ClinVar Miner

Variants studied for holoprosencephaly 3

Included ClinVar conditions (4):
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
62 55 191 88 45 427

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SHH 57 55 85 70 17 270
LMBR1, SHH 0 0 105 18 25 148
LMBR1, SHH, ZRS 0 0 0 0 3 3
​intergenic 1 0 0 0 0 1
BLACE, CNPY1, DNAJB6, DPP6, DYNC2I1, EN2, EN2-DT, ESYT2, HTR5A, INSIG1, INSIG1-DT, LINC00244, LINC00689, LINC01022, LINC03010, LMBR1, LOC101927914, LOC105375589, LOC105375610, LOC106049962, LOC108254663, LOC110121044, LOC110121094, LOC110121203, LOC110599567, LOC113687207, LOC113687208, LOC114004407, LOC114255744, LOC116186918, LOC121201619, LOC121201620, LOC121201621, LOC121740705, LOC121740706, LOC121740707, LOC123956275, LOC123956276, LOC123956277, LOC123956278, LOC123956279, LOC123956280, LOC123956281, LOC123956282, LOC123956283, LOC123956284, LOC123956285, LOC126860237, LOC126860238, LOC126860239, LOC126860240, LOC126860241, LOC126860242, LOC126860243, LOC126860244, LOC126860245, LOC126860246, LOC126860247, LOC126860248, LOC126860249, LOC126860250, LOC126860251, LOC126860252, LOC126860253, LOC126860254, LOC126860255, LOC126860256, LOC126860257, LOC126860258, LOC126860259, LOC126860260, LOC126860261, LOC126860262, LOC126860263, LOC126860264, LOC126860265, LOC129389940, LOC129389941, LOC129389942, LOC129389943, LOC129389944, LOC129389945, LOC129389946, LOC129389947, LOC129389948, LOC129389949, LOC129389950, LOC129999690, LOC129999691, LOC129999692, LOC129999693, LOC129999694, LOC129999695, LOC129999696, LOC129999697, LOC129999698, LOC129999699, LOC129999700, LOC129999701, LOC129999702, LOC129999703, LOC129999704, LOC129999705, LOC129999706, LOC129999707, LOC129999708, LOC129999709, LOC129999710, LOC129999711, LOC129999712, LOC129999713, LOC129999714, LOC129999715, LOC129999716, LOC129999717, LOC129999718, LOC129999719, LOC129999720, LOC129999721, LOC129999722, LOC129999723, LOC129999724, LOC129999725, LOC129999726, LOC129999727, LOC129999728, LOC129999729, LOC129999730, LOC129999731, LOC129999732, LOC129999733, LOC129999734, LOC129999735, LOC129999736, LOC129999737, LOC129999738, LOC129999739, LOC129999740, LOC129999741, LOC129999742, LOC129999743, LOC129999744, LOC129999745, LOC129999746, LOC129999747, LOC129999748, LOC129999749, LOC129999750, LOC129999751, LOC129999752, LOC129999753, LOC129999754, LOC129999755, LOC129999756, LOC129999757, LOC129999758, LOC129999759, LOC129999760, LOC129999761, LOC129999762, LOC129999763, LOC129999764, LOC129999765, LOC129999766, LOC129999767, LOC129999768, LOC132089518, LOC132089519, LOC132089520, LOC285889, LOC389602, MIR153-2, MIR5707, MIR595, MNX1, NCAPG2, NOM1, PAXIP1, PAXIP1-DT, PTPRN2, RBM33, RBM33-DT, RNF32, RNF32-DT, SBE2, SHH, UBE3C, VIPR2, ZRS 1 0 0 0 0 1
CNPY1, DNAJB6, EN2, HTR5A, INSIG1, LMBR1, MNX1, NCAPG2, NOM1, PAXIP1, PTPRN2, RBM33, RNF32, SHH, UBE3C 1 0 0 0 0 1
CNPY1, EN2, HTR5A, INSIG1, RBM33, SHH 1 0 0 0 0 1
DNAJB6, LMBR1, MNX1, NOM1, RNF32, SHH, UBE3C 0 0 1 0 0 1
SIX3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 4 177 85 40 313
Laboratory of Molecular Genetics, CHU Rennes 18 43 0 0 0 61
GeneReviews 26 0 0 0 7 33
OMIM 18 0 1 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 1 0 0 5
Muenke lab, National Institutes of Health 3 1 1 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 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.