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
374 150 1260 1819 96 3638

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 102 39 297 508 15 950
CLN6 63 25 229 337 25 655
CTSD 24 9 172 323 16 543
CLN5 70 15 193 209 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 15 1 0 2 39
PPT1 14 5 1 0 0 20
CTSD, LOC130005119 0 0 9 5 0 14
MFSD8 4 6 0 0 0 10
CTSF 2 7 0 0 0 9
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: 9
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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 70 60 0 0 0 130
Natera, Inc. 9 2 80 8 8 107
Illumina Laboratory Services, Illumina 0 0 55 9 7 71
Mendelics 8 8 2 1 3 22
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 8 0 1 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 1 1 8
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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