ClinVar Miner

Variants studied for inborn mitochondrial metabolism disorder

Included ClinVar conditions (407):
Minimum submission review status: Collection method:
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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 drug response risk factor not provided total
3460 2914 13565 9397 2836 1 2 2 354 30437

Gene and significance breakdown #

Total genes and gene combinations: 560
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects drug response risk factor not provided total
SDHA 145 68 1264 815 56 0 0 0 9 2285
POLG 170 132 818 771 57 0 0 0 11 1803
HSD17B4 85 78 191 593 45 0 0 0 5 968
ELAC2 37 19 388 388 34 0 0 0 0 858
ETFDH 155 173 231 362 21 0 0 0 0 847
SPG7 131 70 295 219 38 0 0 0 10 672
POLG, POLGARF 58 65 279 245 18 0 0 0 4 639
MTO1 47 19 318 243 10 0 0 0 0 627
CARS2 5 5 308 263 27 0 0 0 2 597
SURF1 104 35 181 285 13 0 0 0 1 588
DLD 57 79 129 298 38 0 0 0 0 552
HADHB 60 65 130 227 22 0 0 0 0 470
ETFA 40 55 123 262 20 0 0 0 0 467
LRPPRC 11 173 213 43 46 0 0 0 2 466
PDHA1 77 45 78 204 67 0 0 0 0 444
GAREM2, HADHA 63 22 87 260 18 0 0 0 0 433
OPA3 8 4 210 131 79 0 0 0 4 432
FBXL4 36 52 335 2 7 0 0 0 0 416
AMPD1 4 5 266 137 25 0 0 0 2 414
PRICKLE2 2 0 238 146 21 0 0 0 0 406
HADHA 52 31 70 245 8 0 0 0 0 395
TAFAZZIN 45 48 142 141 10 0 0 0 0 359
FH 40 41 224 33 8 0 0 0 4 326
LIAS 20 8 151 124 11 0 0 0 4 308
AIFM1, RAB33A 9 7 128 142 27 0 0 0 1 305
MT-ND5 15 8 124 49 105 0 0 0 12 287
PDHB 24 19 58 182 21 0 0 0 0 281
TMEM70 19 6 155 86 23 0 0 0 0 280
FARS2 41 21 118 99 11 0 0 0 0 272
ETFB 20 27 83 147 9 0 0 0 0 271
AGK 33 14 119 96 23 0 0 0 0 269
SUCLA2 18 11 133 102 17 0 0 0 2 266
MT-CYB 7 6 131 36 94 0 0 0 3 265
SERAC1 34 16 113 92 31 0 0 0 2 262
SUCLG1 21 9 122 107 14 0 0 0 0 250
MT-ATP6 14 14 93 47 93 0 0 0 11 244
RARS2 29 127 66 20 21 0 0 0 0 235
GFM1 29 93 76 26 29 0 0 0 0 234
COQ4 27 11 89 100 8 0 0 0 5 225
OPA1 42 32 81 16 40 0 0 0 10 209
IBA57 26 12 86 69 9 0 0 0 0 198
FASTKD2 8 7 145 25 13 0 0 0 0 193
TRMU 14 76 69 25 22 0 0 0 1 189
CHCHD10 4 1 102 69 10 0 0 0 4 188
COQ8A 32 37 79 11 25 0 0 0 19 178
DLAT 11 6 62 82 15 0 0 0 0 170
FARS2, LOC126859565 15 12 85 61 9 0 0 0 2 168
NDUFA10 4 2 133 22 30 0 0 0 0 167
MT-CO1 2 5 90 20 48 0 0 0 1 163
MT-ND2 5 3 66 42 52 0 0 0 3 163
MT-ND1 14 9 61 23 52 0 0 0 13 147
MT-CO3 7 1 70 29 40 0 0 0 5 145
MTRFR 19 3 76 40 8 0 0 0 1 139
OGDH 4 1 43 61 28 0 0 0 0 137
TWNK 33 23 73 12 29 0 0 0 13 135
NDUFS1 13 15 83 18 18 0 0 0 1 134
RRM2B 16 15 70 18 36 0 0 0 1 134
TK2 23 12 80 6 15 0 0 0 5 133
NUBPL 10 5 97 5 12 0 0 0 1 123
TYMP 43 32 40 4 8 0 0 0 0 117
MT-ND4 4 2 54 20 39 0 0 0 5 116
AMPD3 1 1 89 8 14 1 0 0 0 112
COX10 5 6 70 23 25 0 0 0 0 108
DARS2 26 16 51 13 13 0 0 0 6 108
PDHX 12 10 45 8 26 0 0 0 2 100
NDUFAF5 8 49 38 10 7 0 0 0 1 99
TTC19 12 5 71 7 6 0 0 0 0 99
MT-CO2 6 2 49 18 25 0 0 0 0 96
TSFM 5 39 45 10 4 0 0 0 0 96
MT-ND6 8 8 39 16 33 0 0 1 11 95
SLC25A4 11 2 51 6 26 0 0 0 0 95
NFU1 8 6 49 29 9 0 0 0 0 93
AFG3L2 25 10 34 6 16 0 0 0 12 90
MPV17 25 24 39 7 4 0 0 0 6 89
PUS1 5 16 47 19 13 0 0 0 0 89
COX15 6 5 69 4 5 0 0 0 0 86
AARS2, POLR1C 5 3 62 1 15 0 0 0 0 85
AARS2 9 6 41 10 23 0 0 0 2 84
FANCI, POLG 3 0 39 32 6 0 0 0 0 79
EARS2 18 6 38 6 11 0 0 0 3 77
BCS1L 21 20 30 6 5 0 0 0 0 74
FOXRED1 10 9 55 2 2 0 0 0 0 74
SARS2 3 2 48 12 8 0 0 0 1 73
NDUFS2 5 3 55 10 5 0 0 0 0 72
CARS2, LOC130010127 1 0 45 24 2 0 0 0 0 71
LOC130067862, SCO2, TYMP 30 11 24 7 6 0 0 0 0 69
NDUFV1 8 15 48 2 2 0 0 0 1 67
PDSS1 7 2 39 10 10 0 0 0 3 67
LOC129936949, PDHB 0 2 12 52 1 0 0 0 0 65
NCAPH2, SCO2 16 16 34 3 0 0 0 0 0 63
NDUFAF4 1 0 46 8 9 0 0 0 0 62
DGUOK 20 9 27 3 3 0 0 0 0 58
MT-ATP8 0 0 22 7 28 0 0 0 0 57
SCO1 4 3 40 9 6 0 0 0 1 57
DNM1L 18 19 15 4 4 0 0 0 0 56
LOC130059818, SPG7 9 2 33 13 1 0 0 0 0 56
TUFM 3 1 41 4 7 0 0 0 0 55
LARS2 19 14 17 2 7 0 0 0 7 54
MT-TT 2 1 6 10 36 0 0 0 0 54
RMND1 17 6 23 7 4 0 0 0 1 54
NDUFS6 5 16 21 5 5 0 0 0 0 50
SDHD 6 6 35 1 3 0 0 0 0 49
VARS2 12 11 27 0 6 0 0 0 0 49
COQ9 5 4 24 9 7 0 0 0 1 47
EARS2, GGA2 0 0 25 7 15 0 0 0 0 47
LOC130002899, SURF1 3 7 11 28 2 0 0 0 0 47
YARS2 9 4 26 4 8 0 0 0 0 47
MILR1, POLG2 5 1 25 4 13 0 0 0 0 46
NDUFS4 12 19 12 1 4 0 0 0 1 45
NDUFAF1 4 0 33 4 6 0 0 0 0 44
NDUFS8 8 8 28 0 2 0 0 0 0 44
MT-ND3 4 2 19 8 12 0 0 0 5 43
POLRMT 11 5 27 2 0 0 0 0 0 43
COQ2 5 4 21 9 2 0 0 0 8 42
NARS2 18 6 16 1 2 0 0 0 2 42
PNPT1 14 12 12 1 6 0 0 0 1 42
UQCRQ 0 0 36 3 3 0 0 0 0 42
COX15, ENTPD7 0 0 31 4 4 0 0 0 0 39
ATPAF2 1 0 29 1 8 0 0 0 0 38
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 0 0 0 38
LOC130064709, OPA3 1 1 14 19 3 0 0 0 1 38
SLC25A3 3 0 27 2 6 0 0 0 0 38
TACO1 4 3 24 6 1 0 0 0 0 37
MIPEP 7 9 16 3 2 0 0 0 0 36
MSTO1 11 10 22 1 1 0 0 0 0 36
MT-TH 2 3 13 4 16 0 0 0 2 36
MT-TW 8 2 11 5 13 0 0 0 4 36
COQ6, ENTPD5 11 4 14 2 4 0 0 0 8 35
GTPBP3 9 9 13 1 5 0 0 0 1 35
NDUFAF3 3 3 30 0 0 0 0 0 0 35
TARS2 12 22 16 1 1 0 0 0 0 35
MT-TF 7 3 8 6 15 0 0 0 2 34
MT-TK 7 6 7 7 10 0 0 0 6 33
MT-TL1 12 12 11 4 6 0 0 0 6 33
NDUFS3 4 4 30 0 2 0 0 0 0 33
DLAT, PIH1D2 1 1 16 13 3 0 0 0 0 32
NDUFS7 3 6 22 1 3 0 0 0 0 32
COA8 6 6 11 8 2 0 0 0 0 31
MAP3K15, PDHA1 0 0 12 1 18 0 0 0 0 31
MRPS22 6 3 20 2 1 0 0 0 0 30
MT-TC 1 0 7 5 19 0 0 0 0 30
MT-TG 0 1 14 5 11 0 0 0 0 30
MT-TV 4 4 15 6 5 0 0 0 4 30
NDUFAF2 8 4 17 3 3 0 0 0 0 30
NDUFAF6 13 7 10 2 3 0 0 0 0 30
PDSS2 2 2 16 10 1 0 0 0 2 30
NDUFV2 2 3 20 2 3 0 0 0 0 29
LOC130065433, NDUFAF5 4 12 10 3 1 0 0 0 1 28
AIFM1, LOC130068679, RAB33A 0 0 13 10 5 0 0 0 0 27
COQ2, LOC112997540 0 7 20 1 2 0 0 0 1 27
HSD17B10 8 9 10 0 0 0 0 0 1 27
LIAS, LOC112939935 0 0 22 5 0 0 0 0 0 27
LOC126861242, NDUFV1 6 9 17 1 1 0 0 0 0 27
MT-TD 1 1 9 6 11 0 0 0 0 27
MT-TQ 1 1 6 4 17 0 0 0 1 27
MT-TS1 7 3 9 3 10 0 0 0 6 27
BOLA3 4 4 19 2 0 0 0 0 0 26
MT-ND4L 1 1 12 6 7 0 0 0 1 26
MT-TL2 6 4 10 2 9 0 0 0 1 26
MT-TS2 3 3 9 2 13 0 0 0 1 26
SLC25A12 7 4 11 0 3 0 0 0 1 26
DNA2 5 3 8 6 3 0 0 0 1 25
MT-ATP6, MT-ATP8 1 1 3 8 13 0 0 0 0 25
TRIT1 12 6 12 0 1 0 0 0 0 25
HARS2 4 11 8 2 1 0 0 0 3 24
MT-TI 6 5 9 2 10 0 0 0 0 24
LOC130009747, SUCLA2 0 0 10 10 4 0 0 0 0 23
MTFMT 11 5 7 0 1 0 0 0 1 23
NBAS 9 14 0 0 0 0 0 0 0 23
PNPLA8 5 5 10 1 2 0 0 0 0 23
DNM1L, YARS2 0 0 5 17 9 0 0 0 0 22
GFM2 6 2 12 1 0 0 0 0 3 22
MT-TA 4 1 8 4 8 0 0 0 0 22
NDUFA11 0 0 21 0 1 0 0 0 0 22
MT-TE 7 3 4 2 9 0 0 0 0 21
MT-TP 3 2 10 2 6 0 0 0 0 21
PMPCB 5 3 11 1 1 0 0 0 0 21
MT-TR 3 3 4 4 8 0 0 0 0 20
MT-TY 2 0 9 5 4 0 0 0 0 20
NDUFA2, TMCO6 4 0 14 0 2 0 0 0 0 20
NDUFA9 3 3 13 0 2 0 0 0 0 20
LOC130064387, SARS2 0 1 15 1 2 0 0 0 1 19
TIMMDC1 3 5 10 0 1 0 0 0 0 19
COX20 5 1 11 3 0 0 0 0 0 18
LOC130005549, PDHX 3 2 6 2 6 0 0 0 0 18
MT-TN 2 3 6 2 7 0 0 0 0 18
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 0 0 0 17
HSD17B4, LOC129994460 3 0 1 13 0 0 0 0 1 17
IARS2 8 1 7 2 1 0 0 0 0 17
MECR 8 2 6 0 3 0 0 0 2 17
SDHB 6 1 7 4 2 0 0 0 0 17
SFXN4 7 2 2 0 6 0 0 0 0 17
TMEM126A 1 0 8 6 3 0 0 0 0 17
TOP3A 3 2 3 2 7 0 0 0 0 17
LIPT1, MITD1 6 5 4 0 2 0 0 0 1 16
LOC112529895, SCO1 0 0 13 3 1 0 0 0 1 16
LOC129934004, NFU1 1 0 8 6 2 0 0 0 0 16
AFG3L2, TUBB6 0 0 11 0 5 0 0 0 0 15
MFF 7 3 5 2 0 0 0 0 0 15
MIR6766, POLG 0 0 0 14 1 0 0 0 0 15
MT-TM 1 2 5 1 6 0 0 0 0 15
CLPP 5 5 1 2 1 0 0 0 3 14
COQ7 9 2 5 0 2 0 0 0 1 14
COX6B1 2 1 7 4 1 0 0 0 0 14
LOC129993885, NDUFS4 1 2 10 1 2 0 0 0 0 14
LYRM7 7 3 5 0 0 0 0 0 0 14
ACAD9 5 7 1 0 0 0 0 0 0 13
COQ4, LOC130002704 3 0 4 4 2 0 0 0 1 13
COX15, CUTC 0 0 11 0 2 0 0 0 0 13
LOC112552175, NDUFA11 1 1 8 1 2 0 0 0 0 13
NDUFA12 9 2 4 0 0 0 0 0 0 13
PDZD9, UQCRC2 3 1 7 1 1 0 0 0 0 13
SDHAF1 1 0 10 1 1 0 0 0 0 13
LOC130058735, TUFM 0 0 10 1 1 0 0 0 0 12
PTCD3 6 2 4 0 0 0 0 0 0 12
SLC25A26 4 2 3 0 4 0 0 0 0 12
APIP, LOC130005547, PDHX 0 0 4 2 5 0 0 0 0 11
DNAJC9, MRPS16 1 0 11 0 0 0 0 0 0 11
GLRX5 8 0 3 0 0 0 0 0 0 11
LOC130067862, TYMP 6 2 4 1 0 0 0 0 0 11
MARS2 5 0 5 0 1 0 0 0 0 11
PRORP, PRORP-PSMA6 7 4 4 0 0 0 0 0 0 11
QRSL1 5 1 3 0 3 0 0 0 0 11
DGUOK, LOC129934096 2 1 6 1 1 0 0 0 1 10
FASTKD2, LOC129935479 0 0 7 2 1 0 0 0 0 10
FLAD1 9 0 0 1 0 0 0 0 0 10
GFER 6 2 3 0 1 0 0 0 2 10
ISCA2 3 2 6 0 0 0 0 0 3 10
LIG3 8 1 1 0 0 0 0 0 0 10
LOC126859646, VARS2 4 2 2 0 2 0 0 0 1 10
LOC129935473, NDUFS1 0 0 9 1 2 0 0 0 0 10
LOC130060311, TTC19 1 1 7 0 1 0 0 0 0 10
MTPAP 1 0 7 0 2 0 0 0 0 10
PDP1 3 0 6 0 1 0 0 0 0 10
TMEM126B 6 5 3 0 0 0 0 0 0 10
TRMT5 4 2 4 1 0 0 0 0 0 10
ATP5F1A 6 2 2 0 0 0 0 0 0 9
COQ9, LOC112469007 1 0 7 1 0 0 0 0 0 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 0 9
LOC101928525, MRPS2 3 2 6 0 0 0 0 0 0 9
LOC126807509, UQCRQ 1 0 8 0 0 0 0 0 0 9
LOC130009240, PUS1 1 3 2 2 1 0 0 0 0 9
LOC130062145, NDUFV2 0 0 9 0 0 0 0 0 0 9
LOC130067864, TYMP 7 2 3 0 1 0 0 0 0 9
MRPL44 5 2 1 1 0 0 0 0 2 9
PET100, STXBP2 3 1 4 2 0 0 0 0 0 9
C2orf69 7 1 0 0 0 0 0 0 0 8
COX10, LOC105943586 0 0 6 1 2 0 0 0 0 8
CYC1 2 0 2 1 3 0 0 0 0 8
FDXR 8 0 0 0 0 0 0 0 0 8
LOC126806913, OPA1 4 1 2 0 1 0 0 0 0 8
LOC130000614, TMEM70 1 0 2 6 0 0 0 0 0 8
LOC132090059, PUS1 1 2 3 2 3 0 0 0 0 8
MPC1 2 4 2 0 0 0 0 0 0 8
NDUFA6 6 0 1 0 1 0 0 0 0 8
UQCC2 3 0 2 2 1 0 0 0 0 8
COA6 3 0 1 1 2 0 0 0 0 7
COX11 4 0 3 0 0 0 0 0 0 7
COX4I2 1 0 4 1 1 0 0 0 0 7
FARS2, LYRM4 4 1 2 0 0 0 0 0 0 7
GAMT, NDUFS7 0 0 0 7 1 0 0 0 0 7
HADHA, HADHB 2 0 2 2 1 0 0 0 0 7
LOC129388857, LRPPRC 0 2 3 2 0 0 0 0 0 7
LOC129931761, NDUFS2 0 0 4 1 2 0 0 0 0 7
LOC130006217, NDUFV1 0 1 5 1 1 0 0 0 0 7
LOC130064279, SDHAF1 2 1 4 0 0 0 0 0 0 7
RNASEH1 3 1 2 0 2 0 0 0 0 7
SCO2, TYMP 0 0 5 3 1 0 0 0 0 7
TAMM41 6 0 1 0 0 0 0 0 0 7
AVIL, TSFM 0 0 2 0 4 0 0 0 0 6
C1QBP 6 0 0 0 0 0 0 0 0 6
DNAJC30 4 1 1 0 0 0 0 0 0 6
ERCC8, NDUFAF2 1 1 1 1 2 0 0 0 0 6
FASTKD2, LOC126806484 3 0 3 0 0 0 0 0 0 6
FOXRED1, LOC130007026 0 0 5 0 1 0 0 0 0 6
GCSH 6 0 0 0 0 0 0 0 0 6
LOC112903839, MRPS22 0 0 6 0 0 0 0 0 0 6
LOC126862983, MGME1 2 1 2 1 1 0 0 0 0 6
LOC129996857, NDUFAF4 1 1 4 0 1 0 0 0 0 6
LOC130000897, RRM2B 0 0 2 0 5 0 0 0 0 6
LOC130059156, TK2 1 1 3 1 1 0 0 0 0 6
MGME1 1 1 2 1 0 0 0 0 1 6
MRPL3 1 1 3 0 0 0 0 0 1 6
MT-RNR1 5 0 2 0 0 0 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 5 0 0 0 0 6
NDUFA8 2 1 3 0 0 0 0 0 0 6
NDUFB8 4 1 1 0 0 0 0 0 0 6
SLC25A21 2 0 1 0 3 0 0 0 0 6
ATPAF2, LOC130060411 0 0 3 1 1 0 0 0 0 5
COQ6 1 1 1 2 1 0 0 0 0 5
COX14 1 0 2 2 0 0 0 0 0 5
GATB 2 0 2 0 1 0 0 0 0 5
GFER, LOC130058203 3 2 1 1 0 0 0 0 0 5
LOC129934178, SUCLG1 0 0 4 1 0 0 0 0 0 5
LOC129936729, NDUFAF3 2 0 3 0 0 0 0 0 0 5
LOC129993501, SLC25A4 0 0 2 0 3 0 0 0 0 5
LOC130064281, SDHAF1 0 0 3 1 1 0 0 0 0 5
MPHOSPH9, MTRFR 0 0 5 0 0 0 0 0 0 5
MRPL36, NDUFS6 0 0 3 2 1 0 0 0 0 5
MRPL39 4 5 0 0 0 0 0 0 0 5
MT-CO1, MT-TS1 5 0 0 1 1 0 0 0 5 5
MYCL, TRIT1 1 1 3 0 1 0 0 0 0 5
NDUFB11 2 2 2 0 0 0 0 0 0 5
NDUFB9 2 0 1 2 0 0 0 0 0 5
NSUN3 4 1 0 0 0 0 0 0 0 5
SLC25A10 2 2 1 0 1 0 0 0 0 5
TTC19, ZSWIM7 0 0 3 2 0 0 0 0 0 5
ABI1, PDSS1 0 0 2 2 1 0 0 0 0 4
AIFM1 0 0 4 0 0 0 0 0 0 4
ATP5F1D 2 0 2 0 0 0 0 0 0 4
CENPL, DARS2 0 0 4 0 0 0 0 0 0 4
CLPP, LOC130063288 1 2 0 0 1 0 0 0 1 4
COA3 2 0 2 0 0 0 0 0 0 4
COQ7, COQ7-DT, LOC130058587 1 2 1 0 0 0 0 0 1 4
DAP3 1 2 1 0 0 0 0 0 0 4
FH, LOC129932888 2 0 2 0 0 0 0 0 0 4
LARS1 1 3 0 0 0 0 0 0 0 4
LOC113788297, NDUFAF6 0 0 3 1 0 0 0 0 0 4
LOC129936730, NDUFAF3 0 1 3 0 0 0 0 0 0 4
LOC129999056, PMPCB 0 1 3 0 0 0 0 0 0 4
LOC130067866, TYMP 0 0 4 0 0 0 0 0 0 4
MRPL49 0 4 0 0 0 0 0 0 0 4
MRPS34 1 2 1 0 0 0 0 0 0 4
NDUFA13 1 1 2 0 0 0 0 0 0 4
NDUFB3 3 2 0 0 0 0 0 0 0 4
SCO2 0 0 3 1 2 0 0 0 0 4
TFAM 1 2 2 0 0 0 0 0 0 4
TXN2 1 0 1 1 1 0 0 0 0 4
UQCRB 1 0 1 1 1 0 0 0 0 4
ACAD9, CFAP92 1 2 0 0 0 0 0 0 0 3
AIFM1, LOC126863317, RAB33A 0 0 0 3 0 0 0 0 0 3
ATP5MK 1 1 1 0 0 0 0 0 0 3
COX10, LOC130060303 1 0 1 1 1 0 0 0 0 3
COX20, LOC129932912 2 0 0 1 0 0 0 0 0 3
COX4I1 2 0 0 1 0 0 0 0 0 3
COX8A 1 0 1 1 0 0 0 0 0 3
COX8A, LOC130005904 0 0 0 2 1 0 0 0 0 3
CRLS1 3 0 0 0 0 0 0 0 0 3
FARS2, LOC129995672, LYRM4 0 0 1 1 1 0 0 0 0 3
FDX2, FDX2-ZGLP1 2 1 1 0 1 0 0 0 0 3
GGA3, MRPS7 0 0 0 0 3 0 0 0 0 3
LOC112081413, NDUFS8 0 0 2 1 1 0 0 0 0 3
LOC126861339, SDHD 0 0 2 0 1 0 0 0 0 3
LOC129936731, NDUFAF3 1 0 2 0 0 0 0 0 0 3
LOC130000896, RRM2B 1 2 1 0 0 0 0 0 0 3
LOC130006551, TMEM126A 0 0 2 0 1 0 0 0 0 3
LOC130060312, TTC19 0 0 2 1 0 0 0 0 0 3
LOC130064074, NDUFA13 0 2 1 0 0 0 0 0 0 3
LOC130064280, SDHAF1 3 0 0 0 0 0 0 0 0 3
MICOS13 3 0 0 0 0 0 0 0 0 3
MIR6766, POLG, POLGARF 0 1 0 2 0 0 0 0 0 3
MRM2 3 0 0 0 0 0 0 0 0 3
NCOR1, TTC19 0 0 2 0 1 0 0 0 0 3
NDUFA4 2 1 0 0 0 0 0 0 0 3
NFS1 1 0 3 0 0 0 0 0 0 3
TIMM22 2 0 1 0 1 0 0 0 0 3
TRMT10C 2 1 0 0 0 0 0 0 0 3
UQCRFS1 3 1 0 0 0 0 0 0 0 3
​intergenic 1 1 0 0 0 0 0 0 0 2
ARF1, C1orf35, GJC2, GUK1, IBA57, MRPL55, OBSCN, WNT3A 1 0 1 0 0 0 0 0 0 2
ATP5F1E, SLMO2-ATP5E 1 0 1 0 0 0 0 0 0 2
BCS1L, LOC129935609 0 0 2 0 0 0 0 0 0 2
BOLA3, TET3 0 0 2 0 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 0 0 2
CARS2, NAXD 0 0 2 0 0 0 0 0 0 2
CHML, EXO1, FH, KMO, OPN3, WDR64 1 0 1 0 0 0 0 0 0 2
COQ5 1 1 0 0 0 0 0 0 0 2
COX15, LOC130004506 0 1 1 0 0 0 0 0 0 2
COX20, HNRNPU 1 1 0 0 0 0 0 0 0 2
COX5A 2 0 0 0 0 0 0 0 0 2
COX6A1 1 1 1 0 0 0 0 0 0 2
COX6A2 2 2 0 0 0 0 0 0 0 2
COX6B1, LOC130064250 0 0 2 0 0 0 0 0 0 2
DNAJC30, LOC129998603 2 1 0 0 0 0 0 0 0 2
EARS2, LOC130058664 0 0 2 0 0 0 0 0 0 2
ECHS1, LOC130005023 0 2 0 0 0 0 0 0 0 2
EDAR, RANBP2 1 1 0 0 0 0 0 0 0 2
EME2, MRPS34 1 1 0 0 1 0 0 0 0 2
ERAL1, LOC126862526 1 0 0 0 1 0 0 0 1 2
FANCI, POLG, POLGARF 0 1 0 1 0 0 0 0 0 2
FBN1 1 1 0 0 0 0 0 0 0 2
FDX2, FDX2-ZGLP1, LOC130063486 0 0 1 0 1 0 0 0 0 2
GATC, LOC112163529 1 0 1 0 0 0 0 0 0 2
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 0 0 0 2
ISCA1, LOC130001967 1 0 1 0 0 0 0 0 1 2
ITM2B, LPAR6, MED4, NUDT15, RB1, RCBTB2, SUCLA2 1 0 1 0 0 0 0 0 0 2
LBHD1, UQCC3 1 0 0 0 1 0 0 0 0 2
LOC125371495, NDUFA13 2 1 0 0 0 0 0 0 0 2
LOC129935364, MARS2 1 1 0 0 0 0 0 0 0 2
LOC129996722, MTO1 0 0 2 0 0 0 0 0 0 2
LOC130006506, NARS2 1 1 1 0 0 0 0 0 0 2
LOC130060309, TTC19, ZSWIM7 0 0 2 0 0 0 0 0 0 2
LOC130061928, NDUFAF8 2 0 0 0 0 0 0 0 0 2
LOC130064118, UQCRFS1 0 0 0 0 2 0 0 0 0 2
LOC130067861, SCO2 0 0 2 0 0 0 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 0 0 0 2
LOC130068621, NDUFA1 1 0 1 1 1 0 0 0 1 2
LYRM4 1 0 1 0 0 0 0 0 0 2
MRPS14 1 0 1 0 0 0 0 0 0 2
MRPS2 0 0 2 0 0 0 0 0 0 2
MRPS23 1 1 1 0 0 0 0 0 0 2
MRPS7 1 1 1 0 0 0 0 0 0 2
MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 2 0 0 0 0 0 0 0 0 2
MTSS1, NDUFB9 0 0 0 0 2 0 0 0 0 2
NDUFA1 1 0 1 0 0 0 0 0 0 2
NDUFAF8 2 2 0 0 0 0 0 0 0 2
NDUFB7 1 0 1 0 0 0 0 0 0 2
NDUFC2, NDUFC2-KCTD14 2 0 0 0 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 2 1 0 0 0 0 2
OXA1L 2 0 0 0 0 0 0 0 0 2
RRM1 2 0 0 0 0 0 0 0 0 2
SLIRP 0 2 0 0 0 0 0 0 0 2
UQCRC2 0 0 2 0 0 0 0 0 0 2
VPS13D 0 1 1 0 0 0 0 0 0 2
ABCA2, ABL1, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AIF1L, AJM1, AK8, ANAPC2, ARRDC1, ASB6, ASS1, BARHL1, BRD3, C8G, C9orf163, C9orf50, C9orf78, CACFD1, CACNA1B, CAMSAP1, CARD9, CCDC183, CEL, CERCAM, CFAP77, CIMIP2A, CLIC3, COL5A1, COQ4, CRAT, CYSRT1, DBH, DDX31, DIPK1B, DNLZ, DOLK, DOLPP1, DPH7, DPP7, DYNC2I2, EDF1, EGFL7, EHMT1, ENDOG, ENTPD2, ENTPD8, ENTR1, EXD3, EXOSC2, FAM163B, FAM78A, FBXW5, FCN1, FCN2, FIBCD1, FNBP1, FUBP3, FUT7, GBGT1, GFI1B, GLE1, GLT6D1, GPR107, GPSM1, GRIN1, GTF3C4, GTF3C5, HMCN2, IER5L, INPP5E, KCNT1, KYAT1, LAMC3, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, LINC02913, LOC651337, LRRC26, LRRC8A, MAMDC4, MAN1B1, MED22, MED27, MIGA2, MIR126, MRPL41, MRPS2, MYMK, NACC2, NCS1, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, NTMT1, NTNG2, NUP188, NUP214, OBP2A, OBP2B, ODF2, OLFM1, PAEP, PAXX, PHPT1, PHYHD1, PIERCE1, PKN3, PLPP7, PMPCA, PNPLA7, POMT1, PPP1R26, PRDM12, PRRC2B, PRRX2, PTGDS, PTGES, PTPA, QRFP, QSOX2, RABL6, RALGDS, RAPGEF1, REXO4, RNF208, RNF224, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SET, SETX, SH3GLB2, SLC27A4, SLC2A6, SLC34A3, SNAPC4, SNHG7, SOHLH1, SPACA9, SPOUT1, SPTAN1, SSNA1, STKLD1, STPG3, SURF1, SURF2, SURF4, SURF6, TBC1D13, TMEM141, TMEM203, TMEM210, TMEM250, TOR1A, TOR1B, TOR4A, TPRN, TRAF2, TSC1, TTF1, TUBB4B, UAP1L1, UBAC1, UCK1, URM1, USP20, VAV2, WDR5, ZDHHC12, ZER1, ZMYND19 0 0 1 0 0 0 0 0 0 1
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 0 1
ABHD6, ACOX2, APPL1, ARF4, ASB14, DENND6A, DNAH12, DNASE1L3, FLNB, HESX1, IL17RD, KCTD6, PDE12, PDHB, PXK, RPP14, SLMAP 0 0 1 0 0 0 0 0 0 1
ACAT2, AGPAT4, AIRN, DYNLT1, EZR, FNDC1, GTF2H5, IGF2R, LINC02901, LPA, MAP3K4, MAS1, MRPL18, PLG, PNLDC1, PRKN, RSPH3, SERAC1, SLC22A1, SLC22A2, SLC22A3, SOD2, SYTL3, TAGAP, TCP1, TMEM181, TULP4, WTAP 1 0 0 0 0 0 0 0 0 1
ACO2 0 0 1 0 0 0 0 0 0 1
ADGRF3, DRC1, HADHB, OTOF, SELENOI 1 0 0 0 0 0 0 0 0 1
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 0 0 0 0 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 0 0 0 1
AGK, AGK-DT 0 0 1 0 0 0 0 0 0 1
AGK, AGK-DT, LOC129999511 0 0 1 0 0 0 0 0 0 1
AGK, BRAF, CLEC5A, DENND11, MGAM, MRPS33, OR9A4, PRSS37, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TMEM178B, WEE2 1 0 0 0 0 0 0 0 0 1
AIFM1, APLN, BCORL1, ELF4, OCRL, SASH3, UTP14A, XPNPEP2, ZDHHC9 0 0 1 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, LOC101929270, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC124310652, LOC124310653, LOC124310654, LOC126860771, LOC129390114, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, LOC130002712, LOC130002713, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 1 0 0 0 0 0 0 0 0 1
ALG9, BCO2, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, IL18, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, PTS, SDHD, SIK2, TEX12, TIMM8B 0 0 1 0 0 0 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 0 0 0 1
AMN, BAG5, CDC42BPB, CKB, COA8, EIF5, EIF5-DT, EXOC3L4, LBHD2, LINC00605, LINC00677, LOC105378183, LOC112163684, LOC116268464, LOC121838600, LOC121838601, LOC125078042, LOC125078043, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC130056529, LOC130056530, LOC130056531, LOC130056532, LOC130056533, LOC130056534, LOC130056535, LOC130056536, LOC130056537, LOC130056538, LOC130056539, LOC130056540, LOC130056541, LOC130056542, LOC130056543, LOC130056544, LOC130056545, LOC130056546, LOC130056547, LOC130056548, LOC130056549, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, LOC130056555, LOC130056556, LOC130056557, LOC130056558, LOC130056559, LOC130056560, LOC130056561, LOC130056562, LOC130056563, LOC130056564, LOC130056565, LOC130056566, LOC130056567, LOC130056568, LOC130056569, LOC130056570, LOC130056571, LOC130056572, LOC130056573, LOC130056574, LOC130056575, LOC130056576, LOC130056577, LOC130056578, LOC130056579, LOC130056580, LOC130056581, LOC130056582, LOC130056583, LOC130056584, LOC130056585, LOC130056586, LOC130056587, MARK3, RCOR1, SNORA28, TNFAIP2, TRAF3, TRMT61A 1 0 0 0 0 0 0 0 0 1
ANKRD11, SPG7 1 0 0 0 0 0 0 0 0 1
AP4S1, ARHGAP5, DTD2, GPR33, HEATR5A, HEATR5A-DT, HECTD1, LINC02313, LOC112267854, LOC121838588, LOC124995355, LOC124995356, LOC124995359, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC129390617, LOC129390618, LOC129390619, LOC130055443, LOC130055444, LOC130055445, LOC130055446, LOC130055447, LOC130055448, LOC130055449, LOC130055450, LOC130055451, LOC130055452, LOC130055453, LOC130055454, MIR624, NUBPL, NUBPL-DT, STRN3 0 0 1 0 0 0 0 0 0 1
APBB2, CHRNA9, FAM114A1, KLB, KLHL5, LIAS, LIMCH1, N4BP2, NSUN7, PDS5A, PHOX2B, RBM47, RFC1, RHOH, RPL9, SMIM14, TLR1, TLR10, TLR6, TMEM156, UBE2K, UCHL1, UGDH, WDR19 0 0 1 0 0 0 0 0 0 1
APOB 0 0 1 0 0 0 0 0 0 1
APTX 0 0 1 0 0 0 0 0 0 1
ATP13A3, CPN2, FAM43A, GP5, HES1, LRRC15, LSG1, OPA1, TMEM44 0 1 0 0 0 0 0 0 0 1
ATP5PO 1 0 0 0 0 0 0 0 0 1
ATP5PO, LOC126653351 1 1 0 0 0 0 0 0 0 1
ATP5PO, LOC130066573 1 0 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 1
ATPAF2, LOC130060409 1 0 1 0 0 0 0 0 0 1
ATPAF2, LOC130060410 0 1 0 0 0 0 0 0 0 1
ATXN8, ATXN8OS 1 0 0 0 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 0 0 0 1
ATXN8OS 0 1 0 0 0 0 0 0 0 1
BBLN, CERCAM, CIZ1, COQ4, DNM1, GLE1, GOLGA2, LCN2, LOC101929270, LOC113839516, LOC113839517, LOC113839524, LOC124310652, LOC124310653, LOC129390114, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR3154, ODF2, SLC27A4, SWI5, TRR-TCT3-1, TRUB2, URM1 0 0 1 0 0 0 0 0 0 1
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 0 0 0 0 1
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 0 0 0 1
CEP55 0 0 1 0 0 0 0 0 0 1
CHML, EXO1, FH, KMO, MAP1LC3C, OPN3, PLD5, WDR64 1 0 0 0 0 0 0 0 0 1
CLCNKB, LOC106501713 0 0 0 0 1 0 0 0 0 1
CLDN14, SGO2 1 0 0 0 0 0 0 0 0 1
COA5 1 0 0 0 0 0 0 0 0 1
COQ7, LOC130058587 0 0 0 0 1 0 0 0 0 1
COQ8A, LOC129932681 0 0 1 0 0 0 0 0 0 1
COQ8A, LOC129932682 0 0 0 0 1 0 0 0 0 1
COX10, COX10-DT 0 0 1 0 0 0 0 0 0 1
COX16, SYNJ2BP-COX16 1 0 0 0 0 0 0 0 0 1
COX18 0 0 1 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 0 1
DLD, SLC26A3 1 0 0 0 0 0 0 0 0 1
DLST 0 0 1 0 0 0 0 0 0 1
DTD2, GPR33, HEATR5A, NUBPL 1 0 0 0 0 0 0 0 0 1
ECHS1 0 1 0 0 0 0 0 0 0 1
EDNRB 0 0 0 0 1 0 0 0 0 1
EEF1A1, MTO1 0 0 0 0 1 0 0 0 0 1
EME2, LOC130058183, MRPS34 0 0 1 0 0 0 0 0 0 1
EME2, LOC130058184, MRPS34 1 1 0 0 0 0 0 0 0 1
ERAL1 0 0 1 0 0 0 0 0 0 1
F13A1, FARS2, LYRM4, NRN1 1 0 0 0 0 0 0 0 0 1
F13A1, FARS2, NRN1 0 0 1 0 0 0 0 0 0 1
FAM135A 0 0 0 1 0 0 0 0 0 1
FARS2, LOC101927950, LOC126859568, LOC129995681, LOC129995682 1 1 0 0 0 0 0 0 0 1
FARS2, LOC121099722, LOC126859565, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678 0 1 0 0 0 0 0 0 0 1
FARS2, LOC126859565, LOC129995678 1 0 0 0 0 0 0 0 0 1
FDXR, LOC112533667 1 0 0 0 0 0 0 0 0 1
GATB, LOC129993225 0 0 0 0 1 0 0 0 0 1
GCSH, LOC130059495 1 0 0 0 0 0 0 0 0 1
GYG2 0 0 0 0 0 0 0 0 1 1
HIBCH 0 0 1 0 0 0 0 0 0 1
HTRA2 0 0 1 0 0 0 0 0 0 1
HTRA2, LOXL3 0 0 1 0 0 0 0 0 0 1
ISCA1 1 1 1 0 0 0 0 0 1 1
KAT14, PET117 1 1 0 0 0 0 0 0 0 1
KLB, LIAS, RPL9 0 0 1 0 0 0 0 0 0 1
LIAS, LOC112939935, LOC129992453 0 0 1 0 0 0 0 0 0 1
LIAS, RPL9 0 0 1 0 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 0 0 0 1
LOC105374114, MRPL3 1 0 0 0 0 0 0 0 0 1
LOC110121048, LOC124174282, LOC124174283, LOC130000643, LOC130000644, MRPS28, TPD52-MRPS28 1 0 0 0 0 0 0 0 0 1
LOC126805821, SARS1 0 0 0 1 0 0 0 0 0 1
LOC129390841, TTC19 1 0 0 0 0 0 0 0 0 1
LOC129933155, NBAS 0 1 0 0 0 0 0 0 0 1
LOC129933372, MPV17 0 0 1 0 0 0 0 0 0 1
LOC129935366, MARS2 0 0 1 0 0 0 0 0 0 1
LOC129936948, PDHB 0 0 1 0 0 0 0 0 0 1
LOC129996910, QRSL1, RTN4IP1 0 0 1 0 0 0 0 0 0 1
LOC130000734, PDP1 0 0 0 0 1 0 0 0 0 1
LOC130003597, MTPAP 0 0 0 0 1 0 0 0 0 1
LOC130005548, PDHX 0 0 0 1 0 0 0 0 0 1
LOC130006508, NARS2 0 0 1 0 0 0 0 0 0 1
LOC130008523, SLC25A3 1 0 0 0 0 0 0 0 0 1
LOC130009384, LOC130009385, MIPEP 0 1 0 0 0 0 0 0 0 1
LOC130009386, MIPEP 1 0 0 0 0 0 0 0 0 1
LOC130055775, TRMT5 0 0 1 0 0 0 0 0 0 1
LOC130057874, MIR6766, POLG, POLGARF 0 0 1 0 0 0 0 0 0 1
LOC130058183, MRPS34 1 0 0 0 0 0 0 0 0 1
LOC130059818, LOC130059819, LOC130059820, LOC130059821, SPG7 1 0 0 0 0 0 0 0 0 1
LOC130059818, LOC130059819, SPG7 1 0 0 0 0 0 0 0 0 1
LOC130059820, LOC130059821, SPG7 1 0 0 0 0 0 0 0 0 1
LOC130060310, TTC19, ZSWIM7 0 0 1 0 0 0 0 0 0 1
LOC130061928, LOC130061929, NDUFAF8 1 0 0 0 0 0 0 0 0 1
LOC130063256, MICOS13 0 0 1 0 0 0 0 0 0 1
LOC130065434, NDUFAF5 0 0 0 0 1 0 0 0 0 1
LY96, TMEM70 1 0 0 0 0 0 0 0 0 1
MADD 1 0 0 0 0 0 0 0 0 1
MIPEP, PCOTH 0 0 1 0 0 0 0 0 0 1
MMUT 0 1 0 0 0 0 0 0 0 1
MPV17, UCN 1 0 0 0 0 0 0 0 0 1
MRPL12 1 0 0 0 0 0 0 0 0 1
MRPS28, TPD52-MRPS28 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 1 0 0 0 0 0 0 1 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TD, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-TR, MT-TS1 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 1 0 0 0 0 0 0 1 1
MT-ATP6, MT-ATP8, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TR 1 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-TK, MT-TL2, MT-TR, MT-TS2 1 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 1 1
MT-ATP6, MT-CO3 1 1 0 0 0 0 0 0 0 1
MT-ATP6, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TE, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 0 0 0 1
MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TE, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 0 0 0 1
MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TE, MT-TH, MT-TL2, MT-TS2 1 0 0 0 0 0 0 0 0 1
MT-ND1, MT-RNR1 1 1 0 0 0 0 1 0 0 1
MT-ND1, MT-TL1 1 1 0 0 0 0 0 0 1 1
MT-ND4, MT-ND5, MT-ND6, MT-TH, MT-TL2, MT-TS2 1 0 0 0 0 0 0 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 0 0 0 1 1
MT-RNR1, MT-TS1 1 1 0 0 0 0 1 0 1 1
MUTYH 0 1 0 0 0 0 0 0 0 1
NDUFAF7 0 0 0 0 0 0 0 0 1 1
NDUFB10 0 1 0 0 0 0 0 0 0 1
OSBPL7 0 0 1 0 0 0 0 0 0 1
PIGY, PYURF 1 0 0 0 0 0 0 0 0 1
PITRM1 1 0 0 0 0 0 0 0 0 1
POLG, POLG-DT 0 0 0 0 1 0 0 0 0 1
POLG, RLBP1 1 0 0 0 0 0 0 0 0 1
PRICKLE3 0 0 0 0 0 0 0 1 0 1
PYROXD2 0 0 1 0 0 0 0 0 0 1
RARS2, SLC35A1 0 0 0 0 1 0 0 0 0 1
RP1 0 0 1 0 0 0 0 0 0 1
SARS1 0 0 0 1 0 0 0 0 0 1
SLC25A42 0 1 0 0 0 0 0 0 0 1
SUCLG2 0 0 0 0 0 0 0 0 1 1
TCIRG1 0 0 0 1 0 0 0 0 0 1
THAP1 1 0 0 0 0 0 0 0 0 1
TIMM50 1 0 0 0 0 0 0 0 0 1
UQCRH 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 313
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects drug response risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1302 422 6736 7967 695 0 0 0 0 17122
Illumina Laboratory Services, Illumina 23 26 3387 469 948 0 0 0 0 4703
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 177 141 1343 585 957 0 0 0 0 3202
Baylor Genetics 324 887 634 0 0 0 0 0 0 1841
OMIM 1272 0 12 0 1 1 0 1 0 1287
Fulgent Genetics, Fulgent Genetics 90 119 510 256 33 0 0 0 0 1007
Natera, Inc. 37 27 416 167 99 0 0 0 0 746
Genome-Nilou Lab 10 7 55 37 429 0 0 0 0 538
Revvity Omics, Revvity 65 89 306 3 0 0 0 0 0 463
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 219 183 1 0 0 0 0 0 0 403
GeneReviews 82 0 5 0 5 0 0 0 247 339
Mendelics 160 38 23 18 35 0 0 0 0 274
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 103 56 93 2 1 0 0 0 0 255
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 27 74 97 6 24 0 0 0 0 228
Neuberg Centre For Genomic Medicine, NCGM 24 48 106 0 0 0 0 0 0 178
3billion 55 38 52 24 0 0 0 0 0 169
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 38 56 68 1 0 0 0 0 0 160
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 98 59 0 0 0 0 0 0 0 157
Myriad Genetics, Inc. 2 126 4 0 0 0 0 0 0 132
Counsyl 4 59 37 7 2 0 0 0 0 109
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 12 10 80 0 0 0 0 106
MGZ Medical Genetics Center 28 30 42 0 0 0 0 0 0 100
Wellcome Centre for Mitochondrial Research, Newcastle University 91 8 0 0 0 0 0 0 0 99
Centre for Mendelian Genomics, University Medical Centre Ljubljana 25 20 42 3 6 0 0 0 0 95
Institute of Human Genetics, University of Leipzig Medical Center 33 24 33 0 1 0 0 0 0 91
Genomic Research Center, Shahid Beheshti University of Medical Sciences 17 15 53 2 2 0 0 0 0 89
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 85 85
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 14 34 21 0 0 0 0 0 0 69
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 33 21 12 0 0 0 0 0 0 66
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 0 0 0 58
SIB Swiss Institute of Bioinformatics 8 29 16 0 0 0 0 0 0 53
Juno Genomics, Hangzhou Juno Genomics, Inc 14 28 11 0 0 0 0 0 0 53
Undiagnosed Diseases Network, NIH 21 11 16 0 0 0 0 0 0 48
New York Genome Center 5 10 30 0 0 0 0 0 0 45
Paris Brain Institute, Inserm - ICM 42 0 0 0 0 0 0 0 0 42
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 14 15 13 0 0 0 0 0 0 42
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 16 18 0 4 0 0 0 0 41
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 14 24 2 0 0 0 0 0 0 40
Genomics England Pilot Project, Genomics England 17 22 0 0 0 0 0 0 0 39
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 12 19 7 0 0 0 0 0 0 37
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 8 21 8 0 0 0 0 0 0 37
Solve-RD Consortium 0 36 0 0 0 0 0 0 0 36
Genetic Services Laboratory, University of Chicago 15 15 0 0 0 0 0 0 0 30
Centogene AG - the Rare Disease Company 12 3 13 0 0 0 0 0 0 28
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 16 5 7 0 0 0 0 0 0 28
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 11 11 2 0 0 0 2 1 0 27
Genetics and Molecular Pathology, SA Pathology 8 9 9 0 0 0 0 0 0 26
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 9 16 0 0 0 0 26
Kids Research, The Children's Hospital at Westmead 13 11 2 0 0 0 0 0 0 26
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 2 23 0 0 0 0 0 0 26
Mayo Clinic Laboratories, Mayo Clinic 3 2 20 0 0 0 0 0 0 25
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 12 12 1 0 0 0 0 0 0 25
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 17 0 0 0 0 0 0 0 23
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 16 6 0 0 0 0 0 0 23
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 17 6 0 0 0 0 0 0 0 23
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 18 1 0 0 0 0 0 22
Molecular Genetics, Royal Melbourne Hospital 6 3 3 1 9 0 0 0 0 22
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 5 15 0 0 0 0 0 0 21
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 20 20
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 5 9 0 0 0 0 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 7 10 0 0 0 0 19
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 6 4 5 0 0 0 0 18
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 7 11 0 0 0 0 0 0 0 18
Pediatric Department, Xiangya Hospital, Central South University 7 7 4 0 0 0 0 0 0 18
DASA 13 5 0 0 0 0 0 0 0 18
Houlden Lab, UCL Institute of Neurology 1 12 4 0 0 0 0 0 0 17
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 15 1 0 0 0 0 0 0 0 16
SingHealth Duke-NUS Institute of Precision Medicine 0 7 8 1 0 0 0 0 0 16
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 3 4 0 0 0 0 0 0 15
UCLA Clinical Genomics Center, UCLA 2 12 0 0 0 0 0 0 0 14
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 10 1 3 0 0 0 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 4 1 0 0 0 0 0 0 14
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 7 6 0 0 0 0 0 0 0 13
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 8 2 0 0 0 0 0 0 13
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 5 8 0 0 0 0 0 0 13
Breakthrough Genomics, Breakthrough Genomics 6 7 0 0 0 0 0 0 0 13
Elsea Laboratory, Baylor College of Medicine 5 4 1 2 0 0 0 0 0 12
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 9 1 0 0 0 0 0 0 12
Pars Genome Lab 0 0 2 0 10 0 0 0 0 12
Suma Genomics 4 5 3 0 0 0 0 0 0 12
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 1 8 0 0 0 0 0 0 11
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 4 4 0 0 0 0 0 0 11
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 11 11
Newman Lab, University of Manchester 1 8 2 0 0 0 0 0 0 11
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 8 3 0 0 0 0 0 0 0 11
Institute of Human Genetics, University of Goettingen 1 1 8 0 0 0 0 0 0 10
Institute of Human Genetics, Cologne University 3 3 4 0 0 0 0 0 0 10
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 3 7 0 0 0 0 0 0 10
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 4 1 5 0 0 0 0 0 0 10
Department of Molecular and Human Genetics, Baylor College of Medicine 8 0 1 0 0 0 0 0 0 9
Division of Human Genetics, Children's Hospital of Philadelphia 3 3 3 0 0 0 0 0 0 9
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 0 0 1 0 0 0 0 0 9
Institute of Human Genetics, University Hospital of Duesseldorf 5 1 3 0 0 0 0 0 0 9
Center for Molecular Medicine, Children’s Hospital of Fudan University 4 4 1 0 0 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 1 2 5 0 1 0 0 0 0 9
Clinical Genomics Laboratory, Stanford Medicine 1 2 6 0 0 0 0 0 0 9
Lifecell International Pvt. Ltd 3 6 0 0 0 0 0 0 0 9
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 6 1 0 0 0 0 0 0 8
Neurogenetics of motion laboratory, Montreal Neurological Institute 8 0 0 0 0 0 0 0 0 8
Hadassah Hebrew University Medical Center 1 7 0 0 0 0 0 0 0 8
Laboratory of Metabolic Disorders, Peking University First Hospital 8 0 0 0 0 0 0 0 0 8
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 5 2 1 0 0 0 0 0 0 8
Breda Genetics srl 1 1 6 0 0 0 0 0 0 8
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 4 2 1 1 0 0 0 0 0 8
MVZ Medizinische Genetik Mainz 1 1 6 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 3 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 0 0 0 0 0 0 0 0 7
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 2 0 0 0 0 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 2 2 0 0 0 0 0 0 7
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 1 4 0 0 0 0 0 0 7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 5 0 0 0 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 3 3 1 0 0 0 0 0 0 7
Department of Pathophysiology and Transplantation, University of Milan 5 1 1 0 0 0 0 0 0 7
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 3 3 0 0 0 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 4 0 3 0 0 0 0 0 0 7
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 6 0 0 0 0 0 0 0 0 6
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 4 1 1 0 0 0 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 3 0 3 0 0 0 0 0 0 6
Bruce Lefroy Centre, Murdoch Childrens Research Institute 2 4 0 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 3 0 0 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 3 1 0 0 0 0 0 0 6
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 4 1 0 0 0 0 0 0 6
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 3 2 0 0 0 0 0 0 6
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 3 2 1 0 0 0 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 3 0 0 0 0 0 0 5
Mitochondrial Research Group, Murdoch Children's Research Institute 2 2 1 0 0 0 0 0 0 5
Reproductive Development, Murdoch Childrens Research Institute 3 2 0 0 0 0 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 3 0 0 0 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 0 0 0 5
Precision Medicine Center, Zhengzhou University 1 4 0 0 0 0 0 0 0 5
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 2 3 0 0 0 0 0 0 5
King Laboratory, University of Washington 1 3 0 0 0 0 0 0 0 4
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 2 1 1 0 0 0 0 0 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 1 3 0 0 0 0 0 0 0 4
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 1 2 1 0 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 2 0 0 0 0 0 0 4
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 2 0 2 0 0 0 0 0 0 4
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 2 1 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 1 0 0 0 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 2 0 0 0 0 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 2 1 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 0 0 0 3
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 3 0 0 0 0 0 0 0 0 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 1 0 0 0 0 0 0 0 3
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 2 0 0 0 0 0 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 3 0 0 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 0 0 0 3
Ege University Pediatric Genetics, Ege University 1 1 1 0 0 0 0 0 0 3
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas 1 0 2 0 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 2 0 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 0 0 0 3
Biochemistry Laboratory of CDMU, Chengde Medical University 1 2 0 0 0 0 0 0 0 3
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 3 0 0 0 0 0 0 0 0 3
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 0 3 0 0 0 0 0 0 3
Department of Heart Center, Qingdao Women and Children's Hospital 1 2 0 0 0 0 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 1 0 0 0 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 1 1 0 0 0 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 1 0 2 0 0 0 0 0 0 3
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 2 0 0 0 0 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 1 1 1 0 0 0 0 0 0 3
Hehr Laboratory, Center for Human Genetics Regensburg 1 1 0 0 0 0 0 0 0 2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 2 0 0 0 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 1 0 0 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 0 0 0 2
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 1 0 1 0 0 0 0 0 2
Samuels research lab, Centre de Recherche du CHU Ste-Justine 2 0 0 0 0 0 0 0 0 2
Simons Lab, The University of Queensland 1 1 0 0 0 0 0 0 0 2
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 0 2 0 0 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 2 0 0 0 0 0 0 2
Centre for Translational Omics - GOSgene, University College London 2 0 0 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 0 2 0 0 0 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 0 0 0 2
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 2 0 0 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 0 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 2 0 0 0 0 0 0 2
Computational Biology Unit, University of Bari 0 2 0 0 0 0 0 0 0 2
Zeviani Lab, University of Cambridge 2 0 0 0 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 0 0 0 0 0 0 0 2
laboratory of biochemistry, Caen University Hospital 2 0 0 0 0 0 0 0 0 2
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 1 1 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 0 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 2 0 0 0 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 1 0 0 0 0 0 0 0 2
Human Genetics Section, Sidra Medicine 0 2 0 0 0 0 0 0 0 2
O&I group, Department of Genetics, University Medical Center of Groningen 1 0 1 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 0 0 0 2
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 2 0 0 0 0 0 0 0 0 2
Department of Toxicogenomics, Maastricht University 0 2 0 0 0 0 0 0 0 2
Rare Diseases Genetics and Genomics, Islamia College Peshawar 2 0 0 0 0 0 0 0 0 2
DBGen Ocular Genomics 1 1 0 0 0 0 0 0 0 2
Vockley Lab, University of Pittsburgh 2 0 0 0 0 0 0 0 0 2
Intractable Disease Research Center, Juntendo University 0 0 2 0 0 0 0 0 0 2
Department of Neurology, Beijing Children's Hospital, Capital Medical University 0 2 0 0 0 0 0 0 0 2
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 1 0 0 0 0 0 0 0 2
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 2 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 1 0 0 0 0 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 1 0 0 0 0 0 0 2
Watson Genetic Lab 0 2 0 0 0 0 0 0 0 2
Dept Of Pediatric Neurology, First Hospital Of Jilin University 0 0 2 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 0 0 0 2
Computational Genomics, IRCCS Azienda Ospedaliero-universitaria Di Bologna 2 0 0 0 0 0 0 0 0 2
Department of Genetics, Suzhou Beikang Medical Laboratory 0 2 0 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
Center for Human Genetics Laboratory, University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 0 0 1
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 0 0 1
Laboratory for Study of Mitochondrial Disorders, Charles University, First Faculty of Medicine - General University Hospital in Prague 1 0 0 0 0 0 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 1 0 0 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 1 1
INSERM U1051, Institut des Neurosciences de Montpellier 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 0 0 1
Department of Human Genetics, McGill University 1 0 0 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 1 0 0 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 0 0 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 1 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 1 0 0 0 0 0 0 0 1
Centre for Molecular Medicine and Therapeutics, University of British Columbia 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 1
Inherited Metabolic Diseases Molecular Laboratory, University of Cape Town / National Health Laboratory Services 1 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 0 0 0 1
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 0 1
Genetics of Mitochondrial Diseases, Imagine Institute 0 1 0 0 0 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 0 0 0 1
Bodamer Research Lab, Boston Children's Hospital 0 0 1 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 0 0 0 1
Department of Pathology and Genetics, University of Gothenburg 1 0 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 1 0 0 0 0 0 0 0 0 1
Department of Neurology and Neurophysiology, Children's University Hospital 0 0 1 0 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 1 0 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 0 0 1
Dept. of Evolution and Genomic Sciences, University of Manchester 0 1 0 0 0 0 0 0 0 1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 0 0 0 1
Manchester Centre for Genomic Medicine, The University of Manchester 0 1 0 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 0 1 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital 0 0 1 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 0 0 0 1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Ro'ya Specialized Medical Laboratories, King Abdulaziz University 1 0 0 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 0 0 1
Department of Genetics, University Medical Center Utrecht 1 0 0 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 0 0 0 1
CMT Laboratory, Bogazici University 0 0 1 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 0 1
Neonatal Research Center, Shiraz University of Medical Science 1 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 0 1
Kuwait Medical Genetics Centre, Kuwait Ministry of Health 0 1 0 0 0 0 0 0 0 1
General Neurology and Ataxia Unit, Universidade Federal de Sao Paulo - Escola Paulista de Medicina 0 1 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 0 0 1
King Saud Bin Abdulaziz University for Health Sciences 1 0 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 1
Department of Cardiology, The Fifth Hospital of Shanxi Medical University 0 0 1 0 0 0 0 0 0 1
Arcensus 0 0 1 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 1 0 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 1
Laboratory of Biochemistry, Assistance Publique Hopitaux de Paris - Bicetre Hospital 1 0 0 0 0 0 0 0 0 1
Children's Medical Center, Molecular Pathology and Cytogenetics Lab, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 0 0 0 1
Eleanor M. Freitas Health Laboratory 0 1 0 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Government Thiruvarur Medical College and Hospital 1 0 0 0 0 0 0 0 0 1
Lab of Hepatology and Endocrinology, Hunan Children's Hospital 0 1 0 0 0 0 0 0 0 1
Lab of Neurogenetics and Mitochondrial Disorders, Fondazione IRCCS Istituto Neurologico Besta 0 1 0 0 0 0 0 0 0 1

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