ClinVar Miner

Variants studied for arthrogryposis, distal, type 1A

Included ClinVar conditions (3):
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 risk factor total
14 10 77 100 21 1 217

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
TPM2 13 10 72 100 21 0 210
MYH8, MYHAS 0 0 2 0 0 0 2
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 1
CCIN, CLTA, CREB3, FAM221B, GBA2, GLIPR2, GNE, HINT2, HRCT1, MSMP, NPR2, OR13J1, OR2S2, RECK, RGP1, SPAG8, TLN1, TMEM8B, TPM2 0 0 1 0 0 0 1
CNTNAP1 1 0 0 0 0 0 1
MET 0 0 0 0 0 1 1
MYH3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 8 9 55 98 15 0 185
Illumina Laboratory Services, Illumina 0 0 17 1 6 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Mendelics 1 0 0 0 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
OMIM 1 0 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1

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