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 |
not provided |
total |
114
|
84
|
1896
|
839
|
325
|
7
|
3200
|
Gene and significance breakdown #
Total genes and gene combinations: 103
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GJB1
|
17
|
6
|
353
|
10
|
4
|
0 |
377
|
MFN2
|
7
|
5
|
173
|
35
|
11
|
0 |
225
|
SH3TC2
|
12
|
6
|
123
|
54
|
14
|
0 |
203
|
PRX
|
5
|
3
|
115
|
62
|
16
|
0 |
200
|
MPZ
|
18
|
9
|
163
|
7
|
2
|
0 |
192
|
DYNC1H1
|
0 |
2
|
30
|
105
|
44
|
1
|
181
|
IGHMBP2
|
1
|
3
|
71
|
45
|
27
|
0 |
146
|
TRPV4
|
3
|
2
|
48
|
47
|
23
|
0 |
122
|
KIF1B
|
0 |
1
|
45
|
41
|
30
|
0 |
116
|
FIG4
|
3
|
0 |
40
|
37
|
15
|
0 |
94
|
PMP22
|
6
|
7
|
62
|
9
|
2
|
0 |
84
|
GDAP1
|
5
|
3
|
57
|
9
|
4
|
6
|
76
|
LRSAM1
|
2
|
6
|
31
|
27
|
11
|
0 |
76
|
SBF2
|
0 |
1
|
35
|
30
|
8
|
0 |
74
|
GARS1
|
2
|
1
|
26
|
29
|
13
|
0 |
70
|
MED25
|
0 |
1
|
19
|
39
|
11
|
0 |
70
|
MARS1
|
0 |
0 |
28
|
25
|
8
|
0 |
61
|
LMNA
|
2
|
3
|
23
|
26
|
7
|
0 |
60
|
NEFL
|
5
|
4
|
32
|
15
|
3
|
0 |
58
|
FGD4
|
0 |
0 |
21
|
16
|
12
|
0 |
49
|
HSPB1
|
8
|
1
|
29
|
13
|
2
|
0 |
49
|
MTMR2
|
0 |
0 |
24
|
17
|
8
|
0 |
49
|
NDRG1
|
1
|
0 |
18
|
20
|
3
|
0 |
42
|
SPTLC1
|
2
|
0 |
20
|
9
|
7
|
0 |
37
|
AARS1
|
1
|
0 |
31
|
0 |
0 |
0 |
32
|
LITAF
|
2
|
2
|
22
|
5
|
4
|
0 |
32
|
EGR2
|
0 |
0 |
16
|
14
|
1
|
0 |
30
|
NTRK1
|
0 |
0 |
29
|
1
|
0 |
0 |
30
|
TTR
|
5
|
2
|
7
|
10
|
5
|
0 |
29
|
DNAJB2
|
0 |
0 |
7
|
14
|
3
|
0 |
24
|
LOC101928008, SBF2
|
0 |
0 |
7
|
8
|
6
|
0 |
21
|
LOC105369149, SBF2
|
0 |
0 |
6
|
12
|
2
|
0 |
20
|
AIFM1, RAB33A
|
0 |
0 |
4
|
8
|
6
|
0 |
18
|
INF2
|
0 |
0 |
17
|
0 |
0 |
0 |
17
|
SEPTIN9
|
0 |
0 |
16
|
0 |
0 |
0 |
16
|
RAB7A
|
0 |
0 |
7
|
6
|
2
|
0 |
15
|
GDAP1, LOC130000622
|
2
|
1
|
5
|
4
|
1
|
0 |
13
|
IGHMBP2, LOC126861245
|
0 |
0 |
3
|
5
|
2
|
0 |
10
|
LOC130064454, PRX
|
3
|
2
|
5
|
0 |
0 |
0 |
10
|
PDK3
|
0 |
0 |
4
|
5
|
1
|
0 |
10
|
DNM2
|
0 |
2
|
7
|
0 |
0 |
0 |
9
|
LOC126860531, NDRG1
|
0 |
0 |
2
|
5
|
2
|
0 |
9
|
MORC2
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
SCN11A
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
SETX
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
SLC12A6
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
DYNC1H1, LOC126862060
|
0 |
0 |
1
|
4
|
1
|
0 |
6
|
WNK1
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
DCTN1
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
DNMT1
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
GAN
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
HINT1
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
HSPB8
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
KIF1B, LOC126805614
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
LOC126860330, NEFL
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
RETREG1
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
ARHGEF10
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
ELP1
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
NGF
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
REEP1
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
ARF1, LOC126806039
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ATL1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ATP7A
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
BICD2
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
BSCL2, HNRNPUL2-BSCL2
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
DST
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
KARS1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
KIF1B, LOC129388446
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
LMNA, LOC126805877
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
LMNA, LOC129931597
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
LOC129929426, MFN2
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
MIR6841, NEFL
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
PLD3, PRX
|
0 |
1
|
2
|
0 |
1
|
0 |
2
|
POLR2F, SOX10
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
SCN1A, SCN9A
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
YARS1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
AIFM1, LOC130068679, RAB33A
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
ARHGEF10, LOC126860281
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CNTNAP2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CTDP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DCTN2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DHX9
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FBXO38
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GAN, LOC130059498
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HADHB
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IFRD1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KIF1B, LOC129388447
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LAMA2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC112872299, RAB7A
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC126862651, SEPTIN9
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129390683, SLC12A6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129993734, RETREG1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MED25, MIR6800
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MPZ, SDHC
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MT-ATP6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MYH14
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
POLG, POLGARF
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SBF1
|
0 |
1
|
1
|
0 |
0 |
0 |
1
|
SEMA5A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SLC25A46
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SLC5A7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SPTLC2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TFG
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Molecular Genetics Laboratory, London Health Sciences Centre
|
62
|
57
|
642
|
833
|
320
|
0 |
1914
|
Inherited Neuropathy Consortium
|
45
|
18
|
1049
|
4
|
1
|
0 |
1117
|
Genesis Genome Database
|
0 |
0 |
207
|
0 |
0 |
0 |
207
|
Natera, Inc.
|
5
|
0 |
18
|
5
|
3
|
0 |
31
|
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust
|
4
|
6
|
17
|
0 |
1
|
0 |
27
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
6
|
7
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Human Genetics, University Hospital Magdeburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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