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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11200
Gene name	Checkpoint kinase 2
Gene symbol	CHEK2
Synonyms (NCBI Gene)	CDS1CHK2HuCds1LFS2PP1425RAD53TPDS4hCds1
Chromosome	22
Chromosome location	22q12.1
Summary	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

374

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

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

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

7804

Show/Hide Causal Diseases (46)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bone osteosarcoma	Likely pathogenic; Pathogenic	rs2053419665, rs121908698, rs587780174, rs200432447, rs28909982, rs536907995, rs587781269, rs587781705, rs587782401, rs587782471, rs72552322, rs587782849, rs730881700, rs730881687, rs730881701 View all (16 more)	RCV002499777 RCV005394377 RCV005003476 RCV004796022 RCV005003477 RCV000763475 RCV004796025 RCV002505102 RCV000763478 RCV000515447 RCV005025215 RCV005025216 RCV004796033 RCV005394553 RCV002498796 RCV000763477 RCV005025255 RCV000005943 RCV005025326 RCV002485316 RCV005399064 RCV005396858 RCV005038565 RCV000763474 RCV000763476 RCV005027662 RCV005398885 RCV004732484 RCV005392128 RCV005034151 RCV005027687 RCV005036219
Breast and colorectal cancer, susceptibility to	Likely pathogenic; Pathogenic	rs200432447, rs121908698, rs587782070, rs72552322	RCV000210124 RCV000210090 RCV001267682 RCV000210071
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs2146151890, rs587780174, rs200432447, rs28909982, rs121908698, rs587782245, rs587782766, rs786202497, rs137853007, rs371418985, rs2517798558, rs200917541, rs1298667185, rs779844113, rs749153163, rs2054330803 View all (1 more)	RCV001799077 RCV003149809 RCV001798352 RCV001798355 RCV001270936 RCV003492607 RCV003149913 RCV001798587 RCV003149565 RCV003491990 RCV003493313 RCV003150248 RCV001270938 RCV003492132 RCV001798966 RCV001270932
Breast cancer, susceptibility to	Likely pathogenic; Pathogenic	rs28909982, rs121908698, rs587782401, rs765080766, rs886039609, rs1555926996	RCV001258041 RCV000501923 RCV001258067 RCV001258068 RCV001258052 RCV001258053
Breast carcinoma	Likely pathogenic; Pathogenic	rs2145951528, rs2146005460, rs121908698, rs536907995, rs756949505, rs72552322, rs587782849, rs878854926	RCV001648489 RCV001663391 RCV001554253 RCV001640105 RCV002267643 RCV001554290 RCV001554293 RCV001579299
Breast neoplasm	Pathogenic; Likely pathogenic	rs1555913881, rs1601702086	RCV000677874 RCV000850310
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs121908698, rs587782070, rs786203458, rs137853007, rs764884641, rs371418985, rs756250205, rs876659519	RCV005246647 RCV004668792 RCV005246744 RCV005861015 RCV004668848 RCV005416113 RCV005861084 RCV005246836
Cancer or benign tumor	Likely pathogenic; Pathogenic	rs587780174	RCV005625293
Carcinoma of pancreas	Likely pathogenic; Pathogenic	rs764884641	RCV001391210
CHEK2-related cancer predisposition	Likely pathogenic; Pathogenic	rs2053419665, rs2145951385, rs121908698, rs587780174, rs200432447, rs28909982, rs587780183, rs536907995, rs756949505, rs587781269, rs587781705, rs200928781, rs587782401, rs587782471, rs72552322 View all (34 more)	RCV002499777 RCV004822380 RCV005394377 RCV003313937 RCV001705822 RCV001787918 RCV000763475 RCV005359099 RCV003992188 RCV003136370 RCV002505102 RCV000763478 RCV003448269 RCV000515447 RCV000791342 RCV005025216 RCV001171462 RCV005394553 RCV002498796 RCV000763477 RCV005025255 RCV005361038 RCV002294059 RCV000005940 RCV000005941 RCV001171463 RCV002485316 RCV005356248 RCV005399064 RCV006436701 RCV005414481 RCV003333745 RCV005396858 RCV004796800 RCV005356407 RCV005038565 RCV000763474 RCV000763476 RCV004577527 RCV005357563 RCV001788289 RCV005027662 RCV005398885 RCV005621972 RCV005392128 RCV005034151 RCV001788295 RCV001814204 RCV005367515 RCV005036219
CHEK2-related disorder	Likely pathogenic; Pathogenic	rs587780174, rs28909982, rs121908698, rs2146156838, rs587781269, rs587782245, rs587782471, rs587782849, rs730881700, rs2517805482, rs765080766	RCV004737198 RCV003114263 RCV004737199 RCV004538646 RCV004737213 RCV004544296 RCV004737226 RCV004532583 RCV004535041 RCV004723358 RCV004737837
Childhood neoplasm	Likely pathogenic; Pathogenic	rs587782245	RCV005625309
Colon adenocarcinoma	Likely pathogenic	rs1601822717	RCV005912395
Colorectal cancer	Likely pathogenic; Pathogenic	rs2053419665, rs121908698, rs587780183, rs587781269, rs587782245, rs730881687, rs748005072, rs121908702, rs786203229, rs376736188	RCV002499777 RCV002463642 RCV002288601 RCV002505102 RCV001814065 RCV002498796 RCV002463654 RCV002288467 RCV002485316 RCV001543607
Congenital heart defects, multiple types, 3	Likely pathogenic; Pathogenic	rs730881701	RCV001007871
Endometrial carcinoma	Likely pathogenic; Pathogenic	rs121908698, rs764884641	RCV003128145 RCV003128154
Familial cancer of breast	Pathogenic; Likely pathogenic	rs2145815434, rs2145748275, rs2052240942, rs2145748708, rs1483241325, rs1410392419, rs2145953393, rs2053419665, rs1601715852, rs2145784977, rs2145785415, rs1555913161, rs876659827, rs2145793028, rs2145794013 View all (646 more)	RCV001355121 RCV001379781 RCV001377751 RCV001378495 RCV001377895 RCV005208738 RCV001378496 RCV001377776 RCV001386595 RCV001384342 RCV001383723 RCV001387273 RCV001384503 RCV001380816 RCV001386208 RCV001385396 RCV001384863 RCV001388288 RCV001389704 RCV001382114 RCV001390538 RCV001385211 RCV001381774 RCV001380137 RCV001380817 RCV001390193 RCV001387182 RCV001389565 RCV001389599 RCV001385789 RCV001382309 RCV001390827 RCV001380516 RCV001383501 RCV001387045 RCV001383335 RCV001389227 RCV001388181 RCV001381133 RCV001388713 RCV001380830 RCV001386363 RCV001380163 RCV003335588 RCV001388198 RCV001384270 RCV001383631 RCV001385600 RCV001385048 RCV001388156 RCV001384107 RCV003500682 RCV001728027 RCV005121957 RCV000816882 RCV000199852 RCV001869797 RCV000635839 RCV000198820 RCV000471222 RCV000204429 RCV000196718 RCV000550157 RCV001387573 RCV001919100 RCV001863830 RCV002039188 RCV001974161 RCV001999759 RCV001864650 RCV001941658 RCV001936746 RCV001967626 RCV001993776 RCV001969980 RCV000458969 RCV001899888 RCV002050009 RCV001950951 RCV001881696 RCV001967957 RCV001947848 RCV002013271 RCV001966858 RCV001893148 RCV001952268 RCV002044041 RCV001953752 RCV001958928 RCV002014609 RCV002018750 RCV002014496 RCV001928907 RCV001994743 RCV001994829 RCV001994083 RCV001993122 RCV002007208 RCV002006620 RCV001877342 RCV001899446 RCV001912768 RCV001922524 RCV002000088 RCV001994712 RCV001890326 RCV001939934 RCV001942107 RCV001939635 RCV001949025 RCV002037950 RCV001946898 RCV001882986 RCV002041727 RCV001883269 RCV001903804 RCV001944007 RCV001951330 RCV002029581 RCV001992651 RCV001956563 RCV001974737 RCV001873842 RCV001985253 RCV002005191 RCV000232015 RCV002039751 RCV001986482 RCV002021691 RCV000195906 RCV000546023 RCV000763478 RCV003335120 RCV001866749 RCV001916459 RCV000206869 RCV000199638 RCV000204563 RCV000545158 RCV000199653 RCV000200030 RCV000555386 RCV001064635 RCV000204969 RCV000228472 RCV003336505 RCV003336509 RCV003095860 RCV003099452 RCV003099551 RCV003336523 RCV005621170 RCV003102318 RCV003336543 RCV003336554 RCV000473927 RCV000559596 RCV000464029 RCV000229303 RCV000206058 RCV005097182 RCV003336575 RCV003607479 RCV003336578 RCV003103560 RCV003336579 RCV003336577 RCV003336566 RCV003336583 RCV003336586 RCV003454233 RCV003095311 RCV003607509 RCV005098094 RCV003138266 RCV003103021 RCV000226984 RCV000458226 RCV003335161 RCV000532130 RCV000635824 RCV000576741 RCV000204794 RCV001215060 RCV000545663 RCV001850343 RCV003335163 RCV000635868 RCV000197766 RCV003103158 RCV003103159 RCV003336759 RCV003050576 RCV002690611 RCV002717216 RCV002820817 RCV000197612 RCV000635628 RCV002843621 RCV002811974 RCV002828720 RCV002856102 RCV002856607 RCV002862114 RCV002838635 RCV002861745 RCV002830244 RCV002862074 RCV002833385 RCV002856319 RCV002857625 RCV002852731 RCV002863186 RCV002847743 RCV002880903 RCV002867024 RCV002847624 RCV002866625 RCV002866637 RCV002872011 RCV002881328 RCV002852401 RCV002858066 RCV002867319 RCV002867992 RCV002867999 RCV002900059 RCV002885351 RCV002872429 RCV002877417 RCV002895828 RCV002909590 RCV002949437 RCV000197064 RCV000195929 RCV003025509 RCV002991826 RCV003021591 RCV003025973 RCV003033453 RCV003014366 RCV003031985 RCV003023830 RCV003026771 RCV003020313 RCV003027522 RCV003024968 RCV003040196 RCV003024599 RCV003027941 RCV003047267 RCV003057503 RCV003027747 RCV003033009 RCV003025346 RCV003057204 RCV003049811 RCV003049852 RCV003036068 RCV003044865 RCV003062076 RCV003044688 RCV003045154 RCV000205137 RCV000206009 RCV000203880 RCV000465371 RCV000462314 RCV000810666 RCV003335267 RCV001065399 RCV000663138 RCV003335246 RCV000469433 RCV000699485 RCV001230274 RCV000823885 RCV000547049 RCV000576345 RCV003335238 RCV004791342 RCV000468038 RCV000635873 RCV000576520 RCV000635697 RCV001854719 RCV001853514 RCV001212505 RCV001854693 RCV003140320 RCV003140355 RCV003140366 RCV003140371 RCV003140392 RCV003466032 RCV005101108 RCV000234460 RCV000229454 RCV000227592 RCV000229878 RCV000228482 RCV003334410 RCV000468702 RCV003335295 RCV000558415 RCV000545100 RCV000409327 RCV000529813 RCV001070188 RCV001384514 RCV003315495 RCV003316942 RCV003336863 RCV003336871 RCV003336874 RCV003336885 RCV003336900 RCV003336901 RCV003336904 RCV003336924 RCV003336927 RCV003336932 RCV003336955 RCV003336957 RCV003336960 RCV003336964 RCV003336966 RCV003336973 RCV003336976 RCV003336977 RCV003336983 RCV003336987 RCV003337001 RCV003337003 RCV003337004 RCV003337005 RCV003337011 RCV003337017 RCV003337021 RCV003337022 RCV003337024 RCV003337025 RCV003337033 RCV003337049 RCV003337050 RCV003337064 RCV003337066 RCV003337085 RCV003337089 RCV003337093 RCV003337094 RCV003337095 RCV003337097 RCV003337117 RCV003337122 RCV003337134 RCV003337136 RCV003337137 RCV003337147 RCV003337150 RCV003337155 RCV003337161 RCV003337169 RCV003337170 RCV003337176 RCV003337186 RCV003337187 RCV003337191 RCV003337198 RCV003337199 RCV003337200 RCV003337203 RCV003337205 RCV003337209 RCV003337223 RCV003334475 RCV003334487 RCV003334488 RCV003334492 RCV003334496 RCV003334507 RCV003334554 RCV003334568 RCV003334571 RCV003334574 RCV003334615 RCV003334653 RCV003334666 RCV003334694 RCV003334746 RCV003334758 RCV003335551 RCV003335568 RCV003335582 RCV003335585 RCV003335586 RCV003335587 RCV003335589 RCV003335601 RCV003335607 RCV003335613 RCV003335621 RCV003335627 RCV003335638 RCV003335655 RCV003335658 RCV003335666 RCV003335671 RCV003335672 RCV003335675 RCV003335677 RCV003335694 RCV003335697 RCV003335700 RCV003335710 RCV003335715 RCV003335730 RCV003335740 RCV003335744 RCV003335753 RCV003335755 RCV003335756 RCV003335763 RCV003335768 RCV003335770 RCV003335778 RCV005104111 RCV003468397 RCV003468398 RCV003468400 RCV003468405 RCV003468408 RCV003468409 RCV003468411 RCV003468412 RCV003468414 RCV003468419 RCV003455907 RCV003450586 RCV003452223 RCV003500936 RCV003501134 RCV003501041 RCV003501309 RCV003501310 RCV003501354 RCV003501305 RCV003501340 RCV003501691 RCV003501790 RCV003501949 RCV003500136 RCV003501990 RCV003500124 RCV003500168 RCV003500236 RCV003500162 RCV003500163 RCV003500194 RCV003500988 RCV003500338 RCV003500488 RCV003500411 RCV003500267 RCV003500275 RCV003500320 RCV003500326 RCV003500442 RCV003500443 RCV003500996 RCV003779356 RCV003607650 RCV003607605 RCV003607706 RCV003607831 RCV003607859 RCV003607817 RCV003607819 RCV003607801 RCV003608002 RCV003607917 RCV003607994 RCV003607927 RCV003607928 RCV003608048 RCV003607964 RCV003607965 RCV003608180 RCV003608106 RCV003608083 RCV003608166 RCV003608274 RCV003608352 RCV003608368 RCV003608362 RCV003608391 RCV003608511 RCV003608513 RCV003827824 RCV003843072 RCV003869228 RCV003867363 RCV004442556 RCV004442708 RCV004575643 RCV000409709 RCV003335322 RCV000474737 RCV000456304 RCV000469025 RCV000464286 RCV000460369 RCV000467195 RCV000474863 RCV000457707 RCV000476282 RCV000465281 RCV000464247 RCV000456188 RCV003335363 RCV001851132 RCV003335349 RCV000543761 RCV001064455 RCV001041221 RCV001066993 RCV000635920 RCV000699758 RCV000635951 RCV003335439 RCV000541871 RCV001851498 RCV000576726 RCV000529636 RCV000551387 RCV000532620 RCV000550472 RCV000525290 RCV000549448 RCV000527932 RCV000553258 RCV000536951 RCV000541307 RCV000548678 RCV000538143 RCV000533140 RCV000543962 RCV000556065 RCV000527688 RCV000556192 RCV000530353 RCV000532543 RCV000540634 RCV000540422 RCV000635927 RCV003335489 RCV000812102 RCV003335488 RCV003607304 RCV001865736 RCV000709597 RCV003335492 RCV003335491 RCV000794944 RCV003470813 RCV003335490 RCV001858193 RCV000806075 RCV000700074 RCV000700987 RCV001386761 RCV001055511 RCV000635773 RCV001858099 RCV000804027 RCV003335487 RCV001858287 RCV000635856 RCV000576866 RCV000576712 RCV000576500 RCV000576340 RCV001217823 RCV000802961 RCV001209317 RCV000703607 RCV000778091 RCV000805624 RCV000801436 RCV002530795 RCV002289861 RCV001386328 RCV003336074 RCV000794905 RCV000694321 RCV001867911 RCV001860142 RCV000635662 RCV000635875 RCV000635853 RCV000635735 RCV000635732 RCV000635733 RCV000635711 RCV000635919 RCV000635943 RCV000635948 RCV000635778 RCV000635904 RCV000635634 RCV000635876 RCV001377422 RCV000662880 RCV000706768 RCV001861676 RCV005091885 RCV003336122 RCV002531391 RCV000686426 RCV000699597 RCV000706598 RCV000705252 RCV000696835 RCV000705355 RCV000703737 RCV000707182 RCV000693670 RCV000706341 RCV000699766 RCV000695376 RCV000694776 RCV000692012 RCV005208595 RCV000690907 RCV000693565 RCV000689709 RCV003336160 RCV000709595 RCV000709598 RCV000709718 RCV000709716 RCV000709717 RCV001855914 RCV001856010 RCV000809261 RCV002535623 RCV000781304 RCV000805589 RCV000805833 RCV000800708 RCV000805749 RCV000806057 RCV000811241 RCV000823638 RCV000815160 RCV000823211 RCV000794492 RCV000812025 RCV000823637 RCV000822473 RCV000816534 RCV000814575 RCV000803491 RCV000821423 RCV000792964 RCV000806398 RCV000809809 RCV000806336 RCV000816723 RCV003467536 RCV002549652 RCV000990388 RCV003336226 RCV002551747 RCV001385373 RCV001860659 RCV001862769 RCV003336227 RCV001055878 RCV001239033 RCV003336269 RCV001042297 RCV001862334 RCV003336262 RCV003467668 RCV001381969 RCV003500628 RCV001862785 RCV001035082 RCV001239956 RCV001860880 RCV002549464 RCV003155963 RCV001038430 RCV001051488 RCV001035444 RCV001057755 RCV001051229 RCV001058838 RCV001051734 RCV001056400 RCV001052673 RCV001042829 RCV001036373 RCV001054096 RCV001041222 RCV001070798 RCV001044410 RCV001037472 RCV001042203 RCV001042949 RCV001042204 RCV001071257 RCV001063646 RCV001037160 RCV001037898 RCV001065655 RCV001875946 RCV002249759 RCV001226509 RCV001378952 RCV003336319 RCV001221449 RCV001223646 RCV001217885 RCV001219588 RCV001224570 RCV001215561 RCV001224551 RCV001214520 RCV001218672 RCV001210845 RCV001205283 RCV001206015 RCV001213522 RCV001202837 RCV001201720 RCV001210302 RCV001212742 RCV001215075 RCV001215376 RCV001226833 RCV001228231 RCV001228230 RCV001235204 RCV001233990 RCV001234930 RCV001233575 RCV001233283 RCV001233646 RCV001228603 RCV001229416 RCV001236386 RCV001227089 RCV001239350 RCV001240346 RCV001247249 RCV001245023 RCV001243341 RCV001247124 RCV001253118 RCV001385374
Familial ovarian cancer	Likely pathogenic; Pathogenic	rs536907995	RCV001356492
Familial prostate cancer	Likely pathogenic; Pathogenic	rs121908698, rs587780174, rs200432447, rs28909982, rs587780183, rs536907995, rs587782471, rs72552322, rs587782849, rs730881700, rs730881687, rs748005072, rs764884641, rs2518133313, rs756250205 View all (10 more)	RCV005394377 RCV005003476 RCV004819219 RCV005003477 RCV005031611 RCV005359099 RCV004796025 RCV005025215 RCV005025216 RCV004796033 RCV005394553 RCV005394552 RCV005025255 RCV005025326 RCV005399064 RCV002282053 RCV005396858 RCV005356407 RCV005038565 RCV004796214 RCV005027662 RCV005398885 RCV005392128 RCV005034151 RCV005027687 RCV005036219
Gastric cancer	Likely pathogenic; Pathogenic	rs1410392419, rs200432447, rs587781269, rs730881701, rs1248967885, rs121908703, rs878854926, rs2517962774, rs2518054435, rs1226367231, rs2517943044, rs2518008509, rs137853007, rs1060502716, rs1298667185, rs1555921011, rs1601753141 View all (2 more)	RCV003169933 RCV003162543 RCV003162571 RCV003162676 RCV003164593 RCV003164594 RCV003164595 RCV003164634 RCV003164646 RCV003164698 RCV003164699 RCV003164700 RCV003162212 RCV005899486 RCV003159957 RCV003159980 RCV003162844 RCV003160178
Hepatocellular carcinoma	Likely pathogenic	rs2517794678	RCV005871137
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs2053419665, rs587780174, rs200432447, rs28909982, rs587781269, rs200928781, rs587782070, rs587782245, rs587782471, rs72552322, rs587782766, rs587782849, rs2145951132, rs2146152668, rs730881687 View all (32 more)	RCV004764801 RCV000585980 RCV000589100 RCV001374534 RCV002225419 RCV001175336 RCV002228315 RCV001175504 RCV000212433 RCV004764770 RCV003987373 RCV002468934 RCV002247755 RCV002266437 RCV005055649 RCV001526967 RCV006261779 RCV001201228 RCV001192408 RCV002509269 RCV005638400 RCV002229123 RCV005251093 RCV002265697 RCV002282061 RCV005090100 RCV001199925 RCV003396935 RCV005406979 RCV001260330 RCV005240749 RCV003404997 RCV003484422 RCV006268788 RCV002222517 RCV001375597 RCV001280574 RCV005901357 RCV003230542 RCV004764791 RCV003230544 RCV006265093 RCV000589468 RCV004782522 RCV003479217 RCV001030620 RCV004702576 RCV002298833
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2145794195, rs2053419665, rs1601715852, rs1555913161, rs876659827, rs786203053, rs2145948828, rs2145950251, rs2146058204, rs2146144384, rs2146147030, rs2146151890, rs2145792867, rs2145816035, rs2145739661 View all (342 more)	RCV006391950 RCV002368214 RCV005532995 RCV002395874 RCV005638576 RCV004037670 RCV002413911 RCV005532996 RCV004611798 RCV005806751 RCV004951661 RCV002413913 RCV001524717 RCV001525729 RCV003365440 RCV000566906 RCV001022484 RCV002415594 RCV000115992 RCV000116005 RCV000116012 RCV000116017 RCV000116022 RCV000116023 RCV000116027 RCV002386634 RCV000579628 RCV003289370 RCV002352646 RCV002331557 RCV005542579 RCV002458883 RCV005804436 RCV003303492 RCV005535190 RCV002406971 RCV002324401 RCV002343947 RCV003365539 RCV002407111 RCV002386915 RCV004946908 RCV000128901 RCV003161271 RCV000129647 RCV000129866 RCV000129876 RCV000130129 RCV005320959 RCV000130486 RCV000130559 RCV000130949 RCV000131434 RCV000131577 RCV000131700 RCV000131803 RCV000132173 RCV000132293 RCV000132412 RCV000132447 RCV004047195 RCV006396954 RCV002259290 RCV002258752 RCV002451981 RCV002459474 RCV002349023 RCV002443320 RCV002443357 RCV002346694 RCV002321191 RCV002320916 RCV002333238 RCV002330032 RCV002347614 RCV002347633 RCV002364415 RCV002338020 RCV002349900 RCV000160450 RCV001804883 RCV000214915 RCV000160452 RCV000567447 RCV002419068 RCV002430349 RCV002430454 RCV002373802 RCV002362080 RCV002391460 RCV002371220 RCV002373342 RCV002378583 RCV002378655 RCV002378685 RCV002378474 RCV002374268 RCV002367063 RCV002367172 RCV002380039 RCV002400586 RCV002447560 RCV002376667 RCV002383294 RCV002387452 RCV002389416 RCV002405392 RCV002405669 RCV002396749 RCV002403166 RCV002394884 RCV002383559 RCV002383810 RCV002383811 RCV002394375 RCV002448380 RCV002448528 RCV002441689 RCV002431286 RCV002444228 RCV000164545 RCV000165489 RCV000166159 RCV000164779 RCV000166190 RCV000164458 RCV000167053 RCV000164995 RCV000165339 RCV000166451 RCV000166630 RCV000167390 RCV000166773 RCV005542746 RCV006396987 RCV003367962 RCV005804590 RCV000116016 RCV002390093 RCV000166320 RCV005804614 RCV005321255 RCV000222175 RCV000566129 RCV003367954 RCV000570644 RCV003165494 RCV003165500 RCV000448496 RCV000568161 RCV003165578 RCV001018802 RCV000574687 RCV000218911 RCV000217042 RCV000219822 RCV000214536 RCV000217905 RCV000220512 RCV000219411 RCV000217777 RCV000223384 RCV000213840 RCV000215927 RCV000219380 RCV000215015 RCV000219196 RCV000213838 RCV000213857 RCV000218820 RCV000220544 RCV003172160 RCV003172162 RCV003172164 RCV003172167 RCV003172171 RCV003172177 RCV003172179 RCV000492286 RCV000568332 RCV002444910 RCV000571803 RCV005801761 RCV000569979 RCV002328750 RCV000573767 RCV002446501 RCV003584585 RCV001804992 RCV000775229 RCV004607840 RCV003306596 RCV003306598 RCV003293692 RCV003293696 RCV003306602 RCV004949058 RCV004949070 RCV006381971 RCV005537572 RCV005806750 RCV004334134 RCV005537573 RCV004614423 RCV003368072 RCV004614424 RCV005323419 RCV004334146 RCV003360662 RCV003360663 RCV003360664 RCV003348140 RCV004614473 RCV005323500 RCV003585125 RCV003585126 RCV005323519 RCV005806811 RCV004950578 RCV004614495 RCV004517285 RCV004517291 RCV004517297 RCV004517302 RCV004517309 RCV004517310 RCV004517312 RCV004517318 RCV000773145 RCV000572752 RCV000566120 RCV003584611 RCV004609388 RCV002436442 RCV001027311 RCV002365646 RCV006386847 RCV000565790 RCV001188944 RCV002455926 RCV000565389 RCV005318406 RCV000562639 RCV001188327 RCV000568231 RCV001016911 RCV000492481 RCV000492459 RCV000492671 RCV000492222 RCV001017856 RCV000572280 RCV000571653 RCV001015209 RCV001012055 RCV001805158 RCV001524435 RCV002431573 RCV000568941 RCV000565718 RCV004023842 RCV000583942 RCV000570557 RCV002358485 RCV005540106 RCV002384084 RCV000564621 RCV000569419 RCV000571640 RCV000572548 RCV000575173 RCV000563323 RCV000562978 RCV000575839 RCV000565506 RCV000568296 RCV000567556 RCV000561232 RCV000569863 RCV000576069 RCV000570312 RCV000567692 RCV000565297 RCV000561136 RCV000572454 RCV000562079 RCV000573147 RCV000573370 RCV000574542 RCV000572266 RCV000567283 RCV000564808 RCV000563054 RCV000568969 RCV000565709 RCV005801829 RCV000584150 RCV000583970 RCV000581889 RCV000582032 RCV000583186 RCV000581639 RCV000584578 RCV000582445 RCV000582748 RCV000583981 RCV000583746 RCV000583579 RCV000584130 RCV000584472 RCV000581207 RCV000582469 RCV002431744 RCV000771629 RCV002331139 RCV002438685 RCV005318466 RCV004948497 RCV001027035 RCV002388160 RCV002388158 RCV004609475 RCV004948551 RCV005540131 RCV005318496 RCV003165931 RCV002388249 RCV002369968 RCV004026484 RCV005318483 RCV002386197 RCV002442412 RCV002332426 RCV004026334 RCV000708608 RCV002386280 RCV004027167 RCV000772223 RCV000777349 RCV000777567 RCV003584743 RCV002388516 RCV002381773 RCV005801884 RCV005251229 RCV002352469 RCV001022581 RCV001016347 RCV002442757 RCV002325499 RCV002352383 RCV001180798 RCV006387026 RCV001026971 RCV001010999 RCV001011667 RCV001011358 RCV001010972 RCV001011109 RCV001010468 RCV001010166 RCV001019612 RCV001026288 RCV001025922 RCV001025875 RCV001025853 RCV001025596 RCV001024405 RCV001023616 RCV001022847 RCV001020716 RCV001017671 RCV001012114 RCV001011222 RCV001018803 RCV001017857 RCV001017844 RCV001025718 RCV001024687 RCV001024686 RCV001019081 RCV005540235 RCV005801981 RCV005540253 RCV002379556 RCV004031699 RCV002434437 RCV003160521 RCV005801975 RCV001179691 RCV001179811 RCV001180499 RCV001181895 RCV001175711 RCV001175976 RCV001184885 RCV001192042 RCV002402676 RCV004034048 RCV004950365 RCV002379777 RCV005802042 RCV005540308 RCV002321999 RCV004950355 RCV002356970 RCV002379891 RCV004951391 RCV002356973 RCV002366018 RCV004034610 RCV005540345 RCV003584876
Hereditary nonpolyposis colon cancer	Pathogenic; Likely pathogenic	rs1601719469, rs72552322, rs750616657, rs764884641, rs886039631, rs1390889028	RCV005370025 RCV005359279 RCV005359492 RCV005361156 RCV005361502 RCV005357746
Incidental Discovery	Likely pathogenic; Pathogenic	rs1555912044	RCV005251003
Inherited breast cancer and ovarian cancer	Likely pathogenic; Pathogenic	rs587780174, rs28909982, rs121908698, rs536907995, rs587782245, rs730881700	RCV006270223 RCV005252761 RCV004772840 RCV004584196 RCV005237569 RCV006261951
Inherited prostate cancer	Likely pathogenic	rs1555915298	RCV006438424
Li-Fraumeni syndrome	Likely pathogenic; Pathogenic	rs587781269, rs786202601, rs137853007, rs121908707	RCV005406834 RCV000588604 RCV000587420 RCV000587596
Li-Fraumeni syndrome 1	Likely pathogenic	rs137853007	RCV003224854
Lynch syndrome 1	Likely pathogenic	rs2517806508	RCV002282966
Malignant lymphoma, large B-cell, diffuse	Likely pathogenic	rs1569115687	RCV003448982
Malignant tumor of breast	Likely pathogenic; Pathogenic	rs2145750415, rs2145794195, rs2145932387, rs28909982, rs121908698, rs587781269, rs200928781, rs587782245, rs587782401, rs72552322, rs587782849, rs786203650, rs137853007, rs766416564, rs1474786480, rs864622613 View all (1 more)	RCV001356269 RCV001357386 RCV001357360 RCV001263516 RCV001354639 RCV001354537 RCV001355927 RCV001354068 RCV003492621 RCV003987371 RCV004551270 RCV001358419 RCV001358124 RCV001356374 RCV001355310 RCV001355188
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs121908698	RCV005887929
Melanoma	Likely pathogenic; Pathogenic	rs121908698	RCV002508922
Neoplasm	Likely pathogenic	rs786203650	RCV004668868
Nephroblastoma	Pathogenic	rs1555913934	RCV000505568
Ovarian carcinoma	Likely pathogenic	rs545982789	RCV001644952
Predisposition to cancer	Likely pathogenic; Pathogenic	rs587780174, rs28909982, rs587781705, rs587782471, rs72552322, rs786203458	RCV002254679 RCV001526815 RCV005055075 RCV003153427 RCV002291570 RCV004786474
Premature ovarian failure	Likely pathogenic; Pathogenic	rs200928781	RCV001270242
Prostate cancer	Likely pathogenic; Pathogenic	rs2053419665, rs587780174, rs121908698, rs587781269, rs587781705, rs200928781, rs587782245, rs587782401, rs587782849, rs730881687, rs730881701, rs121908702, rs786203229, rs560596101, rs200917541	RCV002499777 RCV001542702 RCV000763475 RCV002505102 RCV000763478 RCV001787089 RCV001814065 RCV000515447 RCV003334383 RCV002498796 RCV000763477 RCV003333688 RCV002485316 RCV000763474 RCV000763476
Prostate cancer susceptibility	Likely pathogenic; Pathogenic	rs28909982, rs587782401, rs765080766, rs886039609, rs1555926996	RCV001258041 RCV001258067 RCV001258068 RCV001258052 RCV001258053
Sarcoma	Pathogenic	rs1555927374	RCV000677872
Thymoma	Likely pathogenic; Pathogenic	rs1060502698	RCV005899485
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs886039721	RCV005895454
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE	Likely pathogenic; Pathogenic	rs121908698	RCV003333693
Uterine corpus cancer	Likely pathogenic; Pathogenic	rs876659519	RCV003128155

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs121908700	RCV005887928
Adrenal cortex carcinoma	Conflicting classifications of pathogenicity; risk factor	rs17879961	RCV000626718
Astrocytoma	Conflicting classifications of pathogenicity	rs555607708	RCV000591014
Breast-ovarian cancer, familial, susceptibility to, 2	Conflicting classifications of pathogenicity	rs371657037, rs121908701, rs748636216, rs137926355	RCV005604779 RCV005604764 RCV005623329 RCV005623365
Carcinoma of colon	Conflicting classifications of pathogenicity; Uncertain significance	rs200050883, rs540635787, rs587780190	RCV001356041 RCV000234795 RCV001357959
CHEK2-related cancer risk	Conflicting classifications of pathogenicity	rs137853011	RCV001449813
Colon cancer	Conflicting classifications of pathogenicity	rs142763740	RCV001564016
Colonic neoplasm	Conflicting classifications of pathogenicity	rs587780192	RCV001579302
Cystic fibrosis	Conflicting classifications of pathogenicity; risk factor	rs17879961	RCV005862701
Diffuse midline glioma, H3 K27-altered	Uncertain significance	rs2146059182	RCV003313809
Familial colorectal cancer type X	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs587780179, rs587782300, rs373959274, rs752359705	RCV005359096 RCV005359253 RCV005359483 RCV005359420
Gastrointestinal carcinoma	Conflicting classifications of pathogenicity; risk factor	rs17879961	RCV000626718
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs200050883, rs587780180, rs587780181, rs121908700, rs533475838, rs199708878, rs587782489, rs376736188	RCV003492502 RCV003492503 RCV005229914 RCV003492504 RCV005229957 RCV004700447 RCV004700451 RCV000509464
Leiomyosarcoma	Conflicting classifications of pathogenicity	rs555607708	RCV000488416
Lung cancer	Conflicting classifications of pathogenicity	rs531398630	RCV001527478
Lung carcinoma	Conflicting classifications of pathogenicity	rs540635787	RCV000234795
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs1555914393	RCV005934641
NICE approved PARP inhibitor treatment	Conflicting classifications of pathogenicity	rs555607708	RCV004691754
NK-cell enteropathy	Uncertain significance	rs121908706	RCV000791309
Ovarian neoplasm	Conflicting classifications of pathogenicity	rs555607708, rs531398630	RCV003445511 RCV001527478
Prostate cancer, somatic	Conflicting classifications of pathogenicity	rs137853010	RCV000005945
See cases	Conflicting classifications of pathogenicity	rs781254437	RCV001537852
Triple-negative breast cancer	Uncertain significance	rs767306337	RCV000202371
TUMOR PREDISPOSITION SYNDROME 4, BREAST	Conflicting classifications of pathogenicity	rs137853011	RCV003333691
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL	Conflicting classifications of pathogenicity; risk factor	rs555607708, rs17879961	RCV003333692 RCV003333685
Uterine carcinosarcoma	Benign	rs17881138	RCV005915598

Show/Hide Text Mining Associations (186)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)