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 |
risk factor |
other |
total |
36
|
33
|
171
|
120
|
20
|
7
|
1
|
373
|
Gene and significance breakdown #
Total genes and gene combinations: 61
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
other |
total |
GAD1
|
1
|
2
|
83
|
85
|
15
|
0 |
0 |
174
|
KANK1
|
0 |
0 |
62
|
33
|
3
|
0 |
0 |
98
|
HPDL
|
12
|
4
|
3
|
1
|
0 |
0 |
0 |
19
|
GAD1, LOC132088794
|
0 |
0 |
5
|
1
|
2
|
0 |
0 |
8
|
ADD3
|
3
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
COL4A2
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
KANK1, LOC126860554
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
SPAST
|
1
|
1
|
0 |
0 |
0 |
0 |
1
|
3
|
intergenic
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
COL4A1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
F2
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
2
|
GAD1, LOC129935083
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
PMM2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TUBA1A
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
TUBB4A
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ALDH3A2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARFGEF1-DT, CPA6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARHGAP31
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ASTN2, TRIM32
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ATP10A, CYFIP1, GOLGA6L1, GOLGA6L2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
BRCA2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BUB1B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CACNA1A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1C
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CC2D1A, LOC129391070
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CLCN1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CLCN2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EGFR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
F8
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
FBXO31
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GALC
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GNB1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GPHN, PALS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GRIN2B
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HPDL, LOC129930439
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HPDL, LOC129930440
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HTT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IDH3G
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ISCA2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KANK1, LOC124210605, LOC126860553, LOC126860554, LOC129390062
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIDINS220
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KLHL3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MFN2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MT-TL1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NECTIN2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NKX2-6
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PDGFRB
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PIEZO2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PROC
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RNASEH2B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SAMHD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SETX
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SYNE2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TARS2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TTN
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ZDHHC15
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
other |
total |
Invitae
|
1
|
1
|
45
|
82
|
8
|
0 |
0 |
137
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
53
|
33
|
2
|
0 |
0 |
88
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
4
|
13
|
0 |
0 |
63
|
Neurogenetics Research Program, University of Adelaide
|
11
|
18
|
6
|
0 |
0 |
7
|
1
|
43
|
OMIM
|
16
|
0 |
1
|
0 |
0 |
0 |
0 |
17
|
Baylor Genetics
|
1
|
1
|
8
|
0 |
0 |
0 |
0 |
10
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Centre of Medical Genetics, University of Antwerp
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kruer lab, Phoenix Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Gene Discovery Core-Manton Center, Boston Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TIDEX, University of British Columbia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre de recherche CHU de Quebec-Universite Laval, Laval University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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