ClinVar Miner

Variants studied for cryptorchidism (disease)

Included ClinVar conditions (37):
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 total
25 10 26 3 0 64

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
​intergenic 4 0 2 0 6
INSL3 5 0 0 0 5
KIAA0586 2 0 0 0 2
MEFV 1 0 1 0 2
NF1 0 1 1 0 2
SZT2 0 2 0 0 2
ANKRD11 1 0 0 0 1
ARID1B, TMEM242, ZDHHC14 0 0 1 0 1
ATP6V1A 0 0 1 0 1
ATRX 1 0 0 0 1
BTD 0 0 1 0 1
CASK 1 0 0 0 1
CBS 1 0 0 0 1
CCDC40 0 0 1 0 1
COL1A1 1 0 0 0 1
COL2A1 0 0 1 0 1
COL5A1 0 0 1 0 1
COL6A2 0 0 1 0 1
CPT1A 0 0 1 0 1
CYP19A1, MIR4713HG, PIRC66 0 1 0 0 1
DLAT 0 0 1 0 1
DUSP29, KAT6B 0 1 0 0 1
DUSP6 0 0 1 0 1
FGF14 0 1 0 0 1
FOXP1 1 0 0 0 1
GATAD2B 0 1 0 0 1
GDNF 0 0 1 0 1
GLB1 0 1 0 0 1
KANSL1 0 0 1 0 1
KISS1R 0 1 0 0 1
KMT2A 0 0 1 0 1
KMT2D 0 0 0 1 1
LOC101927870, RELN 0 0 1 0 1
LSM1 0 0 1 0 1
MAP2K2 0 0 1 0 1
MFSD2A 1 0 0 0 1
MTOR 0 0 1 0 1
NEK1 0 0 1 0 1
NIPBL 0 1 0 0 1
NOD2 0 0 1 0 1
NSD1 1 0 0 0 1
ROGDI 0 0 0 1 1
RXFP2 0 0 1 0 1
SLC9A6 0 0 0 1 1
SMCHD1 1 0 0 0 1
SOX3 0 0 1 0 1
TMCO1 1 0 0 0 1
TRPV4 0 0 1 0 1
TUBA1A 1 0 0 0 1
TUBB3 1 0 0 0 1
YWHAZ 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 7 20 3 38
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 4 3 2 0 9
OMIM 5 0 1 0 6
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 4 0 2 0 6
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 1
Human Genetics Department,Tarbiat Modares University 1 0 0 0 1

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