ClinVar Miner

Variants studied for diffuse palmoplantar keratoderma

Included ClinVar conditions (50):
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
171 16 531 294 118 1107

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JUP 8 3 142 55 19 216
DSP 6 1 63 73 10 152
SNAP29 3 0 59 17 10 89
WNT10A 16 3 50 23 5 88
GJB2 31 3 11 21 11 76
TRPV3 5 0 24 29 17 75
SPATA22, TRPV3 0 0 29 23 22 74
CTSC 15 2 47 6 2 71
KRT9 11 0 35 6 0 52
GJB3 5 0 20 15 11 51
GJB6 3 1 29 4 4 41
KRT1 4 0 8 18 4 34
COG6 2 0 6 3 3 14
SLURP1 9 0 4 1 0 14
DSG1 7 1 0 0 0 8
GJB4 6 1 0 0 0 7
NLRP1 4 0 1 0 0 5
KDSR 4 0 0 0 0 4
KRT16 3 0 1 0 0 4
SERPINB7 4 0 0 0 0 4
AQP5 3 0 0 0 0 3
GJA1 3 0 0 0 0 3
KRT14 3 0 0 0 0 3
KRT6C 3 0 0 0 0 3
LOR 2 0 1 0 0 3
SMARCAD1 3 0 0 0 0 3
AQP5, LOC101927318 2 0 0 0 0 2
RSPO1 2 0 0 0 0 2
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, MIR4499, XPO4 0 0 1 0 0 1
GGT2, SNAP29 0 1 0 0 0 1
KRT83 1 0 0 0 0 1
MBTPS2 1 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 1
POMP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 354 249 86 690
Invitae 12 5 162 45 32 256
OMIM 134 0 0 0 0 134
Fulgent Genetics,Fulgent Genetics 22 3 13 0 0 38
Department of Prosthodontics,Peking University School and Hospital of Stomatology 5 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 3 2 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 5 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 3 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 3
GeneReviews 1 0 0 0 1 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 2
State Key Laboratory Of Oral Diseases,Sichuan University 2 0 0 0 0 2
Counsyl 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Medical Genetics,University of Parma 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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