ClinVar Miner

Variants studied for ACD-related telomere biology disorder

Included ClinVar conditions (2):
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 not provided total
4 2 347 209 17 3 577

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACD 4 1 290 190 17 3 501
ACD, LOC130059224 0 1 56 19 0 0 75
AARS1, ACD, AGRP, AP1G1, ATP6V0D1, ATXN1L, B3GNT9, BEAN1, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH16, CDH3, CDH5, CENPT, CES2, CES3, CES4A, CHST4, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, COG4, COG8, CTCF, CTRL, CYB5B, DDX19A, DDX19B, DDX28, DHODH, DHX38, DPEP2, DPEP3, DUS2, DYNC1LI2, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, GFOD2, HAS3, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, LCAT, LOC400541, LRRC29, LRRC36, MARVELD3, MATCAP1, MIR140, MIR328, MTSS2, NAE1, NFAT5, NFATC3, NIP7, NOB1, NOL3, NQO1, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PRMT7, PSKH1, PSMB10, RANBP10, RIPOR1, RRAD, SF3B3, SLC12A4, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNTB2, ST3GAL2, TANGO6, TAT, TERB1, TERF2, THAP11, TK2, TMED6, TMEM208, TPPP3, TRADD, TSNAXIP1, TXNL4B, UTP4, VAC14, VPS4A, WWP2, ZDHHC1, ZFP90, ZNF19, ZNF23, ZNF821 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 344 209 17 0 571
Genome-Nilou Lab 0 0 0 0 11 0 11
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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