ClinVar Miner

Variants studied for nuclear oculomotor paralysis

Included ClinVar conditions (11):
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
20 6 81 27 4 1 138

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHN1 10 2 41 5 4 1 62
MAFB 4 0 6 2 0 0 12
COL25A1 4 3 2 0 0 0 9
CHN1, LOC126806410 0 0 5 0 0 0 5
GNAS 0 0 4 0 0 0 4
CUX1 0 0 3 0 0 0 3
HECW2 0 0 0 3 0 0 3
ACTR1B 0 0 2 0 0 0 2
CDH11 0 0 0 2 0 0 2
FER 0 0 2 0 0 0 2
GARIN4 0 0 0 2 0 0 2
KBTBD7, LOC101929140 0 0 0 2 0 0 2
KIF5C 0 0 2 0 0 0 2
MRPL28 0 0 0 2 0 0 2
PLCB2 0 0 0 2 0 0 2
PTCH2 0 0 0 2 0 0 2
SIM1 0 0 0 2 0 0 2
​intergenic 0 0 1 0 0 0 1
ADAM12, ADAM8, ADGRA1, AS-PTPRE, BNIP3, C10orf143, C10orf90, CALY, CFAP46, CLRN3, DOCK1, DPYSL4, EBF3, ECHS1, FANK1, FOXI2, FUOM, GLRX3, INPP5A, INSYN2A, JAKMIP3, KNDC1, LINC00601, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC02667, LINC02870, LINC03068, LOC102724883, LOC105378552, LOC107984281, LOC107984282, LOC110120846, LOC110120892, LOC110120916, LOC110120924, LOC110120928, LOC110121444, LOC110599579, LOC111875835, LOC111946221, LOC121366093, LOC124416933, LOC124416934, LOC124416935, LOC124416936, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC126861101, LOC126861102, LOC126861103, LOC126861104, LOC126861105, LOC126861106, LOC129390239, LOC129390240, LOC129390241, LOC130004945, LOC130004946, LOC130004947, LOC130004948, LOC130004949, LOC130004950, LOC130004951, LOC130004952, LOC130004953, LOC130004954, LOC130004955, LOC130004956, LOC130004957, LOC130004958, LOC130004959, LOC130004960, LOC130004961, LOC130004962, LOC130004963, LOC130004964, LOC130004965, LOC130004966, LOC130004967, LOC130004968, LOC130004969, LOC130004970, LOC130004971, LOC130004972, LOC130004973, LOC130004974, LOC130004975, LOC130004976, LOC130004977, LOC130004978, LOC130004979, LOC130004980, LOC130004981, LOC130004982, LOC130004983, LOC130004984, LOC130004985, LOC130004986, LOC130004987, LOC130004988, LOC130004989, LOC130004990, LOC130004991, LOC130004992, LOC130004993, LOC130004994, LOC130004995, LOC130004996, LOC130004997, LOC130004998, LOC130004999, LOC130005000, LOC130005001, LOC130005002, LOC130005003, LOC130005004, LOC130005005, LOC130005006, LOC130005007, LOC130005008, LOC130005009, LOC130005010, LOC130005011, LOC130005012, LOC130005013, LOC130005014, LOC130005015, LOC130005016, LOC130005017, LOC130005018, LOC130005019, LOC130005020, LOC130005021, LOC130005022, LOC130005023, LOC130005024, LOC130005025, LOC130005026, LOC130005027, LOC130005028, LOC130005029, LOC130005030, LOC130005031, LOC132089757, LOC132089758, LOC132089759, LOC132089760, LOC132089761, LOC132090830, LOC728158, LRRC27, MGMT, MIR202, MIR202HG, MIR378C, MIR3944, MIR4297, MKI67, MTG1, NKX6-2, NPS, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, TCERG1L, TUBGCP2, UTF1, VENTX, ZNF511, ZNF511-PRAP1 1 0 0 0 0 0 1
ADAMTS8 0 0 1 0 0 0 1
AMH 0 0 0 1 0 0 1
BCDIN3D 0 0 0 1 0 0 1
BSN 0 0 1 0 0 0 1
CHN1, LOC129935151 0 0 1 0 0 0 1
COL7A1 0 0 1 0 0 0 1
EBF3 0 1 0 0 0 0 1
FOXL2 0 0 1 0 0 0 1
HSPB7 0 0 0 1 0 0 1
INTS6L 0 0 1 0 0 0 1
KDM6B 0 0 1 0 0 0 1
KIF1A 0 0 1 0 0 0 1
NPIPA5 0 0 1 0 0 0 1
PLXND1 0 0 1 0 0 0 1
PTPN11 0 0 1 0 0 0 1
TUBA8 0 0 1 0 0 0 1
WFS1 1 0 0 0 0 0 1
ZNF787 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 42 5 4 0 51
CHU Sainte-Justine Research Center, University of Montreal 0 0 6 20 0 0 26
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 19 0 0 0 20
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 0 0 6 2 0 0 8
Engle Laboratory, Boston Children's Hospital 4 0 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 1 0 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Clinics for Rare Diseases Referral (Hong Kong), The University of Hong Kong 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1

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