ClinVar Miner

Variants studied for third cranial nerve disorder

Included ClinVar conditions (16):
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
29 6 111 32 5 1 183

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHN1 10 1 41 5 4 1 61
MAFB 5 0 27 3 0 0 35
MAPT 8 1 8 4 1 0 22
COL25A1 4 3 3 0 0 0 10
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
KBTBD6-DT, KBTBD7 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: 23
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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
Fulgent Genetics, Fulgent Genetics 4 0 33 6 1 0 44
CHU Sainte-Justine Research Center, University of Montreal 0 0 6 20 0 0 26
OMIM 21 0 0 0 0 0 21
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 20 0 0 0 21
Engle Laboratory, Boston Children's Hospital 4 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 0 4
Revvity Omics, Revvity 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Genomic Medicine Lab, University of California San Francisco 0 1 0 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
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1

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