DIS3L2 Chromosome 2

DIS3 like 3'-5' exoribonuclease 2
142 variants 142 Health Risk

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What This Gene Does
The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000144535
Associated Conditions (7)
Perlman syndrome
Sarcoma
Cervical cancer
DIS3L2-related disorder
Inborn genetic diseases
Nephroblastoma
Familial cancer of breast
Key Variants
RS114804860
Conflicting classifications of pathogenicity
Perlman syndrome, Sarcoma, Cervical cancer
Health Risk
RS116327839
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS1283433476
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS141560952
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS143680532
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS148106618
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS1489037110
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS186340144
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS186865544
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS187563594
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS187677159
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS191608083
Conflicting classifications of pathogenicity
Perlman syndrome, Inborn genetic diseases, Perlman syndrome
Health Risk
All Variants (142)
RSID Category Clinical Significance Conditions
RS114804860 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Sarcoma, Cervical cancer
RS116327839 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS1283433476 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS141560952 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS143680532 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS148106618 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS1489037110 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS186340144 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS186865544 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS187563594 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS187677159 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS191608083 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS200027186 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS200386096 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS201020526 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS201117797 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS201279487 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS201719374 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS201733073 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, DIS3L2-related disorder
RS202042951 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS202059499 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS202227137 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS2106355380 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS2697798 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS368022190 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS368518323 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS369113667 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS370165461 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS371477071 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS371864654 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS372209368 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS372560799 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS374738789 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS375517001 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS376299829 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS377644356 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS539081624 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS540563766 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS547016377 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS565049855 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS567611268 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS747739911 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
RS748787779 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS752820747 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS754433044 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS758366698 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS760229466 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS760824995 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases, Perlman syndrome
RS764758535 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS773602107 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
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