ClinVar Miner

Variants studied for chromosome 17p deletion

Included ClinVar conditions (6):
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 not provided total
17 3 33 12 12 7 78

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMP22 5 2 31 11 12 6 61
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 4 0 0 0 0 0 4
​intergenic 1 1 0 0 0 0 2
ABR, BHLHA9, CRK, DOC2B, GEMIN4, GLOD4, INPP5K, LIAT1, MRM3, MYO1C, NXN, PITPNA, RFLNB, RPH3AL, TIMM22, TLCD3A, TRARG1, VPS53, YWHAE 1 0 0 0 0 0 1
ABR, BHLHA9, CRK, DPH1, GEMIN4, GLOD4, HIC1, INPP5K, LIAT1, METTL16, MIR132, MIR212, MIR22, MNT, MRM3, MYO1C, NXN, OVCA2, PITPNA, PRPF8, RFLNB, RILP, RPA1, RPH3AL, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SRR, TIMM22, TLCD2, TLCD3A, TRARG1, TSR1, VPS53, WDR81, YWHAE 1 0 0 0 0 0 1
ADORA2B, ARHGAP44, CDRT15, CDRT4, COX10, ELAC2, FBXW10B, HS3ST3A1, HS3ST3B1, MYOCD, NCOR1, PMP22, TBC1D26, TEKT3, TRIM16, TTC19, TVP23C, TVP23C-CDRT4, ZNF286A, ZSWIM7 0 0 0 0 0 1 1
CACNA1S 0 0 0 1 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, FBXW10B, HS3ST3B1, LOC101928475, LOC105943586, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
LMNA 0 0 1 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
MIR4731, PMP22 1 0 0 0 0 0 1
MYO1C 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 21 10 11 0 42
OMIM 7 0 0 0 0 0 7
Baylor Genetics 5 1 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 1 1 0 6
Inherited Neuropathy Consortium 0 0 6 0 0 0 6
GeneReviews 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 1 0 0 2
Mendelics 0 1 0 0 1 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1

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