ClinVar Miner

Variants studied for partial deletion of the long arm of chromosome 17

Included ClinVar conditions (4):
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 total
12 1 6 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RNF135 0 0 6 6
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 2 0 0 2
​intergenic 1 0 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 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 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 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 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3F, ZNHIT3 1 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3F, ZNHIT3 0 1 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3H, ZNHIT3 1 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 1
SLC2A1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 0 0 4 4
Baylor Genetics 2 0 1 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 2
GeneReviews 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 1

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