ClinVar Miner

Variants studied for Radial aplasia-thrombocytopenia syndrome

Coded as:
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Gene type:
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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 pathogenic, low penetrance not provided total
18 6 4 30 9 2 5 64

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
LIX1L, LOC126805851, RBM8A 5 1 1 15 3 2 2 22
LOC126805851, RBM8A 3 1 0 8 5 0 1 16
RBM8A 5 1 2 7 1 0 1 16
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP 2 0 1 0 0 0 0 3
​intergenic 1 1 0 0 0 0 0 2
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388601, LOC129388602, LOC129388603, LOC129388604, LOC129931326, LOC129931327, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, LOC129931364, LOC129931365, LOC129931366, LOC129931367, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-27, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP 0 1 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 0 0 1 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 1 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LINC01719, LIX1L, LOC106783502, LOC108254679, LOC122128419, LOC126805850, LOC126805851, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, MIR6736, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 2 1 4 27 9 2 0 45
GeneReviews 1 0 0 0 0 0 4 5
Fulgent Genetics, Fulgent Genetics 2 0 0 3 0 0 0 5
OMIM 4 0 0 0 0 0 0 4
Mendelics 4 0 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 0 3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 3 0 0 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Clinical Genetics Branch, National Institutes of Health 0 2 0 0 0 0 0 2
dbVar 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 0 1
Genome-Nilou Lab 0 1 0 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 0 1

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