ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis

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 total
338 139 1248 1712 94 3466

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CLN3 91 40 298 478 15 908
CLN6 57 24 230 316 24 626
CTSD 23 9 172 296 16 514
CLN5 66 15 190 196 13 469
CLN8 44 15 195 210 7 461
DNAJC5 1 0 76 109 11 197
CLN5, LOC130009913 10 4 34 58 4 108
CTSD, PRADX 3 3 38 44 3 91
TPP1 19 12 1 0 1 32
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
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
LOC130005207, TPP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 296 77 1177 1702 88 3340
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 54 54 0 0 0 108
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

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