ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis

Coded as:
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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
112 42 653 233 82 1101

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TPP1 35 9 129 40 20 233
CLN3 24 13 118 48 9 210
CLN6 13 4 126 42 19 190
CLN8 9 6 77 34 6 131
CTSD 0 1 81 37 10 129
CLN5, FBXL3 18 6 51 6 5 84
CLN5 5 2 40 9 6 60
DNAJC5 1 0 27 17 7 52
PPT1 6 1 1 0 0 8
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, FAM160A2, 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, CLN3, IL27, NUPR1, SGF29, SULT1A2 1 0 0 0 0 1
CLN8, LOC101927752 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 98 27 598 224 77 1024
Illumina Clinical Services Laboratory,Illumina 0 0 57 9 7 73
Mendelics 8 9 2 1 3 23
Integrated Genetics/Laboratory Corporation of America 12 6 0 0 0 18
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

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