If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
58
|
85
|
1927
|
1918
|
324
|
4309
|
Gene and significance breakdown #
Total genes and gene combinations: 73
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
FASN
|
0 |
0 |
912
|
971
|
115
|
1998
|
RYR3
|
0 |
0 |
669
|
441
|
128
|
1237
|
GABBR2
|
2
|
2
|
244
|
414
|
65
|
727
|
AVEN, RYR3
|
0 |
0 |
34
|
40
|
9
|
83
|
FASN, LOC129390948
|
0 |
0 |
26
|
16
|
4
|
46
|
GABBR2, LOC126860700
|
0 |
0 |
9
|
22
|
3
|
34
|
UGDH
|
1
|
23
|
0 |
0 |
0 |
23
|
AVEN, LOC126862094, RYR3
|
0 |
0 |
13
|
9
|
0 |
22
|
KCNB1
|
13
|
6
|
0 |
0 |
0 |
19
|
STXBP1
|
7
|
3
|
0 |
0 |
0 |
10
|
KCNQ2
|
4
|
5
|
0 |
0 |
0 |
9
|
SCN2A
|
2
|
6
|
0 |
0 |
0 |
8
|
SCN8A
|
2
|
4
|
1
|
0 |
0 |
7
|
CDKL5
|
4
|
1
|
0 |
0 |
0 |
5
|
LOC102724058, SCN1A
|
2
|
3
|
0 |
0 |
0 |
5
|
GABRB3
|
0 |
3
|
1
|
0 |
0 |
4
|
HNRNPU
|
4
|
0 |
0 |
0 |
0 |
4
|
MAPK10
|
0 |
0 |
1
|
2
|
0 |
3
|
AP3B2, CPEB1
|
0 |
2
|
0 |
0 |
0 |
2
|
ATP7B
|
0 |
1
|
1
|
0 |
0 |
2
|
GRIN2A
|
0 |
0 |
2
|
0 |
0 |
2
|
HCN1
|
0 |
2
|
0 |
0 |
0 |
2
|
KCTD7
|
0 |
2
|
0 |
0 |
0 |
2
|
LARP7
|
2
|
0 |
0 |
0 |
0 |
2
|
SCN1A
|
2
|
0 |
0 |
0 |
0 |
2
|
SLC13A5
|
0 |
2
|
0 |
0 |
0 |
2
|
USP19
|
2
|
0 |
0 |
0 |
0 |
2
|
WWOX
|
0 |
2
|
0 |
0 |
0 |
2
|
ALG13
|
0 |
0 |
1
|
0 |
0 |
1
|
ANKS6, ANP32B, CORO2A, FOXE1, GABBR2, HEMGN, NANS, NCBP1, TBC1D2, TDRD7, TMOD1, TRIM14, TRMO, TSTD2, XPA
|
0 |
0 |
1
|
0 |
0 |
1
|
ANKS6, GABBR2, GALNT12
|
0 |
0 |
0 |
1
|
0 |
1
|
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A
|
1
|
0 |
0 |
0 |
0 |
1
|
ATP1A2
|
0 |
0 |
1
|
0 |
0 |
1
|
ATP1A3
|
0 |
1
|
0 |
0 |
0 |
1
|
AVEN, LOC126862094, LOC126862095, LOC132090300, RYR3
|
0 |
0 |
1
|
0 |
0 |
1
|
AVEN, RYR3, RYR3-DT
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1A
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA2D2
|
0 |
1
|
0 |
0 |
0 |
1
|
CDKL5, RS1
|
0 |
0 |
1
|
0 |
0 |
1
|
CYFIP1, NIPA1, NIPA2, TUBGCP5
|
1
|
0 |
0 |
0 |
0 |
1
|
DEPDC5
|
0 |
0 |
1
|
0 |
0 |
1
|
EPHA4
|
0 |
0 |
1
|
0 |
0 |
1
|
FOLR1
|
0 |
1
|
0 |
0 |
0 |
1
|
GABRA1
|
0 |
1
|
0 |
0 |
0 |
1
|
GABRD
|
0 |
0 |
1
|
0 |
0 |
1
|
GNAO1
|
1
|
1
|
0 |
0 |
0 |
1
|
GRIA3
|
0 |
1
|
0 |
0 |
0 |
1
|
GRIN2B
|
0 |
0 |
1
|
0 |
0 |
1
|
IDUA, SLC26A1
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNA1
|
0 |
1
|
0 |
0 |
0 |
1
|
KCNT1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC114827831, STXBP1
|
1
|
0 |
0 |
0 |
0 |
1
|
MECP2
|
1
|
0 |
0 |
0 |
0 |
1
|
MEF2C
|
0 |
1
|
0 |
0 |
0 |
1
|
MTRFR
|
0 |
1
|
0 |
0 |
0 |
1
|
PCDH19
|
0 |
1
|
0 |
0 |
0 |
1
|
PIGA
|
0 |
1
|
0 |
0 |
0 |
1
|
PNKP
|
0 |
0 |
0 |
1
|
0 |
1
|
PPP3CA
|
1
|
0 |
0 |
0 |
0 |
1
|
PRMT7
|
0 |
1
|
0 |
0 |
0 |
1
|
PTEN
|
0 |
0 |
1
|
0 |
0 |
1
|
PURA
|
0 |
1
|
0 |
0 |
0 |
1
|
SCN1B
|
0 |
1
|
0 |
0 |
0 |
1
|
SIK1
|
0 |
0 |
0 |
1
|
0 |
1
|
SLC35A2
|
0 |
1
|
0 |
0 |
0 |
1
|
SMC1A
|
1
|
0 |
0 |
0 |
0 |
1
|
SNHG14, UBE3A
|
1
|
0 |
0 |
0 |
0 |
1
|
SPTAN1
|
1
|
0 |
0 |
0 |
0 |
1
|
STX1B
|
0 |
1
|
0 |
0 |
0 |
1
|
SYNGAP1
|
0 |
1
|
0 |
0 |
0 |
1
|
TNK2
|
1
|
0 |
0 |
0 |
0 |
1
|
TRIT1
|
0 |
1
|
0 |
0 |
0 |
1
|
WASF1
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
2
|
2
|
1909
|
1914
|
324
|
4151
|
Neurogenetics Laboratory - MEYER, AOU Meyer
|
20
|
15
|
9
|
0 |
0 |
44
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
23
|
0 |
0 |
0 |
23
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
5
|
14
|
0 |
0 |
0 |
19
|
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades
|
13
|
6
|
0 |
0 |
0 |
19
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
3
|
10
|
3
|
0 |
0 |
16
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
7
|
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
4
|
2
|
0 |
0 |
6
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
2
|
3
|
0 |
1
|
0 |
6
|
Baylor Genetics
|
4
|
0 |
1
|
0 |
0 |
5
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
3
|
0 |
0 |
0 |
5
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
3
|
0 |
4
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
1
|
0 |
0 |
0 |
3
|
Laboratory of Molecular Genetics, CHU RENNES
|
0 |
2
|
0 |
0 |
0 |
2
|
Medical Genetics Laboratory, CHRU Nancy
|
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
1
|
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