ClinVar Miner

Variants studied for Proteasome-associated autoinflammatory syndrome 1

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
8 1 48 7 9 71

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PSMB8 7 1 47 7 9 69
ABHD16A, AGER, AGPAT1, AIF1, ANKS1A, APOM, ARMC12, ATF6B, ATP6V1G2, B3GALT4, BAG6, BAK1, BLTP3A, BNIP5, BRD2, BRPF3, BTNL2, C2, C4A, C4B, C6orf15, C6orf47, C6orf89, CCHCR1, CDKN1A, CDSN, CFB, CLIC1, CLPS, CLPSL1, CLPSL2, COL11A2, CPNE5, CSNK2B, CUTA, CYP21A2, DAXX, DDAH2, DDR1, DDX39B, DEF6, DXO, EGFL8, EHMT2, ETV7, FANCE, FKBP5, FKBPL, FLOT1, GPANK1, GPSM3, GRM4, GTF2H4, HCG22, HCG26, HCP5, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HMGA1, HSD17B8, HSPA1A, HSPA1B, HSPA1L, IER3, ILRUN, IP6K3, ITPR3, KCTD20, KIFC1, LEMD2, LHFPL5, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, MAPK13, MAPK14, MCCD1, MICA, MICB, MIR219A1, MLN, MPIG6B, MSH5, MTCH1, MUC21, MUC22, MUCL3, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, NUDT3, PACSIN1, PBX2, PFDN6, PHF1, PI16, PNPLA1, POU5F1, PPARD, PPIL1, PPT2, PRRC2A, PRRT1, PSMB8, PSMB9, PSORS1C1, PSORS1C2, PXT1, RAB44, RGL2, RING1, RNF5, RPL10A, RPS10, RPS18, RXRB, SAPCD1, SCUBE3, SFTA2, SKIC2, SLC26A8, SLC39A7, SLC44A4, SMIM29, SNHG32, SNRPC, SPDEF, SRPK1, SRSF3, STK19, STK38, SYNGAP1, TAF11, TAP1, TAP2, TAPBP, TCF19, TCP11, TEAD3, TNF, TNXB, TSBP1, TULP1, UQCC2, VARS1, VARS2, VPS52, VWA7, WDR46, ZBTB12, ZBTB22, ZBTB9, ZNF76 0 0 1 0 0 1
PSMB4 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
Invitae 1 0 31 2 0 34
Illumina Laboratory Services, Illumina 0 0 13 3 9 25
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 0 0 2 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1 0 2
Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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