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
372 147 1261 1819 95 3632

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CLN3 101 39 298 508 15 949
CLN6 63 25 230 337 25 655
CTSD 24 9 172 323 16 543
CLN5 70 15 192 209 13 488
CLN8 49 16 197 213 7 472
DNAJC5 1 0 83 116 11 211
CLN5, LOC130009913 11 4 34 60 4 111
CTSD, PRADX 4 4 38 48 3 97
TPP1 22 14 1 0 1 37
PPT1 13 5 1 0 0 19
CTSD, LOC130005119 0 0 9 5 0 14
MFSD8 4 5 0 0 0 9
CTSF 2 6 0 0 0 8
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
LOC130005207, TPP1 1 0 0 0 0 1
MEFV 0 1 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
Labcorp Genetics (formerly Invitae), Labcorp 323 82 1190 1809 89 3493
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 68 57 0 0 0 125
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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