ClinVar Miner

Variants studied for fetal akinesia deformation sequence

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
219 168 773 1170 115 6 2379

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOK7 71 56 293 465 42 2 907
MUSK 45 23 231 331 42 3 665
RAPSN 77 45 186 331 18 1 620
DOK7, LOC129992118 3 3 24 25 3 0 57
DOK7, LOC126806951 1 3 11 18 2 0 35
NUP88 3 0 3 0 6 0 12
RYR1 4 7 0 0 0 0 11
DOK7, LOC126806951, LOC129992118 3 0 0 0 0 0 3
GLDN 0 3 1 0 0 0 3
NALCN 0 3 0 0 0 0 3
PIEZO2 2 1 0 0 0 0 3
ACTA1 1 1 0 0 0 0 2
ASAH1 0 2 0 0 0 0 2
ASPM 1 1 0 0 0 0 2
BLTP1 0 2 0 0 0 0 2
DYNC1H1 0 0 2 0 0 0 2
EARS2 0 2 0 0 0 0 2
LGI4 0 2 0 0 0 0 2
LOC126862474, NUP88 0 0 1 0 1 0 2
ROR2 0 2 0 0 0 0 2
SPAG16 0 0 2 0 0 0 2
VPS13D 0 0 2 0 0 0 2
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 1
ADD1, DOK7, GRK4, HGFAC, HTT, MFSD10, MSANTD1, NOP14, RGS12, SH3BP2 1 0 0 0 0 0 1
ADSS1 1 0 0 0 0 0 1
ALDH5A1 0 1 0 0 0 0 1
ASCC1 1 0 0 0 0 0 1
ATP2B3 0 1 0 0 0 0 1
AVEN, RYR3 0 0 1 0 0 0 1
CHRND 0 1 0 0 0 0 1
CHRNG 0 1 0 0 0 0 1
CNTNAP1 0 1 0 0 0 0 1
CNTNAP1, LOC125177481 1 0 0 0 0 0 1
DOCK7 0 1 0 0 0 0 1
DQX1 0 0 1 0 0 0 1
EXOSC3 1 0 0 0 0 0 1
FBLN1 0 0 1 0 0 0 1
FBN2 0 1 0 0 0 0 1
GBE1 0 1 0 0 0 0 1
GCN1 0 0 1 0 0 0 1
GFRA4 0 0 1 0 0 0 1
IQSEC3 0 0 1 0 0 0 1
IQSEC3, LOC574538 0 0 1 0 0 0 1
LOC124310625, LOC126860730, MUSK 1 0 0 0 0 0 1
LOC124310625, MUSK 0 1 0 0 0 0 1
MAGI3 0 0 1 0 0 0 1
MUSK, SVEP1, TXN, TXNDC8 0 0 1 0 0 0 1
NAGA 0 0 1 0 0 0 1
NUP88, RABEP1 0 0 0 0 1 0 1
PRG4 0 0 1 0 0 0 1
PRICKLE1 0 0 1 0 0 0 1
PSMC3, RAPSN, SLC39A13 0 0 1 0 0 0 1
SCN4A 0 1 0 0 0 0 1
SCN5A 0 1 0 0 0 0 1
SCN8A 0 1 0 0 0 0 1
SETBP1 1 0 0 0 0 0 1
TMPO 0 0 1 0 0 0 1
UNC50 0 0 1 0 0 0 1
ZEB2 0 0 1 0 0 0 1
ZNF875 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 194 47 701 1162 102 0 2206
Baylor Genetics 41 76 18 0 0 0 131
Cirak Lab, University Hospital Cologne 13 33 22 0 0 0 68
Illumina Laboratory Services, Illumina 0 0 37 5 11 0 53
Fulgent Genetics, Fulgent Genetics 5 1 22 4 1 0 33
Genome-Nilou Lab 0 0 1 0 20 0 21
OMIM 10 0 0 0 0 0 10
Mendelics 3 1 0 0 2 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Counsyl 2 0 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 1 0 3
3billion 0 0 0 3 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Pediatric Genomics Discovery Program, Yale University 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Istanbul Faculty of Medicine, Istanbul University 2 0 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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