ClinVar Miner

Variants studied for Holoprosencephaly 3

Coded as:
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
41 11 167 73 44 331

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SHH 37 11 71 54 17 185
LMBR1, SHH 0 0 95 18 24 137
LMBR1, SHH, ZRS 0 0 0 1 3 4
​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

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 4 160 73 39 283
GeneReviews 26 0 0 0 7 33
OMIM 17 0 0 0 0 17
Muenke lab, National Institutes of Health 3 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
Baylor Genetics 1 0 0 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
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
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
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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