ClinVar Miner

Variants studied for anophthalmia/microphthalmia-esophageal atresia syndrome

Included ClinVar conditions (2):
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
68 8 30 29 9 142

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LOC108281177, SOX2, SOX2-OT 49 8 20 15 2 93
SOX2, SOX2-OT 11 0 9 14 7 40
​intergenic 1 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, ATP11B, B3GNT5, CAMK2N2, CHRD, CLCN2, DCUN1D1, DVL3, ECE2, EIF2B5, EIF4G1, EPHB3, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAGEF1, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, SOX2, SOX2-OT, THPO, VPS8, VWA5B2, YEATS2 1 0 0 0 0 1
ACTL6A, CCDC39, DNAJC19, FXR1, LINC01206, LINC02053, LOC101928882, LOC102724604, LOC108281177, LOC108281178, LOC110120606, LOC110120632, LOC110120734, LOC114004376, LOC123256953, LOC123256954, LOC123256955, LOC126806881, LOC126806882, LOC126806883, LOC129937982, LOC129937983, LOC129937984, LOC129937985, LOC129937986, LOC129937987, LOC129937988, LOC129937989, LOC129937990, LOC129937991, LOC129937992, LOC129937993, LOC129937994, LOC129937995, LOC129937996, LOC129937997, MRPL47, NDUFB5, PEX5L, SOX2, SOX2-OT, TTC14, TTC14-DT, USP13 1 0 0 0 0 1
ATP11B, B3GNT5, DCUN1D1, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, PARL, SOX2, SOX2-OT, YEATS2 1 0 0 0 0 1
B3GNT5, LAMP3, MCF2L2 1 0 0 0 0 1
C14orf39, SIX6 0 0 1 0 0 1
CCDC39, DNAJC19, FXR1, SOX2, SOX2-OT, TTC14 1 0 0 0 0 1
LOC108281177, LOC108281178, LOC123256955, SOX2, SOX2-OT 1 0 0 0 0 1
MCF2L2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 2 21 29 9 83
Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia 24 0 2 0 0 26
OMIM 17 0 0 0 0 17
Revvity Omics, Revvity 2 0 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 3
MGZ Medical Genetics Center 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 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Division of Critical Care, Department of Pediatrics, Cardinal Glennon Children's Hospital 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
3billion 1 0 0 0 0 1

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