ClinVar Miner

Variants studied for chromosome 9 disorder

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
18 3 16 1 8 44

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TELO2 8 3 15 1 8 33
AK3, CD274, CDC37L1, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, MIR101-2, MLANA, PDCD1LG2, PLGRKT, PLPP6, PTPRD, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SPATA6L, TPD52L3, UHRF2, VLDLR 2 0 0 0 0 2
​intergenic 1 0 0 0 0 1
ACER2, ACO1, ADAMTSL1, AK3, ALDH1B1, ANKRD18A, ANKRD18B, ANKRD20A1, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, BNC2, BRD10, C9orf72, CA9, CAAP1, CCDC107, CCDC171, CCIN, CCL19, CCL21, CCL27, CD274, CD72, CDC37L1, CDKN2A, CDKN2B, CER1, CHMP5, CIMIP2B, CLTA, CNTFR, CNTLN, CNTNAP3, CNTNAP3B, CREB3, DCAF10, DCAF12, DCTN3, DENND4C, DMAC1, DMRT1, DMRT2, DMRT3, DMRTA1, DNAI1, DNAJA1, DNAJB5, DOCK8, ELAVL2, ENHO, EQTN, ERMP1, EXOSC3, FAM219A, FAM221B, FAM27D1, FANCG, FBXO10, FOCAD, FREM1, FRMPD1, GALT, GBA2, GLDC, GLIPR2, GLIS3, GNE, GRHPR, HACD4, HAUS6, HINT2, HRCT1, IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNB1, IFNE, IFNW1, IFT74, IGFBPL1, IL11RA, IL33, INSL4, INSL6, IZUMO3, JAK2, KANK1, KCNV2, KDM4C, KIF24, KLHL9, LINGO2, LRRC19, LURAP1L, MELK, MIR101-2, MIR31, MLANA, MLLT3, MOB3B, MPDZ, MSMP, MTAP, MYORG, NDUFB6, NFIB, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PDCD1LG2, PHF24, PIGO, PLAA, PLGRKT, PLIN2, PLPP6, POLR1E, PRSS3, PSIP1, PTPRD, PUM3, RANBP6, RCL1, RECK, RFX3, RGP1, RIC1, RIGI, RLN1, RLN2, RMRP, RNF38, RPP25L, RPS6, RRAGA, RUSC2, SAXO1, SH3GL2, SHB, SIGMAR1, SIT1, SLC1A1, SLC24A2, SLC25A51, SMARCA2, SMU1, SNAPC3, SPAG8, SPATA31A1, SPATA31A3, SPATA31A5, SPATA31A6, SPATA31A7, SPATA31F1, SPATA31G1, SPATA6L, SPINK4, SPMIP6, STOML2, TAF1L, TEK, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPD52L3, TPM2, TRMT10B, TTC39B, TUSC1, TYRP1, UBAP1, UBAP2, UBE2R2, UHRF2, UNC13B, VCP, VLDLR, ZBTB5, ZCCHC7, ZDHHC21, ZNF658 1 0 0 0 0 1
ADAMTSL1, BNC2, CCDC171, CD274, CER1, CNTLN, DENND4C, DMAC1, ERMP1, FREM1, GLDC, HAUS6, IL33, INSL4, INSL6, JAK2, KDM4C, KIAA2026, LURAP1L, MLANA, MPDZ, NFIB, PDCD1LG2, PLGRKT, PLIN2, PSIP1, PTPRD, RANBP6, RIC1, RLN1, RLN2, RRAGA, SAXO1, SH3GL2, SNAPC3, TPD52L3, TTC39B, TYRP1, UHRF2, ZDHHC21 1 0 0 0 0 1
AK3, BNC2, CCDC171, CD274, CDC37L1, CER1, CNTLN, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, FREM1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, LURAP1L, MIR101-2, MLANA, MPDZ, NFIB, PDCD1LG2, PLGRKT, PLPP6, PSIP1, PTPRD, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SH3GL2, SLC1A1, SMARCA2, SNAPC3, SPATA6L, TPD52L3, TTC39B, TYRP1, UHRF2, VLDLR, ZDHHC21 1 0 0 0 0 1
AK3, BRD10, CD274, CDC37L1, CDC37L1-DT, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, LINC01230, LINC01231, LINC02851, LOC105375972, LOC107522029, LOC107882132, LOC108281132, LOC110120591, LOC110120655, LOC110121072, LOC110121197, LOC111413010, LOC111465019, LOC113839544, LOC113839554, LOC114022704, LOC121331316, LOC121331317, LOC121331318, LOC121331319, LOC121740737, LOC121740738, LOC121740739, LOC121811698, LOC124210605, LOC124210606, LOC124210607, LOC124210608, LOC124210609, LOC124210610, LOC124210611, LOC124210612, LOC124210613, LOC124210614, LOC124210615, LOC126860552, LOC126860553, LOC126860554, LOC126860555, LOC126860556, LOC126860557, LOC126860558, LOC126860559, LOC126860560, LOC126860561, LOC126860562, LOC126860563, LOC126860564, LOC126860565, LOC126860566, LOC126860567, LOC126860568, LOC126860569, LOC126860570, LOC126860571, LOC126860572, LOC126860573, LOC126860574, LOC126860575, LOC126860576, LOC126860577, LOC126860578, LOC126860579, LOC129390062, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, LOC130001441, LOC130001442, LOC130001443, LOC130001444, LOC130001445, LOC130001446, LOC130001447, LOC130001448, LOC130001449, LOC130001450, LOC130001451, LOC130001452, LOC130001453, LOC130001454, LOC130001455, LOC130001456, LOC130001457, LOC130001458, LOC130001459, LOC130001460, LOC130001461, LOC130001462, LOC130001463, LOC130001464, LOC130001465, LOC130001466, LOC130001467, LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, LOC130001473, LOC130001474, LOC130001475, LOC130001476, LOC130001477, LOC130001478, LOC130001479, LOC130001480, LOC130001481, LOC130001482, LOC130001483, LOC130001484, LOC130001485, LOC130001486, LOC130001487, LOC130001488, LOC130001489, LOC130001490, LOC130001491, LOC130001492, LOC130001493, LOC130001494, LOC130001495, LOC130001496, LOC130001497, LOC130001498, LOC130001499, LOC130001500, LOC130001501, LOC130001502, LOC130001503, LOC130001504, LOC130001505, LOC130001506, LOC130001507, LOC130001508, LOC130001509, LOC130001510, LOC130001511, LOC130001512, LOC130001513, LOC130001514, LOC130001515, LOC130001516, LOC130001517, LOC130001518, LOC130001519, LOC130001520, LOC130001521, LOC130001522, LOC130001523, LOC130001524, LOC130001525, LOC130001526, LOC130001527, LOC130001528, LOC130001529, LOC130001530, LOC130001531, LOC130001532, LOC130001533, LOC130001534, LOC130001535, LOC130001536, LOC130001537, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545, LOC130001546, LOC130001547, LOC130001548, LOC130001549, LOC130001550, LOC130001551, LOC130001552, LOC130001553, LOC130001554, LOC130001555, LOC130001556, LOC130001557, LOC130001558, MIR101-2, MIR4665, MLANA, PDCD1LG2, PLGRKT, PLPP6, PTPRD, PTPRD-DT, PUM3, RANBP6, RCL1, RFX3, RFX3-DT, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SPATA6L, TPD52L3, UHRF2, VLDLR 1 0 0 0 0 1
AK3, CD274, CDC37L1, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, MIR101-2, MLANA, PDCD1LG2, PLGRKT, PLPP6, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SPATA6L, TPD52L3, UHRF2, VLDLR 1 0 0 0 0 1
BNC2, CCDC171, CER1, FREM1, NFIB, PSIP1, SNAPC3, TTC39B, ZDHHC21 1 0 0 0 0 1
FAM138C, FOXD4, LINC01388, LOC110120718, LOC124210604, LOC129390061, LOC130001433, LOC130001434, MIR1302-9, MIR1302-9HG, PGM5P3, WASHC1, ZNG1A 1 0 0 0 0 1
JMJD1C 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 8 8
OMIM 6 0 0 0 0 6
Baylor Genetics 0 0 6 0 0 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 6 0 0 0 0 6
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 0 0 0 0 5
Revvity Omics, Revvity 0 2 1 0 0 3
Mendelics 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Obstetrics and Gynecology, Juntendo university 1 0 0 0 0 1
Turner Lab, Washington University in St. Louis 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
DASA 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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