ClinVar Miner

Variants studied for chromosome 17q12 deletion syndrome

Included ClinVar conditions (1):
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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
10 1 0 0 0 11

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic total
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 2 0 2
​intergenic 1 0 1
AATF, ACACA, AP2B1, ASIC2, C17orf50, C17orf75, C17orf78, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL2, CCL23, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, CCL5, CCL7, CCL8, CCT6B, CDK5R1, DHRS11, FNDC8, GAS2L2, GGNBP2, HEATR9, LHX1, LIG3, LYZL6, MMP28, MRM1, MYO19, MYO1D, NLE1, PEX12, PIGW, PSMD11, RAD51D, RASL10B, RDM1, RFFL, RHBDL3, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SPACA3, TADA2A, TAF15, TBC1D3B, TBC1D3C, TBC1D3H, TMEM132E, TMEM132E-DT, TMEM98, UNC45B, ZNF207, ZNF830, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, CCL18, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MRPL45, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3B, TBC1D3C, TBC1D3F, TBC1D3H, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, CCL3L1, CCL3L3, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3B, TBC1D3C, TBC1D3F, TBC1D3H, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3K, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3F, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3F, ZNHIT3 0 1 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3H, ZNHIT3 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic total
Baylor Genetics 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 2
GeneReviews 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 1

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