ClinVar Miner

Variants studied for cleft palate

Included ClinVar conditions (37):
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 association total
44 14 49 30 10 1 146

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
TBX22 11 0 17 10 9 0 45
TP63 9 1 15 17 0 0 42
GRHL3 6 2 0 0 0 0 8
​intergenic 2 0 2 0 0 0 4
PDGFRA 0 0 3 0 0 0 3
SATB2 3 0 0 0 0 0 3
PLOD2 0 2 0 0 0 0 2
TMCO1 1 1 0 0 0 0 2
AMER1 1 0 0 0 0 0 1
ARF3 0 1 0 0 0 0 1
ARHGAP29 0 0 1 0 0 0 1
CHN1 0 1 0 0 0 0 1
COL11A1 0 1 0 0 0 0 1
CPLANE1 0 0 1 0 0 0 1
DEPDC5 0 0 1 0 0 0 1
DNAH11 0 0 1 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 0 1
FGF14 0 1 0 0 0 0 1
FLNA 1 0 0 0 0 0 1
GNB1 1 0 0 0 0 0 1
INPP1, LOC129935252 0 0 1 0 0 0 1
INPP5E 1 0 0 0 0 0 1
IRAK1 0 0 1 0 0 0 1
IRF6 1 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 1
LEMD3, LOC124629392, LOC130008224, LOC130008225, LOC130008226 0 0 0 0 0 1 1
LOC109286564, TBX22 0 0 0 0 1 0 1
LRRC32 0 1 0 0 0 0 1
MYO15A 0 0 0 1 0 0 1
MYO19, PIGW 0 1 0 0 0 0 1
NDC1 0 0 1 0 0 0 1
NEK9 0 0 0 1 0 0 1
NFIA 0 1 0 0 0 0 1
NIPBL 1 0 0 0 0 0 1
NSD1 1 0 0 0 0 0 1
PGAP3 1 0 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 1
SETD5 1 0 0 0 0 0 1
SHANK1 1 0 0 0 0 0 1
SMARCA4 0 1 0 0 0 0 1
SOX3 0 0 1 0 0 0 1
TENM4 0 0 0 1 0 0 1
TNFRSF13B 0 0 1 0 0 0 1
VANGL1 0 0 1 0 0 0 1
WFS1 1 0 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 association total
Fulgent Genetics, Fulgent Genetics 0 0 16 18 0 0 34
Illumina Laboratory Services, Illumina 0 0 14 9 8 0 31
OMIM 17 0 3 0 0 0 20
Center for Personalized Medicine, Children's Hospital Los Angeles 5 3 6 1 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 1 0 0 0 8
Hadassah Hebrew University Medical Center 0 1 2 2 0 0 5
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 4 0 0 0 0 0 4
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 0 2 0 0 0 4
Orthodontics Department, Peking University School and Hospital of Stomatology 2 2 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Craniofacial science Laboratory, School of Dental Sciences, universiti sains malaysia 0 0 0 0 0 1 1

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