ClinVar Miner

Variants studied for Familial aplasia of the vermis

Coded as:
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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
281 107 1007 973 124 2480

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AHI1 150 34 426 580 53 1243
INPP5E 47 17 278 239 40 619
RPGRIP1L 11 7 180 15 15 227
TMEM216 20 13 55 115 10 213
MKS1 12 3 0 0 0 15
CEP41 0 0 9 3 1 13
CPLANE1 2 4 5 2 0 13
CEP290 2 0 7 0 3 12
ARMC9 0 10 0 0 0 10
TTC21B 0 0 8 1 1 10
TCTN2 8 0 1 0 0 9
TOGARAM1 8 8 1 0 0 9
AHI1, LOC128669075 0 0 0 8 0 8
CYB561A3, TMEM138 0 0 6 1 0 7
TMEM237 1 1 4 1 0 7
CC2D2A 1 0 4 1 0 6
B9D2 3 1 0 0 0 4
TMEM138 0 0 4 0 0 4
B9D1 3 0 0 0 0 3
C2CD3 3 0 0 0 0 3
PIBF1 0 2 2 0 0 3
TMEM218 3 0 0 0 0 3
ARL13B 0 1 1 0 0 2
ATP6V0A2, LOC130009117, TCTN2 0 0 0 2 0 2
ATP6V0A2, TCTN2 0 0 1 0 1 2
CBY1 2 0 0 0 0 2
CEP290, RLIG1 0 0 1 1 0 2
CLUAP1 0 2 0 0 0 2
KIAA0586 1 1 0 0 0 2
NPHP1 0 0 2 0 0 2
TMEM67 0 0 2 0 0 2
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 1 0 0 0 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 1
AHI1, LOC129389653, LOC129997223 1 0 0 0 0 1
CPLANE1, LOC129993816 0 0 0 1 0 1
CPSF7, SDHAF2, TMEM216 0 0 1 0 0 1
EXOC8 0 0 1 0 0 1
FAM149B1 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
IFT172 1 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 1
KATNIP 0 1 0 0 0 1
KIF7 0 0 1 0 0 1
LOC129935417, TMEM237 0 0 1 0 0 1
LOC130061271, MKS1 1 0 0 0 0 1
LRRC34 0 0 1 0 0 1
PDPR 0 0 0 1 0 1
RCOR1 0 1 0 0 0 1
TCTN1 0 0 0 1 0 1
TMEM17 0 0 1 0 0 1
TMEM231 0 0 1 0 0 1
WDPCP 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 217 65 756 940 102 2080
Natera, Inc. 9 5 177 15 15 221
Illumina Laboratory Services, Illumina 0 0 64 16 9 89
UW Hindbrain Malformation Research Program, University of Washington 53 4 0 0 0 57
University of Washington Center for Mendelian Genomics, University of Washington 0 18 1 0 0 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 7 0 0 0 10
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 3 1 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 1 0 4
OMIM 0 0 2 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 2
Universitätsklinikum Salzburg, Universitätskinderklinik 1 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 1
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 1

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