ClinVar Miner

Variants studied for cryptorchidism

Included ClinVar conditions (23):
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
20 5 10 0 2 36

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
INSL3 5 0 2 2 8
​intergenic 4 0 2 0 6
SZT2 0 2 0 0 2
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CCDC183, CLIC3, CYSRT1, DIPK1B, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM166A, FBXW5, FUT7, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 1
ANKRD11 1 0 0 0 1
ARID1B, TMEM242, ZDHHC14 0 0 1 0 1
ATRX 1 0 0 0 1
BTD 0 0 1 0 1
FGF14 0 1 0 0 1
KAT6B 0 1 0 0 1
LOC126862264, MEFV 1 0 0 0 1
LSM1 0 0 1 0 1
MEFV 0 0 1 0 1
MFSD2A 1 0 0 0 1
NIPBL 0 1 0 0 1
NSD1 1 0 0 0 1
RAB3GAP1 1 0 0 0 1
RXFP2 0 0 1 0 1
SMCHD1 1 0 0 0 1
SOX3 0 0 1 0 1
TMCO1 1 0 0 0 1
TUBA1A 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign total
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 4
Human Genetics Department, Tarbiat Modares University 2 0 0 0 2
Genome-Nilou Lab 0 0 0 2 2
Medical Genetics Laboratory, CHRU Nancy 2 0 0 0 2
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 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

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