ClinVar Miner

Variants studied for craniosynostosis

Included ClinVar conditions (60):
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 risk factor not provided total
278 57 1404 483 206 3 2 2396

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RECQL4 60 17 840 247 64 0 0 1227
SKI 13 6 92 39 17 0 0 161
WDR35 16 5 86 24 9 0 0 133
FGFR2 50 12 23 30 12 0 0 122
FGFR1 4 3 39 42 13 0 0 94
CD96 2 0 41 29 11 0 0 83
IFT122 8 1 54 9 13 0 0 78
MEGF8 6 0 36 15 21 0 0 78
FGFR3 15 0 22 9 24 0 1 71
POR 10 0 45 7 3 0 0 64
WDR19 3 1 46 5 2 0 0 57
TWIST1 21 5 13 2 3 0 0 44
MSX2 2 0 17 11 6 0 0 36
RAB23 6 0 17 3 1 0 0 25
ERF 12 2 2 3 4 0 0 22
KAT6A 11 3 2 2 0 0 0 18
TCF12 13 0 1 0 0 0 1 15
IFT43 1 0 8 0 1 0 0 10
BAG2, RAB23 0 0 7 2 0 0 0 9
IL11RA 5 0 1 0 0 0 0 6
FREM1 2 0 3 0 0 0 0 5
KIFBP 5 0 0 0 0 0 0 5
ZIC1 4 0 0 0 0 0 0 4
IFT52 3 0 0 0 0 0 0 3
ALX4 0 0 0 0 0 2 0 2
CYP26B1 2 0 0 0 0 0 0 2
IFT122, MBD4 0 0 1 1 0 0 0 2
IFT140 2 0 0 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 0 2
LOC101928222, MATN3, WDR35 0 0 0 0 2 0 0 2
​intergenic 0 0 1 0 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 0 0 0 0 1
BMP2 0 0 0 0 0 1 0 1
FBN2 0 0 1 0 0 0 0 1
HUWE1 0 1 0 0 0 0 0 1
KAT6B 0 0 1 0 0 0 0 1
LOC112577524, SKI 0 0 1 0 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 0 1
MATN3, WDR35 0 0 0 1 0 0 0 1
MYH7 0 0 1 0 0 0 0 1
POR, TMEM120A 0 0 1 0 0 0 0 1
SMO 1 0 0 0 0 0 0 1
SPAG17 0 1 0 0 0 0 0 1
TCOF1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 103 29 1017 327 156 0 0 1632
Illumina Clinical Services Laboratory,Illumina 0 0 358 154 49 0 0 561
OMIM 143 0 0 0 0 3 0 146
Fulgent Genetics,Fulgent Genetics 16 2 49 0 0 0 0 67
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 33 7 1 0 0 0 0 41
GeneReviews 22 0 0 0 0 0 0 22
Baylor Genetics 7 1 7 0 0 0 0 15
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 9 0 1 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 4 1 0 0 0 5
Database of Curated Mutations (DoCM) 0 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 3 0 0 0 0 0 5
UF de Génétique Moléculaire,Hôpital Lariboisière 4 0 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 1 1 0 0 1 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, INSERM 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 1 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 0 0 1

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