ClinVar Miner

Variants studied for 6q terminal deletion syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
0 1 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic total
ASF1A, CALHM4, CALHM5, CALHM6, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDAC2, HS3ST5, HSF2, KPNA5, MAN1A1, MARCKS, MCM9, NT5DC1, NUS1, PKIB, PLN, RFX6, ROS1, RSPH4A, RWDD1, SERINC1, SLC35F1, SMPDL3A, TBC1D32, TRAPPC3L, TRDN, TSPYL1, TSPYL4, VGLL2, ZUP1 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter likely pathogenic total
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1

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