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 |
association |
likely risk allele |
not provided |
total |
38
|
25
|
168
|
14
|
18
|
2
|
3
|
2
|
267
|
Gene and significance breakdown #
Total genes and gene combinations: 80
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely risk allele |
not provided |
total |
SLITRK1
|
2
|
0 |
92
|
9
|
0 |
0 |
0 |
2
|
103
|
AP4E1
|
1
|
1
|
6
|
1
|
18
|
0 |
0 |
0 |
26
|
intergenic
|
6
|
3
|
12
|
0 |
0 |
0 |
0 |
0 |
21
|
DRD4
|
0 |
1
|
15
|
0 |
0 |
0 |
0 |
0 |
16
|
ADGRL1
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
HDC
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
5
|
BAIAP2
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
CELSR3
|
0 |
0 |
1
|
0 |
0 |
0 |
3
|
0 |
4
|
TM4SF20
|
1
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
4
|
MECP2
|
2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
3
|
CDH2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
CRY1
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
DRD5, SLC2A9
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
FAT1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
NAGPA
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
TBR1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AADAC, AADACL2, AGTR1, ANKUB1, ARHGEF26, C3orf33, CCNL1, CHST2, CLRN1, COMMD2, CP, CPA3, CPB1, DHX36, DIPK2A, EIF2A, ERICH6, GMPS, GPR149, GPR171, GPR87, GYG1, HLTF, HPS3, IGSF10, KCNAB1, LEKR1, LINC02877, MBNL1, MED12L, MINDY4B, MME, P2RY1, P2RY12, P2RY13, P2RY14, PFN2, PLCH1, PLOD2, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PTX3, RAP2B, RNF13, RSRC1, SELENOT, SERP1, SHOX2, SIAH2, SLC33A1, SLC9A9, SSR3, SUCNR1, TIPARP, TM4SF1, TM4SF18, TM4SF4, TSC22D2, U2SURP, VEPH1, WWTR1, ZIC1, ZIC4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, C3orf70, CAMK2N2, CHRD, CLCN2, DVL3, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EIF2B5, EIF2B5-DT, EIF4G1, EPHB3, FAM131A, HTR3C, HTR3D, HTR3E, IGF2BP2, KLHL24, KLHL6, LAMP3, LINC01839, LINC01840, LINC02054, LINC02069, LIPH, LOC107986163, LOC112935913, LOC121048724, LOC121048725, LOC121725166, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC123464473, LOC123464474, LOC126806886, LOC126806887, LOC126806888, LOC126806889, LOC126806890, LOC126806891, LOC126806892, LOC126806893, LOC126806894, LOC126806895, LOC126806896, LOC129389185, LOC129389186, LOC129389187, LOC129389188, LOC129938008, LOC129938009, LOC129938010, LOC129938011, LOC129938012, LOC129938013, LOC129938014, LOC129938015, LOC129938016, LOC129938017, LOC129938018, LOC129938019, LOC129938020, LOC129938021, LOC129938022, LOC129938023, LOC129938024, LOC129938025, LOC129938026, LOC129938027, LOC129938028, LOC129938029, LOC129938030, LOC129938031, LOC129938032, LOC129938033, LOC129938034, LOC129938035, LOC129938036, LOC129938037, LOC129938038, LOC129938039, LOC129938040, LOC129938041, LOC129938042, LOC129938043, LOC129938044, LOC129938045, LOC129938046, LOC129938047, LOC129938048, LOC129938049, LOC129938050, LOC129938051, LOC129938052, LOC129938053, LOC129938054, LOC129938055, LOC129938056, LOC129938057, LOC129938058, LOC129938059, LOC129938060, LOC129938061, LOC129938062, LOC129938063, LOC129938064, LOC129938065, LOC129938066, LOC129938067, LOC129938068, LOC129938069, LOC129938070, LOC129938071, LOC129938072, LOC129938073, LOC129938074, LOC129938075, LOC129938076, LOC129938077, LOC129938078, LOC129938079, LOC129938080, LOC129938081, LOC129938082, MAGEF1, MAP3K13, MAP6D1, MCCC1, MCF2L2, MIR1224, MIR4448, MIR5588, PARL, POLR2H, PSMD2, SENP2, SNHG33, SNORA63D, SNORA63E, SNORD66, THPO, TMEM41A, VPS8, VWA5B2, YEATS2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADCY5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADNP
|
0 |
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 |
0 |
1
|
AIFM3, CRKL, KLHL22, LZTR1, MED15, P2RX6, PI4KA, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, USP41, ZNF74
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARMC3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BCORL1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C12orf57
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDK20
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDKL5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHAF1B
|
0 |
1
|
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
|
COL4A4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSMD2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CSNK2A1, LOC121852996, LOC125384558, LOC126862948, LOC129391147, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DAGLA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DEAF1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DYNLT2B, MUC20, MUC4, PCYT1A, RNF168, SLC51A, SMCO1, TFRC, TM4SF19, TNK2, UBXN7, ZDHHC19
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EMILIN2, LPIN2, METTL4, MYL12A, MYL12B, MYOM1, NDC80, SMCHD1, TGIF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FERRY3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FIBP
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FOXG1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GNB5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HIVEP1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HNRNPH2, RPL36A-HNRNPH2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
JARID2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIF5B
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KMT2A
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC101928834, LOC124403918, LOC129390148, MALRD1, PLXDC2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126862264, MEFV
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAGED2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAOA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MAP1B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MARK2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MINK1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MT-ND1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OTUD7A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PHLPP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PPP2R1A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
QARS1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RFX3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RPL17, RPL17-C18orf32
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SCAPER
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SHANK3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SIK1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SNAP25
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SOX5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SP4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SPAST
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SYNGAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TBC1D9
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TCF20
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TCF4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TLN1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TMEM47
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UPF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
VAV1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
VPS13B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
WDR83
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ZBTB10
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely risk allele |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
91
|
9
|
0 |
0 |
0 |
0 |
100
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
6
|
3
|
12
|
0 |
0 |
0 |
0 |
0 |
21
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
18
|
0 |
0 |
0 |
18
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
0 |
17
|
0 |
0 |
0 |
0 |
0 |
17
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
5
|
3
|
5
|
1
|
0 |
0 |
0 |
0 |
14
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
1
|
10
|
0 |
0 |
0 |
0 |
0 |
12
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
5
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
OMIM
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
8
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
5
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
5
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
0 |
1
|
0 |
0 |
2
|
3
|
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
0 |
5
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
2
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
5
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
RettBASE
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Ulm
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT), Hospital de Niños Dr. Ricardo Gutiérrez
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Gene Discovery Core-Manton Center, Boston Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Fundacion Jimenez Diaz University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Lab, Policlinico S. Orsola.Malpighi
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The Division of Genetics and Genomic Medicine, Washington University School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics, University Hospital Essen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Dustin Baldridge Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
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Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand
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Institute of Human Genetics, University Hospital Muenster
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