Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11200
Gene name Gene Name - the full gene name approved by the HGNC.	Checkpoint kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHEK2
Synonyms (NCBI Gene) Gene synonyms aliases	CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53, TPDS4, hCds1
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a fo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs17879961	A>C,G	Conflicting-interpretations-of-pathogenicity, not-provided, risk-factor, pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs17882942	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs17883172	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs17883862	G>A,C,T	Uncertain-significance, likely-benign, pathogenic, benign-likely-benign	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs28909980	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs28909982	T>C	Likely-pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs72552322	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs77130927	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs121908698	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs121908700	A>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs121908701	C>T	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs121908702	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs121908706	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121908707	C>A,G,T	Pathogenic, not-provided, likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs121908710	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant
rs137853007	G>A,C,T	Pathogenic, uncertain-significance, not-provided, likely-benign, likely-pathogenic	5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs137853008	C>A	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs137853009	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs137853010	G>A,C	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs137853011	G>A	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs139366548	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141568342	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs142763740	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs143965148	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200050883	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200432447	G>A,C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs200649225	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs200917541	G>A,T	Uncertain-significance, likely-benign, pathogenic	Stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs200928781	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201084748	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs371418985	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, stop gained, coding sequence variant
rs374938148	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, synonymous variant, intron variant, coding sequence variant
rs376736188	G>A,C	Pathogenic, uncertain-significance, not-provided	Non coding transcript variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs536907995	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, not-provided	Non coding transcript variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs540635787	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs544216926	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs545982789	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs555607708	G>-	Pathogenic, uncertain-significance, risk-factor, not-provided	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs560596101	A>C,G,T	Pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs562517792	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs575910805	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, risk-factor	Non coding transcript variant, intron variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs587780169	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs587780170	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587780171	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs587780173	A>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs587780174	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587780179	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587780181	TTCTTGGTCCTCAGG>-,TTCTTGGTCCTCAGGTTCTTGGTCCTCAGG	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, genic upstream transcript variant, inframe insertion, coding sequence variant, 5 prime UTR variant, inframe deletion
rs587780183	A>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587780184	->A	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587780186	C>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587780192	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587781269	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs587781279	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs587781379	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs587781592	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs587781699	C>A,G,T	Likely-pathogenic	Intron variant, splice donor variant
rs587781705	A>C	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs587781836	A>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs587782008	TCT>-	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs587782070	C>T	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs587782245	T>-	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587782401	A>G,T	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs587782471	A>G,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs587782489	C>A,G	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs587782541	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587782575	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587782707	->TC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587782766	G>-	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587782830	C>G,T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, intron variant, genic upstream transcript variant
rs587782840	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs587782849	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs730881687	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs730881699	T>-	Pathogenic	Non coding transcript variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs730881700	->T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs730881701	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs730881702	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs748005072	A>-	Pathogenic, pathogenic-likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs749153163	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs749257861	->G	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs749963436	C>A,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs750616657	->TGAT	Pathogenic	Initiator codon variant, non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs751653049	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs753159426	A>-	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs753972711	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs756131136	CTGA>-	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs756250205	G>A,C,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs757016287	ATCCGAC>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs758677815	G>-,GG,GGG,GGGG	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, inframe insertion, coding sequence variant, genic downstream transcript variant
rs759706360	C>G,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs760502479	G>T	Pathogenic	Non coding transcript variant, intron variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs761494650	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs764884641	TTAC>-	Uncertain-significance, likely-pathogenic	Splice donor variant, intron variant
rs765080766	C>A,G,T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs765664259	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs766158073	T>C	Likely-pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant, intron variant
rs766416564	ATAGA>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs767253467	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs768172525	C>A,T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice donor variant, intron variant
rs768384031	G>A,T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs768973809	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs769430546	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs769819013	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, 5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs772683219	AA>-,A,AAA	Pathogenic	Frameshift variant, coding sequence variant, intron variant, stop gained
rs773955899	C>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs774175654	C>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs774831804	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs775167943	AG>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs778989252	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs779844113	A>C,G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs781021132	A>G	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs786201896	T>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs786201906	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs786202497	C>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs786202601	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs786202676	T>A,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs786203031	ACTCCAGCAGTCCACA>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs786203053	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786203229	C>A,G,T	Uncertain-significance, likely-pathogenic	Splice acceptor variant, intron variant, genic upstream transcript variant
rs786203355	C>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs786203458	A>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs786203650	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs786203889	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs786203977	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, missense variant, initiator codon variant, coding sequence variant, genic upstream transcript variant
rs796389290	T>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs864622149	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs864622453	->TTCT	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs864622613	C>A,G	Likely-pathogenic	Splice acceptor variant, upstream transcript variant, genic upstream transcript variant
rs876658302	A>-,AA	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs876658646	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs876659250	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs876659287	C>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs876659422	GTAAAACGTGCC>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs876659519	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, stop gained
rs876659639	T>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs876659833	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs876659838	TCTAAA>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs876660801	AC>-	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs876661050	G>-	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs876661156	G>-,GG	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs878854909	G>A	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs878854912	T>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs878854913	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, downstream transcript variant, missense variant, coding sequence variant
rs878854917	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs878854926	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs886039512	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs886039609	AA>-,A,AAA	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886039629	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs886039631	G>A,T	Likely-pathogenic, likely-benign	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039721	C>A,T	Likely-pathogenic	Splice acceptor variant
rs886039731	T>-	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039739	A>C,T	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant, stop gained
rs886041455	->C	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs899211928	G>A,T	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs905674348	G>A,C	Likely-benign, pathogenic	Upstream transcript variant, coding sequence variant, synonymous variant, stop gained, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs911826883	G>T	Pathogenic	Upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs948928965	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs1057517596	C>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1057522814	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant, downstream transcript variant
rs1060502684	AG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1060502687	TT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1060502688	G>A	Uncertain-significance, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1060502698	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060502710	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1060502716	C>A,G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060502722	T>C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs1064793566	TATA>-	Pathogenic	Intron variant, downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1064793780	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, upstream transcript variant, non coding transcript variant, splice donor variant, genic upstream transcript variant
rs1064793817	G>A	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1064794870	G>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1064794965	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1064795487	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1064795959	A>-	Likely-pathogenic, pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1064796016	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1064796572	C>A,G,T	Uncertain-significance, pathogenic	Downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131691044	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131691045	C>-	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1160973224	T>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1199577809	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1214213337	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1225437533	T>-	Pathogenic	Stop gained, intron variant, coding sequence variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1231012263	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1233699096	A>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant, stop gained
rs1248967885	A>C,G	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs1250779080	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1293617484	TAAGAAGAGGGGG>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1298667185	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1342011335	T>-,TT	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1346554630	CA>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant
rs1349961118	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant, stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1390889028	TAATA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1420382294	C>A	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1422634212	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1474786480	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1483241325	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555911635	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555911636	->A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555911638	CTGAAAATAAAGG>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1555911640	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555912001	->G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555912044	GAAGA>-,GA	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555912060	AC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913078	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913094	TT>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913106	C>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1555913410	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913464	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913493	TT>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913494	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1555913631	A>G	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs1555913632	A>-	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs1555913645	TAACTCCTA>CTCCT	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant
rs1555913672	ACAGCACGGTTATACCCAGCAGTCC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs1555913881	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913894	->G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913934	AG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555913941	T>-	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555914279	G>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1555914382	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, downstream transcript variant, splice acceptor variant
rs1555915295	A>C	Likely-pathogenic	Splice donor variant
rs1555915298	C>A,T	Likely-pathogenic	Splice donor variant
rs1555915392	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555915409	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555915433	C>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs1555915491	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555915589	T>C	Likely-pathogenic	Splice acceptor variant
rs1555916968	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555916987	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555917031	G>A,T	Pathogenic, likely-benign, likely-pathogenic	Synonymous variant, intron variant, coding sequence variant, stop gained
rs1555917041	TAAGAAGAGGGGG>CC	Uncertain-significance, likely-pathogenic	Intron variant, splice acceptor variant
rs1555920142	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555920257	T>C	Likely-pathogenic	Splice acceptor variant
rs1555921011	C>T	Likely-pathogenic	Splice donor variant
rs1555921143	->GGCTACTT	Likely-pathogenic	Non coding transcript variant, inframe indel, coding sequence variant, stop gained
rs1555921290	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555921323	CACAGGCACCACTAGAGG>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1555921327	->GGAG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555924538	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555926975	ATGTAAGAGTTTTTAGGACCCA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555926996	G>A,T	Pathogenic, likely-benign	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, synonymous variant
rs1555927038	C>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927137	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927148	A>-,AA	Pathogenic, likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927165	T>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927291	G>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1555927302	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555927312	CA>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, inframe indel, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1555927374	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1555927398	CA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1555932071	ATCC>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932116	C>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932231	G>-,GG	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932326	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1555932341	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1555932344	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932481	->ACTG	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932518	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932583	ATATGCCCTGG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932735	CCTTG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555932877	G>C	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1555932913	->G	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569111699	TT>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569112324	->G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569113653	->ACAAGAA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs1569114113	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569115687	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, downstream transcript variant, splice donor variant
rs1569116316	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1569120831	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1569121048	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1569121172	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1569127917	CTACTTAC>AA	Likely-pathogenic	Intron variant, splice donor variant
rs1569149953	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1569150017	A>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569157733	C>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1569158075	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice acceptor variant
rs1569158640	CT>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1569158776	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1569170839	TGAG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569171106	TGCTGGTAGAGGAGCT>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601702086	C>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601715755	A>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1601715865	->C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601716482	A>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1601719186	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1601719250	TT>-	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601719287	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601719328	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601719449	TG>GT	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1601720308	AAGGCTTAATATTGGTAGAGAGAGAAAG>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1601723175	ATGAGAGAGG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1601727022	G>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1601727263	TGTATAATACCGTTTT>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1601738338	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601738571	->AGGTAGC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601738999	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601752050	T>A	Likely-pathogenic	Intron variant
rs1601752066	A>G	Likely-pathogenic	Intron variant, splice donor variant
rs1601753141	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1601777275	A>G	Likely-pathogenic	Splice donor variant
rs1601783375	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1601783879	C>TTAAA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601784008	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1601805632	C>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1601822717	A>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice donor variant
rs1601822722	C>G,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice donor variant
rs1601823036	->TCAATTTCAGAATTGTTATTCAAAGG	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, inframe indel, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1601823546	->T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601824130	TAAG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601824270	A>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601825829	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1601851248	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601851875	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601852451	T>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1601853112	A>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, synonymous variant
rs1601853585	GGACTGGG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all(374)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437458	hsa-miR-182-5p	Luciferase reporter assay	23249749
MIRT502867	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT502862	hsa-miR-4803	PAR-CLIP	20371350
MIRT502861	hsa-miR-595	PAR-CLIP	20371350
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT502859	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT502858	hsa-miR-5694	PAR-CLIP	20371350
MIRT502857	hsa-miR-6074	PAR-CLIP	20371350
MIRT502856	hsa-miR-5697	PAR-CLIP	20371350
MIRT502855	hsa-miR-8068	PAR-CLIP	20371350
MIRT502854	hsa-miR-1297	PAR-CLIP	20371350
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT502851	hsa-miR-4465	PAR-CLIP	20371350
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT502849	hsa-miR-2053	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548922	hsa-miR-548n	PAR-CLIP	20371350
MIRT568101	hsa-miR-548an	PAR-CLIP	20371350
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT548920	hsa-miR-548ab	PAR-CLIP	20371350
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT548917	hsa-miR-548ak	PAR-CLIP	20371350
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT548904	hsa-miR-548i	PAR-CLIP	20371350
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT548901	hsa-miR-548w	PAR-CLIP	20371350
MIRT548900	hsa-miR-548y	PAR-CLIP	20371350
MIRT548899	hsa-miR-559	PAR-CLIP	20371350
MIRT568100	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT568099	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT548891	hsa-miR-3666	PAR-CLIP	20371350
MIRT548890	hsa-miR-4295	PAR-CLIP	20371350
MIRT548889	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	20371350
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	20371350
MIRT548886	hsa-miR-5695	PAR-CLIP	20371350
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT548880	hsa-miR-548aw	PAR-CLIP	20371350
MIRT548878	hsa-miR-2113	PAR-CLIP	20371350
MIRT548879	hsa-miR-548q	PAR-CLIP	20371350
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT558798	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT558797	hsa-miR-3919	PAR-CLIP	21572407
MIRT558796	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT558795	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548922	hsa-miR-548n	PAR-CLIP	21572407
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT548920	hsa-miR-548ab	PAR-CLIP	21572407
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT548917	hsa-miR-548ak	PAR-CLIP	21572407
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT548904	hsa-miR-548i	PAR-CLIP	21572407
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT548901	hsa-miR-548w	PAR-CLIP	21572407
MIRT548900	hsa-miR-548y	PAR-CLIP	21572407
MIRT548899	hsa-miR-559	PAR-CLIP	21572407
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548891	hsa-miR-3666	PAR-CLIP	21572407
MIRT548890	hsa-miR-4295	PAR-CLIP	21572407
MIRT548889	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	21572407
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	21572407
MIRT548886	hsa-miR-5695	PAR-CLIP	21572407
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548880	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548878	hsa-miR-2113	PAR-CLIP	21572407
MIRT548879	hsa-miR-548q	PAR-CLIP	21572407
MIRT538585	hsa-miR-7153-3p	PAR-CLIP	22012620
MIRT538586	hsa-miR-3680-5p	PAR-CLIP	22012620
MIRT538584	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT502867	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT502862	hsa-miR-4803	PAR-CLIP	24398324
MIRT502861	hsa-miR-595	PAR-CLIP	24398324
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	24398324
MIRT502859	hsa-miR-383-5p	PAR-CLIP	24398324
MIRT502858	hsa-miR-5694	PAR-CLIP	24398324
MIRT502857	hsa-miR-6074	PAR-CLIP	24398324
MIRT502856	hsa-miR-5697	PAR-CLIP	24398324
MIRT502855	hsa-miR-8068	PAR-CLIP	24398324
MIRT502854	hsa-miR-1297	PAR-CLIP	24398324
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT502851	hsa-miR-4465	PAR-CLIP	24398324
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT502849	hsa-miR-2053	PAR-CLIP	24398324
MIRT502867	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT502862	hsa-miR-4803	PAR-CLIP	20371350
MIRT502861	hsa-miR-595	PAR-CLIP	20371350
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT502859	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT502858	hsa-miR-5694	PAR-CLIP	20371350
MIRT502857	hsa-miR-6074	PAR-CLIP	20371350
MIRT502856	hsa-miR-5697	PAR-CLIP	20371350
MIRT502855	hsa-miR-8068	PAR-CLIP	20371350
MIRT502854	hsa-miR-1297	PAR-CLIP	20371350
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT502851	hsa-miR-4465	PAR-CLIP	20371350
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	20371350
MIRT502849	hsa-miR-2053	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT548922	hsa-miR-548n	PAR-CLIP	20371350
MIRT568101	hsa-miR-548an	PAR-CLIP	20371350
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT548920	hsa-miR-548ab	PAR-CLIP	20371350
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT548917	hsa-miR-548ak	PAR-CLIP	20371350
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT548904	hsa-miR-548i	PAR-CLIP	20371350
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT548901	hsa-miR-548w	PAR-CLIP	20371350
MIRT548900	hsa-miR-548y	PAR-CLIP	20371350
MIRT548899	hsa-miR-559	PAR-CLIP	20371350
MIRT568100	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT568099	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT548891	hsa-miR-3666	PAR-CLIP	20371350
MIRT548890	hsa-miR-4295	PAR-CLIP	20371350
MIRT548889	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	20371350
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	20371350
MIRT548886	hsa-miR-5695	PAR-CLIP	20371350
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT548880	hsa-miR-548aw	PAR-CLIP	20371350
MIRT548878	hsa-miR-2113	PAR-CLIP	20371350
MIRT548879	hsa-miR-548q	PAR-CLIP	20371350
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT558798	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT558797	hsa-miR-3919	PAR-CLIP	21572407
MIRT558796	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT558795	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT502867	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT502862	hsa-miR-4803	PAR-CLIP	21572407
MIRT502861	hsa-miR-595	PAR-CLIP	21572407
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT502859	hsa-miR-383-5p	PAR-CLIP	21572407
MIRT502858	hsa-miR-5694	PAR-CLIP	21572407
MIRT502857	hsa-miR-6074	PAR-CLIP	21572407
MIRT502856	hsa-miR-5697	PAR-CLIP	21572407
MIRT502855	hsa-miR-8068	PAR-CLIP	21572407
MIRT502854	hsa-miR-1297	PAR-CLIP	21572407
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT502851	hsa-miR-4465	PAR-CLIP	21572407
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT502849	hsa-miR-2053	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548924	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT548923	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT548922	hsa-miR-548n	PAR-CLIP	21572407
MIRT548921	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT548920	hsa-miR-548ab	PAR-CLIP	21572407
MIRT548919	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT548918	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT548917	hsa-miR-548ak	PAR-CLIP	21572407
MIRT548916	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT548915	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT548914	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT548913	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT548912	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT548911	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT548910	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT548909	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT548908	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT548907	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT548906	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT548905	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT548904	hsa-miR-548i	PAR-CLIP	21572407
MIRT548903	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT548902	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT548901	hsa-miR-548w	PAR-CLIP	21572407
MIRT548900	hsa-miR-548y	PAR-CLIP	21572407
MIRT548899	hsa-miR-559	PAR-CLIP	21572407
MIRT548898	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT548897	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT548896	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT548895	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT548894	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT548893	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT548892	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT548891	hsa-miR-3666	PAR-CLIP	21572407
MIRT548890	hsa-miR-4295	PAR-CLIP	21572407
MIRT548889	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT548888	hsa-miR-6736-3p	PAR-CLIP	21572407
MIRT548887	hsa-miR-3691-3p	PAR-CLIP	21572407
MIRT548886	hsa-miR-5695	PAR-CLIP	21572407
MIRT548885	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT548884	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT548883	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT548882	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT548881	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548880	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548878	hsa-miR-2113	PAR-CLIP	21572407
MIRT548879	hsa-miR-548q	PAR-CLIP	21572407
MIRT538585	hsa-miR-7153-3p	PAR-CLIP	22012620
MIRT538586	hsa-miR-3680-5p	PAR-CLIP	22012620
MIRT538584	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT502867	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT502866	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT502865	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT502864	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT502863	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT502862	hsa-miR-4803	PAR-CLIP	24398324
MIRT502861	hsa-miR-595	PAR-CLIP	24398324
MIRT502860	hsa-miR-376c-3p	PAR-CLIP	24398324
MIRT502859	hsa-miR-383-5p	PAR-CLIP	24398324
MIRT502858	hsa-miR-5694	PAR-CLIP	24398324
MIRT502857	hsa-miR-6074	PAR-CLIP	24398324
MIRT502856	hsa-miR-5697	PAR-CLIP	24398324
MIRT502855	hsa-miR-8068	PAR-CLIP	24398324
MIRT502854	hsa-miR-1297	PAR-CLIP	24398324
MIRT502853	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT502852	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT502851	hsa-miR-4465	PAR-CLIP	24398324
MIRT502850	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT502849	hsa-miR-2053	PAR-CLIP	24398324
MIRT2502783	hsa-miR-3163	CLIP-seq
MIRT2502784	hsa-miR-3938	CLIP-seq
MIRT2502785	hsa-miR-4797-5p	CLIP-seq
MIRT2502786	hsa-miR-759	CLIP-seq
MIRT2502787	hsa-miR-944	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
E2F1	Activation	15024084
MYC	Activation	23269272
TP53	Repression	10531348

Show/Hide all(77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	37943659
GO:0000045	Process	Autophagosome assembly	IMP	22170151
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0000077	Process	DNA damage checkpoint signaling	TAS	9889122, 10617473
GO:0000086	Process	G2/M transition of mitotic cell cycle	IMP	16481012
GO:0000166	Function	Nucleotide binding	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	15149599
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12717439, 16794575, 37943659
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9836640
GO:0005515	Function	Protein binding	IPI	11298456, 12402044, 12493754, 15380617, 16477038, 17157788, 17380128, 17525332, 18644861, 18667510, 18971944, 20126263, 21070773, 22046132, 23178491, 24825908, 25640309, 25749521, 34591612, 37219487, 39009827
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	18317453
GO:0006302	Process	Double-strand break repair	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	12717439
GO:0006468	Process	Protein phosphorylation	IDA	12717439, 18833288
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IDA	24550317
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	16481012
GO:0006974	Process	DNA damage response	TAS	9836640, 9889122
GO:0006979	Process	Response to oxidative stress	IDA	37943659
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	12402044
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	12717439, 18644861
GO:0010332	Process	Response to gamma radiation	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016605	Component	PML body	IDA	12402044
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	16481012
GO:0030163	Process	Protein catabolic process	IMP	11298456
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	TAS
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IMP	11298456
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	22266820
GO:0033554	Process	Cellular response to stress	IDA	37943659
GO:0033554	Process	Cellular response to stress	IDA	37943659
GO:0042176	Process	Regulation of protein catabolic process	IMP	17101782
GO:0042594	Process	Response to starvation	IDA	37943659
GO:0042770	Process	Signal transduction in response to DNA damage	IDA	14744935
GO:0042770	Process	Signal transduction in response to DNA damage	IEA
GO:0042770	Process	Signal transduction in response to DNA damage	IEA
GO:0042770	Process	Signal transduction in response to DNA damage	IMP	11298456
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA
GO:0042802	Function	Identical protein binding	IPI	16794575, 18239682
GO:0042803	Function	Protein homodimerization activity	IDA	16794575
GO:0044773	Process	Mitotic DNA damage checkpoint signaling	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17101782
GO:0046777	Process	Protein autophosphorylation	IDA	16794575, 18644861
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IDA	12717439, 18833288
GO:0051301	Process	Cell division	IEA
GO:0070242	Process	Thymocyte apoptotic process	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	37943659
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0090307	Process	Mitotic spindle assembly	IMP	20364141
GO:0090399	Process	Replicative senescence	NAS	15149599
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1903416	Process	Response to glycoside	IEA
GO:1903926	Process	Cellular response to bisphenol A	IEA
GO:2000002	Process	Negative regulation of DNA damage checkpoint	IEA
GO:2000210	Process	Positive regulation of anoikis	IEA
GO:2000785	Process	Regulation of autophagosome assembly	IDA	37943659
GO:2000786	Process	Positive regulation of autophagosome assembly	IDA	37943659

MIM	HGNC	e!Ensembl
604373	16627	ENSG00000183765

Protein

UniProt ID

O96017

Protein name

Serine/threonine-protein kinase Chk2 (EC 2.7.11.1) (CHK2 checkpoint homolog) (Cds1 homolog) (Hucds1) (hCds1) (Checkpoint kinase 2)

Protein function

Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression duri

PDB

1GXC , 2CN5 , 2CN8 , 2W0J , 2W7X , 2WTC , 2WTD , 2WTI , 2WTJ , 2XBJ , 2XK9 , 2XM8 , 2XM9 , 2YCF , 2YCQ , 2YCR , 2YCS , 2YIQ , 2YIR , 2YIT , 3I6U , 3I6W , 3VA4 , 4A9R , 4A9S , 4A9T , 4A9U , 4BDA , 4BDB , 4BDC , 4BDD , 4BDE , 4BDF , 4BDG , 4BDH , 4BDI , 4BDJ , 4BDK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00498	FHA	113 → 192	FHA domain	Family
PF00069	Pkinase	220 → 486	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: High expression is found in testis, spleen, colon and peripheral blood leukocytes. Low expression is found in other tissues.

Sequence

MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTL
SSLETVSTQELYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKS
CEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKR
RPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIV
LELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEE
DCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFIC
LSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEA
LRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCA
AVL

Sequence length

543

Interactions

View interactions

	KEGG		Reactome
	Cell cycle p53 signaling pathway Cellular senescence Human T-cell leukemia virus 1 infection		Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Methylation G2/M DNA damage checkpoint Stabilization of p53 Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex

Show/Hide Causal Diseases (13)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Breast Cancer	Malignant tumor of breast	rs28909982, rs1474786480, rs587782245, rs864622613, rs121908698, rs587782401, rs72552322, rs766416564, rs587781269, rs200928781, rs786203650, rs137853007	N/A
Breast Carcinoma	breast carcinoma	rs878854926, rs121908698, rs587782849, rs536907995	N/A
colorectal cancer	Colorectal cancer	rs121908702, rs587780183, rs376736188, rs748005072	N/A
gastric cancer	Gastric cancer	rs1298667185, rs1555921011, rs1601753141, rs1060502716, rs200432447	N/A
Li-Fraumeni Syndrome	li-fraumeni syndrome 2, li-fraumeni syndrome, li-fraumeni syndrome 1	rs200928781, rs786203889, rs137853007, rs28909982, rs786203458, rs786201896, rs587782471, rs555607708, rs121908707, rs786203650, rs905674348, rs864622149, rs587782849, rs1555932341, rs536907995 View all (7 more)	N/A
Ovarian cancer	Familial ovarian cancer	rs536907995	N/A
Astrocytoma	astrocytoma	rs555607708	N/A
Carcinoma	carcinoma	rs555607708	N/A
Diffuse Lymphoma	Malignant lymphoma, large B-cell, diffuse	rs1569115687	N/A
neoplasm	Neoplasm	rs786203650	N/A
Nephroblastoma	nephroblastoma	rs1555913934	N/A
premature ovarian failure	Premature ovarian failure	rs200928781	N/A
Sarcoma	sarcoma	rs1555927374	N/A

Show/Hide Unknown Diseases (11)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colonic Neoplasms	Colonic neoplasm	N/A	N/A	ClinVar
Endometrial carcinoma	endometrial carcinoma	N/A	N/A	ClinVar
Glaucoma	Glaucoma	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Hypertension	Essential hypertension (time to event)	N/A	N/A	GWAS
Myeloid Leukemia	acute myeloid leukemia	N/A	N/A	GenCC
Prostate Cancer	prostate cancer, somatic	N/A	N/A	ClinVar
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Triple Negative Breast Neoplasms	Triple-negative breast cancer	N/A	N/A	ClinVar
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (186)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	32693840
Adenomatous Polyposis Coli	Associate	35128723
Adrenocortical Carcinoma	Associate	30413320
Alzheimer Disease	Associate	23550703
Amyotrophic Lateral Sclerosis	Associate	31575382
Arthritis Rheumatoid	Associate	15818671
Arthritis Rheumatoid	Inhibit	22183962
Ataxia Telangiectasia	Stimulate	11390408
Ataxia Telangiectasia	Associate	12576328, 12855706, 12909615, 15192702, 17715138, 23638118, 25032865, 39638147
Atherosclerosis	Associate	27740938
Atypical Squamous Cells of the Cervix	Stimulate	31337963
Autism Spectrum Disorder	Associate	35773312
Bloom Syndrome	Associate	17634426
Brain Neoplasms	Associate	24767714, 28497333, 39273420
Breast Neoplasms	Associate	12052256, 12094328, 12454775, 12529183, 12610780, 12690581, 14661035, 14701743, 14970869, 15122511, 15466005, 15492928, 15535844, 15700044, 16539695 View all (183 more)
Breast Neoplasms	Inhibit	16452195, 27484185
Breast Neoplasms	Stimulate	26534844, 30128536, 32091585, 33471974
Breast Neoplasms Male	Associate	15535844, 18797466, 28008555, 28808232, 28874143, 34461861, 38609177
Breast Neoplasms Male	Stimulate	39889220
Calcinosis Cutis	Associate	21542898, 32811538, 36446039
Carcinogenesis	Associate	27716909, 29486482, 37161532
Carcinoma Basal Cell	Associate	30089731
Carcinoma Ductal	Associate	38091153
Carcinoma Ductal Breast	Associate	28514723
Carcinoma Embryonal	Associate	19259937
Carcinoma Hepatocellular	Associate	22623962, 30473536, 35853969
Carcinoma in Situ	Associate	33919281
Carcinoma Intraductal Noninfiltrating	Associate	31060593, 31993860, 37839337
Carcinoma Merkel Cell	Associate	26981779
Carcinoma Non Small Cell Lung	Associate	15125777, 21077998, 30900384
Carcinoma Ovarian Epithelial	Associate	29020732, 30640700
Carcinoma Pancreatic Ductal	Associate	28726808, 36978154, 39793706
Carcinoma Renal Cell	Associate	27574806, 29978187, 33442023, 33789101, 34654685, 35441217, 37628581, 38081888
Carcinoma Squamous Cell	Associate	11875739, 18086786, 33162799
Cardiovascular Diseases	Associate	27740938
Central Nervous System Neoplasms	Associate	38139220
Chondrosarcoma	Associate	35017658
Chordoma	Associate	30322893
Chromosomal Instability	Associate	26831064
Chromosome Aberrations	Associate	36529819
Colonic Neoplasms	Associate	16905549
Colorectal Neoplasms	Associate	12052256, 15073169, 15492928, 16816021, 16905549, 17164383, 17214356, 18676774, 19401704, 20128802, 22294770, 24506336, 24865968, 24976383, 26318585 View all (14 more)
Colorectal Neoplasms	Stimulate	29870526
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	18676774, 29458332, 36356413, 37861889
Cyclic neutropenia	Associate	29866652
Death	Associate	23109706
Dendritic Cell Sarcoma Follicular	Associate	30508944
Diabetes Mellitus Type 2	Associate	19855918
Disease	Associate	32570972
DNA Repair Deficiency Disorders	Associate	36529819
DNA Virus Infections	Associate	24825908, 28698766, 29565449, 30760862, 30902968, 32988387, 35477182, 35563313, 35820368
Drug Hypersensitivity	Associate	16905549
Drug Related Side Effects and Adverse Reactions	Associate	15601819, 16931916, 20128802, 22687754, 23550703, 35430566
Embolic Stroke	Associate	37248226
Encephalitis Herpes Simplex	Associate	19881958, 20444961
Encephalitis Japanese	Associate	29868498
Endocrine Gland Neoplasms	Associate	32570972, 36440216
Endocrine System Diseases	Associate	37161532
Endometrial Neoplasms	Associate	21787115
Ependymoma	Associate	34716641
Esophageal Neoplasms	Associate	25450480, 38039548
Esophageal Squamous Cell Carcinoma	Associate	23504502, 25008389, 26039424, 26857264, 27734031, 30753320, 38039548
Familial medullary thyroid carcinoma	Associate	33692755
Fanconi Anemia	Inhibit	21765476
Fanconi Anemia	Associate	31349801
Fever	Stimulate	29901106
Glioblastoma	Associate	24532427, 28852018, 38272357
Glioma	Associate	31350984
HAIR AN syndrome	Stimulate	26943034
Head and Neck Neoplasms	Associate	23839309
Hemangioblastoma	Associate	26768750
Hematologic Diseases	Associate	35025619
Hematologic Neoplasms	Associate	36642751
Hepatitis E	Associate	22058216
Hereditary Breast and Ovarian Cancer Syndrome	Associate	14507240, 15217503, 23239986, 23300655, 24065469, 24549055, 24884479, 25629968, 26976419, 27067391, 27273131, 27779110, 29271107, 29479983, 29988077 View all (20 more)
Hyperoxia	Stimulate	15533933
Hypoxia	Associate	16478982
Immuno hemolytic anemia	Associate	24498068
Inflammation	Associate	27740938
Inflammatory Breast Neoplasms	Associate	30933323
Internal Hernia	Associate	34716641
Kidney Neoplasms	Associate	15492928, 32782288, 34499690, 36136322, 38002934
Leiomyosarcoma	Associate	28514723
Leukemia	Associate	35061527
Leukemia Biphenotypic Acute	Associate	33986034
Leukemia Lymphocytic Chronic B Cell	Associate	16574953
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	32053969, 40344211
Leukemia Myeloid Acute	Associate	12576328, 28340577, 34482403, 37450374
Leukemia Myelomonocytic Chronic	Associate	33986034
Leukemia Prolymphocytic T Cell	Associate	24825865
Leukemia Promyelocytic Acute	Associate	18482988, 28340577
Li Fraumeni Syndrome	Associate	11011113, 11053450, 12052256, 12094328, 27442652, 32900738, 39519042
Liver Failure	Associate	39519042
Lung Neoplasms	Inhibit	15125777
Lung Neoplasms	Associate	23652375, 24880342, 26943034, 27900359, 28843361, 31721094, 32457423, 33407425
Lymphoma	Associate	22058216, 24498068, 32504211
Lymphoma Large B Cell Diffuse	Inhibit	12393693
Lymphoma Large B Cell Diffuse	Associate	23960188, 26506619
Lymphoma Mantle Cell	Associate	12393693
Lymphoma Non Hodgkin	Associate	12393693, 18641004, 26506619
Malformations of Cortical Development Group I	Associate	20150440
Medulloblastoma	Associate	28383788
Meier Gorlin syndrome	Associate	30595439
Melanoma	Associate	10809772, 23940574, 24309508, 37628581
Meningioma	Associate	22355270
Mental Disorders	Associate	35773312
Mesothelioma	Associate	22905093, 37556141
Mesothelioma Malignant	Associate	34008015, 35032816
Meyenburg Altherr Uehlinger syndrome	Associate	30480775
Microsatellite Instability	Associate	17634426
Migraine Disorders	Associate	34113003
Multiple Endocrine Neoplasia	Associate	36440216
Multiple Myeloma	Associate	25609078, 32060401
Myelodysplastic Syndromes	Associate	17577921, 32217071
Myoclonic dystonia	Associate	35773312
Nasopharyngeal Carcinoma	Associate	29568064
Nemaline myopathy 5	Associate	34499690
Neoplasm Invasiveness	Associate	18641004, 33919281
Neoplasm Metastasis	Associate	15466005, 27574806, 38039548
Neoplasms	Associate	10531348, 10673500, 11053450, 11106755, 11875739, 12052256, 12393693, 12454775, 12654916, 12654917, 15044452, 15466005, 15492928, 15987456, 16790090 View all (128 more)
Neoplasms	Inhibit	12049740, 16317088, 16478982, 22355270, 22811390, 23161755, 24976383, 26573794, 26831064, 27484185, 28514723, 32217071, 35896598, 36770705, 36919124
Neoplasms Cystic Mucinous and Serous	Associate	22811390
Neoplasms Germ Cell and Embryonal	Associate	16790090, 25066726
Neoplasms Second Primary	Associate	26641009
Neoplasms Squamous Cell	Associate	24880342
Neoplastic Syndromes Hereditary	Associate	16790090, 26641009, 27083775, 28050010, 30580288, 31056428, 31993860, 32522261, 33827469, 35181726, 35456488, 36529819, 36916756, 40388595
Neuroblastoma	Associate	27009842, 29805983, 33384420, 35655142
Neuroendocrine Tumors	Associate	36440216
Nijmegen Breakage Syndrome	Associate	11438675
Non Muscle Invasive Bladder Neoplasms	Associate	31506803
Obesity	Associate	39256343
Osteosarcoma	Associate	24474250, 31269698
Ovarian Neoplasms	Associate	12052256, 15269203, 15535844, 17118344, 20386703, 20444961, 23806170, 24240112, 24879340, 26718727, 28497333, 29734760, 30769778, 30964716, 31186408 View all (12 more)
Pancreatic adenoma	Associate	36440216
Pancreatic Neoplasms	Associate	18381943, 19519883, 23855452, 25002126, 26483394, 27488870, 28199314, 29961768, 30419860, 32354656, 34620795, 36717774, 39256447, 39793706
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Peritonitis	Associate	32504035
Personality Disorders	Associate	12393693
Pheochromocytoma	Associate	36440216
Polycythemia Vera	Associate	31993860, 32609350, 33146377, 34793666, 38609177, 40288678
Polyposis Syndrome Hereditary Mixed 1	Associate	22586065
Polyps	Associate	18676774
Precancerous Conditions	Associate	18086786
Precancerous Conditions	Stimulate	21765476
Precancerous Conditions	Inhibit	27484185
Prodromal Symptoms	Associate	35256754
Prostate cancer familial	Associate	12533788, 14612911, 29659569
Prostatic Neoplasms	Associate	12533788, 14612911, 15280931, 15492928, 15961392, 17079449, 18507002, 18571837, 19401704, 23722471, 24079846, 26447757, 26573794, 27595995, 28657667 View all (22 more)
Prostatic Neoplasms Castration Resistant	Inhibit	26573794
Prostatic Neoplasms Castration Resistant	Associate	32086346, 36358026, 36653039
Prostatitis	Associate	15492928, 32570972, 38362852
Rare Diseases	Associate	23836555
Recombinant chromosome 8 syndrome	Associate	30293905, 33421217, 35737913, 36627197
Rectal Diseases	Associate	37664155
Rectal Neoplasms	Associate	29956755
Renal cell carcinoma 1	Associate	10673500
Respiratory Tract Infections	Associate	36818471
Rhabdomyosarcoma	Associate	34095712, 34128847
Rhabdomyosarcoma Alveolar	Associate	36232302
Sleep Deprivation	Associate	26336034
Squamous Cell Carcinoma of Head and Neck	Associate	18086786, 32753843, 35170694
Stomach Neoplasms	Associate	12052256, 26857264, 39793706
Sucrase isomaltase deficiency congenital	Inhibit	19165865
Telomeric 22q13 Monosomy Syndrome	Associate	26336104
Teratoma	Associate	16790090
Tertiary Lymphoid Structures	Associate	36360192
Testicular Germ Cell Tumor	Associate	30676620
Thrombocythemia Essential	Associate	22058216
Thyroid cancer follicular	Associate	21983636
Thyroid cancer medullary	Associate	33692755, 38279823
Thyroid Cancer Papillary	Associate	24599715, 25417114, 26320103, 29486482
Thyroid Neoplasms	Associate	15492928, 35174967, 38165228, 38279823
Thyroiditis	Associate	35174967, 36136322
Tongue Neoplasms	Associate	19331169
Translocation Genetic	Associate	26732650
Triple Negative Breast Neoplasms	Associate	26577449, 29761796, 35430566, 38520597, 40300663
Tuberculosis Extrapulmonary	Associate	34716641
Turcot syndrome	Associate	36360190
Unilateral Breast Neoplasms	Associate	18253122
Urethral Neoplasms	Associate	36818471
Urinary Bladder Neoplasms	Associate	34499690, 34964002, 35768832, 36451132, 36818471, 38326120
Urogenital Neoplasms	Associate	36451132
Uterine Cervical Dysplasia	Associate	19668150
Uterine Cervical Neoplasms	Associate	32546626
von Hippel Lindau Disease	Associate	28199314, 37843608
Wilms Tumor	Associate	28825729, 35230882, 40340749

CHEK2 (checkpoint kinase 2)