3 4
USH1G 0 0 2 0 2 4
ANKH 0 0 0 2 1 3
BBS10 1 0 1 0 1 3
BBS2 1 0 0 0 2 3
CACNA1A, LOC126862866 0 0 1 1 1 3
CASK 0 0 1 0 2 3
CCM2, LOC129998395 2 1 0 0 0 3
CEP290 0 0 0 1 2 3
CLIC5 0 0 0 1 2 3
COL9A3, LOC126863084 0 0 1 0 2 3
CRH 0 0 0 0 3 3
CSTB, LOC130066788 0 1 1 0 1 3
CYP17A1 0 0 0 0 3 3
DCX 0 0 2 0 1 3
DMAC2L, L2HGDH 0 0 1 0 2 3
DNMT1 0 0 1 0 2 3
EIF2B4, GTF3C2 0 0 0 0 3 3
EMX2 0 0 1 0 2 3
ERCC3 0 0 1 0 2 3
EYA1 0 0 0 0 3 3
FA2H, LOC130059394 0 0 3 0 0 3
FGD1, TSR2 0 0 1 1 1 3
FGF23 0 0 0 0 3 3
GATAD1, PEX1 0 0 2 0 1 3
GDAP1, LOC130000622 0 1 0 1 1 3
GJC2 0 0 1 0 2 3
GRHL2 0 0 0 0 3 3
GRXCR2 0 0 0 0 3 3
GSDME 0 0 1 1 1 3
HOXB1 0 0 1 0 2 3
KARS1 0 0 1 0 2 3
KCNC3, LOC111811967 0 0 0 0 3 3
KCTD7, LOC129998533 0 0 3 0 0 3
KIRREL2, NPHS1 0 0 2 1 0 3
KMT2D, LOC126861520 1 0 0 0 2 3
LMNA, LOC126805877 0 0 0 0 3 3
LOC107303340, VHL 2 0 1 0 0 3
LOC108903148, OPTN 0 0 1 0 2 3
LOC112872299, RAB7A 0 0 2 0 1 3
LOC126805688, YARS1 0 0 3 0 0 3
LOC126860498, WASHC5 0 0 0 0 3 3
LOC126861897, MHRT, MYH7 0 0 2 0 1 3
LOC126862279, RBFOX1 0 0 1 1 1 3
LOC129992585, SGCB 0 0 2 1 0 3
LOC130001334, PLEC 0 0 2 0 1 3
LOC130001681, SIGMAR1 0 0 1 0 2 3
LOC130009747, SUCLA2 0 0 2 0 1 3
LOC130056973, SPG11 1 0 0 2 0 3
LOC130064454, PRX 0 0 2 0 1 3
LOC130068339, UBQLN2 0 0 2 0 1 3
ME2 0 0 3 0 0 3
MIF4GD-DT, SLC25A19 0 0 1 0 2 3
MIR6511B1, PKD1 0 0 2 0 1 3
PAFAH1B1 0 0 2 0 1 3
PAK3 0 0 0 1 2 3
PAX3 0 0 0 0 3 3
PDHA1 0 0 2 0 1 3
PIGA 0 0 1 0 2 3
POLR1C 0 0 1 0 2 3
POMGNT1 0 0 2 0 1 3
POU4F3, RBM27-POU4F3 0 0 1 0 2 3
PQBP1 0 0 0 0 3 3
RDX 0 0 1 1 1 3
RNASEH2C 0 0 0 1 2 3
ROR1 0 0 0 0 3 3
S1PR2 0 0 0 1 2 3
SIX5 0 0 2 0 1 3
SLC17A8 0 0 1 0 2 3
SLC25A19 0 0 1 1 1 3
SNAP25 0 0 1 1 1 3
SOS1 1 0 1 1 0 3
SPTLC2 1 0 0 0 2 3
SYNE4 0 0 0 2 1 3
TNNT1 0 0 0 1 2 3
TPM3 1 1 0 1 0 3
ACAD9 2 0 0 0 0 2
ACTA1 0 0 1 0 1 2
AIFM1, RAB33A 0 0 0 0 2 2
ALG14 1 0 1 0 0 2
ANAPC15, LRTOMT, TOMT 0 0 1 0 1 2
AP5Z1, LOC129997861 0 0 1 1 0 2
ATP2A2, LOC126861638 0 0 0 1 1 2
ATP7A 0 0 2 0 0 2
BBS1 0 0 1 0 1 2
BCS1L 0 0 0 0 2 2
CACNA2D2, LOC101928965, LOC127898564 0 0 0 2 0 2
CAPN3, LOC126862115 1 0 1 0 0 2
CDAN1 0 1 1 0 0 2
CDC14A 0 0 0 0 2 2
CEMIP, LOC126862194 0 0 1 0 1 2
CHD7, LOC126860403 0 0 0 1 1 2
CHRNA4, LOC126863087 0 0 2 0 0 2
CHRNE, LOC130060040 0 0 2 0 0 2
CHSY1, LOC130058068 0 0 0 0 2 2
CIB2 0 0 0 1 1 2
CLRN1 0 0 0 1 1 2
COCH 0 0 1 0 1 2
COL4A3, LOC129935730 0 0 1 0 1 2
COQ2 0 0 2 0 0 2
CUBN 0 0 2 0 0 2
CUL4B, LOC113845788 0 0 2 0 0 2
CYP11B1, LOC110673972 0 0 2 0 0 2
CYP21A2, LOC106780800, LOC110631417 0 0 0 0 2 2
DEAF1, LOC126861109 0 0 0 0 2 2
DPAGT1, LOC126861360 0 0 1 1 0 2
DPM2 0 0 0 0 2 2
DYNC1H1, LOC126862060 0 0 1 0 1 2
ECHS1 1 0 1 0 0 2
EIF2B4 0 0 0 0 2 2
ESPN 0 0 0 0 2 2
FGF3 0 0 0 0 2 2
FKBP14 1 0 1 0 0 2
GAA 0 0 2 0 0 2
GBA1, LOC106627981 2 0 0 0 0 2
GIPC3 0 0 1 0 1 2
GMPPB 0 0 2 0 0 2
GOSR2, LOC126862578, LRRC37A2 0 0 1 0 1 2
GRXCR1 0 0 0 0 2 2
HGF 0 0 1 0 1 2
ITGA7, LOC126861535 0 0 1 0 1 2
KCNA1, LOC130007218 0 0 1 1 0 2
LARS1 0 0 2 0 0 2
LEPR, LOC122094844 0 0 1 0 1 2
LOC107982234, WT1 0 0 0 0 2 2
LOC112533671, TSEN54 0 0 0 0 2 2
LOC112840921, OTOF 0 0 0 1 1 2
LOC122152296, USH2A 0 0 1 1 0 2
LOC125467768, PCDH19 0 1 0 0 1 2
LOC126806373, NEB 0 0 0 0 2 2
LOC126860130, RELN, SLC26A5 0 0 0 0 2 2
LOC126862278, RBFOX1 0 0 0 0 2 2
LOC126863145, TRIOBP 0 0 0 1 1 2
LOC129995449, SQSTM1 0 0 1 0 1 2
LOC130067862, SCO2, TYMP 0 0 0 0 2 2
LOC130068621, NDUFA1 0 0 0 0 2 2
LZTR1 1 1 0 0 0 2
MATR3 1 0 0 0 1 2
MIR3936HG, SLC22A4 0 0 0 0 2 2
MIR6084, PINK1 0 0 1 0 1 2
MIR96 0 0 0 0 2 2
MPV17 1 1 0 0 0 2
MT-TK 0 0 1 1 0 2
MT-TS2 0 0 1 0 1 2
NOC3L, PLCE1 0 0 2 0 0 2
NPC1 0 1 1 0 0 2
NR2F1 0 0 0 0 2 2
NR3C2 2 0 0 0 0 2
PCCB 0 2 0 0 0 2
PDCD10 1 1 0 0 0 2
PFN1 0 0 2 0 0 2
PROK2 1 0 1 0 0 2
PURA 0 0 1 0 1 2
RARS2 0 1 1 0 0 2
RRM2B 0 0 1 0 1 2
SGCE 0 0 2 0 0 2
SHANK3 0 0 0 0 2 2
SLC19A2 0 0 1 0 1 2
SMS 0 0 1 0 1 2
TFAP2A 0 0 0 0 2 2
TGFBR2 0 0 1 0 1 2
TK2 0 0 0 0 2 2
TMEM67 0 0 0 0 2 2
TMEM70 1 0 1 0 0 2
TPM2 0 0 0 1 1 2
TPRN 0 0 1 0 1 2
TYMP 0 0 0 0 2 2
VRK1 0 0 0 0 2 2
​intergenic 0 0 0 0 1 1
ABCA3 0 1 0 0 0 1
ABCC8, KCNJ11 0 0 0 0 1 1
ACTC1, GJD2-DT 0 0 1 0 0 1
ACTG1, LOC130061940 0 0 0 0 1 1
ADA 1 0 0 0 0 1
ADGRV1, LOC129994205 0 0 0 1 0 1
ADNP 1 0 0 0 0 1
AGRN, LOC126805576 0 0 0 0 1 1
AHI1 0 0 0 0 1 1
AKT2 0 0 1 0 0 1
ALMS1, LOC126806252 0 0 1 0 0 1
AMT, NICN1 0 0 0 0 1 1
ANGPT2, MCPH1 0 0 1 0 0 1
ANKRD11, TRAPPC2L 0 0 0 1 0 1
APOB 1 0 0 0 0 1
ARID1A 0 0 1 0 0 1
ARSL 1 0 0 0 0 1
ARX, LOC109610631 1 0 0 0 0 1
ASAH1, LOC129999940 0 0 1 0 0 1
ASPM, LOC129932155 0 0 0 0 1 1
ASXL1 1 0 0 0 0 1
ATL1, MAP4K5 0 0 0 0 1 1
ATN1 0 0 1 0 0 1
ATP13A2, LOC129929540 0 0 0 1 0 1
ATP1A3, LOC130064543 0 0 0 0 1 1
ATP6V1B2 0 0 0 0 1 1
B3GNT4, DIABLO 0 0 0 0 1 1
B4GAT1 0 0 1 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 0 0 1 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
CABP2 0 0 0 0 1 1
CACNA2D2, CYB561D2, LOC127898564 0 0 1 0 0 1
CAV3, SSUH2 1 0 0 0 0 1
CCNF, TBC1D24 0 0 0 1 0 1
CEMIP, MESD 0 0 0 0 1 1
CFL2 0 0 0 1 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CHRNA7 0 0 0 1 0 1
CHRNB1, LOC130060147 0 0 1 0 0 1
CHRNE, LOC130060041 0 0 0 1 0 1
CISD2, LOC129992892 0 0 0 1 0 1
CIZ1, DNM1 0 0 0 0 1 1
CLCC1, GPSM2 0 0 0 0 1 1
CLCN1, FAM131B 1 0 0 0 0 1
CLN5, LOC130009913 0 0 0 0 1 1
CNTNAP1 1 0 0 0 0 1
CNTNAP2, LOC126860216 0 0 0 1 0 1
COG4 1 0 0 0 0 1
COL11A1, LOC126805814 0 0 0 0 1 1
COL3A1 0 0 0 0 1 1
COL5A2 0 0 1 0 0 1
COL6A3, LOC126806573 0 0 0 0 1 1
COL7A1 1 0 0 0 0 1
CPT2, LOC129930561 0 0 1 0 0 1
CREBBP 0 0 1 0 0 1
CRH, LOC130000523 0 0 0 1 0 1
CRYL1, IFT88 0 0 1 0 0 1
CRYM 0 0 0 0 1 1
CYP21A2 0 0 1 0 0 1
CYP21A2, TNXB 0 0 1 0 0 1
DCDC2, KAAG1 0 0 1 0 0 1
DGUOK 0 0 1 0 0 1
DLX5 0 0 1 0 0 1
DM1, LOC107075317, SIX5 0 0 0 0 1 1
DNM1, LOC113839516 0 0 0 0 1 1
DOCK7, LOC129930655 0 0 1 0 0 1
DOCK8 0 1 0 0 0 1
DPAGT1 0 0 1 0 0 1
DSP 0 1 0 0 0 1
DYSF, LOC122787137 0 0 0 0 1 1
EDN3 0 0 0 0 1 1
EEF1A2, LOC132090595 0 0 0 0 1 1
EMX2, EMX2OS 0 0 0 0 1 1
ESPN, LOC129929241 0 0 1 0 0 1
ETHE1 1 0 0 0 0 1
EYA4, TARID 0 0 1 0 0 1
F13A1 1 0 0 0 0 1
FAM171A2, GRN 1 0 0 0 0 1
FBN1 0 0 0 0 1 1
FGF8 0 0 0 0 1 1
FLNC, LOC129999273 0 0 0 0 1 1
FOXC2 0 1 0 0 0 1
FOXP3 1 0 0 0 0 1
GAMT, LOC130062945 0 0 0 0 1 1
GATA3 0 0 0 0 1 1
GATA3, LOC130003278 0 0 0 0 1 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 1
GLUD1, LOC130004254 0 0 0 0 1 1
GLUD1, SHLD2 0 0 0 1 0 1
GNAI3 0 1 0 0 0 1
GNRH1 0 0 0 0 1 1
GRHL2, LOC126860461 0 0 0 0 1 1
GRM1, LOC126859821 0 0 0 0 1 1
HADH 0 0 1 0 0 1
HADHB 0 1 0 0 0 1
HPGD 1 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HSD17B10 0 0 1 0 0 1
IFIH1 0 0 1 0 0 1
IGHMBP2, LOC126861245 0 0 0 0 1 1
INS, TH 0 0 0 0 1 1
JAG1 0 0 1 0 0 1
KARS1, LOC126862402 0 0 1 0 0 1
KCNE1 0 0 0 1 0 1
KCNH5 1 0 0 0 0 1
KCNQ5 0 1 0 0 0 1
KDM6A 0 0 1 0 0 1
KIFBP, LOC130003959 0 0 1 0 0 1
KRT1 1 0 0 0 0 1
LAMA2, LOC126859784 0 0 1 0 0 1
LIAS, LOC112939935 0 0 0 1 0 1
LMNB2, LOC130063065 0 0 0 0 1 1
LMNB2, LOC130063066 0 0 0 0 1 1
LMNB2, MIR7108 0 0 0 0 1 1
LOC108021846, SOX9 0 1 0 0 0 1
LOC114803470, SCN8A 0 0 0 0 1 1
LOC123956210, SLC26A4 0 0 0 0 1 1
LOC126653398, TSPEAR 0 0 0 1 0 1
LOC126806878, TBL1XR1 0 0 0 0 1 1
LOC126859871, PRKN 0 0 0 0 1 1
LOC126861898, MYH7 0 0 0 1 0 1
LOC126862500, MYH2, MYHAS 0 0 1 0 0 1
LOC126862757, TCF4 0 0 0 0 1 1
LOC126863207, MID1 1 0 0 0 0 1
LOC129929426, MFN2 0 0 0 0 1 1
LOC129930446, MMACHC 1 0 0 0 0 1
LOC129933334, OTOF 0 0 1 0 0 1
LOC129934236, ST3GAL5 0 0 0 0 1 1
LOC129935184, TTN 0 0 0 0 1 1
LOC129935185, TTN 0 0 0 0 1 1
LOC129935186, TTN 0 0 1 0 0 1
LOC129936665, SETD2 0 0 1 0 0 1
LOC130002651, STXBP1 0 0 0 0 1 1
LOC130003093, TPRN 0 0 0 1 0 1
LOC130006061, RNASEH2C 0 0 0 0 1 1
LOC130059156, TK2 0 0 0 1 0 1
LOC130062084, SMCHD1 0 0 0 0 1 1
LOC130064357, RYR1 0 0 0 0 1 1
LOC130067864, TYMP 0 0 1 0 0 1
LOC130068746, SLC9A6 0 0 0 0 1 1
LRRC51, LRTOMT 0 0 1 0 0 1
LRTOMT 0 0 0 0 1 1
MASP2, TARDBP 1 0 0 0 0 1
MED12 0 0 1 0 0 1
MIR1225, PKD1, TSC2 1 0 0 0 0 1
MIR6766, POLG 0 0 0 0 1 1
MIR6795, NOTCH3 1 0 0 0 0 1
MMACHC 1 0 0 0 0 1
MPDZ 0 0 1 0 0 1
MSRB3 0 0 1 0 0 1
MT-CO1, MT-TQ 0 0 0 0 1 1
MT-RNR1, RNR1 0 0 0 0 1 1
MT-TI 0 0 1 0 0 1
MT-TQ 0 0 0 0 1 1
MT-TS1 0 0 0 0 1 1
MYH11, NDE1 0 0 1 0 0 1
NALCN 0 1 0 0 0 1
NDP 0 0 1 0 0 1
NDUFAF5 1 0 0 0 0 1
NDUFB3 1 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 1
NKX2-5 0 0 1 0 0 1
NSD1 1 0 0 0 0 1
OTC 1 0 0 0 0 1
PACRG, PRKN 1 0 0 0 0 1
PAX6 0 0 1 0 0 1
PHF6 0 0 1 0 0 1
PHKA2 1 0 0 0 0 1
PI4KA, SNAP29 0 0 0 0 1 1
PJVK 0 0 0 0 1 1
PKP2 1 0 0 0 0 1
PLD3, PRX 0 0 0 0 1 1
POU1F1 0 0 0 0 1 1
PRPS1 0 0 0 0 1 1
PRRT2 0 0 1 0 0 1
PTEN 1 0 0 0 0 1
RAB39B 0 0 1 0 0 1
RAF1 1 0 0 0 0 1
S100PBP, YARS1 0 0 0 0 1 1
SAMHD1, TLDC2 0 0 0 1 0 1
SHANK2 0 0 0 0 1 1
SHOC2 1 0 0 0 0 1
SIX1 0 0 0 1 0 1
SLC22A4 0 0 0 1 0 1
SMARCA4 0 1 0 0 0 1
SNAI2 0 0 1 0 0 1
SPTA1 0 1 0 0 0 1
SYP 0 0 0 0 1 1
TGFBR1 0 0 0 0 1 1
TMEM216 0 0 0 0 1 1
TPI1 0 0 1 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 0 1
ZNF507 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 84
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2231 877 7852 1657 3475 16089
not specified 0 0 1191 1158 4530 6879
Duchenne muscular dystrophy 62 0 0 0 0 62
Tuberous sclerosis 2 34 4 0 0 20 58
Tuberous sclerosis 1 19 0 0 0 5 24
Polycystic kidney disease, adult type 0 0 0 0 23 23
Severe myoclonic epilepsy in infancy 22 0 0 0 0 22
Autosomal recessive limb-girdle muscular dystrophy type 2A 9 0 0 0 1 10
Familial hypokalemia-hypomagnesemia 0 0 0 0 10 10
Merosin deficient congenital muscular dystrophy 0 0 0 0 10 10
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 0 0 10 10
Neuropathy, hereditary sensory and autonomic, type 2A 0 0 0 0 10 10
Brain small vessel disease 1 with or without ocular anomalies 0 0 0 0 9 9
Autosomal recessive limb-girdle muscular dystrophy type 2B 7 1 0 0 0 8
Charcot-Marie-Tooth disease type 4F 0 0 0 0 6 6
Cortical dysplasia-focal epilepsy syndrome 0 0 0 0 6 6
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 0 0 0 0 6 6
Juvenile myoclonic epilepsy 0 0 0 0 6 6
Smith-Magenis syndrome 0 0 0 0 6 6
Bardet-Biedl syndrome 1 0 0 0 0 5 5
Smith-Lemli-Opitz syndrome 0 0 0 0 5 5
Spinocerebellar ataxia type 5 0 0 0 0 5 5
Autosomal recessive Alport syndrome 0 0 0 0 4 4
Autosomal recessive distal spinal muscular atrophy 1 0 0 0 0 4 4
CARASIL syndrome 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 1B 4 0 0 0 0 4
Charcot-Marie-Tooth disease type 2A2 3 1 0 0 0 4
Finnish congenital nephrotic syndrome 0 0 0 0 4 4
Focal segmental glomerulosclerosis 1 0 0 0 0 4 4
Hereditary spastic paraplegia 11 0 0 0 0 4 4
Hyperinsulinemic hypoglycemia, familial, 2 0 0 0 0 4 4
Myofibrillar myopathy 6 0 0 0 0 4 4
Rett syndrome 4 0 0 0 0 4
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 0 0 3 3
Autosomal recessive limb-girdle muscular dystrophy type 2L 3 0 0 0 0 3
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 2 0 0 0 3
Focal segmental glomerulosclerosis 2 0 0 0 0 3 3
Hereditary spastic paraplegia 7 0 0 0 0 3 3
Hyperinsulinemic hypoglycemia, familial, 1 0 0 0 0 3 3
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 0 0 3 3
Laron-type isolated somatotropin defect 0 0 0 0 3 3
Seizures, benign familial neonatal, 1 0 0 0 0 3 3
Alzheimer disease 4 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 6 0 0 0 0 2 2
Autosomal dominant optic atrophy classic form 0 0 0 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2I 2 0 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2C 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 4B1 0 0 0 0 2 2
Charcot-Marie-Tooth disease, type IA 1 1 0 0 0 2
Cohen syndrome 0 0 0 0 2 2
Dilated cardiomyopathy 1A 1 1 0 0 0 2
Encephalopathy due to GLUT1 deficiency 0 0 0 0 2 2
Febrile seizures, familial, 8 0 0 0 0 2 2
Focal segmental glomerulosclerosis 5 0 0 0 0 2 2
Hereditary spastic paraplegia 8 0 0 0 0 2 2
Hyperinsulinism-hyperammonemia syndrome 0 0 0 0 2 2
Lafora disease 0 0 0 0 2 2
Metachromatic leukodystrophy 0 0 0 0 2 2
Myoclonic dystonia 11 0 0 0 0 2 2
Nephrotic syndrome, type 2 0 0 0 0 2 2
Paroxysmal nonkinesigenic dyskinesia 1 0 0 0 0 2 2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 0 0 0 0 1 1
Adrenoleukodystrophy 0 0 0 0 1 1
Autosomal recessive early-onset Parkinson disease 6 0 0 0 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 0 0 0 0 1
Bardet-Biedl syndrome 10 0 0 0 0 1 1
Bardet-Biedl syndrome 2 0 0 0 0 1 1
Bartter disease type 4A 0 0 0 0 1 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease X-linked dominant 1 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 1C 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2B1 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4A 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4J 1 0 0 0 0 1
Developmental and epileptic encephalopathy 112 1 0 0 0 0 1
Familial partial lipodystrophy, Dunnigan type 1 0 0 0 0 1
Hereditary spastic paraplegia 31 0 0 0 0 1 1
Intellectual disability, autosomal dominant 46 0 1 0 0 0 1
Migraine, familial hemiplegic, 2 0 0 0 0 1 1
Obesity due to leptin receptor gene deficiency 0 0 0 0 1 1

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