ClinVar Miner

Variants studied for holoprosencephaly 3

Included ClinVar conditions (3):
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
45 13 170 76 44 340

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SHH 40 13 74 57 17 193
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
SIX3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 4 160 73 39 283
GeneReviews 26 0 0 0 7 33
OMIM 18 0 1 0 0 19
Muenke lab, National Institutes of Health 3 1 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 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
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
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

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