ClinVar Miner

Variants studied for Chromosome Xq28 duplication syndrome

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
5 0 1 0 0 2 8

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic uncertain significance not provided total
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF275 1 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, LOC111365170, LOC116309161, LOC116309162, LOC121853071, LOC125467793, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNB3, PNCK, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 1 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, LOC111365170, LOC116309162, LOC125467793, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, RENBP, TEX28, TKTL1, TMEM187 1 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, GDI1, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 1
BRCC3, CLIC2, CMC4, F8, F8A1, F8A2, F8A3, FUNDC2, H2AB1, H2AB2, H2AB3, LOC101927830, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC113875016, LOC121627986, LOC125467795, LOC126863349, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, MIR1184-1, MIR1184-2, MIR1184-3, MTCP1, RAB39B, TMLHE, VBP1 1 0 0 1
BRCC3, CLIC2, CMC4, F8, FUNDC2, MTCP1, RAB39B, VBP1 0 0 1 1
IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TMEM187 1 0 0 1
SPANXN1 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance not provided total
Laboratory of Reproductive Genetics, Women’s Hospital, School of Medicine, Zhejiang University 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1
GenomeConnect, ClinGen 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 1
New York Genome Center 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 1 1

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