ClinVar Miner

Variants studied for chromosome 1p32-p31 deletion syndrome

Included ClinVar conditions (1):
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
11 8 6 1 1 27

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NFIA 8 8 5 1 1 23
​intergenic 1 0 0 0 0 1
ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DHCR24, DIO1, DMRTB1, DNAJC6, DOCK7, EFCAB7, FAM151A, FGGY, FOXD3, FYB2, GLIS1, HOOK1, IFT25, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LRP8, LRRC42, MAGOH, MIR101-1, MROH7, MRPL37, MYSM1, NDC1, NFIA, OMA1, PARS2, PATJ, PCSK9, PDE4B, PGM1, PLPP3, PRKAA2, RAVER2, ROR1, SSBP3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1 1 0 0 0 0 1
LOC122056894, NFIA 0 0 1 0 0 1
LOC122056897, LOC129388539, LOC129388540, NFIA 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 1 0 6
OMIM 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 2
3billion 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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