ClinVar Miner

Variants studied for GTP cyclohydrolase I deficiency

Included ClinVar conditions (6):
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
87 25 189 159 36 461

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
GCH1 72 23 162 135 28 387
GCH1, LOC130055692 11 0 25 22 7 63
GCH1, LOC130055688 0 0 0 2 1 3
PTS 1 1 1 0 0 3
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308 1 0 1 0 0 2
ATG14, BMP4, CDKN3, CGRRF1, CNIH1, DLGAP5, FBXO34, GCH1, GMFB, KTN1, LGALS3, LINC00520, LOC109433677, LOC110121362, LOC111413016, LOC112268483, LOC112268484, LOC112268485, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC130055670, LOC130055671, LOC130055672, LOC130055673, LOC130055674, LOC130055675, LOC130055676, LOC130055677, LOC130055678, LOC130055679, LOC130055680, LOC130055681, LOC130055682, LOC130055683, LOC130055684, LOC130055685, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, LOC130055693, LOC130055694, LOC130055695, LOC130055696, LOC130055697, LOC130055698, LOC130055699, LOC130055700, LOC130055701, LOC130055702, LOC130055703, LOC130055704, LOC130055705, LOC130055706, LOC130055707, LOC130055708, LOC130055709, LOC130055710, LOC130055711, LOC130055712, LOC130055713, LOC130055714, LOC130055715, LOC130055716, LOC130055717, MAPK1IP1L, MIR4308, PELI2, SAMD4A, SOCS4, TBPL2, WDHD1 1 0 0 0 0 1
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A 1 0 0 0 0 1
TH 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 63 13 130 149 9 364
Illumina Laboratory Services, Illumina 0 1 50 13 29 76
OMIM 22 0 0 0 0 22
Mendelics 4 2 0 0 2 8
Fulgent Genetics, Fulgent Genetics 0 0 7 0 0 7
3billion 3 1 1 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 4
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 1 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
National Reference Laboratory of Biochemistry, Pasteur Institute of Iran 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 1

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