ClinVar Miner

Variants studied for sella turcica neoplasm

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
86 186 235 60 37 60 634

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH23 46 146 110 12 11 0 321
AIP 9 10 63 11 15 49 138
GNAS 12 0 11 33 2 0 57
C10orf105, CDH23 6 15 10 0 2 0 33
AIP, LOC130006206 0 0 20 1 4 9 31
ALK 0 0 11 1 0 0 12
CDH23, LOC111982869 3 3 1 0 0 0 7
MEN1 1 2 0 1 3 0 7
USP8 5 0 1 0 0 0 6
CTNNB1, LOC126806658 0 4 0 0 0 0 4
GNAI2 1 0 1 0 0 0 2
GPR101 2 0 1 0 0 2 2
TSC1 0 0 2 0 0 0 2
AIP, LOC130006204 0 1 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 1
APC 1 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 1
ERCC2 0 1 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 1
LRP2 0 1 0 0 0 0 1
NF1 0 0 1 0 0 0 1
PMS2 0 1 0 0 0 0 1
PTCH1 0 0 1 0 0 0 1
SUFU 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 51 162 86 0 0 0 299
Fulgent Genetics, Fulgent Genetics 13 4 113 47 8 0 185
GeneReviews 0 8 0 1 0 60 69
Illumina Laboratory Services, Illumina 1 0 11 10 17 0 39
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 2 27 2 0 0 32
OMIM 23 0 0 0 0 0 23
Genome-Nilou Lab 0 0 0 0 7 0 7
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 0 1 5 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 0 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 4
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
Mendelics 0 0 3 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Korbonits Lab, Queen Mary University of London 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 1

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