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
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 #
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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