ClinVar Miner

Variants studied for Hyperphosphatasia with intellectual disability syndrome 2

Coded as:
Minimum submission review status: Collection method:
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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
59 15 483 298 21 1 847

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIGO 57 15 480 297 21 1 841
LOC130001694, PIGO 0 0 2 1 0 0 3
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCL19, CCL21, CCL27, CD72, CIMIP2B, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FANCG, GALT, GBA2, IL11RA, MSMP, NPR2, PHF24, PIGO, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TPM2, UNC13B, VCP 1 0 1 0 0 0 2
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 6 443 289 20 0 815
Illumina Laboratory Services, Illumina 0 1 49 8 9 0 67
Fulgent Genetics, Fulgent Genetics 1 1 6 2 0 0 10
Baylor Genetics 2 0 4 0 0 0 6
Revvity Omics, Revvity 0 1 3 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
OMIM 3 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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