ClinVar Miner

Variants studied for chromosome 1q deletion

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 not provided total
13 0 2 1 0 2 17

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic uncertain significance likely benign not provided total
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 5 0 0 1 6
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 3 0 0 0 3
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF11, NBPF12, PRKAB2 2 0 0 0 2
GJA8 0 1 1 0 2
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2 0 0 0 1 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 1
CNIH3, CNIH4, DNAH14, NVL, WDR26 1 0 0 0 1
GJA5 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign not provided total
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 0 0 0 4
Baylor Genetics 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 1 0 2
GenomeConnect, ClinGen 0 0 0 2 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 1

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