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
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 #
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
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.