NBN (nibrin)

Gene

• Entrez ID: 4683
• Gene name: Nibrin
• Gene symbol: NBN
• Synonyms (NCBI Gene): AT-V1, AT-V2, ATV, NBS, NBS1, P95, hNbs1
• Chromosome: 8
• Chromosome location: 8q21.3
• Summary: Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs769414	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs12721593	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs34767364	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs61753717	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs61753720	C>A,G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, 5 prime UTR variant, missense variant
rs61754966	T>C,G	Risk-factor, uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs61754967	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs104895032	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs121908973	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs121908974	G>A,C,T	Likely-benign, benign-likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Synonymous variant, stop gained, coding sequence variant
rs141137543	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142301194	A>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs142334798	A>C,T	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs143948240	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs146989944	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs147626427	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant
rs200287925	G>A	Pathogenic, pathogenic-likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs200297914	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200452212	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs201392451	C>T	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs202104448	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs368786672	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs369408590	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Genic upstream transcript variant, upstream transcript variant, intron variant
rs369910645	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs371480039	A>G,T	Uncertain-significance, pathogenic-likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs375862750	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs529340553	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs539960851	A>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs551032019	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs556807466	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Genic upstream transcript variant, intron variant, upstream transcript variant
rs570914185	T>C	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, genic downstream transcript variant, intron variant
rs574673404	C>T	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs577706448	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs587776650	GTTTT>-	Risk-factor, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587780091	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs587780095	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs587780096	C>A,G	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs587780100	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587781305	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587781557	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs587781620	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs587781718	TT>-,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs587781891	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs587781969	G>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587782130	G>A,T	Uncertain-significance, pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs587782147	A>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587782290	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Upstream transcript variant, intron variant, genic upstream transcript variant
rs587782330	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs587782344	->T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs587782545	T>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs587782653	TTTTAATCACCAGT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs730881839	->T	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs730881840	GATTTCGGCTGATCGACTGATCATTTTCAAT>-	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs730881850	A>T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs730881857	G>C	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs730881859	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs730881864	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs745355767	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs746422391	A>G	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, missense variant, initiator codon variant, upstream transcript variant, 5 prime UTR variant
rs746994234	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs748453607	G>A,C,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs748513310	TT>-,TTT	Pathogenic	Coding sequence variant, frameshift variant
rs750375741	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant, 5 prime UTR variant
rs751567476	T>A,C	Likely-pathogenic	Splice acceptor variant, intron variant
rs754352569	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs754651655	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs754659423	A>G,T	Likely-pathogenic	Splice donor variant
rs754864893	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs756363734	C>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs756572268	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs758708229	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs758830069	ATTGGACGTCCACAAAT>-	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs759232053	C>-	Likely-pathogenic, pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs760237820	->C	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs762664474	->CT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs764884516	GG>G,T	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs766044684	TTTTT>-,T,TTTTTT	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs767215758	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs767454740	AA>-	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs768378152	CT>-	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs771475965	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs772005832	T>C	Likely-pathogenic	Splice acceptor variant
rs774989816	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs775397477	T>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs776417262	G>-	Likely-pathogenic	Stop gained, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs778306619	C>A,T	Likely-pathogenic	Splice donor variant
rs779098734	T>A	Pathogenic, likely-pathogenic	5 prime UTR variant, upstream transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs780235686	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs786201745	C>A	Pathogenic-likely-pathogenic, pathogenic	Downstream transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs786201965	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs786202490	AC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs786202494	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs786203223	A>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs786203662	AC>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, splice acceptor variant
rs786203920	T>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs786204181	C>G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs786205135	A>C	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs864309668	CTGT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs864309669	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs864309670	->CC	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs864622090	T>A,C	Likely-pathogenic	Splice acceptor variant
rs864622143	G>A	Pathogenic, pathogenic-likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs864622253	CA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs864622333	->AGACATTTCTTGA	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs864622511	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs876658183	->A	Uncertain-significance, likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs876659305	AA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs876659521	T>C,G	Likely-pathogenic	Splice acceptor variant
rs876659592	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659666	AAAACAGAC>TGT	Likely-pathogenic	Splice donor variant, intron variant
rs876660290	G>C	Pathogenic	Stop gained, coding sequence variant
rs876661130	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs876661189	->AA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs876661254	->GGAATTAAGGTCTGTGAGTTTGTTATTCCTGT	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, inframe insertion
rs878854511	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs886063169	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs931715719	C>T	Likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs941732827	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs962092255	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057516320	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1057516332	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant
rs1057516392	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1057516611	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516668	T>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516772	CAGGTTGGTTAC>-	Likely-pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant, intron variant, coding sequence variant, splice donor variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516787	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs1057516852	AG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516869	TT>A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517075	A>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517102	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517104	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057517209	C>G,T	Likely-pathogenic	Splice donor variant
rs1057517262	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057519585	A>C	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1057519586	A>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1057519587	TTCAGGAATAGGTCTAAGACCTTGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519588	C>T	Pathogenic	Coding sequence variant, stop gained
rs1060503463	A>C	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1060503466	CATT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060503467	C>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1060503480	G>C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, downstream transcript variant
rs1060503483	->T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant
rs1060503485	C>-	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1060504925	TAAAA>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs1064793210	A>-	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1064795037	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1064795634	GAAT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1064795816	C>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1178384498	CCTT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1198614767	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, intron variant, stop gained
rs1199711768	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1238152597	ATTT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1309274168	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs1345924774	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1349928568	T>-,TT	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, splice donor variant
rs1364533250	C>T	Likely-pathogenic	Splice donor variant
rs1394437421	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1394578008	C>T	Likely-pathogenic	Splice acceptor variant
rs1444306607	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1456827107	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1487002693	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1554554265	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554554267	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554555782	CGAGCATGATGAGCTATTAGATC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554555835	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554556454	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, splice donor variant
rs1554556485	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554556544	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1554556587	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554556880	CAGAT>-	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, splice donor variant
rs1554558270	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs1554558319	TTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs1554558406	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs1554558423	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs1554558449	AGAT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs1554558472	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs1554558613	C>A	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554559028	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554559038	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559083	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559094	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1554559212	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1554559314	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559323	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554559348	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559373	T>C	Likely-pathogenic	Splice acceptor variant
rs1554560352	A>C	Likely-pathogenic	Splice donor variant
rs1554560432	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1554560523	C>G	Likely-pathogenic	Splice acceptor variant
rs1554562083	C>A	Likely-pathogenic	Splice donor variant
rs1554562110	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554562185	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554563822	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554563861	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554563878	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554563955	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554564205	T>A	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554564297	ATCAAGAGGTGGG>CAA	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554564309	->T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554566613	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant
rs1554566678	TTC>A	Pathogenic	Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant
rs1554567847	->A	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554567892	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554567902	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554567960	AAAG>GT	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554567972	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568029	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568340	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568344	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568348	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568427	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554569106	TTTCCTT>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs1563497529	TACCTAAAAAGAT>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant
rs1563525004	C>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563525210	T>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563525678	->C	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563526063	TT>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563526747	->G	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563539146	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1563548315	CTGTAC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1563548624	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1563549036	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563559078	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563561558	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563578540	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563578596	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563578727	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563580433	A>C	Likely-pathogenic	Splice donor variant
rs1563580865	->AGTTC	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563581193	A>C,G	Likely-benign, pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant, stop gained
rs1586024147	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1586035111	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1586043528	CA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant
rs1586052622	A>G	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1586052851	->G	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586052920	T>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586053378	->A	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586053399	G>A	Pathogenic	Stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586054483	GT>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586058444	->A	Pathogenic	Coding sequence variant, stop gained
rs1586058892	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586059584	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586065938	C>A	Pathogenic	Coding sequence variant, stop gained
rs1586075907	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586075954	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586076299	C>T	Likely-pathogenic	Splice acceptor variant
rs1586086338	CCATTAT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, initiator codon variant
rs1586086621	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1586088347	C>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, splice donor variant
rs1586088503	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1586088924	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1586101154	A>G	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs1586101198	->GCTGCTTCTTGGACTCA	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586101226	->T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586101561	->A	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586101609	->T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586108633	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1586108714	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1586108827	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021833	hsa-miR-132-3p	Microarray	17612493
MIRT024642	hsa-miR-215-5p	Microarray	19074876
MIRT026789	hsa-miR-192-5p	Microarray	19074876
MIRT1174808	hsa-miR-101	CLIP-seq
MIRT1174809	hsa-miR-1243	CLIP-seq
MIRT1174810	hsa-miR-1253	CLIP-seq
MIRT1174811	hsa-miR-1270	CLIP-seq
MIRT1174812	hsa-miR-1273d	CLIP-seq
MIRT1174813	hsa-miR-1275	CLIP-seq
MIRT1174814	hsa-miR-1284	CLIP-seq
MIRT1174815	hsa-miR-1295	CLIP-seq
MIRT1174816	hsa-miR-1301	CLIP-seq
MIRT1174817	hsa-miR-132	CLIP-seq
MIRT1174818	hsa-miR-134	CLIP-seq
MIRT1174819	hsa-miR-139-5p	CLIP-seq
MIRT1174820	hsa-miR-144	CLIP-seq
MIRT1174821	hsa-miR-185	CLIP-seq
MIRT1174822	hsa-miR-186	CLIP-seq
MIRT1174823	hsa-miR-2113	CLIP-seq
MIRT1174824	hsa-miR-212	CLIP-seq
MIRT1174825	hsa-miR-2278	CLIP-seq
MIRT1174826	hsa-miR-2682	CLIP-seq
MIRT1174827	hsa-miR-297	CLIP-seq
MIRT1174828	hsa-miR-3118	CLIP-seq
MIRT1174829	hsa-miR-3124-3p	CLIP-seq
MIRT1174830	hsa-miR-3133	CLIP-seq
MIRT1174831	hsa-miR-3146	CLIP-seq
MIRT1174832	hsa-miR-3149	CLIP-seq
MIRT1174833	hsa-miR-3164	CLIP-seq
MIRT1174834	hsa-miR-3170	CLIP-seq
MIRT1174835	hsa-miR-3174	CLIP-seq
MIRT1174836	hsa-miR-3200-5p	CLIP-seq
MIRT1174837	hsa-miR-3202	CLIP-seq
MIRT1174838	hsa-miR-3545-3p	CLIP-seq
MIRT1174839	hsa-miR-3617	CLIP-seq
MIRT1174840	hsa-miR-3667-5p	CLIP-seq
MIRT1174841	hsa-miR-3675-5p	CLIP-seq
MIRT1174842	hsa-miR-3714	CLIP-seq
MIRT1174843	hsa-miR-3922-5p	CLIP-seq
MIRT1174844	hsa-miR-3929	CLIP-seq
MIRT1174845	hsa-miR-3936	CLIP-seq
MIRT1174846	hsa-miR-3973	CLIP-seq
MIRT1174847	hsa-miR-3978	CLIP-seq
MIRT1174848	hsa-miR-410	CLIP-seq
MIRT1174849	hsa-miR-4251	CLIP-seq
MIRT1174850	hsa-miR-4292	CLIP-seq
MIRT1174851	hsa-miR-4299	CLIP-seq
MIRT1174852	hsa-miR-4306	CLIP-seq
MIRT1174853	hsa-miR-4308	CLIP-seq
MIRT1174854	hsa-miR-4419b	CLIP-seq
MIRT1174855	hsa-miR-4456	CLIP-seq
MIRT1174856	hsa-miR-4468	CLIP-seq
MIRT1174857	hsa-miR-4476	CLIP-seq
MIRT1174858	hsa-miR-4478	CLIP-seq
MIRT1174859	hsa-miR-4496	CLIP-seq
MIRT1174860	hsa-miR-449c	CLIP-seq
MIRT1174861	hsa-miR-4525	CLIP-seq
MIRT1174862	hsa-miR-4531	CLIP-seq
MIRT1174863	hsa-miR-4533	CLIP-seq
MIRT1174864	hsa-miR-4644	CLIP-seq
MIRT1174865	hsa-miR-4660	CLIP-seq
MIRT1174866	hsa-miR-4665-5p	CLIP-seq
MIRT1174867	hsa-miR-4693-3p	CLIP-seq
MIRT1174868	hsa-miR-4704-5p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT1174870	hsa-miR-4717-5p	CLIP-seq
MIRT1174871	hsa-miR-4723-5p	CLIP-seq
MIRT1174872	hsa-miR-4760-3p	CLIP-seq
MIRT1174873	hsa-miR-4765	CLIP-seq
MIRT1174874	hsa-miR-4766-5p	CLIP-seq
MIRT1174875	hsa-miR-4789-5p	CLIP-seq
MIRT1174876	hsa-miR-5047	CLIP-seq
MIRT1174877	hsa-miR-513a-3p	CLIP-seq
MIRT1174878	hsa-miR-520g	CLIP-seq
MIRT1174879	hsa-miR-520h	CLIP-seq
MIRT1174880	hsa-miR-548a-3p	CLIP-seq
MIRT1174881	hsa-miR-548e	CLIP-seq
MIRT1174882	hsa-miR-548f	CLIP-seq
MIRT1174883	hsa-miR-548q	CLIP-seq
MIRT1174884	hsa-miR-548v	CLIP-seq
MIRT1174885	hsa-miR-552	CLIP-seq
MIRT1174886	hsa-miR-561	CLIP-seq
MIRT1174887	hsa-miR-570	CLIP-seq
MIRT1174888	hsa-miR-579	CLIP-seq
MIRT1174889	hsa-miR-587	CLIP-seq
MIRT1174890	hsa-miR-599	CLIP-seq
MIRT1174891	hsa-miR-620	CLIP-seq
MIRT1174892	hsa-miR-625	CLIP-seq
MIRT1174893	hsa-miR-635	CLIP-seq
MIRT1174894	hsa-miR-641	CLIP-seq
MIRT1174895	hsa-miR-643	CLIP-seq
MIRT1174896	hsa-miR-656	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT1174898	hsa-miR-875-3p	CLIP-seq
MIRT1174809	hsa-miR-1243	CLIP-seq
MIRT1174814	hsa-miR-1284	CLIP-seq
MIRT2050565	hsa-miR-1323	CLIP-seq
MIRT2050566	hsa-miR-2054	CLIP-seq
MIRT1174827	hsa-miR-297	CLIP-seq
MIRT1174830	hsa-miR-3133	CLIP-seq
MIRT2050567	hsa-miR-3148	CLIP-seq
MIRT1174832	hsa-miR-3149	CLIP-seq
MIRT1174840	hsa-miR-3667-5p	CLIP-seq
MIRT1174841	hsa-miR-3675-5p	CLIP-seq
MIRT1174848	hsa-miR-410	CLIP-seq
MIRT2050568	hsa-miR-4267	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT1174857	hsa-miR-4476	CLIP-seq
MIRT2050570	hsa-miR-4477a	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT1174868	hsa-miR-4704-5p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT1174875	hsa-miR-4789-5p	CLIP-seq
MIRT2050572	hsa-miR-4797-3p	CLIP-seq
MIRT2050573	hsa-miR-548o	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT1174895	hsa-miR-643	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT2050575	hsa-miR-889	CLIP-seq
MIRT1174808	hsa-miR-101	CLIP-seq
MIRT2279719	hsa-miR-1226	CLIP-seq
MIRT2279720	hsa-miR-1248	CLIP-seq
MIRT1174812	hsa-miR-1273d	CLIP-seq
MIRT2279721	hsa-miR-1287	CLIP-seq
MIRT1174816	hsa-miR-1301	CLIP-seq
MIRT2279722	hsa-miR-130a	CLIP-seq
MIRT2279723	hsa-miR-130b	CLIP-seq
MIRT1174817	hsa-miR-132	CLIP-seq
MIRT1174819	hsa-miR-139-5p	CLIP-seq
MIRT1174820	hsa-miR-144	CLIP-seq
MIRT2050566	hsa-miR-2054	CLIP-seq
MIRT1174824	hsa-miR-212	CLIP-seq
MIRT2279724	hsa-miR-2392	CLIP-seq
MIRT1174826	hsa-miR-2682	CLIP-seq
MIRT2279725	hsa-miR-301a	CLIP-seq
MIRT2279726	hsa-miR-301b	CLIP-seq
MIRT2279727	hsa-miR-31	CLIP-seq
MIRT2279728	hsa-miR-3135b	CLIP-seq
MIRT2279729	hsa-miR-3165	CLIP-seq
MIRT2279730	hsa-miR-3171	CLIP-seq
MIRT1174835	hsa-miR-3174	CLIP-seq
MIRT1174837	hsa-miR-3202	CLIP-seq
MIRT2279731	hsa-miR-329	CLIP-seq
MIRT2279732	hsa-miR-34c-3p	CLIP-seq
MIRT2279733	hsa-miR-362-3p	CLIP-seq
MIRT2279734	hsa-miR-3646	CLIP-seq
MIRT2279735	hsa-miR-3662	CLIP-seq
MIRT2279736	hsa-miR-3666	CLIP-seq
MIRT2279737	hsa-miR-3668	CLIP-seq
MIRT2279738	hsa-miR-3692	CLIP-seq
MIRT1174842	hsa-miR-3714	CLIP-seq
MIRT1174843	hsa-miR-3922-5p	CLIP-seq
MIRT2279739	hsa-miR-3927	CLIP-seq
MIRT2279740	hsa-miR-3941	CLIP-seq
MIRT2279741	hsa-miR-4276	CLIP-seq
MIRT2279742	hsa-miR-4287	CLIP-seq
MIRT2279743	hsa-miR-4295	CLIP-seq
MIRT1174851	hsa-miR-4299	CLIP-seq
MIRT2279744	hsa-miR-4302	CLIP-seq
MIRT1174855	hsa-miR-4456	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT2279745	hsa-miR-4477b	CLIP-seq
MIRT1174860	hsa-miR-449c	CLIP-seq
MIRT1174863	hsa-miR-4533	CLIP-seq
MIRT2279746	hsa-miR-454	CLIP-seq
MIRT1174865	hsa-miR-4660	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT2279747	hsa-miR-4685-3p	CLIP-seq
MIRT1174867	hsa-miR-4693-3p	CLIP-seq
MIRT2279748	hsa-miR-4698	CLIP-seq
MIRT2279749	hsa-miR-4708-3p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT2279750	hsa-miR-4724-3p	CLIP-seq
MIRT1174872	hsa-miR-4760-3p	CLIP-seq
MIRT2279751	hsa-miR-4761-5p	CLIP-seq
MIRT1174873	hsa-miR-4765	CLIP-seq
MIRT2279752	hsa-miR-494	CLIP-seq
MIRT2279753	hsa-miR-499-3p	CLIP-seq
MIRT2279754	hsa-miR-499a-3p	CLIP-seq
MIRT1174876	hsa-miR-5047	CLIP-seq
MIRT2279755	hsa-miR-513a-5p	CLIP-seq
MIRT2279756	hsa-miR-513b	CLIP-seq
MIRT2279757	hsa-miR-548ag	CLIP-seq
MIRT2279758	hsa-miR-548ai	CLIP-seq
MIRT1174883	hsa-miR-548q	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT1174884	hsa-miR-548v	CLIP-seq
MIRT1174885	hsa-miR-552	CLIP-seq
MIRT1174887	hsa-miR-570	CLIP-seq
MIRT2279759	hsa-miR-603	CLIP-seq
MIRT2279760	hsa-miR-640	CLIP-seq
MIRT2050575	hsa-miR-889	CLIP-seq
MIRT2279735	hsa-miR-3662	CLIP-seq
MIRT2279719	hsa-miR-1226	CLIP-seq
MIRT2279720	hsa-miR-1248	CLIP-seq
MIRT1174812	hsa-miR-1273d	CLIP-seq
MIRT2279721	hsa-miR-1287	CLIP-seq
MIRT1174829	hsa-miR-3124-3p	CLIP-seq
MIRT2279728	hsa-miR-3135b	CLIP-seq
MIRT2279730	hsa-miR-3171	CLIP-seq
MIRT2578360	hsa-miR-3194-5p	CLIP-seq
MIRT2578361	hsa-miR-3591-3p	CLIP-seq
MIRT2578362	hsa-miR-3655	CLIP-seq
MIRT1174840	hsa-miR-3667-5p	CLIP-seq
MIRT2279737	hsa-miR-3668	CLIP-seq
MIRT1174845	hsa-miR-3936	CLIP-seq
MIRT2050568	hsa-miR-4267	CLIP-seq
MIRT2279742	hsa-miR-4287	CLIP-seq
MIRT1174851	hsa-miR-4299	CLIP-seq
MIRT1174855	hsa-miR-4456	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT2578363	hsa-miR-4528	CLIP-seq
MIRT2578364	hsa-miR-4646-3p	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT2279747	hsa-miR-4685-3p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT2578365	hsa-miR-4732-5p	CLIP-seq
MIRT2578366	hsa-miR-4733-3p	CLIP-seq
MIRT2578367	hsa-miR-4786-3p	CLIP-seq
MIRT2050572	hsa-miR-4797-3p	CLIP-seq
MIRT2279755	hsa-miR-513a-5p	CLIP-seq
MIRT1174883	hsa-miR-548q	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT2578368	hsa-miR-549	CLIP-seq
MIRT1174885	hsa-miR-552	CLIP-seq
MIRT1174887	hsa-miR-570	CLIP-seq
MIRT1174889	hsa-miR-587	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT2279719	hsa-miR-1226	CLIP-seq
MIRT2279720	hsa-miR-1248	CLIP-seq
MIRT2279721	hsa-miR-1287	CLIP-seq
MIRT2685874	hsa-miR-3120-3p	CLIP-seq
MIRT2279728	hsa-miR-3135b	CLIP-seq
MIRT2685875	hsa-miR-331-5p	CLIP-seq
MIRT2685876	hsa-miR-338-5p	CLIP-seq
MIRT2578361	hsa-miR-3591-3p	CLIP-seq
MIRT2685877	hsa-miR-3919	CLIP-seq
MIRT2685878	hsa-miR-3925-5p	CLIP-seq
MIRT2279742	hsa-miR-4287	CLIP-seq
MIRT2685879	hsa-miR-4432	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT2578363	hsa-miR-4528	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT2279747	hsa-miR-4685-3p	CLIP-seq
MIRT2578366	hsa-miR-4733-3p	CLIP-seq
MIRT2578367	hsa-miR-4786-3p	CLIP-seq
MIRT2685880	hsa-miR-499-5p	CLIP-seq
MIRT2279755	hsa-miR-513a-5p	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT2578368	hsa-miR-549	CLIP-seq
MIRT1174886	hsa-miR-561	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT2685881	hsa-miR-885-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SIRT1	Activation	18692496

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IDA	12529385
GO:0000723	Process	Telomere maintenance	IDA	28216226
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	IMP	11448772
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	10802669, 29670289, 30612738
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	22464731, 23115235, 27814491, 27889449, 28867292, 30787182, 30952868, 38961290
GO:0000729	Process	DNA double-strand break processing	IDA	10802669, 15064416, 15790808, 26240375
GO:0000729	Process	DNA double-strand break processing	IDA	16622404
GO:0000729	Process	DNA double-strand break processing	NAS	26512707
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	28216226
GO:0000781	Component	Chromosome, telomeric region	IDA	10888888
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001832	Process	Blastocyst growth	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IC	9590180
GO:0003684	Function	Damaged DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9590181, 12419185, 12470659, 12607005, 15916964, 16377563, 17500065, 17612497, 18001824, 18001825, 18583988, 18678890, 19609304, 19683501, 19759395, 19804756, 20224574, 21108945, 22078559, 22157895, 22565321, 24534091, 24651726, 24981860, 25064736, 25558984, 25895060, 26869104, 2756
GO:0005634	Component	Nucleus	IDA	10888888
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	18171670
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	10888888
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IDA	9590181
GO:0006302	Process	Double-strand break repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IBA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IDA	11438675
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0016605	Component	PML body	IDA	10811102, 12470659
GO:0016605	Component	PML body	IEA
GO:0030174	Process	Regulation of DNA-templated DNA replication initiation	TAS	9590181
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	TAS	9590181
GO:0030870	Component	Mre11 complex	IBA
GO:0030870	Component	Mre11 complex	IDA	9590181, 10888888, 19151086, 27889449, 28867292, 30787182, 38961290
GO:0030870	Component	Mre11 complex	IEA
GO:0030870	Component	Mre11 complex	IPI	31147924
GO:0030870	Component	Mre11 complex	TAS	27918544
GO:0031848	Process	Protection from non-homologous end joining at telomere	IDA	28216226
GO:0031848	Process	Protection from non-homologous end joining at telomere	IEA
GO:0031860	Process	Telomeric 3' overhang formation	IMP	16374507
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	16374507
GO:0035825	Process	Homologous recombination	NAS	30657944
GO:0035861	Component	Site of double-strand break	IDA	16622404, 18411307, 18582474, 18583988, 18678890, 19338747, 23115235, 24534091, 28867292, 38961290
GO:0035861	Component	Site of double-strand break	IDA	15916964
GO:0042393	Function	Histone binding	IPI	19338747
GO:0042405	Component	Nuclear inclusion body	IDA	12447371
GO:0043247	Process	Telomere maintenance in response to DNA damage	IDA	28216226
GO:0043247	Process	Telomere maintenance in response to DNA damage	IEA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	16622404
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045190	Process	Isotype switching	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	TAS	9590181
GO:0062176	Process	R-loop processing	IDA	31537797
GO:0070533	Component	BRCA1-C complex	IPI	16391231
GO:0070534	Process	Protein K63-linked ubiquitination	ISS
GO:0090656	Process	T-circle formation	IMP	27918544
GO:0090737	Process	Telomere maintenance via telomere trimming	IGI	27918544
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	IDA	28216226
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	IEA
GO:0098687	Component	Chromosomal region	NAS	26512707
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	29670289, 30612738
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	27814491, 27889449, 30787182
GO:0110025	Process	DNA strand resection involved in replication fork processing	IMP	26240375
GO:0110025	Process	DNA strand resection involved in replication fork processing	NAS	29709199
GO:0140031	Function	Phosphorylation-dependent protein binding	IDA	18411307, 18582474, 18583988, 18678890, 19804756, 24534091, 27814491, 30787182
GO:0140297	Function	DNA-binding transcription factor binding	IPI	11486038
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	18411307, 18583988, 19804756, 24534091, 27814491, 27889449, 28216226, 30787182, 38961290
GO:0140463	Function	Chromatin-protein adaptor activity	IEA
GO:1904354	Process	Negative regulation of telomere capping	IMP	17694070
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	ISS
GO:1990166	Process	Protein localization to site of double-strand break	IDA	18411307, 18583988, 24534091, 27814491, 27889449
GO:2000781	Process	Positive regulation of double-strand break repair	IMP	15790808

Other IDs

• MIM: 602667
• HGNC: 7652
• e!Ensembl: ENSG00000104320

Protein

• UniProt ID: O60934
• Protein name: Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1) (hNbs1)
• Protein function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:10888888, PubMed:15616588, PubMed:18411307, PubMed:18583988, PubMed:18678890,
• PDB: 5WQD, 7SID, 8BAH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00498	FHA	24 → 100	FHA domain	Family
  PF16508	NIBRIN_BRCT_II	216 → 325	Second BRCT domain on Nijmegen syndrome breakage protein	Domain
  PF08599	Nbs1_C	683 → 746	DNA damage repair protein Nbs1	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous (PubMed:9590180). Expressed at high levels in testis (PubMed:9590180). {ECO:0000269|PubMed:9590180}.
• Sequence:

  MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQT
  DEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL
  DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEF
  LKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
  AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ
  GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT
  TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT
  LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS
  ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSH
  AAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN
  DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFR
  SLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE
  EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR

• Sequence length: 754

Pathways

KEGG:

Homologous recombination
Cellular senescence

Reactome:

DNA Damage/Telomere Stress Induced Senescence
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute lymphoid leukemia	Likely pathogenic; Pathogenic	rs1391598284, rs2129744741, rs1275657359, rs2129695663, rs587780100, rs2129721628, rs587781969, rs587782545, rs730881864, rs1554559152, rs786201745, rs764884516, rs786202494, rs574673404, rs767215758, rs786205135, rs762664474, rs2129915273, rs587776650, rs864622143, rs864622090, rs756363734, rs766044684, rs745355767, rs1057516320, rs767454740, rs1060503467, rs1064793210, rs751567476, rs759232053, rs1554566678, rs1554564297, rs1554558472, rs1349928568, rs1554559373, rs1178384498, rs779098734, rs1238152597, rs750375741, rs1563561558, rs1563539146, rs778306619, rs771475965, rs1554559094, rs121908974, rs1586088924, rs1812023981	RCV005040241 RCV002476731 RCV005040268 RCV005040406 RCV002498497 RCV005042594 RCV005042256 RCV000763606 RCV000515171 RCV005050571 RCV005042327 RCV002485031 RCV005042331 RCV005042333 RCV000763607 RCV005042367 RCV002503780 RCV005050700 RCV005041999 RCV002478725 RCV002057048 RCV005049492 RCV005044459 RCV002505995 RCV002504201 RCV000502852 RCV002496787 RCV005044708 RCV002497023 RCV005044853 RCV005044852 RCV001328957 RCV002491128 RCV005044839 RCV005049609 RCV005051712 RCV005044867 RCV005044868 RCV005044924 RCV005046845 RCV005046963 RCV004796811 RCV005049686 RCV005047025 RCV005049697 RCV005047201 RCV005047214 RCV005047271	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aplastic anemia	Likely pathogenic; Pathogenic	rs1554562083, rs1811497703, rs1391598284, rs1586040200, rs2129720196, rs2129744741, rs1554566610, rs1275657359, rs2129915767, rs772909239, rs2129695663, rs587780100, rs2129938178, rs2129721628, rs12721593, rs1810267412, rs2130756322, rs748453607, rs2129720423, rs1586054199, rs1554558199, rs587781305, rs587781891, rs587781969, rs587782130, rs587782545, rs2488355999, rs730881864, rs730881857, rs730881850, rs730881839, rs1554559152, rs142301194, rs786201745, rs764884516, rs786202490, rs786202494, rs768378152, rs574673404, rs766044684, rs2488191739, rs767215758, rs786205135, rs762664474, rs2129915273, rs587776650, rs864309668, rs121908974, rs864622143, rs864622090, rs864622511, rs864622253, rs786201965, rs756363734, rs876659521, rs876659592, rs2488310464, rs2129747101, rs2488232425, rs2488242223, rs2488233110, rs2488234559, rs2488234618, rs745439506, rs34120922, rs2488361767, rs1060503467, rs2488228635, rs864309670, rs2488232437, rs2488243439, rs2488242656, rs2488310308, rs769239902, rs1810031465, rs2488380200, rs2488356840, rs2488209630, rs2488261096, rs780470185, rs2488260127, rs2488163550, rs1563581276, rs1258938703, rs2488233039, rs2488230522, rs1057517262, rs1057516668, rs1057516611, rs745355767, rs1057516320, rs1057516772, rs931715719, rs767454740, rs1057519587, rs1060503483, rs1064795816, rs1064793210, rs751567476, rs780235686, rs759232053, rs1554558613, rs1554566678, rs1554567892, rs1554564297, rs1554558472, rs1554559083, rs1349928568, rs1554559373, rs1178384498, rs779098734, rs1198614767, rs1554558449, rs1554568427, rs748513310, rs1238152597, rs760237820, rs1554562110, rs750375741, rs758708229, rs1563578540, rs1563526747, rs1563559078, rs1563561558, rs772005832, rs1563539146, rs778306619, rs771475965, rs1586052851, rs1554559094, rs1586075907, rs1586101154, rs1586059584, rs1586088924, rs1810540992, rs772411713, rs1812023981, rs1036111786, rs1811144443, rs1337679118, rs1563579387	RCV003471373 RCV003473905 RCV005040241 RCV003469707 RCV003469745 RCV002476731 RCV003469651 RCV003469758 RCV003470849 RCV003470874 RCV005040406 RCV002498497 RCV003475213 RCV005042594 RCV003470998 RCV004571457 RCV003464286 RCV003475215 RCV003470979 RCV003475133 RCV004571430 RCV003467101 RCV003460916 RCV003467143 RCV003467153 RCV000763606 RCV004572273 RCV000515171 RCV003467263 RCV003467262 RCV003467257 RCV004572330 RCV004572399 RCV003474858 RCV005042327 RCV002485031 RCV003462169 RCV005042331 RCV003468774 RCV003468760 RCV003465729 RCV004572726 RCV003474919 RCV003468849 RCV002503780 RCV005050700 RCV003460432 RCV004566687 RCV003472997 RCV002478725 RCV002057048 RCV003474983 RCV003468934 RCV004567540 RCV003469077 RCV003469104 RCV003475021 RCV003475023 RCV003463095 RCV003476513 RCV003470290 RCV003470291 RCV003470292 RCV003470294 RCV003470295 RCV003470296 RCV003470300 RCV003470304 RCV003476518 RCV003476519 RCV003470306 RCV003476520 RCV003470307 RCV003476521 RCV003470308 RCV003470309 RCV003470310 RCV003463096 RCV003470311 RCV003463097 RCV003471375 RCV003471376 RCV003471377 RCV003471378 RCV004576295 RCV004576299 RCV004576301 RCV004576304 RCV004576308 RCV003470351 RCV003470329 RCV003470328 RCV002505995 RCV002504201 RCV003475956 RCV003475941 RCV002502428 RCV003470374 RCV003470491 RCV003470490 RCV004568079 RCV003470579 RCV005044708 RCV002497023 RCV003470737 RCV003459221 RCV003465242 RCV004569156 RCV005044852 RCV003470830 RCV003476333 RCV002491128 RCV004569121 RCV003476332 RCV003471930 RCV005051712 RCV003471931 RCV005044868 RCV003465314 RCV003459460 RCV003471944 RCV003471998 RCV003465395 RCV003459521 RCV003472056 RCV003465426 RCV003472052 RCV003472198 RCV004568588 RCV003472227 RCV005046963 RCV003465613 RCV003470297 RCV003465700 RCV003465698 RCV004569734 RCV003467379 RCV003467574 RCV003467575 RCV004569961 RCV005047201 RCV003467683 RCV003473674 RCV003467785 RCV003462589 RCV003462754 RCV003462739 RCV003473744 RCV003469334	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs574673404, rs587776650, rs876659592, rs1810540992, rs1563530658, rs1812244679	RCV001270989 RCV001270991 RCV001270988 RCV001270950 RCV001270949 RCV001270990	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Pathogenic	rs587776650, rs748513310, rs748453607	RCV001574072 RCV001554322 RCV001564018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs574673404, rs587776650	RCV001310161 RCV000007354	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of pancreas	Pathogenic	rs587776650	RCV001391203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs775397477	RCV005912603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic; Likely pathogenic	rs587776650, rs864622253, rs1554558472	RCV001535498 RCV001824684 RCV001005050	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer	Pathogenic	rs587776650	RCV005055345	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs1586054199, rs2488163550, rs2129697994, rs1586086585, rs2488361684, rs2488190796, rs1057517104, rs1057516320, rs1349928568, rs778306619, rs1586108714	RCV003164199 RCV003164558 RCV003164559 RCV003164560 RCV003164617 RCV003164662 RCV003168594 RCV003168586 RCV003159982 RCV003166060 RCV003166237	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Pathogenic	rs587776650	RCV002280859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs767454740, rs1554567892, rs1554568427, rs750375741, rs1812139426	RCV000587195 RCV005357647 RCV000586448 RCV005357872 RCV001289551	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2129716262, rs781710700, rs1586040200, rs1279184426, rs755805461, rs2129720196, rs2129744741, rs1554566610, rs2129915522, rs1275657359, rs2129695663, rs587780100, rs1586075690, rs1810183784, rs2129914287, rs2129721628, rs587777931, rs1810267412, rs1810856747, rs2129827996, rs2129909528, rs2129659855, rs1554558199, rs587781305, rs587781718, rs587781891, rs587781969, rs587782130, rs587782147, rs587782344, rs587782545, rs587782653, rs878854516, rs2488355798, rs1252203605, rs2488355999, rs730881864, rs730881857, rs730881839, rs2129720423, rs2488355261, rs2488344564, rs730881861, rs2488244167, rs1554559177, rs2488369262, rs2488380221, rs1554559152, rs2488243594, rs2488234315, rs142301194, rs786203223, rs786203920, rs786201745, rs764884516, rs786202490, rs786203662, rs786202494, rs768378152, rs574673404, rs2488283819, rs1418547527, rs766044684, rs2488361727, rs2129916685, rs2488232692, rs2488368219, rs2488229897, rs2488230324, rs2488230389, rs2488361722, rs2488209699, rs1057517262, rs2488202742, rs2488191186, rs2479648691, rs767215758, rs786205135, rs1217913746, rs1221760506, rs2488315047, rs762664474, rs2488356977, rs587776650, rs864309669, rs121908973, rs864309670, rs864622143, rs864622090, rs864622253, rs786201965, rs756363734, rs876660290, rs876659521, rs876659592, rs876659305, rs2488191393, rs2488232901, rs2488242273, rs2488310308, rs2488369879, rs2488245534, rs1586043842, rs2488233039, rs1057517075, rs1057516668, rs1057516611, rs776417262, rs1057516332, rs1057517104, rs1057516320, rs1057516772, rs931715719, rs767454740, rs1057519587, rs1554560432, rs1060503463, rs1060503466, rs1060503483, rs1060503467, rs1064795816, rs751567476, rs1064793210, rs780235686, rs1554562083, rs1554556485, rs1554556587, rs1554558423, rs759232053, rs1554558319, rs1554558613, rs1554559323, rs1057517209, rs1554566678, rs1554567892, rs1554563861, rs1554564297, rs1554558406, rs1554569106, rs1554558472, rs1554562185, rs1554559083, rs1394437421, rs1554568029, rs1364533250, rs1199711768, rs1554556454, rs1455928001, rs1349928568, rs1178384498, rs779098734, rs1554568427, rs748513310, rs1238152597, rs760237820, rs750375741, rs758708229, rs1563497529, rs1563578540, rs1563578596, rs1563525004, rs1563526747, rs1563559078, rs1563561558, rs772005832, rs771475965, rs1563516254, rs1586052851, rs1586058444, rs1554559212, rs1586108714, rs1586101154, rs1586054483, rs1586058892, rs1586059584, rs121908974, rs1586065938, rs1586086338, rs1586086621, rs1586088503, rs1586088924, rs1586101198, rs1586101226, rs1586101609, rs1586108633, rs1586024147, rs1586076299, rs1810540992, rs772411713, rs377730553, rs1811862598, rs1812023357, rs1337679118, rs1563579387, rs876658535	RCV002395862 RCV002456595 RCV002420859 RCV002404905 RCV004945110 RCV002368227 RCV004037684 RCV002357286 RCV002449079 RCV002341832 RCV002406900 RCV000115804 RCV002386888 RCV004041330 RCV002440930 RCV003289305 RCV003162555 RCV002406960 RCV002386816 RCV003348687 RCV002359320 RCV002407175 RCV002406928 RCV000129019 RCV000129902 RCV000130227 RCV000130355 RCV000130673 RCV000130711 RCV000131283 RCV000131755 RCV000132067 RCV003308128 RCV002323232 RCV002375739 RCV002333222 RCV000215628 RCV000160795 RCV000160766 RCV002364345 RCV002337877 RCV002330745 RCV002340901 RCV002391594 RCV002378795 RCV002373917 RCV002383144 RCV002383218 RCV002383238 RCV002391896 RCV000164379 RCV000166440 RCV000167435 RCV000164194 RCV000166379 RCV000165330 RCV000167070 RCV000165335 RCV000166151 RCV000165888 RCV002382901 RCV002403542 RCV002403667 RCV002399060 RCV002399073 RCV002403264 RCV002398881 RCV002398987 RCV002406125 RCV002406156 RCV002407601 RCV002415039 RCV002412905 RCV002425469 RCV002421648 RCV002430562 RCV002443645 RCV000446931 RCV000772328 RCV003161760 RCV003167840 RCV004064993 RCV001014466 RCV004068644 RCV000133576 RCV003343598 RCV000166946 RCV001525344 RCV000217030 RCV000222760 RCV000221111 RCV000222103 RCV000222999 RCV000221563 RCV000213986 RCV000223218 RCV000221586 RCV000213118 RCV003172485 RCV003172490 RCV003358420 RCV004364788 RCV004369378 RCV004513817 RCV004513828 RCV004654400 RCV001014719 RCV001805031 RCV000566195 RCV001525393 RCV002402097 RCV004022134 RCV002365446 RCV001176293 RCV000566032 RCV001012839 RCV000584632 RCV002374624 RCV004022887 RCV002365663 RCV001013351 RCV000582798 RCV000570201 RCV000573618 RCV001184207 RCV000575658 RCV000569604 RCV002420406 RCV000755042 RCV002367818 RCV000567898 RCV000574244 RCV000561057 RCV000564904 RCV000572023 RCV000571949 RCV000569344 RCV000569288 RCV000574501 RCV000568920 RCV000569113 RCV000572150 RCV000572469 RCV000564317 RCV000562848 RCV000574627 RCV000568444 RCV000569950 RCV000573746 RCV000564232 RCV000574950 RCV000564864 RCV000573403 RCV000580887 RCV004513825 RCV000584003 RCV000582656 RCV000581960 RCV001013002 RCV002343244 RCV001010571 RCV002388046 RCV000775394 RCV001024899 RCV004026108 RCV002388183 RCV002424617 RCV002334278 RCV002334343 RCV002397412 RCV004026245 RCV001189634 RCV001025628 RCV002352187 RCV000775385 RCV000775396 RCV002406705 RCV003166371 RCV002381840 RCV002415924 RCV004028167 RCV001024591 RCV001011801 RCV001010617 RCV001017460 RCV001009876 RCV001017079 RCV001018369 RCV001027360 RCV001025586 RCV001024655 RCV001024219 RCV001024355 RCV001023278 RCV001016416 RCV001014894 RCV001018577 RCV002402432 RCV004031809 RCV001186594 RCV001185847 RCV002327522 RCV002411748 RCV003346362 RCV003294092 RCV002393580	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly	Pathogenic	rs587776650	RCV000415248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Likely pathogenic; Pathogenic	rs864622253	RCV001824684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs1349928568	RCV003448981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs587780100, rs730881857, rs587776650, rs1554558613	RCV001354502 RCV001535781 RCV001357671 RCV001356206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs587776650	RCV000415248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic; Pathogenic	rs75823099, rs2130755572, rs2130755743, rs775397477, rs2129659522, rs2129716262, rs2488242045, rs2129747182, rs1811497703, rs1586088924, rs1391598284, rs781710700, rs2130755275, rs1038132485, rs1586040200, rs2129647483, rs1554556544, rs2129648967, rs2129696816, rs1279184426, rs2129701175, rs772411713, rs755805461, rs2129717307, rs2129720196, rs2129721263, rs1554559308, rs2129744741, rs2129829309, rs1554566610, rs2129889298, rs2129915522, rs767454740, rs2129925072, rs2129926091, rs1275657359, rs2129908974, rs2129915767, rs772909239, rs2129745554, rs1554556454, rs2129695663, rs587780100, rs1586075690, rs2129914556, rs1810183784, rs2130755717, rs2129914287, rs2129938178, rs2129721628, rs931715719, rs587777931, rs2129700612, rs12721593, rs2129916685, rs786202494, rs2130755422, rs2129915884, rs1810267412, rs751567476, rs2129827880, rs2129699105, rs2129910740, rs2130756322, rs748453607, rs1810856747, rs2129744712, rs2129745511, rs2129827996, rs2129909528, rs2129720423, rs1586054199, rs2129659855, rs2129647777, rs2129910401, rs2130755261, rs2129888420, rs2129915990, rs786203223, rs2129721709, rs2129910887, rs2129722387, rs2129924518, rs2129704501, rs1811464271, rs2129829803, rs2129838943, rs2129925355, rs1554558199, rs2130763590, rs587781305, rs2130755457, rs587781718, rs2130739402, rs2129704309, rs2129699596, rs587781891, rs587781969, rs587782130, rs587782147, rs587782545, rs1586075907, rs2488231541, rs2488202605, rs878854516, rs2488201562, rs2488203306, rs2129914127, rs2488369850, rs2488243337, rs2488232032, rs2488229290, rs2488209329, rs1057516787, rs2488230409, rs2488359906, rs2488368531, rs1418547527, rs730881864, rs730881857, rs730881850, rs730881839, rs2488355261, rs1554559152, rs142301194, rs786203920, rs786201745, rs764884516, rs786202490, rs786203662, rs768378152, rs574673404, rs786204181, rs2488191739, rs767215758, rs786205135, rs1217913746, rs2488260845, rs2488343766, rs2488311222, rs587781557, rs2488191378, rs2488369449, rs2488209131, rs1221760506, rs2488369617, rs2488201331, rs2488315047, rs1057517102, rs1060503473, rs762664474, rs2488229908, rs2488361684, rs2488191040, rs2129827835, rs2488356977, rs2488309603, rs2129915273, rs2488209092, rs1586052622, rs2488284081, rs2488309283, rs587776650, rs864309668, rs864309669, rs121908973, rs121908974, rs864309670, rs864622143, rs864622333, rs864622090, rs864622511, rs864622253, rs786201965, rs876661130, rs756363734, rs766044684, rs876659521, rs876659592, rs876659305, rs2488232901, rs751497896, rs34120922, rs2488310308, rs2488209630, rs2488309193, rs2488244868, rs2488243269, rs2488233455, rs2488357436, rs2488230283, rs2488191216, rs2488369879, rs2488203294, rs2129717018, rs1586035111, rs2488209363, rs1811498255, rs2488343356, rs2129720470, rs1811862598, rs2488191721, rs2488190993, rs760275251, rs2488309656, rs2488344461, rs2488190937, rs2488360166, rs1811450946, rs2488192036, rs2488360542, rs2129647242, rs1057517262, rs1057517075, rs1057516869, rs1057516852, rs1057516668, rs1057516611, rs776417262, rs1057516332, rs1057517209, rs1057517104, rs745355767, rs1057516320, rs1057516392, rs1057516772, rs1057519588, rs1057519585, rs1057519587, rs1060503480, rs1060503485, rs1554560432, rs1060503463, rs1060503466, rs1060503483, rs1060503467, rs1064795816, rs1064795634, rs1064793210, rs1554555835, rs780235686, rs1554560523, rs1554563878, rs1554559028, rs371480039, rs1554562083, rs1554568340, rs1554556485, rs1554556587, rs1554558423, rs759232053, rs1554558613, rs1554559323, rs1554566678, rs1554567892, rs1554564297, rs1554569106, rs1554558472, rs1554562185, rs1554559083, rs1394437421, rs1364533250, rs1199711768, rs1349928568, rs1554559373, rs1178384498, rs779098734, rs1198614767, rs1554559038, rs1554563822, rs1554558449, rs1554568427, rs1554554267, rs1554567972, rs748513310, rs1554555782, rs1238152597, rs1554558270, rs760237820, rs1554560352, rs758830069, rs1554562110, rs1554563955, rs750375741, rs758708229, rs751570713, rs1554564309, rs1394578008, rs1554567902, rs1554567960, rs1554568348, rs1563525210, rs1563497529, rs1563548315, rs1563549036, rs1563578540, rs1563525678, rs1563578596, rs1563525004, rs1563526747, rs1563559078, rs1563561558, rs772005832, rs1563581193, rs1563539146, rs1563578727, rs778306619, rs771475965, rs1563516254, rs1586052851, rs1586052920, rs1586053378, rs1586053399, rs1586058444, rs1554559094, rs1554559212, rs1586101561, rs1586108714, rs1064795037, rs1586108827, rs1586088347, rs1586101154, rs1586075954, rs1586054483, rs1586059584, rs1586101609, rs1586108633, rs1586024147, rs1586076299, rs1810030774, rs1810034093, rs1810034741, rs1810038215, rs1810540992, rs1810667631, rs1811450828, rs1811506628, rs1812023981, rs61753717, rs1812140936, rs747462107, rs377730553, rs1036111786, rs1810529464, rs1811144443, rs1812023357, rs1810527499, rs1337679118, rs1563579387, rs1810270891, rs766602873, rs876658535, rs1811864250, rs1810033651, rs1810033982, rs1301956720, rs1811464751, rs1563530658, rs1812244679, rs1812139426	RCV001379478 RCV001377443 RCV001378053 RCV001378341 RCV001377502 RCV001379804 RCV003618919 RCV001377833 RCV001377651 RCV001376929 RCV001824177 RCV001378799 RCV001379215 RCV001380696 RCV001387991 RCV005614539 RCV001381045 RCV001388858 RCV001386209 RCV001390472 RCV001388904 RCV001383391 RCV001387053 RCV001385912 RCV001389205 RCV001388819 RCV001390505 RCV001388920 RCV001386835 RCV001385555 RCV001380565 RCV001382958 RCV001389521 RCV001383919 RCV001382770 RCV001385181 RCV001389546 RCV005614664 RCV002568061 RCV001873820 RCV001882742 RCV003617939 RCV001885361 RCV000193543 RCV002026037 RCV001944907 RCV001897734 RCV002012848 RCV001864972 RCV002037656 RCV001960653 RCV002034356 RCV002034449 RCV002514610 RCV001908318 RCV001884264 RCV001961761 RCV001950828 RCV002033213 RCV001884586 RCV001947519 RCV001971340 RCV001923743 RCV002007299 RCV002035348 RCV001993353 RCV001994742 RCV002002429 RCV002007159 RCV002007172 RCV001993209 RCV001870735 RCV001870780 RCV001870904 RCV001999711 RCV001942161 RCV001941965 RCV001990475 RCV002048065 RCV001946932 RCV001951046 RCV001956253 RCV001996041 RCV001939104 RCV001944055 RCV001951478 RCV001959178 RCV002010366 RCV001940815 RCV001956499 RCV001958729 RCV001949625 RCV001863317 RCV001996808 RCV000668848 RCV002023938 RCV000411130 RCV001986072 RCV001887944 RCV001890438 RCV000466522 RCV000007358 RCV000529643 RCV002514735 RCV000227700 RCV002306534 RCV002306572 RCV002306600 RCV002306733 RCV002309821 RCV002310034 RCV002307901 RCV002307965 RCV002308118 RCV002308154 RCV002308284 RCV002310126 RCV002310296 RCV002310361 RCV002310521 RCV002308406 RCV002308431 RCV000204431 RCV000409031 RCV000459098 RCV001226188 RCV003096473 RCV003094921 RCV000636785 RCV001378392 RCV002516520 RCV000456402 RCV000636722 RCV000205978 RCV001240142 RCV000457752 RCV000672694 RCV000470841 RCV005635536 RCV000168229 RCV003062170 RCV000170448 RCV000170447 RCV003089653 RCV002824531 RCV002832813 RCV002811218 RCV002797046 RCV002810693 RCV002870770 RCV002847761 RCV002875551 RCV002872059 RCV002866437 RCV002858394 RCV002894487 RCV002894701 RCV000200419 RCV002999521 RCV003003170 RCV003015710 RCV003029514 RCV003031986 RCV003034998 RCV003032194 RCV003054032 RCV003049650 RCV003047186 RCV003025362 RCV003051559 RCV000007353 RCV000007356 RCV000007357 RCV000007359 RCV000007362 RCV000007364 RCV000206506 RCV000205695 RCV000204744 RCV000204010 RCV000206712 RCV000543979 RCV001854740 RCV000411514 RCV000472929 RCV000231563 RCV000636697 RCV001220381 RCV003507483 RCV003230977 RCV003618081 RCV003618084 RCV003618085 RCV005616644 RCV003507550 RCV003507580 RCV003508005 RCV003508028 RCV003508111 RCV003508341 RCV003506748 RCV003508928 RCV003506964 RCV003507081 RCV003507848 RCV003507753 RCV003507744 RCV003507785 RCV003618236 RCV003618264 RCV003618281 RCV003618364 RCV003618419 RCV003618488 RCV003618538 RCV003618480 RCV003618619 RCV003618592 RCV003618670 RCV003618717 RCV003617446 RCV003617376 RCV003617522 RCV000409942 RCV000410827 RCV000410853 RCV000410892 RCV000411916 RCV000411194 RCV000412165 RCV000410169 RCV000412152 RCV000410092 RCV000411476 RCV000409476 RCV000409799 RCV000410234 RCV000412330 RCV000409755 RCV000409002 RCV000410370 RCV000417077 RCV000417080 RCV000417085 RCV000473949 RCV000458518 RCV000467574 RCV000467395 RCV000475546 RCV000468647 RCV000469494 RCV000458733 RCV001383121 RCV001203346 RCV002525921 RCV000688577 RCV000529669 RCV000707500 RCV000556515 RCV000554742 RCV000554271 RCV000533541 RCV000552774 RCV000544042 RCV000553121 RCV000546587 RCV000542087 RCV001858377 RCV005091315 RCV001858315 RCV000781642 RCV000801906 RCV000694464 RCV001853723 RCV001239591 RCV000636715 RCV000822720 RCV000700009 RCV000636742 RCV000794401 RCV001388337 RCV000705860 RCV001058183 RCV001858316 RCV001276022 RCV001207042 RCV000671660 RCV000636764 RCV005051712 RCV000795888 RCV000707330 RCV001853931 RCV001060890 RCV001387363 RCV000590402 RCV000688264 RCV000636698 RCV000636723 RCV000636743 RCV000636778 RCV000636703 RCV000636766 RCV000636737 RCV000636767 RCV000636717 RCV000636716 RCV001390697 RCV001800841 RCV000685564 RCV000815061 RCV000670725 RCV000666402 RCV000666840 RCV000665020 RCV000669315 RCV000673266 RCV000674686 RCV000668995 RCV000697515 RCV000690766 RCV000705673 RCV000690767 RCV000689922 RCV000699746 RCV000699739 RCV000694299 RCV000686792 RCV000698778 RCV000704393 RCV000700477 RCV000696443 RCV001043609 RCV004796811 RCV002535601 RCV001377438 RCV001873158 RCV001067027 RCV000779565 RCV000808618 RCV000817780 RCV000812953 RCV000815625 RCV000792089 RCV000817450 RCV005049697 RCV000819368 RCV000804176 RCV000796626 RCV000804317 RCV000794512 RCV000799598 RCV000793764 RCV000800755 RCV000988086 RCV000988091 RCV001004532 RCV001004533 RCV004577953 RCV003617870 RCV001860867 RCV001800916 RCV001391000 RCV003617885 RCV001057028 RCV001236246 RCV001873311 RCV001071287 RCV001066631 RCV001041492 RCV001051769 RCV001060946 RCV001057404 RCV001055302 RCV001068095 RCV001067860 RCV001061415 RCV001043646 RCV001062133 RCV005236658 RCV001875843 RCV001862938 RCV001862922 RCV001221956 RCV001218804 RCV001218260 RCV001220913 RCV001204074 RCV001204081 RCV001206069 RCV001204788 RCV001214272 RCV001227171 RCV001238488 RCV001227877 RCV001233080 RCV001234160 RCV001246652 RCV001242070 RCV001239340 RCV001269127 RCV003617920 RCV002537743 RCV003617922	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NBN-related disorder	Likely pathogenic; Pathogenic	rs2129926091, rs587780100, rs587781969, rs730881857, rs786205135, rs587776650, rs864622090, rs876659521, rs767454740, rs760237820, rs1563559078	RCV003399206 RCV004745189 RCV004745208 RCV003407597 RCV003398875 RCV003389666 RCV003401102 RCV003407753 RCV004745366 RCV004745523 RCV004745557	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer	Likely pathogenic	rs2488355545	RCV003154743	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian carcinoma	Likely pathogenic; Pathogenic	rs772909239, rs2129745554	RCV001648486 RCV001648487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs2129695663	RCV005922718	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian insufficiency	Likely pathogenic; Pathogenic	rs1554563822	RCV000656225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer susceptibility	Likely pathogenic; Pathogenic	rs864622253	RCV001824684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1554560352	RCV005900165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, APLASTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA, IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast cancer, susceptibility to	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast-ovarian cancer, familial, susceptibility to, 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST AND/OR OVARIAN CANCER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC APLASTIC ANEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE LYMPHOBLASTIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, acute lymphoblastic, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic short stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric high-grade glioma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations