ClinVar Miner

Variants studied for auditory system disease

Included ClinVar conditions (548):
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 affects association drug response risk factor other not provided total
4690 2415 13955 3864 3165 41 11 2 1 8 56 26529

Gene and significance breakdown #

Total genes and gene combinations: 495
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response risk factor other not provided total
ALMS1 237 154 893 564 97 0 0 0 0 0 2 1862
USH2A 192 228 530 102 95 0 0 0 0 0 0 1058
COL4A5 852 141 59 10 26 0 0 0 0 0 1 1056
CHD7 260 63 416 165 70 0 0 0 0 0 1 941
MYO7A 108 206 506 114 70 0 0 0 0 0 2 834
FLNA 45 11 385 239 123 0 0 0 0 0 1 801
NF2 100 25 460 164 48 0 0 0 0 0 0 778
CDH23 49 33 484 74 72 0 0 0 0 0 2 623
GATA2 25 9 378 146 30 0 0 0 0 0 0 579
PCDH15 28 89 386 42 33 0 0 0 0 0 0 551
COL4A4 46 118 287 62 52 0 0 0 0 0 0 536
ADGRV1 41 30 360 35 67 0 0 0 0 0 0 518
FRAS1 50 7 288 46 122 0 0 0 0 0 0 507
DNMT1 7 6 264 154 65 0 0 0 0 0 0 462
SLC26A4 115 140 212 36 24 41 0 0 0 8 1 452
COL4A3, MFF-DT 58 151 210 32 53 0 0 0 0 0 0 451
MYO15A 79 42 289 16 36 0 0 0 0 0 1 432
FREM2 12 2 252 32 81 0 0 0 0 0 0 377
LOXHD1 14 18 297 59 31 0 0 0 0 0 2 359
DIAPH1 8 5 232 88 27 0 0 0 0 0 0 352
OTOF 92 23 183 30 29 0 7 0 0 0 0 333
ERCC4 11 5 213 62 41 0 0 0 0 0 0 318
SPATA5 42 14 196 61 10 0 0 0 0 0 0 318
TBC1D24 29 12 166 76 16 0 0 0 0 0 1 295
GJB2 108 87 110 32 35 0 0 0 0 0 1 273
WFS1 43 12 121 44 62 0 0 0 0 0 2 270
USH1C 23 39 160 22 21 0 0 0 0 0 0 248
MYH14 6 1 161 30 50 0 0 0 0 0 2 245
OFD1 139 12 49 16 29 0 0 0 0 0 0 242
ERCC6 27 56 125 22 25 0 0 0 0 0 0 240
KCNJ10 15 5 166 43 23 0 0 0 0 0 1 216
HSD17B4 31 9 52 103 24 0 0 0 0 0 1 207
MYH9 3 0 120 49 36 0 0 0 0 0 1 207
TBCEL-TECTA, TECTA 21 12 155 36 29 0 0 0 0 0 0 203
MYO6 13 5 158 35 52 0 0 0 0 0 0 197
SLC29A3 22 4 111 38 30 0 0 0 0 0 0 195
COL11A1 10 8 112 35 24 0 0 0 0 0 1 189
TBX1 14 1 118 40 17 0 0 0 0 0 0 188
COL2A1 40 15 72 25 33 0 0 0 0 0 0 184
TCOF1 67 7 26 43 45 0 0 0 0 0 1 183
COL11A2 11 6 90 62 15 0 0 0 0 0 3 182
EYA1 49 5 68 22 45 0 0 0 0 0 0 182
HARS1 2 1 130 32 10 0 0 0 0 0 0 173
MITF 31 17 69 13 41 0 0 0 0 0 0 159
KCNQ1 21 6 82 22 19 0 0 0 0 0 4 154
MYO3A 8 4 112 11 19 0 0 0 0 0 0 150
RFT1 8 2 107 17 22 0 0 0 0 0 0 147
WHRN 7 1 114 15 24 0 0 0 0 0 0 145
SEMA3E 1 0 91 36 13 0 0 0 0 0 0 141
PTPN11 36 2 66 4 28 0 0 0 0 0 0 136
BIVM-ERCC5, ERCC5 16 2 79 16 27 0 0 0 0 0 0 130
TMPRSS3 15 19 77 7 13 0 0 0 0 0 0 123
POLR2F, SOX10 47 26 31 8 12 0 0 0 0 0 0 121
CLRN1 17 18 64 12 8 0 0 0 0 0 0 112
KCNE1 6 1 64 17 26 0 0 0 0 0 0 112
GATA3 23 3 49 2 33 0 0 0 0 0 1 110
PAX3 39 30 28 6 16 0 0 0 0 0 0 110
ERCC2 18 3 73 8 8 0 0 0 0 0 0 107
GRIP1 3 1 74 20 10 0 0 0 0 0 0 106
FGF9 2 0 67 4 32 0 0 0 0 0 0 105
ERCC8 18 26 49 4 13 0 0 0 0 0 0 104
CPLANE1 22 5 26 12 38 0 0 0 0 0 0 103
ATP6V0A4 16 7 52 2 26 0 0 0 0 0 0 100
COG1 5 0 67 23 14 0 0 0 0 0 0 98
TMC1 23 19 56 11 13 0 0 0 0 0 0 97
RDX 8 1 81 2 0 0 0 0 0 0 0 92
SALL1 35 4 26 12 23 0 0 0 0 0 0 92
ATP6V1B1 13 3 55 9 18 0 0 0 0 0 0 91
GJB1 53 11 12 3 6 0 0 0 0 0 0 84
USH1G 10 6 50 12 7 0 0 0 0 0 0 83
RAF1 8 3 42 6 24 0 0 0 0 0 0 82
SLC19A2 14 1 53 1 12 0 0 0 0 0 0 81
ESRRB 5 2 63 3 7 0 0 0 0 0 0 79
LHFPL5 8 3 62 3 5 0 0 0 0 0 0 79
SLC17A8 2 0 57 8 13 0 0 0 0 0 0 79
GSDME 4 2 34 15 21 0 0 0 0 0 0 75
C10orf105, CDH23 7 3 59 12 9 0 0 0 0 0 0 73
SIX1 9 3 33 20 20 0 0 0 0 0 0 72
SERAC1 17 7 33 7 13 0 0 0 0 0 0 71
ERCC3 10 2 42 4 13 0 0 0 0 0 0 70
EYA4, TARID 1 3 43 7 15 0 0 0 0 0 0 69
ABHD12 10 3 39 2 13 0 0 0 0 0 0 67
CLDN14 8 6 46 5 7 0 0 0 0 0 0 67
OTOG 9 10 39 2 3 0 0 0 0 0 1 63
SLC4A11 9 1 14 14 24 0 0 0 0 0 0 62
ACTG1 8 5 7 17 23 0 0 0 0 0 0 59
BRAF 5 3 31 5 13 0 0 0 0 0 1 56
ERCC6, ERCC6-PGBD3 6 17 24 5 6 0 0 0 0 0 0 56
GPSM2 8 3 37 8 2 0 0 0 0 0 0 56
MARVELD2 5 7 45 0 2 0 0 0 0 0 0 56
TRIOBP 15 8 24 4 7 0 0 0 0 0 1 56
BSND 10 2 31 2 12 0 0 0 0 0 0 55
FOXI1 2 0 44 4 6 0 0 0 0 0 0 55
CHSY1 6 0 25 5 17 0 0 0 0 0 0 53
MT-TT 1 0 6 10 36 0 0 0 0 0 0 53
HOXA1 4 0 40 4 2 0 0 0 0 0 0 50
PDK3 1 0 30 13 5 0 0 0 0 0 0 49
PJVK 8 4 37 1 0 0 0 0 0 0 0 49
TCTN3 10 2 15 11 9 0 0 0 0 0 0 47
COCH, LOC100506071 13 5 15 9 10 0 0 0 0 0 0 46
PIGL 4 0 36 2 5 0 0 0 0 0 0 44
PRPS1 15 1 18 3 8 0 0 0 0 0 0 44
TMIE 7 2 32 3 2 0 0 0 0 0 0 43
POLR1C 6 4 29 1 3 0 0 0 0 0 0 42
KCNQ4 26 5 6 1 5 0 0 0 0 0 0 40
POLD1 1 0 38 1 0 0 0 0 0 0 0 40
POU4F3 6 4 23 2 5 0 0 0 0 0 0 39
EYA4 5 2 17 4 9 0 0 0 0 0 0 37
HOXA2 1 0 33 1 1 0 0 0 0 0 0 36
FLNA, LOC107988032 3 1 22 4 5 0 0 0 0 0 0 35
CDH23, PSAP 0 0 23 14 12 0 0 0 0 0 0 34
POU3F4 19 0 7 2 6 0 0 0 0 0 1 34
GDF5 2 0 9 3 19 0 0 0 0 0 0 33
MT-TH 2 1 12 4 15 0 0 0 0 0 0 33
GRXCR1 6 4 18 1 5 0 0 0 0 0 0 31
MT-TF 3 2 5 6 15 0 0 0 0 0 0 31
MT-TL1 12 3 6 4 6 0 0 0 0 0 0 31
MT-TW 5 0 8 5 13 0 0 0 0 0 0 31
ANAPC15, LRTOMT, TOMT 0 1 27 0 1 0 0 0 0 0 0 29
MT-TC 1 0 6 4 19 0 0 0 0 0 0 29
DCDC2 3 2 10 8 5 0 0 0 0 0 0 28
MT-TG 0 1 11 5 11 0 0 0 0 0 0 28
MT-TK 5 2 5 7 10 0 0 0 0 0 0 28
PDZD7 12 6 16 0 0 0 0 0 1 0 0 28
STRC 13 8 6 0 1 0 0 0 0 0 3 28
MAF 10 1 9 5 2 0 0 0 0 0 0 27
MT-TD 0 1 9 6 11 0 0 0 0 0 0 27
MT-TQ 1 1 4 4 17 0 0 0 0 0 0 27
MT-TV 2 3 10 6 5 0 0 0 0 0 0 26
AIFM1, RAB33A 9 16 3 1 1 0 0 0 0 0 0 25
MT-TS1 7 0 5 3 10 0 0 0 0 0 0 25
MT-TS2 1 2 7 2 13 0 0 0 0 0 0 25
OTOA 6 6 11 0 2 0 0 0 0 0 0 24
OTOGL 4 2 14 0 0 0 0 0 0 0 3 23
EDNRB 6 6 9 1 0 0 0 0 0 0 1 22
PEX6 14 2 6 0 0 0 0 0 0 0 0 22
LARS2 11 5 4 1 0 0 0 0 0 0 0 21
MT-TI 2 3 5 2 10 0 0 0 0 0 0 21
COL4A3 6 2 10 0 2 0 0 0 0 0 0 20
ERCC6, ERCC6-PGBD3, PGBD3 2 1 13 3 1 0 0 0 0 0 0 20
GJB6 5 0 9 3 3 0 0 0 0 0 0 20
MT-TL2 2 1 6 2 9 0 0 0 0 0 0 20
MT-TY 2 0 9 5 4 0 0 0 0 0 0 20
MT-TA 1 0 6 4 8 0 0 0 0 0 0 19
MT-TP 1 1 9 2 6 0 0 0 0 0 0 19
NDP 17 2 0 0 0 0 0 0 0 0 0 19
PTPRQ 5 3 10 0 2 0 0 0 0 0 2 19
GIPC3 7 3 8 1 0 0 0 0 0 0 0 18
ILDR1 9 6 6 0 0 0 0 0 0 0 0 18
MT-TE 4 2 2 2 9 0 0 0 0 0 0 18
MT-TR 0 3 3 4 8 0 0 0 0 0 0 18
PLOD3 3 2 3 2 8 0 0 0 0 0 0 18
SMPX 6 3 8 0 1 0 0 0 0 0 0 18
CACNA1D 2 4 7 3 3 0 0 0 0 0 0 17
CLCC1, GPSM2 0 0 13 1 3 0 0 0 0 0 0 17
COCH 0 0 8 6 3 0 0 0 0 0 0 17
TNC 2 0 13 2 0 0 0 0 0 0 0 17
​intergenic 6 4 5 0 1 0 0 0 0 0 0 16
A2ML1 0 2 14 0 0 0 0 0 0 0 0 16
ATP1A3 7 6 3 0 0 0 0 0 0 0 0 16
EDN3 6 3 5 2 0 0 0 0 0 0 0 16
PEX1 6 1 9 0 0 0 0 0 0 0 0 16
MT-TN 1 0 5 2 7 0 0 0 0 0 0 15
TELO2 7 2 8 0 0 0 0 0 0 0 0 15
TPRN 6 2 5 0 3 0 0 0 0 0 0 15
TXNL4A 14 0 1 0 0 0 0 0 0 0 0 15
ANAPC15, LRTOMT 0 0 13 1 0 0 0 0 0 0 0 14
CEACAM16 5 1 7 0 1 0 0 0 0 0 0 14
COQ6, ENTPD5 11 1 2 0 0 0 0 0 0 0 0 14
DIAPH3 2 1 7 2 2 0 0 0 0 0 0 14
HARS2 4 10 1 0 0 0 0 0 0 0 0 14
KCNQ1, KCNQ1OT1 1 0 5 4 4 0 0 0 0 0 0 14
LRTOMT, TOMT 5 0 8 1 0 0 0 0 0 0 0 14
TYR 9 4 2 0 0 0 0 0 0 0 0 14
KARS1 5 2 5 2 1 0 0 0 0 0 0 13
MET 1 0 12 0 0 0 0 0 0 0 0 13
MT-TM 0 1 5 1 6 0 0 0 0 0 0 13
TIMM8A 11 1 0 0 1 0 0 0 0 0 0 13
CDC14A 9 3 2 0 0 0 0 0 0 0 0 12
COL9A1 4 0 8 0 0 0 0 0 0 0 0 12
ESPN 5 2 5 0 1 0 0 0 0 0 0 12
IARS2 6 0 5 1 0 0 0 0 0 0 0 12
MYO1A 0 0 6 6 0 0 0 0 0 0 0 11
PNPT1 6 1 3 0 0 0 0 0 0 0 1 11
UBR1 6 1 3 1 0 0 0 0 0 0 0 11
CDH23, LOC111982869 2 3 5 1 1 0 0 0 0 0 0 10
COL9A2 1 2 5 1 0 0 0 0 0 0 1 10
ERCC2, KLC3 0 0 7 2 1 0 0 0 0 0 0 10
FGF3 9 1 0 0 0 0 0 0 0 0 0 10
LRRC51, LRTOMT 0 0 10 0 2 0 0 0 0 0 0 10
MAP3K7 5 2 3 0 0 0 0 0 0 0 0 10
NOG 9 1 0 0 0 0 0 0 0 0 0 10
PDE6D 2 2 2 4 1 0 0 0 0 0 0 10
PMP22 7 0 2 0 0 0 0 0 0 0 1 10
ATP6V0A4, TMEM213 0 0 6 0 3 0 0 0 0 0 0 9
COG1, FAM104A 0 0 8 1 0 0 0 0 0 0 0 9
ERCC8, NDUFAF2 2 0 4 0 3 0 0 0 0 0 0 9
GATAD1, PEX1 3 2 4 1 0 0 0 0 0 0 0 9
GDF5, LOC109461476 0 0 4 0 5 0 0 0 0 0 0 9
LRTOMT, NUMA1 0 0 8 1 0 0 0 0 0 0 0 9
POLR1A 3 0 5 1 0 0 0 0 0 0 0 9
POLR1D 7 0 2 0 0 0 0 0 0 0 0 9
BCAP31 5 0 2 0 0 0 0 0 0 0 1 8
FDXR 4 4 1 0 0 0 0 0 0 0 0 8
GFER 5 3 1 0 0 0 0 0 0 0 2 8
GJB3 5 0 3 0 0 0 0 0 0 0 0 8
HGF 3 0 2 1 2 0 0 0 0 0 0 8
LOC105378311, PCDH15 2 3 3 0 1 0 0 0 0 0 0 8
MT-ND5 6 1 1 0 0 0 0 0 0 0 0 8
PNPLA8 2 3 3 0 0 0 0 0 0 0 0 8
SLC26A5 2 0 3 2 1 0 0 0 0 0 1 8
TRAPPC12 3 2 4 0 0 0 0 0 0 0 0 8
CIB2 6 3 1 0 0 0 0 0 0 0 0 7
CLCNKA, LOC106501712 3 1 2 0 1 0 0 0 0 0 0 7
CLPP 4 3 0 0 0 0 0 0 0 0 0 7
EPS8 3 1 2 0 0 0 0 0 0 0 1 7
MT-ND1 6 1 0 0 0 0 0 0 0 0 0 7
MT-RNR1 6 0 2 0 0 0 0 1 0 0 0 7
OTOP2, USH1G 1 1 5 0 0 0 0 0 0 0 0 7
SLITRK6 3 0 4 0 0 0 0 0 0 0 0 7
TJP2 3 1 3 0 0 0 0 0 0 0 0 7
TWNK 5 1 1 0 0 0 0 0 0 0 0 7
CCDC140, LOC107980445, PAX3 0 0 4 0 2 0 0 0 0 0 0 6
CLIC5 2 1 2 1 0 0 0 0 0 0 0 6
NLRP3 2 0 2 1 1 0 0 0 0 0 0 6
SLC12A2 6 0 0 0 0 0 4 0 0 0 0 6
TSPEAR 1 0 4 0 0 0 0 0 0 0 1 6
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 5 0 0 0 0 0 0 0 0 0 0 5
AP1B1 5 0 0 0 0 0 0 0 0 0 0 5
ARSG 5 0 0 0 0 0 0 0 0 0 0 5
CLDN9 1 1 3 0 0 0 0 0 0 0 0 5
DMXL2 2 0 2 1 0 0 0 0 0 0 0 5
FGF3, LOC109115964 4 0 1 0 0 0 0 0 0 0 0 5
HOXA1, HOXA2 0 0 0 4 1 0 0 0 0 0 0 5
LRTOMT 0 0 5 0 0 0 0 0 0 0 0 5
MARS2 3 0 2 0 0 0 0 0 0 0 0 5
MCM2 1 0 4 0 0 0 0 0 0 0 0 5
MPZL2 4 2 0 0 0 0 0 0 0 0 0 5
MT-CO1, MT-TS1 5 0 0 0 0 0 0 0 0 0 0 5
NADSYN1 4 1 0 0 0 0 0 0 0 0 0 5
NARS2 1 3 2 0 0 0 0 0 0 0 0 5
PTRH2 4 2 0 0 0 0 0 0 0 0 0 5
SERPINB6 1 0 4 0 0 0 0 0 0 0 0 5
TMEM132E 3 0 2 0 0 0 0 0 0 0 0 5
ACTB 1 2 1 0 0 0 0 0 0 0 0 4
AP1S1 2 2 0 0 0 0 0 0 0 0 0 4
C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 2 0 2 0 0 0 0 0 0 0 0 4
CD151 3 0 1 0 0 0 0 0 0 0 0 4
COL4A5, COL4A6 3 1 0 0 0 0 0 0 0 0 0 4
COL9A3 0 1 3 0 0 0 0 0 0 0 0 4
CRYM 2 0 2 0 0 0 0 0 0 0 0 4
DCDC2, KAAG1 0 0 1 2 1 0 0 0 0 0 0 4
EPS8L2 2 0 2 0 0 0 0 0 0 0 0 4
ERCC1 2 0 2 0 0 0 0 0 0 0 0 4
GREB1L 4 0 1 0 0 0 0 0 0 0 0 4
HAAO 2 1 1 0 0 0 0 0 0 0 0 4
HOMER2 3 0 1 0 0 0 0 0 0 0 0 4
LOC105371566, MYO15A 0 0 4 0 0 0 0 0 0 0 0 4
MSRB3 3 1 0 0 0 0 0 0 0 0 1 4
MT-ND4 1 0 3 0 0 0 0 0 0 0 0 4
OSBPL2 3 0 1 0 0 0 0 0 0 0 0 4
P2RX2 2 0 2 0 0 0 0 0 0 0 0 4
PLS1 4 1 2 0 0 0 0 0 0 0 0 4
PTPN11, RPL6 0 0 2 0 2 0 0 0 0 0 0 4
SIX5 1 0 3 0 1 0 0 0 0 0 0 4
WBP2 3 0 1 0 0 0 0 0 0 0 0 4
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A 3 0 0 0 0 0 0 0 0 0 0 3
BDP1 1 0 2 0 0 0 0 0 0 0 0 3
CABP2 2 1 1 0 0 0 0 0 0 0 0 3
CATSPER2, CKMT1B, STRC 3 0 0 0 0 0 0 0 0 0 0 3
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 3 0 0 0 0 0 0 0 0 3
DNMT1, LOC107080555 0 0 1 2 0 0 0 0 0 0 0 3
EXOSC2 2 0 1 0 0 0 0 0 0 0 0 3
GRHL2 2 0 1 0 0 0 0 0 0 0 0 3
GSC 3 0 0 0 0 0 0 0 0 0 0 3
HOXA1, LOC113748384 0 0 3 0 0 0 0 0 0 0 0 3
KYNU 3 0 0 0 0 0 0 0 0 0 0 3
LINC00630, RAB40AL 0 0 2 0 1 0 0 0 0 0 0 3
LMX1A 3 0 0 0 0 0 0 0 0 0 0 3
LOC107988030, MITF 0 0 1 1 2 0 0 0 0 0 0 3
MAP3K20 2 0 1 0 0 0 0 0 0 0 0 3
MIR96 2 0 1 0 0 0 0 0 0 0 0 3
MT-CYB 0 1 2 0 0 0 0 0 0 0 0 3
PIK3C2A 3 1 0 0 0 0 0 0 0 0 0 3
POLR1B 3 0 0 0 0 0 0 0 0 0 0 3
RNASEH1 3 1 0 0 0 0 0 0 0 0 0 3
RNF13 2 0 1 0 0 0 0 0 0 0 0 3
SLC9A1 2 0 1 0 0 0 0 0 0 0 0 3
SPNS2 2 0 1 0 0 0 0 0 0 0 0 3
ADCY1 1 0 1 0 0 0 0 0 0 0 0 2
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516 2 0 0 0 0 0 0 0 0 0 0 2
ADNP2, CTDP1, HSBP1L1, KCNG2, RBFA, SLC66A2, TXNL4A 2 0 0 0 0 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 0 0 0 0 2
ANKRD36 0 2 0 0 0 0 0 0 0 0 0 2
ARMCX5-GPRASP2, GPRASP2 1 0 1 0 0 0 0 0 0 0 0 2
ATP2B2 1 0 1 0 0 0 0 0 0 0 0 2
ATP6V1B2 1 0 1 0 0 0 0 0 0 0 0 2
CCDC50 1 0 1 0 0 0 0 0 0 0 0 2
CDH23, VSIR 0 0 0 0 2 0 0 0 0 0 0 2
CEP78 2 0 0 0 0 0 0 0 0 0 0 2
CISD2, SLC9B1 2 0 0 0 0 0 0 0 0 0 0 2
CLCNKA 1 0 2 0 0 0 0 0 0 0 0 2
COL4A6 1 0 0 1 0 0 0 0 0 0 0 2
COQ6 1 0 1 0 0 0 0 0 0 0 0 2
CRYL1, GJB6 2 0 0 0 0 0 0 0 0 0 0 2
DACT1 1 0 1 0 0 0 0 0 0 0 0 2
DNAJC3 2 0 0 0 0 0 0 0 0 0 0 2
EDNRA 2 0 0 0 0 0 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 0 0 0 0 2
ERAL1 1 0 1 0 0 0 0 0 0 0 0 2
ESRP1 2 0 0 0 0 0 0 0 0 0 0 2
GDF6 2 0 1 0 0 0 0 0 0 0 0 2
GGPS1 0 0 2 0 0 0 0 0 0 0 0 2
KITLG 2 0 0 0 0 0 0 0 0 0 0 2
LOC107075317, SIX5 2 0 0 0 0 0 0 0 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 0 0 0 0 0 2
MANBA 0 1 1 0 0 0 0 0 0 0 0 2
MAP2K2 0 0 2 0 0 0 0 0 0 0 0 2
MKRN2, RAF1 0 0 2 0 0 0 0 0 0 0 0 2
MT-ND6 1 1 0 0 0 0 0 0 0 0 0 2
PCNA 1 1 1 0 0 0 0 0 0 0 0 2
POGZ 1 1 0 0 0 0 0 0 0 0 0 2
PROM1 1 0 1 0 0 0 0 0 0 0 0 2
PTPRS 0 0 2 0 0 0 0 0 0 0 0 2
ROR1 1 0 1 0 0 0 0 0 0 0 0 2
S1PR2 2 0 0 0 0 0 0 0 0 0 0 2
SLC44A4 1 0 1 0 0 0 0 0 0 0 0 2
TRRAP 1 0 1 0 0 0 0 0 0 0 0 2
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 0 0 0 0 0 0 0 0 1
ABCC1 1 0 0 0 0 0 0 0 0 0 0 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 0 0 0 0 0 1
ACAD9, GATA2, LINC01565, RAB7A, RPN1 1 0 0 0 0 0 0 0 0 0 0 1
ACBD7, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, C1QL3, CACNB2, CALML3, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CUBN, DCLRE1C, DHTKD1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GDI2, HACD1, HSPA14, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, MCM10, MEIG1, MINDY3, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PHYH, PRKCQ, PROSER2, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, ST8SIA6, STAM, SUV39H2, TAF3, TASOR2, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM 1 0 0 0 0 0 0 0 0 0 0 1
ADAMTS14 0 0 1 0 0 0 0 0 0 0 0 1
AFG3L2 1 0 0 0 0 0 0 0 0 0 0 1
AIFM3, ARVCF, BCR, C22orf39, CCDC116, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, IGLC1, IGLL5, KLHL22, LZTR1, MAPK1, MED15, MICAL3, MIR130B, MRPL40, P2RX6, PEX26, PI4KA, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, USP18, USP41, VPREB1, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF74 1 0 0 0 0 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SNAP29, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 0 0 0 0 1
AIPL1 0 0 1 0 0 0 0 0 0 0 0 1
ALMS1, CCT7, EGR4, EMX1, FBXO41, NOTO, PRADC1, RAB11FIP5, SFXN5, SMYD5, SPR 0 0 1 0 0 0 0 0 0 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 1 0 0 0 0 0 0 0 0 1
ANAPC15, LRTOMT, MYH9, TOMT 0 1 0 0 0 0 0 0 0 0 0 1
ANKFN1, NOG 1 0 0 0 0 0 0 0 0 0 0 1
ANKHD1, ANKHD1-EIF4EBP3, APBB3, BRD8, CD14, CDC23, CDC25C, CTNNA1, CXXC5, CYSTM1, DIAPH1, DNAJC18, DND1, ECSCR, EGR1, EIF4EBP3, ETF1, FAM13B, FAM53C, GFRA3, HARS1, HARS2, HBEGF, HNRNPA0, HSPA9, IGIP, IK, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NDUFA2, NME5, NRG2, PAIP2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PFDN1, PKD2L2, PROB1, PSD2, PURA, REEP2, SIL1, SLC23A1, SLC25A2, SLC35A4, SLC4A9, SNHG4, SPATA24, SPOCK1, SRA1, STING1, TAF7, TMCO6, UBE2D2, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, WNT8A, ZMAT2 0 0 1 0 0 0 0 0 0 0 0 1
ANKRD54, BAIAP2L2, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR659, PICK1, PLA2G6, POLR2F, SLC16A8, SOX10, TRIOBP 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 0 0 0 0 0 0 0 1
AP1B1, ASCC2, C22orf31, CABP7, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, MTMR3, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, UQCR10, XBP1, ZMAT5, ZNRF3 1 0 0 0 0 0 0 0 0 0 0 1
ARSG, PRKAR1A 1 0 0 0 0 0 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 0 0 0 0 0 1
ARVCF, COMT, GNB1L, GP1BB, LOC110120888, LOC112694764, LOC112694766, MIR4761, RTL10, SEPT5-GP1BB, SEPTIN5, TBX1, TXNRD2 1 0 0 0 0 0 0 0 0 0 0 1
ASPA, SPATA22 0 0 1 0 0 0 0 0 0 0 0 1
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 0 0 0 0 0 1
ATP1A2, IGSF8, KCNJ10, KCNJ9 0 0 1 0 0 0 0 0 0 0 0 1
B3GNT4, DIABLO 0 0 1 0 0 0 0 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 0 0 0 0 0 1
BBS12, FGF2, NUDT6, SPATA5 1 0 0 0 0 0 0 0 0 0 0 1
BCAP31, SLC6A8 1 0 0 0 0 0 0 0 0 0 0 1
BCLAF1 0 0 1 0 0 0 0 0 0 0 0 1
BMP2 0 0 1 0 0 0 0 0 0 0 0 1
BORCS6 0 0 1 0 0 0 0 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 0 0 0 0 0 0 0 1
BRCA1 0 0 1 0 0 0 0 0 0 0 0 1
BRCA2 0 1 0 0 0 0 0 0 0 0 0 1
BRF1 1 0 0 0 0 0 0 0 0 0 0 1
C22orf39, CDC45, CLDN5, CLTCL1, GP1BB, HIRA, MRPL40, SEPTIN5, SLC25A1, TBX1, UFD1 1 0 0 0 0 0 0 0 0 0 0 1
C5orf60, CANX, CBY3, LTC4S, MAML1, MGAT4B, MRNIP, RASGEF1C, RNF130, SQSTM1, TBC1D9B 0 0 1 0 0 0 0 0 0 0 0 1
CARMIL1 0 0 1 0 0 0 0 0 0 0 0 1
CATSPER2 1 0 0 0 0 0 0 0 0 0 0 1
CATSPER2, CKMT1A, CKMT1B, STRC 1 0 0 0 0 0 0 0 0 0 0 1
CATSPER2, STRC 1 0 0 0 0 0 0 0 0 0 0 1
CCDC140, PAX3 0 0 1 0 0 0 0 0 0 0 0 1
CCNF, TBC1D24 0 0 1 1 0 0 0 0 0 0 0 1
CD164 1 0 0 0 0 0 0 0 0 0 0 1
CDK20 1 0 0 0 0 0 0 0 0 0 0 1
CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 0 0 0 0 1
CELSR2 0 1 0 0 0 0 0 0 0 0 0 1
CEP250 1 0 0 0 0 0 0 0 0 0 0 1
CHN1 0 1 0 0 0 0 0 0 0 0 0 1
CISD2 1 0 0 0 0 0 0 0 0 0 0 1
CLCNKB, LOC106501713 0 0 1 0 0 0 0 0 0 0 0 1
CLDN14, SGO2 1 0 0 0 0 0 0 0 0 0 0 1
CLRN2 1 0 0 0 0 0 0 0 0 0 0 1
CNKSR1 0 0 0 0 1 0 0 0 0 0 0 1
COQ6, FAM161B 0 0 0 0 1 0 0 0 0 0 0 1
COX18 0 0 1 0 0 0 0 0 0 0 0 1
CRX 0 0 1 0 0 0 0 0 0 0 0 1
CRYGC, LOC100507443 0 0 0 0 1 0 0 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, MIR4499, XPO4 0 0 1 0 0 0 0 0 0 0 0 1
CRYL1, GJB2, MIR4499 1 0 0 0 0 0 0 0 0 0 0 1
DBH 0 0 1 0 0 0 0 0 0 0 0 1
DELEC1, PAPPA, TNC, TNFSF8 0 0 1 0 0 0 0 0 0 0 0 1
DHX30 1 0 0 0 0 0 0 0 0 0 0 1
DIABLO 1 0 0 0 0 0 0 0 0 0 0 1
DLX5 1 0 0 0 0 0 0 0 0 0 0 1
DM1, LOC107075317, SIX5 1 0 0 0 0 0 0 0 0 0 0 1
DMBX1 0 1 0 0 0 0 0 0 0 0 0 1
DNAJC6 1 0 0 0 0 0 0 0 0 0 0 1
DND1, HARS1, HARS2 0 0 1 0 0 0 0 0 0 0 0 1
DNMT1, SHFL 0 0 1 0 0 0 0 0 0 0 0 1
DSPP 0 0 1 0 0 0 0 0 0 0 0 1
DTNA 0 1 0 0 0 0 0 0 0 0 0 1
DYNLRB2, LINC01227, LINC01228, LINC01229, LOC110120569, LOC110120570, LOC111365156, LOC111365213, LOC111429607, LOC112486209, MAF, MAFTRR, WWOX 1 0 0 0 0 0 0 0 0 0 0 1
EDNRB, LOC107882129 0 1 0 0 0 0 0 0 0 0 0 1
ELMOD3 1 0 0 0 0 0 0 0 0 0 0 1
EP300 0 1 0 0 0 0 0 0 0 0 0 1
EPHA4, PAX3 1 0 0 0 0 0 0 0 0 0 0 1
ERCC5 1 0 0 0 0 0 0 0 0 0 0 1
FAM136A 1 0 0 0 0 0 0 0 0 0 0 1
FZD4, PRSS23 1 0 0 0 0 0 0 0 0 0 0 1
GAB1 1 0 0 0 0 0 0 0 0 0 0 1
GABRA1 0 0 1 0 0 0 0 0 0 0 0 1
GJB2, GJB6 1 0 0 0 0 0 0 0 0 0 0 1
GJB4 0 0 1 0 0 0 0 0 0 0 0 1
GNB5 0 0 1 0 0 0 0 0 0 0 0 1
GRAP 1 1 0 0 0 0 0 0 0 0 0 1
GRXCR2 1 0 0 0 0 0 0 0 0 0 0 1
GUCA1A, LOC118142757 1 0 0 0 0 0 0 0 0 0 0 1
HARS2, LOC119407423 0 1 0 0 0 0 0 0 0 0 0 1
HERC2 0 0 0 0 0 0 0 0 0 0 1 1
HIVEP1 1 0 0 0 0 0 0 0 0 0 0 1
IFT140 0 1 0 0 0 0 0 0 0 0 0 1
IGSF6, METTL9, OTOA 1 0 0 0 0 0 0 0 0 0 0 1
INTU 0 1 0 0 0 0 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 0 0 0 1
KRTAP10-1, TSPEAR 0 0 1 0 0 0 0 0 0 0 0 1
KRTAP12-4, TSPEAR 1 0 0 0 0 0 0 0 0 0 0 1
LARS1 0 0 1 0 0 0 0 0 0 0 0 1
LIPT1, MITD1 0 1 0 0 0 0 0 0 0 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 0 0 0 0 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 0 0 0 0 0 1
LOXL3 1 0 0 0 0 0 0 0 0 0 0 1
LSM10 0 0 1 0 0 0 0 0 0 0 0 1
MAP3K1 0 0 1 0 0 0 0 0 0 0 0 1
MECP2 0 1 0 0 0 0 0 0 0 0 0 1
MED23 0 0 1 0 0 0 0 0 0 0 0 1
MIR9718, SIX1 0 0 1 0 0 0 0 0 0 0 0 1
MPC1 0 0 1 0 0 0 0 0 0 0 0 1
MSR1 0 0 0 1 0 0 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 0 0 0 0 0 1
MT-CO3 0 0 1 0 0 0 0 0 0 0 0 1
MT-RNR1, MT-TS1 1 0 0 0 0 0 0 1 0 0 0 1
MYO18B 0 0 1 0 0 0 0 0 0 0 0 1
NDUFS1 0 1 0 0 0 0 0 0 0 0 0 1
NSDHL 0 0 1 0 0 0 0 0 0 0 0 1
ODAD1 0 0 1 0 0 0 0 0 0 0 0 1
PCDH15, USH1G 1 0 0 0 0 0 0 0 0 0 0 1
PDE1C 1 1 0 0 0 0 0 0 0 0 0 1
PJVK, PRKRA 0 0 0 1 0 0 0 0 0 0 0 1
PLSCR4 0 0 1 0 0 0 0 0 0 0 0 1
POMT1 0 0 1 0 0 0 0 0 0 0 0 1
PPIP5K2 1 0 0 0 0 0 0 0 0 0 0 1
PRORP 0 1 0 0 0 0 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 0 0 0 0 0 1
PUF60 0 1 0 0 0 0 0 0 0 0 0 1
RAI1 1 0 0 0 0 0 0 0 0 0 0 1
RBFOX1 0 1 0 0 0 0 0 0 0 0 0 1
RERE 0 1 0 0 0 0 0 0 0 0 0 1
REST 1 0 0 0 0 0 0 0 0 0 0 1
RET 1 0 0 0 0 0 0 0 0 0 0 1
RIPOR2 1 0 0 0 0 0 0 0 0 0 0 1
RRM2B 0 1 0 0 0 0 0 0 0 0 0 1
SCD5 1 0 0 0 0 0 0 0 0 0 0 1
SCP2 0 0 1 0 0 0 0 0 0 0 0 1
SEMA3F 0 0 1 0 0 0 0 0 0 0 0 1
SIX1, SIX4, SIX6 0 0 1 0 0 0 0 0 0 0 0 1
SLC39A14 1 0 0 0 0 0 0 0 0 0 0 1
SLC52A2 0 1 0 0 0 0 0 0 0 0 0 1
SNAI2 1 0 0 0 0 0 0 0 0 0 0 1
SOX10 1 0 0 0 0 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 0 0 0 1
SYNE4 1 0 0 0 0 0 0 0 0 0 0 1
TBL1Y 1 0 0 0 0 0 0 0 0 0 0 1
TCF19 0 0 1 0 0 0 0 0 0 0 0 1
TENM1 0 0 1 0 0 0 0 0 0 0 0 1
TFAM 0 0 1 0 0 0 0 0 0 0 0 1
TFAP2A 0 1 0 0 0 0 0 0 0 0 0 1
TLCD3A 0 0 1 0 0 0 0 0 0 0 0 1
TMCO1 1 0 0 0 0 0 0 0 0 0 0 1
TMEM17 0 0 1 0 0 0 0 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 0 0 0 0 0 1
TOP1MT 0 0 1 0 0 0 0 0 0 0 0 1
TOP3A 0 0 1 0 0 0 0 0 0 0 0 1
TRIO 0 1 0 0 0 0 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 0 0 0 0 0 1
USP31 0 0 1 0 0 0 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 0 0 0 0 0 1
WDR36 0 0 0 1 0 0 0 0 0 0 0 1
WDR81 0 0 1 0 0 0 0 0 0 0 0 1
ZXDA 0 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 303
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response risk factor other not provided total
Illumina Clinical Services Laboratory,Illumina 27 18 6886 1235 1876 0 0 0 0 0 0 9645
Invitae 730 115 3508 1924 702 0 0 0 0 0 0 6978
Counsyl 174 806 1273 282 8 0 0 0 0 0 0 2543
Natera, Inc. 140 26 1152 268 415 0 0 0 0 0 0 2001
OMIM 1311 0 13 0 0 0 0 0 1 0 0 1324
Research and Development, ARUP Laboratories 739 3 13 4 19 0 0 0 0 0 0 778
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 45 30 144 90 246 0 0 0 0 0 0 555
Baylor Genetics 139 40 313 0 0 0 0 0 0 0 0 492
Fulgent Genetics,Fulgent Genetics 135 29 291 2 0 0 0 0 0 0 0 457
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 32 94 281 18 5 0 0 0 0 0 0 430
GeneReviews 360 9 4 0 34 0 7 0 0 0 0 413
Mendelics 86 47 69 35 110 0 0 0 0 0 0 347
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 96 103 87 2 0 0 0 0 0 0 0 286
University of Washington Center for Mendelian Genomics, University of Washington 0 186 23 0 0 0 0 0 0 0 0 209
Centre for Mendelian Genomics,University Medical Centre Ljubljana 47 34 108 2 6 0 0 0 0 0 0 197
Myriad Women's Health, Inc. 31 154 0 0 0 0 0 0 0 0 0 185
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 111 49 4 11 0 0 0 0 0 0 0 173
ClinGen Hearing Loss Variant Curation Expert Panel 26 38 46 21 22 0 0 0 0 0 0 153
Genetic Services Laboratory, University of Chicago 88 10 32 0 0 0 0 0 0 0 0 130
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 7 21 13 79 0 0 0 0 0 0 125
Integrated Genetics/Laboratory Corporation of America 83 29 0 0 3 0 0 0 0 0 0 115
Center for Human Genetics, Inc,Center for Human Genetics, Inc 30 52 17 5 1 0 0 0 0 0 0 105
Genomic Research Center, Shahid Beheshti University of Medical Sciences 15 15 66 4 1 0 0 0 0 0 3 102
Institute of Human Genetics, Klinikum rechts der Isar 74 21 0 0 0 0 0 0 0 0 0 95
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 50 7 20 3 11 0 0 0 0 0 0 91
Division of Human Genetics,Children's Hospital of Philadelphia 15 11 56 0 0 0 0 0 0 0 1 83
National Institute on Deafness and Communication Disorders,National Institutes of Health 58 6 19 0 0 0 0 0 0 0 0 83
Laboratory of Prof. Karen Avraham,Tel Aviv University 76 7 0 0 0 0 0 0 0 0 0 83
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 40 22 15 0 0 0 0 0 0 0 0 77
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 49 26 0 0 0 0 0 0 0 0 1 76
Institute of Human Genetics, University of Leipzig Medical Center 17