ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 2B

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
41 16 338 423 18 834

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
PEX5 41 15 335 423 18 830
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, ZNF705A 0 0 1 0 0 1
ABCD1 0 0 1 0 0 1
ACRBP, ATN1, C12orf57, C1R, C1RL, C1S, CD27, CD4, CDCA3, CHD4, CLSTN3, COPS7A, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, P3H3, PEX5, PHB2, PIANP, PTMS, PTPN6, RBP5, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, ZNF384 0 0 1 0 0 1
PEX6 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 14 336 423 16 829
Baylor Genetics 0 1 3 0 0 4
Genome-Nilou Lab 0 0 0 0 2 2
OMIM 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1

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