ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis

Coded as:
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
353 141 1251 1712 94 3487

Gene and significance breakdown #

Total genes and gene combinations: 29
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CLN3 97 41 298 478 15 915
CLN6 60 24 230 316 24 629
CTSD 23 8 172 296 16 514
CLN5 69 15 190 196 13 472
CLN8 46 15 195 210 7 463
DNAJC5 1 0 77 109 11 198
CLN5, LOC130009913 10 4 34 58 4 108
CTSD, PRADX 3 3 38 44 3 91
TPP1 20 12 1 0 1 33
PPT1 12 5 1 0 0 18
CTSD, LOC130005119 0 0 9 5 0 14
CTSF 1 5 0 0 0 6
MFSD8 3 3 0 0 0 6
KCTD7 1 3 0 0 0 4
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 2 0 0 2
AAGAB, C15orf61, CALML4, CLN6, CORO2B, DIS3L, FEM1B, IQCH, ITGA11, LCTL, MAP2K1, MAP2K5, MEGF11, PIAS1, RAB11A, RNU6-1, RPL4, SKOR1, SMAD3, SMAD6, SNAPC5, TIPIN, ZWILCH 0 0 1 0 0 1
ABHD18, MFSD8 0 1 0 0 0 1
AP2A2, ASCL2, BRSK2, C11orf21, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM10, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PHRF1, PIDD1, PNPLA2, POLR2L, RASSF7, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 0 0 1 0 0 1
APBB1, ARFIP2, C11orf42, CAVIN3, CCKBR, CNGA4, DNHD1, FHIP1B, HPX, ILK, OR52B2, OR52E4, OR52E6, OR52E8, OR52L1, OR52N1, OR52N2, OR52N4, OR52N5, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, RRP8, SMPD1, TAF10, TIMM10B, TPP1, TRIM22, TRIM3 0 0 1 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, GSG1L, GTF3C1, IL21R, IL27, KATNIP, LAT, NFATC2IP, NPIPB6, NUPR1, RABEP2, SBK1, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM, XPO6 1 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, NUPR1, RABEP2, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 1
APOBR, CLN3, IL27, LOC126862326, LOC130058727, LOC130058728, LOC130058729, LOC130058730, NUPR1, SGF29, SULT1A2 1 0 0 0 0 1
ARHGEF10, CLN8 1 0 0 0 0 1
CLN5, EDNRB, FBXL3, MYCBP2, SCEL, SLAIN1 1 0 0 0 0 1
CLN5, LOC126861804, LOC130009913 1 0 0 0 0 1
CTSD, H19, LSP1, MRPL23, SYT8, TNNI2, TNNT3 0 0 1 0 0 1
GNE 0 1 0 0 0 1
LOC130005207, TPP1 1 0 0 0 0 1
MEFV 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 309 78 1180 1702 88 3357
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 58 55 0 0 0 113
Natera, Inc. 9 2 80 8 8 107
Illumina Laboratory Services, Illumina 0 0 57 9 7 73
Mendelics 8 8 2 1 3 22
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 8 0 1 0 0 9
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.