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.
Gene and significance breakdown #
Total genes and gene combinations: 393
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
risk factor |
not provided |
total |
SYNE1
|
132
|
49
|
2311
|
1503
|
228
|
0 |
0 |
4
|
4037
|
CACNA1A
|
209
|
109
|
966
|
1113
|
132
|
0 |
0 |
38
|
2480
|
SETX
|
45
|
30
|
490
|
457
|
342
|
0 |
0 |
4
|
1221
|
KIAA0586
|
83
|
35
|
586
|
407
|
56
|
0 |
0 |
2
|
1166
|
SACS
|
127
|
394
|
584
|
165
|
41
|
1
|
0 |
7
|
1148
|
CYP27A1
|
145
|
102
|
360
|
454
|
24
|
0 |
0 |
3
|
985
|
CSPP1
|
74
|
18
|
422
|
275
|
33
|
0 |
0 |
1
|
819
|
WWOX
|
51
|
11
|
301
|
251
|
46
|
0 |
0 |
1
|
656
|
SPG7
|
119
|
42
|
282
|
219
|
37
|
0 |
0 |
10
|
637
|
KCNA1
|
17
|
10
|
286
|
173
|
58
|
0 |
0 |
5
|
515
|
CEP290
|
83
|
40
|
252
|
61
|
21
|
0 |
0 |
2
|
449
|
KIF1C
|
14
|
4
|
151
|
183
|
41
|
0 |
0 |
0 |
385
|
CEP41
|
13
|
5
|
228
|
113
|
24
|
0 |
0 |
0 |
372
|
TMEM237
|
25
|
12
|
203
|
113
|
23
|
0 |
0 |
0 |
357
|
TMEM231
|
30
|
9
|
158
|
126
|
16
|
0 |
0 |
0 |
333
|
KCNJ10
|
19
|
9
|
197
|
93
|
23
|
0 |
0 |
1
|
325
|
AHI1
|
62
|
36
|
174
|
40
|
20
|
0 |
0 |
0 |
315
|
RPGRIP1L
|
18
|
35
|
191
|
40
|
17
|
0 |
0 |
1
|
299
|
KCND3
|
12
|
12
|
107
|
127
|
24
|
0 |
0 |
0 |
276
|
SIL1
|
22
|
7
|
139
|
98
|
18
|
0 |
0 |
0 |
265
|
ITPR1
|
12
|
14
|
121
|
47
|
79
|
0 |
0 |
3
|
261
|
POLR3A
|
22
|
23
|
117
|
27
|
38
|
0 |
0 |
57
|
254
|
MTTP
|
20
|
59
|
114
|
28
|
38
|
0 |
0 |
5
|
246
|
CC2D2A
|
48
|
18
|
124
|
11
|
22
|
0 |
0 |
0 |
216
|
ARFGEF1, CSPP1
|
8
|
5
|
103
|
66
|
10
|
0 |
0 |
0 |
190
|
SPTBN2
|
11
|
19
|
115
|
38
|
21
|
0 |
0 |
2
|
188
|
COQ8A
|
30
|
27
|
80
|
16
|
27
|
0 |
0 |
19
|
168
|
DYNC1H1
|
0 |
0 |
77
|
40
|
51
|
0 |
0 |
0 |
168
|
FLVCR1
|
6
|
5
|
94
|
9
|
47
|
0 |
0 |
1
|
158
|
NPHP1
|
12
|
39
|
86
|
16
|
4
|
0 |
0 |
0 |
156
|
MAF, WWOX
|
6
|
0 |
80
|
52
|
9
|
0 |
0 |
0 |
146
|
ATCAY
|
2
|
0 |
97
|
17
|
29
|
0 |
0 |
0 |
145
|
CACNB4
|
1
|
1
|
85
|
5
|
52
|
0 |
0 |
1
|
144
|
TTPA
|
16
|
38
|
70
|
6
|
10
|
0 |
0 |
15
|
133
|
VLDLR
|
11
|
11
|
84
|
11
|
15
|
0 |
0 |
5
|
133
|
TMEM138
|
13
|
3
|
70
|
42
|
6
|
0 |
0 |
0 |
126
|
PRKCG
|
26
|
20
|
38
|
10
|
18
|
0 |
0 |
15
|
114
|
TMEM67
|
23
|
15
|
44
|
23
|
2
|
0 |
0 |
0 |
106
|
SLC1A3
|
3
|
0 |
49
|
10
|
46
|
0 |
0 |
0 |
105
|
TGM6
|
8
|
3
|
41
|
21
|
37
|
0 |
0 |
0 |
105
|
CAMTA1
|
19
|
15
|
50
|
7
|
10
|
0 |
0 |
1
|
101
|
TTBK2
|
3
|
4
|
47
|
19
|
27
|
0 |
0 |
3
|
99
|
TWNK
|
9
|
10
|
69
|
10
|
7
|
0 |
0 |
4
|
98
|
ANO10
|
15
|
9
|
59
|
5
|
11
|
0 |
0 |
0 |
95
|
MKS1
|
7
|
41
|
44
|
3
|
5
|
0 |
0 |
1
|
95
|
TMEM216
|
6
|
25
|
48
|
12
|
13
|
0 |
0 |
1
|
94
|
AFG3L2
|
21
|
10
|
34
|
11
|
16
|
0 |
0 |
12
|
93
|
LOC126859837, SYNE1
|
4
|
2
|
44
|
34
|
3
|
0 |
0 |
0 |
86
|
ATP1A3
|
8
|
9
|
10
|
11
|
50
|
0 |
0 |
0 |
84
|
PDYN
|
4
|
1
|
52
|
9
|
20
|
0 |
0 |
0 |
83
|
CACNA1G
|
3
|
12
|
53
|
4
|
9
|
0 |
0 |
1
|
82
|
TDP1
|
1
|
1
|
51
|
6
|
23
|
0 |
0 |
0 |
82
|
FGF14
|
12
|
2
|
34
|
13
|
17
|
0 |
0 |
0 |
77
|
FLVCR2
|
0 |
0 |
42
|
5
|
16
|
0 |
0 |
0 |
63
|
VPS13D
|
13
|
11
|
34
|
2
|
1
|
0 |
0 |
1
|
61
|
ESR1, SYNE1
|
0 |
0 |
38
|
15
|
9
|
0 |
0 |
0 |
60
|
CACNA1A, LOC130063717
|
0 |
0 |
33
|
22
|
0 |
0 |
0 |
0 |
55
|
LOC130059818, SPG7
|
8
|
1
|
33
|
13
|
1
|
0 |
0 |
0 |
54
|
ATP8A2
|
12
|
15
|
19
|
1
|
7
|
0 |
0 |
0 |
52
|
SCN2A
|
11
|
9
|
17
|
7
|
6
|
0 |
0 |
1
|
51
|
TPP1
|
12
|
4
|
20
|
7
|
7
|
0 |
0 |
2
|
50
|
WDR81
|
4
|
4
|
24
|
8
|
8
|
0 |
0 |
2
|
49
|
APOB
|
21
|
0 |
26
|
1
|
0 |
0 |
0 |
0 |
48
|
SAMD9L
|
5
|
4
|
35
|
5
|
0 |
0 |
0 |
4
|
47
|
WDR73
|
10
|
11
|
19
|
6
|
3
|
0 |
0 |
0 |
47
|
PNPLA6
|
12
|
10
|
6
|
0 |
13
|
0 |
0 |
7
|
45
|
CACNA1A, LOC126862864
|
6
|
3
|
18
|
16
|
1
|
0 |
0 |
2
|
43
|
DNMT1
|
4
|
4
|
24
|
6
|
6
|
0 |
0 |
1
|
43
|
CCDC88C
|
1
|
3
|
18
|
9
|
8
|
0 |
0 |
1
|
40
|
LOC129997480, SYNE1
|
1
|
0 |
21
|
18
|
2
|
0 |
0 |
0 |
39
|
KIF1C, LOC126862473
|
0 |
1
|
14
|
18
|
5
|
0 |
0 |
0 |
38
|
KIF1C, LOC126862472
|
2
|
1
|
8
|
20
|
6
|
0 |
0 |
0 |
37
|
PNKP
|
8
|
4
|
21
|
4
|
2
|
0 |
0 |
0 |
37
|
SNX14
|
14
|
9
|
12
|
0 |
0 |
0 |
0 |
2
|
36
|
CACNA1A, LOC126862865
|
4
|
2
|
6
|
21
|
3
|
0 |
0 |
0 |
35
|
CACNA1A, LOC126862866
|
4
|
3
|
8
|
19
|
0 |
0 |
0 |
0 |
34
|
PCSK9
|
0 |
0 |
29
|
3
|
0 |
0 |
0 |
0 |
32
|
GRM1
|
9
|
0 |
10
|
7
|
5
|
0 |
0 |
0 |
31
|
LOC126859838, SYNE1
|
2
|
0 |
14
|
16
|
0 |
0 |
0 |
0 |
31
|
ATP2B3
|
1
|
3
|
13
|
2
|
11
|
0 |
0 |
0 |
30
|
KCNC3
|
4
|
2
|
14
|
8
|
4
|
0 |
0 |
0 |
30
|
JMJD8, STUB1
|
11
|
10
|
6
|
1
|
1
|
0 |
0 |
0 |
28
|
FAT2, SLC36A1
|
2
|
0 |
14
|
1
|
11
|
0 |
0 |
0 |
26
|
KCNA1, LOC130007218
|
0 |
0 |
19
|
6
|
1
|
0 |
0 |
0 |
26
|
ABCB7
|
3
|
1
|
11
|
2
|
6
|
0 |
0 |
2
|
24
|
GRID2
|
10
|
3
|
9
|
0 |
2
|
0 |
0 |
0 |
24
|
NKX6-2
|
12
|
9
|
6
|
0 |
1
|
0 |
0 |
8
|
24
|
PUM1
|
4
|
6
|
11
|
0 |
3
|
0 |
0 |
1
|
23
|
CWF19L1
|
9
|
10
|
3
|
0 |
1
|
0 |
0 |
0 |
22
|
PIK3R5
|
1
|
0 |
10
|
0 |
11
|
0 |
0 |
1
|
22
|
RNF168
|
3
|
3
|
6
|
1
|
9
|
0 |
0 |
0 |
22
|
LOC130009366, SACS
|
0 |
5
|
12
|
7
|
1
|
0 |
0 |
0 |
20
|
RFC1
|
10
|
1
|
1
|
0 |
5
|
0 |
0 |
4
|
20
|
STUB1
|
11
|
6
|
7
|
0 |
0 |
0 |
0 |
0 |
20
|
CPLANE1
|
8
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
LOC130059440, TMEM231
|
3
|
1
|
8
|
6
|
1
|
0 |
0 |
0 |
19
|
SCYL1
|
13
|
3
|
3
|
1
|
0 |
0 |
0 |
0 |
19
|
COQ4
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
CEP290, RLIG1
|
3
|
6
|
7
|
0 |
0 |
0 |
0 |
0 |
16
|
FAT2
|
0 |
0 |
2
|
2
|
12
|
0 |
0 |
0 |
16
|
LOC126859836, SYNE1
|
0 |
0 |
7
|
6
|
4
|
0 |
0 |
0 |
16
|
LOC129935417, TMEM237
|
0 |
0 |
10
|
3
|
3
|
0 |
0 |
0 |
16
|
AFG3L2, TUBB6
|
0 |
0 |
11
|
0 |
5
|
0 |
0 |
0 |
15
|
APTX
|
0 |
0 |
10
|
2
|
3
|
0 |
0 |
0 |
15
|
CTDP1
|
1
|
0 |
6
|
2
|
6
|
0 |
0 |
1
|
15
|
ITPR1, LOC126806590
|
3
|
4
|
4
|
0 |
4
|
0 |
0 |
0 |
14
|
LOC126860782, SETX
|
0 |
0 |
4
|
7
|
5
|
0 |
0 |
0 |
14
|
PMPCA
|
4
|
1
|
7
|
0 |
2
|
0 |
0 |
0 |
14
|
RUBCN
|
2
|
1
|
11
|
0 |
0 |
0 |
0 |
0 |
14
|
MME
|
5
|
1
|
4
|
2
|
0 |
0 |
0 |
1
|
13
|
TMEM240
|
6
|
3
|
5
|
0 |
1
|
0 |
0 |
0 |
13
|
EEF2
|
1
|
1
|
7
|
0 |
2
|
0 |
0 |
1
|
12
|
LOC126862019, TDP1
|
0 |
0 |
9
|
1
|
3
|
0 |
0 |
0 |
12
|
SLC9A1
|
2
|
1
|
5
|
1
|
3
|
0 |
0 |
0 |
12
|
ELOVL5
|
2
|
0 |
7
|
1
|
0 |
0 |
0 |
3
|
11
|
LOC126860971, POLR3A
|
1
|
1
|
6
|
0 |
1
|
0 |
0 |
4
|
11
|
MTPAP
|
1
|
1
|
7
|
0 |
2
|
0 |
0 |
0 |
11
|
XRCC1
|
2
|
1
|
4
|
0 |
4
|
0 |
0 |
0 |
11
|
intergenic
|
8
|
1
|
1
|
0 |
1
|
0 |
0 |
0 |
10
|
ATXN2
|
0 |
0 |
3
|
3
|
2
|
0 |
1
|
1
|
10
|
VWA3B
|
1
|
1
|
4
|
0 |
4
|
0 |
0 |
0 |
10
|
ANO10, LOC129936579
|
0 |
0 |
8
|
0 |
1
|
0 |
0 |
0 |
9
|
ARL13B
|
0 |
9
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
CA8
|
2
|
3
|
0 |
0 |
4
|
0 |
0 |
0 |
9
|
CEP104
|
2
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
DNAJC3
|
7
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
9
|
ELOVL4
|
2
|
2
|
3
|
1
|
1
|
0 |
0 |
0 |
9
|
FXN
|
6
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
9
|
INPP5E
|
3
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
PRDX3
|
8
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
9
|
RNF170
|
1
|
2
|
5
|
1
|
0 |
0 |
0 |
0 |
9
|
SACS, SGCG
|
0 |
0 |
0 |
8
|
1
|
0 |
0 |
0 |
9
|
CACNB4, LOC129934925
|
0 |
0 |
4
|
1
|
5
|
0 |
0 |
0 |
8
|
LOC126860970, POLR3A
|
2
|
0 |
4
|
0 |
1
|
0 |
0 |
1
|
8
|
POLR3B
|
1
|
2
|
1
|
1
|
3
|
0 |
0 |
0 |
8
|
ATG7
|
6
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
7
|
ATN1, LOC109461484
|
2
|
0 |
0 |
3
|
2
|
0 |
0 |
0 |
7
|
DYNC1H1, LOC126862060
|
0 |
0 |
4
|
2
|
1
|
0 |
0 |
0 |
7
|
TCTN2
|
2
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
VPS41
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
ATXN10, LOC107181287, LOC108660404
|
4
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
6
|
CACNA1A, LOC108663985
|
1
|
0 |
0 |
2
|
3
|
0 |
0 |
0 |
6
|
CAMTA1, LOC126805603
|
1
|
0 |
3
|
1
|
0 |
0 |
0 |
1
|
6
|
DAB1
|
1
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
6
|
DNMT1, LOC126862853
|
0 |
2
|
2
|
2
|
0 |
0 |
0 |
0 |
6
|
DYNC1H1, LOC125078040
|
0 |
0 |
3
|
1
|
2
|
0 |
0 |
0 |
6
|
FAT1
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
0 |
6
|
LOC126807124, MTTP
|
0 |
1
|
4
|
1
|
2
|
0 |
0 |
0 |
6
|
LOC126860792, PMPCA
|
2
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
6
|
MARS2
|
2
|
0 |
3
|
0 |
1
|
0 |
0 |
0 |
6
|
NPHP3, NPHP3-ACAD11
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
NPHP3-ACAD11, UBA5
|
3
|
2
|
0 |
0 |
1
|
0 |
0 |
0 |
6
|
TAPBPL, VAMP1
|
1
|
2
|
0 |
0 |
3
|
0 |
0 |
0 |
6
|
TDP2
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
TRPC3
|
2
|
0 |
3
|
0 |
1
|
0 |
0 |
0 |
6
|
ATXN1, LOC108663993
|
1
|
0 |
0 |
2
|
2
|
0 |
0 |
0 |
5
|
ATXN7
|
1
|
0 |
3
|
0 |
1
|
0 |
0 |
0 |
5
|
B9D2
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
FLVCR1, LOC129932486
|
0 |
0 |
4
|
0 |
1
|
0 |
0 |
0 |
5
|
HARS1
|
4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
5
|
KIF14
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
LOC108663996, TBP
|
2
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
5
|
LOC129994751, SIL1
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
0 |
5
|
LOC130061271, MKS1
|
0 |
3
|
1
|
1
|
0 |
0 |
0 |
0 |
5
|
PITRM1
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
5
|
PNPT1
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
5
|
STXBP1
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
TCTN1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
WFS1
|
0 |
3
|
2
|
0 |
0 |
0 |
0 |
0 |
5
|
ZNF592
|
0 |
0 |
3
|
0 |
2
|
0 |
0 |
0 |
5
|
ATP1A3, LOC130064543
|
0 |
0 |
3
|
0 |
1
|
0 |
0 |
0 |
4
|
ATXN1
|
0 |
0 |
2
|
1
|
1
|
0 |
0 |
0 |
4
|
ATXN10
|
0 |
0 |
3
|
1
|
0 |
0 |
0 |
0 |
4
|
ATXN3, LOC108663987
|
2
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
4
|
COA7
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
FMR1
|
1
|
1
|
0 |
0 |
2
|
0 |
0 |
0 |
4
|
FXN, LOC130001862
|
2
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
4
|
GLRX5
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
ITPR1, LOC129936059
|
0 |
0 |
3
|
0 |
1
|
0 |
0 |
0 |
4
|
KIF26B
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
4
|
LOC126860783, SETX
|
0 |
0 |
3
|
0 |
1
|
0 |
0 |
0 |
4
|
NPTX1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PLD3, PRX
|
3
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
4
|
SYT14
|
1
|
0 |
1
|
1
|
2
|
0 |
0 |
0 |
4
|
ATN1
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
ATXN2, LOC130008792
|
0 |
0 |
1
|
0 |
2
|
0 |
0 |
0 |
3
|
ATXN7, LOC108660406, LOC129936979
|
1
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
3
|
CEP290, LOC129390514
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
3
|
COA7, LOC129388524
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GDAP2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
HPDL
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
KCNC3, LOC111811967
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
LOC109504727, LOC130065308, NOP56
|
2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
3
|
LOC126806306, NPHP1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
LOC130001468, VLDLR
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
LOC130059035, RPGRIP1L
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
LYST
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
NOP56
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
PLD3
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
PMM2
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ABCB7, LOC130068449
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
APOB, APOB3'MAR
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ATM
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ATXN2, LOC130008791
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
0 |
2
|
B9D1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CHUK-DT, CWF19L1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
COQ8A, LOC129932681
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
DARS2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EEF2, LOC130063169
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ERCC4
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FGF14, ITGBL1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
FXN, LOC108510657
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GALC
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
IFT140
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
JMJD8, RHBDL1, STUB1, WDR24
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
KCNN2, LOC101927078
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC112486209, LOC132090435, WWOX
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC129937586, NPHP3, NPHP3-ACAD11
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC129995144, THG1L
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC130003010, PMPCA
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC130004143, POLR3A, RPS24
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
1
|
2
|
LOC130004408, TCTN3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MT-ATP6
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MTCL1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
NCDN
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
NPC1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PDE1B
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
PEX6
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PLA2G6
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PPP2R2B
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
SCN8A
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
SEPSECS
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SURF1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TCTN3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
THG1L
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
AADACL3, AADACL4, CFAP107, DHRS3, MFN2, MIIP, PLOD1, PRAMEF1, PRAMEF11, PRAMEF12, TNFRSF1B, TNFRSF8, VPS13D
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AGPAT5, ANGPT2, ARHGEF10, BLK, C8orf74, CLDN23, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERI1, ERICH1, FAM167A, FBXO25, KBTBD11, MCPH1, MFHAS1, MIR124-1, MSRA, MTMR9, MYOM2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, SPAG11A, SPAG11B, TDRP, TNKS, USP17L1, USP17L3, USP17L4, USP17L8, XKR5, XKR6, ZNF596, ZNF705B, ZNF705G
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AHDC1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AHNAK2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AKAP3, ANO2, C12orf4, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1, VWF
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AKAP3, C12orf4, CCND2, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, RAD51AP1, TIGAR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALS2, MPP4, TMEM237
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AMACR, C1QTNF3-AMACR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AMPD2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARFGEF1, CPA6, CSPP1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARSA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATG5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATG7, LOC126806603
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATM, C11orf65
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATP1A2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATP1A2, IGSF8, KCNJ10, KCNJ9
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATP6V0A1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATP7B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATXN10, LOC130067689
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATXN2, LOC130008791, LOC130008792
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
ATXN3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
ATXN8, ATXN8OS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATXN8, ATXN8OS, LOC109461478
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BEAN1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C19orf12
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C2CD6, MPP4, STRADB, TMEM237
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C2CD6, TMEM237
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A, LOC111365163, LOC112543459
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A, LOC112543459
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A, LOC121852980, LOC126862864, LOC126862865, LOC129391066, LOC130063718, LOC130063719, LOC130063720, LOC130063721
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CAPRIN1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CAV3, OXTR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CCDC88C, LOC130056326
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDH1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CEP104, LOC126805586
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHP1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHST5, CHST6, TMEM170A, TMEM231
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHST5, CHST6, TMEM231
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CIZ1, DNM1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CLCN2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CLEC3A, VAT1L, WWOX
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CLN6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
COPS5, CSPP1, PPP1R42
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COQ8A, LOC129932682
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
0 |
1
|
CSMD1, LOC105377785
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSNK1E, TPTEP2-CSNK1E
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CYP27A1, PRKAG3, WNT6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYP7B1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DAGLA, MYRF
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAJC6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DYNC1H1, LOC130056502
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EGOT, ITPR1, ITPR1-DT, LOC112935932, LOC122889020, LOC122889021, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ELF2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ENG
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EP300
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EXOSC8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FA2H
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FAT1, LOC126807255
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FAT2, LOC132089193, SLC36A1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FGF14, LOC124946331, MIR2681
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FLNC
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FLVCR1, LOC129932485
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FMR1, FRAXA, LOC107032825, LOC129929053
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FMR1, LOC107032825
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FZR1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GBA2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GJA3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GJB1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GJC2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GLB1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GRM1, LOC126859821
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
IFT140, LOC105371046
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IFT140, LOC126862260
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, LOC121725127, LOC122889019, LOC122889020, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, SETMAR, SUMF1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KCNA1, KCNA5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCNA6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KCNC3, LOC130064972
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCNMA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCNN2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIF1A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIF7
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
L1CAM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LAMA4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC108660405, PPP2R2B
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC113174982, TDP2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC125446261, MLC1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126805680, PUM1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126806082, SMYD3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126806462, SATB2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC129935364, MARS2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC129935366, MARS2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130001471, VLDLR
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130003597, MTPAP
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC132090432, LOC132090433, LOC132090434, WWOX
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LRCH2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LRRCC1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAFA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MALL, NPHP1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MCOLN1, PNPLA6
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MFN2
|
0 |
1
|
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
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MT-CO3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MT-CYB
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MT-TE
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NAGLU
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NID1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NPHP3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OBI1, POU4F1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
OFD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OPA1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PCDH12, RNF14
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PEX10
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PKD2
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PLEKHG4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
POMT1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PPT1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PRDM16
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PTRH2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RNU12
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RPE65
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RPGRIP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SEPTIN11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SLC25A46
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SLC2A1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SMAD6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SOS1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SPART
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SPAST
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SPG11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SPTAN1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SYNE2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SYNGAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TANGO2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TBP
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TLN1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TUBB3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UNC13A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
VPS39
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ZFHX3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ZNF236
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
risk factor |
not provided |
total |
Invitae
|
814
|
198
|
6608
|
5886
|
1021
|
0 |
0 |
0 |
14527
|
Illumina Laboratory Services, Illumina
|
8
|
7
|
3101
|
564
|
983
|
0 |
0 |
0 |
4617
|
Fulgent Genetics, Fulgent Genetics
|
155
|
103
|
734
|
343
|
24
|
0 |
0 |
0 |
1359
|
Genome-Nilou Lab
|
39
|
40
|
248
|
171
|
519
|
0 |
0 |
0 |
1017
|
Baylor Genetics
|
163
|
277
|
290
|
0 |
0 |
0 |
0 |
0 |
729
|
Natera, Inc.
|
58
|
8
|
373
|
125
|
74
|
0 |
0 |
0 |
638
|
OMIM
|
572
|
1
|
6
|
0 |
4
|
0 |
1
|
0 |
584
|
Counsyl
|
16
|
270
|
127
|
11
|
2
|
0 |
0 |
0 |
426
|
Revvity Omics, Revvity
|
48
|
47
|
213
|
0 |
0 |
0 |
0 |
0 |
308
|
GeneReviews
|
86
|
0 |
0 |
0 |
8
|
0 |
0 |
188
|
282
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
120
|
153
|
0 |
0 |
0 |
0 |
0 |
0 |
273
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
85
|
71
|
25
|
1
|
5
|
0 |
0 |
0 |
187
|
UW Hindbrain Malformation Research Program, University of Washington
|
132
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
135
|
Myriad Genetics, Inc.
|
10
|
111
|
1
|
0 |
0 |
0 |
0 |
0 |
122
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
26
|
21
|
64
|
4
|
3
|
0 |
0 |
0 |
118
|
3billion
|
44
|
38
|
34
|
0 |
0 |
0 |
0 |
0 |
116
|
Mendelics
|
37
|
26
|
14
|
9
|
22
|
0 |
0 |
0 |
108
|
New York Genome Center
|
7
|
4
|
96
|
0 |
0 |
0 |
0 |
0 |
107
|
Institute of Human Genetics, University of Leipzig Medical Center
|
23
|
20
|
49
|
4
|
2
|
0 |
0 |
0 |
98
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
15
|
34
|
33
|
0 |
5
|
0 |
0 |
0 |
87
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
19
|
6
|
52
|
3
|
2
|
0 |
0 |
0 |
82
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
3
|
0 |
4
|
14
|
61
|
0 |
0 |
0 |
82
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
10
|
17
|
55
|
0 |
0 |
0 |
0 |
0 |
82
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
3
|
1
|
4
|
22
|
49
|
0 |
0 |
0 |
79
|
Paris Brain Institute, Inserm - ICM
|
68
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
68
|
Genetic Services Laboratory, University of Chicago
|
42
|
25
|
0 |
0 |
0 |
0 |
0 |
0 |
67
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
22
|
10
|
33
|
2
|
0 |
0 |
0 |
0 |
67
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
45
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
66
|
O&I group, Department of Genetics, University Medical Center of Groningen
|
15
|
9
|
34
|
0 |
0 |
0 |
0 |
0 |
58
|
MGZ Medical Genetics Center
|
11
|
18
|
27
|
0 |
0 |
0 |
0 |
0 |
56
|
Centogene AG - the Rare Disease Company
|
11
|
9
|
23
|
1
|
0 |
0 |
0 |
0 |
44
|
Genomics England Pilot Project, Genomics England
|
15
|
26
|
1
|
0 |
0 |
0 |
0 |
0 |
42
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
40
|
40
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
3
|
33
|
4
|
0 |
0 |
0 |
0 |
39
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
0 |
16
|
1
|
16
|
0 |
0 |
0 |
35
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
15
|
7
|
10
|
1
|
1
|
0 |
0 |
0 |
34
|
Wendy Chung Laboratory, Columbia University Medical Center
|
13
|
20
|
0 |
0 |
0 |
0 |
0 |
0 |
33
|
Genetics and Molecular Pathology, SA Pathology
|
12
|
11
|
7
|
0 |
0 |
0 |
0 |
0 |
30
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
14
|
6
|
7
|
0 |
0 |
0 |
0 |
0 |
27
|
Molecular Genetics, Royal Melbourne Hospital
|
3
|
4
|
17
|
0 |
2
|
0 |
0 |
0 |
26
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
5
|
5
|
16
|
0 |
0 |
0 |
0 |
0 |
26
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
0 |
7
|
16
|
0 |
0 |
0 |
25
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
24
|
24
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
6
|
5
|
12
|
0 |
0 |
0 |
0 |
0 |
23
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
22
|
22
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
8
|
4
|
10
|
0 |
0 |
0 |
0 |
0 |
22
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
9
|
11
|
2
|
0 |
0 |
0 |
0 |
0 |
22
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
5
|
10
|
7
|
0 |
0 |
0 |
0 |
0 |
22
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
11
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
18
|
Undiagnosed Diseases Network, NIH
|
8
|
6
|
4
|
0 |
0 |
0 |
0 |
0 |
18
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
7
|
10
|
0 |
0 |
0 |
0 |
0 |
18
|
Institute of Human Genetics, University of Goettingen
|
2
|
4
|
10
|
1
|
0 |
0 |
0 |
0 |
17
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
6
|
10
|
1
|
0 |
0 |
0 |
0 |
0 |
17
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
5
|
10
|
0 |
0 |
0 |
0 |
0 |
17
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
4
|
6
|
5
|
0 |
0 |
0 |
0 |
0 |
15
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
7
|
3
|
4
|
0 |
0 |
0 |
15
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
10
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
15
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
14
|
0 |
0 |
0 |
14
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
12
|
0 |
0 |
0 |
0 |
0 |
14
|
UCLA Clinical Genomics Center, UCLA
|
0 |
14
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
7
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
3
|
10
|
0 |
0 |
0 |
0 |
0 |
13
|
Yale Center for Mendelian Genomics, Yale University
|
8
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
13
|
0 |
0 |
0 |
0 |
0 |
13
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
13
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
5
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
3
|
7
|
0 |
0 |
0 |
0 |
0 |
12
|
SIB Swiss Institute of Bioinformatics
|
0 |
6
|
4
|
0 |
2
|
0 |
0 |
0 |
12
|
Schule lab, Hertie Institute for Clinical Brain Research
|
5
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
12
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
5
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
12
|
Medical Genetics Laboratory, Tarbiat Modares University
|
9
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
12
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
2
|
5
|
0 |
4
|
0 |
0 |
0 |
0 |
11
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
4
|
5
|
1
|
1
|
0 |
0 |
0 |
0 |
11
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
9
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
6
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
11
|
Pars Genome Lab
|
1
|
0 |
2
|
6
|
2
|
0 |
0 |
0 |
11
|
Suma Genomics
|
3
|
2
|
5
|
1
|
0 |
0 |
0 |
0 |
11
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
6
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
10
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
6
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
5
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
1
|
6
|
0 |
0 |
0 |
0 |
0 |
9
|
MyeliNeuroGene Lab, McGill University Health Center Research Institute
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Neurogenetics of motion laboratory, Montreal Neurological Institute
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
3
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
8
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
3
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
5
|
3
|
0 |
0 |
0 |
8
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
5
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
3
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
8
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
3
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
8
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
5
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
4
|
3
|
0 |
0 |
0 |
0 |
0 |
7
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
7
|
DASA
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Institute of Human Genetics, Cologne University
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
4
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
2
|
0 |
4
|
0 |
1
|
0 |
0 |
0 |
6
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
3
|
3
|
0 |
0 |
0 |
0 |
0 |
6
|
Codex Genetics Limited
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Department of Biochemistry, Faculty of Medicine, University of Khartoum
|
3
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
1
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
6
|
Lifecell International Pvt. Ltd
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
6
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Hadassah Hebrew University Medical Center
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
5
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
4
|
0 |
0 |
0 |
0 |
0 |
5
|
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Breda Genetics srl
|
2
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
5
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
3
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
5
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Research Group Niklas Dahl, Uppsala University
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Taipei Veterans General Hospital, Neurological Institute
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genomic Diagnostics Laboratory, National Institute of Medical Genomics
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Department of Human Genetics, Hannover Medical School
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Neurogenetics Research; Murdoch Childrens Research Institute
|
3
|
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 |
3
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
TIDEX, University of British Columbia
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genomic Medicine Lab, University of California San Francisco
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute for Human Genetics, University Hospital Essen
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Section for Clinical Neurogenetics, University of Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Hospital Muenster
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Molecular Genetics Lab, CHRU Brest
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CMT Laboratory, Bogazici University
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
King Laboratory, University of Washington
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Ulm
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Gene Discovery Core-Manton Center, Boston Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Bruce Lefroy Centre, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Applied Translational Genetics Group, University of Auckland
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Reproductive Development, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
HSP Biomedical Diagnostics Department, Hospital San Pedro
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Human Genetics Laboratory, Faculty of Medicine of Tunis
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, University of Torino
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Heidelberg University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Diseases Diagnostic Center, Koc University Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Bioinformatics
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
University of Iowa Renal Genetics Clinic, University of Iowa
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genome Medicine, Institute for Basic Research in Developmental Disabilities
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Program, Stanford Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Biology Laboratory, Fundació Puigvert
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Pediatric Department, Xiangya Hospital, Central South University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Joe DiMaggio Children's Hospital, Memorial Healthcare System
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics of Human Eye Development, Oxford Brookes University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Movement Disorders Program, Boston Children's Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Pangenia Genomics, Pangenia Inc.
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Tetreault Lab, University of Montreal Hospital Research Centre (CRCHUM)
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
State Key Lab of Medical Genetics, Central South University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Molecular and Human Genetics, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Translational Omics - GOSgene, University College London
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Experimental Medicine, Department of Genetics, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Care4Rare-SOLVE, CHEO
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Medical Genetics, Faculty Of Medicine, Ege University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
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 |
1
|
Manipal Hospitals, Manipal Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Wangler Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Genomics, Kyushu university
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics of Cognitive Dysfunction Laboratory, I3S-IBMC, University of Porto
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Institute of Bioregulation, Kyushu university
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
University of Uludag Hospital, Genetic Diseases Diagnostic Center, University of Uludag
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Tehran Medical Genetics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IRCCS Fondazione Stella Maris, University of Pisa
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics, Amsterdam Medical Centre
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neurology Laboratory, National Cheng Kung University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Genomic Medicine, Catholic University
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Medicine, University of Pavia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Fundacion Diagnosis
|
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 |
1
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics, MediClubGeorgia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
School of Computer Science, University of Waterloo
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Bioinformatics Unit, Institut Pasteur de Montevideo
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neurology Department, Shenzhen Children's Hospital
|
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 |
1
|
Credence Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Angen Gene Medicine Technology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetique et Genetique Moleculaire, CHU Besancon
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, CHRU Nancy
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of genome editing, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics, Synlab MVZ Humangenetik Freiburg
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Rehabilitation Medicine, Chungnam National University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DECIPHERD-UDD, Universidad del Desarrollo
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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