PALB2 (partner and localizer of BRCA2)

Gene

• Entrez ID: 79728
• Gene name: Partner and localizer of BRCA2
• Gene symbol: PALB2
• Synonyms (NCBI Gene): BROVCA5, FANCN, PNCA3
• Chromosome: 16
• Chromosome location: 16p12.2
• Summary: This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45439097	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Synonymous variant, 3 prime UTR variant, coding sequence variant
rs45476495	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs45478192	A>C	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45494092	A>C,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs45510998	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45548638	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45561331	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45594034	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs61756147	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs62625271	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs62625272	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs62625278	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs62625284	A>G,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs78179744	G>A,C,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained, missense variant
rs118203997	A>C,G,T	Pathogenic-likely-pathogenic, likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs118203998	G>C,T	Not-provided, pathogenic-likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant
rs118203999	G>A	Risk-factor, pathogenic	Coding sequence variant, stop gained
rs139555085	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	5 prime UTR variant, coding sequence variant, missense variant
rs140776736	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs141749524	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Coding sequence variant, missense variant
rs142103232	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146218439	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs146377793	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs146455175	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147045425	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs148026749	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs149522412	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs151316635	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, synonymous variant
rs180177083	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs180177084	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177085	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177090	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177091	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs180177092	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177094	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs180177097	G>A	Risk-factor, pathogenic	Coding sequence variant, stop gained
rs180177098	TT>AGA	Pathogenic	Coding sequence variant, frameshift variant
rs180177099	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177100	G>A	Pathogenic	Coding sequence variant, stop gained
rs180177102	AA>-,A	Risk-factor, pathogenic	Coding sequence variant, frameshift variant
rs180177103	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs180177110	G>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs180177111	G>A	Risk-factor, pathogenic	Coding sequence variant, stop gained
rs180177112	C>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs180177113	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs180177115	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, synonymous variant
rs180177116	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177122	C>T	Pathogenic	Coding sequence variant, stop gained
rs180177124	G>A	Pathogenic	Coding sequence variant, stop gained
rs180177125	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs180177126	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177127	->A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs180177131	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177132	C>T	Pathogenic-likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, stop gained
rs180177133	T>-	Risk-factor, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs180177135	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs180177136	T>C,G	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic, pathogenic	Intron variant
rs180177138	C>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs180177142	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177143	ACAA>-	Pathogenic-likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs183489969	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign	Coding sequence variant, missense variant, synonymous variant
rs200283306	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs200620434	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200937538	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs201035780	C>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201042302	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202241382	A>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs367578415	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs367979106	C>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370422990	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371142570	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs373478248	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs373876101	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375699023	G>A,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs376641234	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs377626805	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs515726060	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726065	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726067	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726071	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726072	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs515726073	TT>C,T	Pathogenic	Frameshift variant, coding sequence variant
rs515726075	->T	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs515726081	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726085	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs515726099	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs515726103	T>A,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs515726104	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726111	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant, intron variant
rs515726117	C>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs515726122	G>A,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, stop gained
rs515726123	CT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs515726126	->A	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs515726127	C>A,T	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, stop gained
rs536644825	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs576081828	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587776406	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587776407	G>A,T	Pathogenic	Stop gained, missense variant, 5 prime UTR variant, coding sequence variant
rs587776409	ATTAGAA>-	Pathogenic	Stop gained, coding sequence variant
rs587776410	CTTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776411	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs587776412	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776413	G>C	Pathogenic	Stop gained, coding sequence variant
rs587776414	TGGCAAAAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776415	G>A	Pathogenic	Stop gained, coding sequence variant
rs587776416	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776417	C>A,G,T	Conflicting-interpretations-of-pathogenicity, risk-factor, likely-pathogenic, pathogenic	Splice acceptor variant
rs587776418	TA>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs587776419	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs587776420	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776423	C>A,G	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant, intron variant
rs587776424	AAGT>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776425	->T	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776426	->T	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776427	AC>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776428	AG>-	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776527	G>A,C	Risk-factor, pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, stop gained, coding sequence variant
rs587778584	T>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs587778586	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587778587	C>A,G,T	Uncertain-significance, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs587780205	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs587780210	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780211	AGGTTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780821	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587780824	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs587781457	C>T	Pathogenic	Stop gained, coding sequence variant
rs587781560	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs587781697	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587781818	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs587781840	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587781890	CA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587781954	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587782005	T>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587782050	C>A,T	Uncertain-significance, pathogenic	Missense variant, 3 prime UTR variant, stop gained, coding sequence variant
rs587782081	A>-	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587782217	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, 3 prime UTR variant, stop gained, coding sequence variant
rs587782232	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587782337	GGTT>NNNNNNNN,TCATTAAC	Likely-pathogenic, pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587782443	T>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587782446	G>A	Pathogenic	Stop gained, coding sequence variant
rs587782531	AC>TA	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587782566	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587782570	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587782680	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587782831	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs587782892	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881865	T>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs730881866	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881867	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730881868	->AACC	Pathogenic	Frameshift variant, coding sequence variant
rs730881869	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881870	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs730881871	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881872	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs730881874	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs730881876	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs730881879	T>A,C,G	Likely-pathogenic	Splice acceptor variant
rs730881888	A>G,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs730881897	T>C,G	Likely-pathogenic	Splice acceptor variant
rs730881898	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs730881905	C>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs730881906	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs745467835	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs745533713	CA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs746604683	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs747148023	AG>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs749494645	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs749602688	G>A,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs749731838	->GC	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs750650768	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs752592662	A>C	Pathogenic	Stop gained, coding sequence variant
rs753153576	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs753307725	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs754660432	T>C	Likely-pathogenic	Splice acceptor variant
rs755263466	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs755471995	->GGGGTGTGCAGCAAGTT	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs756116550	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs756502783	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs756778249	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs757055720	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs757145884	T>A,C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs757369748	G>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs760094988	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs761214886	C>G	Likely-pathogenic	Splice acceptor variant
rs763191051	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs763598472	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs764509489	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs766394024	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained, intron variant
rs766487430	A>-,AA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs767633741	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs769097541	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769240800	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs769414858	T>-	Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs770996884	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs773829275	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant, missense variant
rs774049060	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs774057025	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778309339	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs778345761	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs779278389	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs786201773	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786202008	->CTCTTTGGCACAGGGAT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs786202439	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs786203057	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203244	ACATTTTTGACTCAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203245	T>A	Likely-pathogenic	Splice acceptor variant
rs786203346	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs786203382	AGGAAGCTCTGC>TCTGA	Pathogenic	Coding sequence variant, frameshift variant
rs786203399	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203488	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203714	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs786203775	C>A	Pathogenic	Coding sequence variant, stop gained
rs786203821	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs786203892	TTACCT>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs786204122	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786204129	->TCTGAAAAATACAGCTTCC	Pathogenic	Coding sequence variant, frameshift variant
rs786204156	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224521	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863224783	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs864622138	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs864622192	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs864622280	C>A,G	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs864622301	->A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs864622481	A>C,G	Likely-pathogenic	Splice donor variant
rs864622498	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs864622622	T>C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant, synonymous variant
rs864622695	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs869312772	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs869312774	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs875989789	TT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs875989790	->T	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs875989791	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs875989792	->CTTGTTGA	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs876658136	AC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876658157	G>C,T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs876658166	G>A	Pathogenic	Stop gained, coding sequence variant
rs876658170	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658192	->A	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876658348	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658358	GAATGTTTATGCAGCTCCTGGCA>ATTGTACCTT	Pathogenic	Frameshift variant, coding sequence variant
rs876658431	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658695	->CAAT	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs876658773	C>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs876658813	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658855	->TTA	Pathogenic	Stop gained, coding sequence variant
rs876658979	A>C,G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs876658983	C>T	Pathogenic	Stop gained, coding sequence variant
rs876659036	C>A,G	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs876659319	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs876659326	AGGAA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659328	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659341	->A	Pathogenic	Stop gained, coding sequence variant
rs876659354	G>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs876659378	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659405	TA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659463	C>G,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs876659571	TTCA>-	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs876659697	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659741	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659859	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs876659997	->T	Pathogenic	Frameshift variant, coding sequence variant
rs876660147	->T	Pathogenic	Frameshift variant, coding sequence variant
rs876660193	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs876660465	A>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs876660492	TCCAGAAGTC>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs876660574	AAGATTGCTGCTGCACAGTGAT>-	Pathogenic, likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs876660643	TT>-,T	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs876660669	A>C,G	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs876660678	C>T	Pathogenic	Stop gained, coding sequence variant
rs876660719	ATCTGAGTGAATCA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs878855099	C>A	Pathogenic	Stop gained, coding sequence variant
rs878855105	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855118	C>T	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs878855122	C>A,T	Pathogenic	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs879253892	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs879253960	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs879253986	->T	Pathogenic	Frameshift variant, coding sequence variant
rs879254015	C>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs879254033	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, 3 prime UTR variant, stop gained, coding sequence variant
rs879254060	TT>-	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs879254113	C>T	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs879254121	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs879254197	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886039479	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs886039480	G>A	Pathogenic, likely-pathogenic, not-provided	Stop gained, coding sequence variant
rs886039503	CT>-	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs886039613	T>G	Likely-pathogenic	Splice acceptor variant
rs886039614	T>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886039619	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs886039620	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs886039624	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039626	C>A	Likely-pathogenic	Splice donor variant
rs886039634	A>G,T	Likely-benign, likely-pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs886039635	GAGTCGT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886039645	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039683	A>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs886039686	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886039729	C>G	Likely-pathogenic	Splice donor variant
rs886039738	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039747	G>A	Pathogenic, likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886041220	->T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886041984	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs929474806	G>A	Pathogenic	Coding sequence variant, stop gained
rs982643702	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs995629797	A>T	Pathogenic	Coding sequence variant, stop gained
rs1021662947	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1057517539	G>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057517563	A>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1057517600	G>-	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1057517602	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057520645	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057520653	T>A	Pathogenic	Stop gained, coding sequence variant
rs1057520736	G>A,C,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060499812	C>A	Pathogenic	Stop gained, coding sequence variant
rs1060499813	GATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499814	C>T	Likely-pathogenic	Splice donor variant
rs1060499815	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1060499818	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499819	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499821	A>G	Likely-pathogenic	Splice donor variant
rs1060499823	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499824	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499827	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1060499828	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1060499830	T>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060499831	T>A,C	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502726	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060502734	ATAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502738	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060502748	G>C	Pathogenic	Stop gained, coding sequence variant
rs1060502759	TTTT>-,TT,TTT	Pathogenic	Frameshift variant, coding sequence variant
rs1060502760	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060502761	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502764	T>C	Likely-pathogenic	Splice acceptor variant
rs1060502768	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502769	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060502771	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502772	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1060502781	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502785	C>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1060502787	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1060502788	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060502799	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1060502800	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502803	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502804	C>A,G	Likely-pathogenic	Splice acceptor variant
rs1060502805	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1064793220	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793772	G>A,C	Uncertain-significance, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs1064793827	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794886	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1064795168	->AT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795507	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1064795640	ATTTT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064795824	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1064795953	C>-	Likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1218512317	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1219715328	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1241049372	G>A,C	Likely-benign, uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1248579792	T>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1257545151	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1304351755	C>A,G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs1327399690	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1440838364	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1485260432	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555457841	G>A	Pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555457867	A>T	Pathogenic-likely-pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555457878	A>T	Pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555458171	G>C	Likely-pathogenic	Splice donor variant, intron variant
rs1555458187	->GCTGAGAG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458211	->A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1555458223	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458815	ATCA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458822	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458828	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555459386	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555459421	T>G	Likely-pathogenic	Splice acceptor variant
rs1555459520	->AT	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555459528	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459530	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555459540	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459553	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459599	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459709	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459747	T>G	Likely-pathogenic	Splice acceptor variant
rs1555459925	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1555459934	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459949	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555459954	->A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555459999	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555460007	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460315	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460323	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555460325	ATTTTCTT>-	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460334	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460360	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460407	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555460423	->GTTCGTCCAGCAA	Pathogenic	Frameshift variant, coding sequence variant
rs1555460431	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555460442	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460445	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1555460457	GTACCTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460463	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460465	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555460490	TAATATGGATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460526	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460533	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555460548	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460564	->GAAAAATACAGCTTCCCTCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460579	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555460584	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555460592	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1555460593	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460609	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460627	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460648	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460650	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460670	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460671	ATAA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460682	C>-,CC	Likely-pathogenic	Stop gained, frameshift variant, coding sequence variant
rs1555461148	C>A,T	Likely-pathogenic	Splice donor variant
rs1555461154	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555461174	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461176	->T	Pathogenic	Stop gained, coding sequence variant
rs1555461178	T>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1555461192	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555461217	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461253	T>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461256	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461278	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461280	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461287	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461294	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461295	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555461323	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461339	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555461358	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555461363	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555461366	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461385	CATAA>-	Likely-pathogenic	Stop gained, inframe indel, coding sequence variant
rs1555461386	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555461407	C>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461408	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461413	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555461415	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461427	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1555461451	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461460	ACTGGGAGATTTTAAAGAT>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1555461467	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461472	A>-	Pathogenic	Stop gained, coding sequence variant
rs1555461484	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461488	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs1555461502	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461514	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461517	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555461551	GGTTATC>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461553	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461558	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461574	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1555461586	TCTA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461595	T>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461597	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461602	GTCG>-	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461606	GTGAGTAGTAAGTTCACTG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461611	->T	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461618	->TA	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461627	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461628	->G	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461634	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461683	TAAT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461684	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461693	C>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461695	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461697	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461704	G>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461727	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461733	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461765	GACA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461777	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461788	C>A	Pathogenic-likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461790	->GCTTCTTTCTTCTGCT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461796	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461825	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461846	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461868	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461870	AT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461875	T>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555462026	C>A,T	Likely-pathogenic	Splice donor variant
rs1555462031	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555462076	->CTTT	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567204928	->AA	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1567204932	AATA>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1567206753	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs1567206756	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1567206804	AG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567206813	AGTCG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567206823	->A	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567206909	ACGAC>GGCT	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567209835	->T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1567209922	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567212825	TAGTAGTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567213009	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs1567214312	GATTTCCA>-	Pathogenic	Stop gained, coding sequence variant
rs1567214484	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567214493	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1567215519	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1567217830	AG>C	Pathogenic	Frameshift variant, coding sequence variant
rs1567217898	A>C	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1567217908	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567218036	GTATTTAAAGGAGT>C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567218690	->A	Pathogenic	Stop gained, coding sequence variant
rs1567220542	CTGATATTTGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567220758	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567220784	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567220802	G>T	Pathogenic	Stop gained, coding sequence variant
rs1567221328	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567221417	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567221493	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567221521	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567221761	GTTC>TTTTTT	Pathogenic	Frameshift variant, coding sequence variant
rs1567221851	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567222143	C>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1567222476	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222523	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222580	CT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222636	C>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1567222725	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222943	TG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567223192	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567224146	C>T	Likely-pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs1567224232	A>C	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1597061983	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1597062038	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1597062083	G>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1597062296	A>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1597062406	C>G	Likely-pathogenic	Splice acceptor variant
rs1597066595	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1597073208	C>A	Likely-pathogenic	Intron variant
rs1597073266	CTGAAG>TGATT	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1597073423	C>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1597079557	C>T	Likely-pathogenic	Splice donor variant
rs1597079711	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs1597079810	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597079941	TGC>GT	Pathogenic	Coding sequence variant, frameshift variant
rs1597081202	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597081571	ACAAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597082860	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597082866	->CTGG	Pathogenic	Coding sequence variant, frameshift variant
rs1597082876	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597088146	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597088245	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597088811	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089246	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597089434	CTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089469	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089741	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089845	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597089904	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090031	GTATTTAAAGGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597090059	A>T	Pathogenic	Coding sequence variant, stop gained
rs1597090146	G>C	Pathogenic	Coding sequence variant, stop gained
rs1597090324	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090596	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090656	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090894	T>A	Pathogenic	Coding sequence variant, stop gained
rs1597090903	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597091230	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597091247	GCCGTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597091425	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597091518	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1597095394	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597095683	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597096243	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597096326	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597096338	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597096949	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597097072	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597097182	AG>-	Pathogenic	Coding sequence variant, stop gained
rs1597097408	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597097438	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597097936	->C	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098094	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098138	G>-	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1597098679	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098739	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098943	TC>AAAGGAACTA	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1597098971	CTTTA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098996	->GT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597099149	TC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597099331	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597099523	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1597101532	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597101736	CGATTCACTTA>GCCG	Likely-pathogenic	Intron variant, splice donor variant
rs1597101776	->G	Likely-pathogenic	Splice donor variant
rs1597101822	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597101885	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597101949	T>-	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046846	hsa-miR-221-3p	CLASH	23622248
MIRT1211685	hsa-miR-299-3p	CLIP-seq
MIRT1211686	hsa-miR-3153	CLIP-seq
MIRT1211687	hsa-miR-3924	CLIP-seq
MIRT1211688	hsa-miR-4648	CLIP-seq
MIRT1211689	hsa-miR-4654	CLIP-seq
MIRT1211690	hsa-miR-4668-5p	CLIP-seq
MIRT1211691	hsa-miR-4769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	19369211, 19423707, 28398198
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	26323318
GO:0001701	Process	In utero embryonic development	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	20871616
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17420451, 19369211, 19423707, 19609323, 20332121, 20871616, 22193777, 22244764, 22293751, 24141787, 24485656, 25960410, 26833090, 28319063, 28514442, 29656893, 30410870, 32296183, 33961781, 34591612
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	19369211
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0032991	Component	Protein-containing complex	IDA	26833090
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:1990391	Component	DNA repair complex	IPI	19369211

Other IDs

• MIM: 610355
• HGNC: 26144
• e!Ensembl: ENSG00000083093

Protein

• UniProt ID: Q86YC2
• Protein name: Partner and localizer of BRCA2
• Protein function: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19369211, PubMed:19423707, PubMed:22941656, PubMed:24141787, PubMed:28319063). Strongly stimulat
• PDB: 2W18, 3EU7, 7S4A, 8YAP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16756	PALB2_WD40	834 → 1184	Partner and localizer of BRCA2 WD40 domain	Domain

• Sequence:

  MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKIKHSIKKTVEEQDCLSQ
  QDLSPQLKHSEPKNKICVYDKLHIKTHLDEETGEKTSITLDVGPESFNPGDGPGGLPIQR
  TDDTQEHFPHRVSDPSGEQKQKLPSRRKKQQKRTFISQERDCVFGTDSLRLSGKRLKEQE
  EISSKNPARSPVTEIRTHLLSLKSELPDSPEPVTEINEDSVLIPPTAQPEKGVDTFLRRP
  NFTRATTVPLQTLSDSGSSQHLEHIPPKGSSELTTHDLKNIRFTSPVSLEAQGKKMTVST
  DNLLVNKAISKSGQLPTSSNLEANISCSLNELTYNNLPANENQNLKEQNQTEKSLKSPSD
  TLDGRNENLQESEILSQPKSLSLEATSPLSAEKHSCTVPEGLLFPAEYYVRTTRSMSNCQ
  RKVAVEAVIQSHLDVKKKGFKNKNKDASKNLNLSNEETDQSEIRMSGTCTGQPSSRTSQK
  LLSLTKVSSPAGPTEDNDLSRKAVAQAPGRRYTGKRKSACTPASDHCEPLLPTSSLSIVN
  RSKEEVTSHKYQHEKLFIQVKGKKSRHQKEDSLSWSNSAYLSLDDDAFTAPFHRDGMLSL
  KQLLSFLSITDFQLPDEDFGPLKLEKVKSCSEKPVEPFESKMFGERHLKEGSCIFPEELS
  PKRMDTEMEDLEEDLIVLPGKSHPKRPNSQSQHTKTGLSSSILLYTPLNTVAPDDNDRPT
  TDMCSPAFPILGTTPAFGPQGSYEKASTEVAGRTCCTPQLAHLKDSVCLASDTKQFDSSG
  SPAKPHTTLQVSGRQGQPTCDCDSVPPGTPPPIESFTFKENQLCRNTCQELHKHSVEQTE
  TAELPASDSINPGNLQLVSELKNPSGSCSVDVSAMFWERAGCKEPCIITACEDVVSLWKA
  LDAWQWEKLYTWHFAEVPVLQIVPVPDVYNLVCVALGNLEIREIRALFCSSDDESEKQVL
  LKSGNIKAVLGLTKRRLVSSSGTLSDQQVEVMTFAEDGGGKENQFLMPPEETILTFAEVQ
  GMQEALLGTTIMNNIVIWNLKTGQLLKKMHIDDSYQASVCHKAYSEMGLLFIVLSHPCAK
  ESESLRSPVFQLIVINPKTTLSVGVMLYCLPPGQAGRFLEGDVKDHCAAAILTSGTIAIW
  DLLLGQCTALLPPVSDQHWSFVKWSGTDSHLLAGQKDGNIFVYHYS

• Sequence length: 1186

Pathways

KEGG:

Homologous recombination
Fanconi anemia pathway

Reactome:

HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange

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
Basal cell carcinoma	Likely pathogenic; Pathogenic	rs786203714	RCV000414940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs2142252781, rs886039619, rs515726075, rs180177083, rs180177084, rs180177132, rs180177133, rs587776527, rs515726117, rs515726123, rs180177090, rs180177091, rs180177092, rs587781697, rs180177110, rs876658983, rs876658813, rs876659997, rs2506215298, rs2506412889, rs773829275, rs1966986126	RCV001799113 RCV001799366 RCV003149779 RCV001798296 RCV001798297 RCV003492443 RCV003149787 RCV003149788 RCV001798300 RCV001270995 RCV001270997 RCV003492446 RCV003492447 RCV001270996 RCV003492624 RCV003491974 RCV003150120 RCV001798719 RCV003492879 RCV003493317 RCV001270994 RCV001270992	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast cancer, susceptibility to	Pathogenic; Likely pathogenic	rs515726123, rs587780210, rs587781840, rs587782005, rs587782443, rs1060499814, rs587776417, rs1966798806	RCV001258079 RCV001258078 RCV000500842 RCV002251434 RCV001258080 RCV001258109 RCV001258101 RCV001258100	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs2142326815, rs2142417535, rs515726123, rs1060502772, rs1555461727, rs1060502759	RCV001554304 RCV001554338 RCV001554297 RCV001554294 RCV001554319 RCV001644632	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast neoplasm	Pathogenic	rs587776416, rs876659036, rs1555461693, rs1555460315, rs1555458822	RCV000677892 RCV000504617 RCV000504603 RCV000504613 RCV000504602	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs587776527, rs515726123, rs180177092, rs180177100, rs587776426, rs118203998, rs587776428, rs863224521, rs886041220, rs1966959467	RCV005861051 RCV003322596 RCV003128230 RCV004668783 RCV005861055 RCV003493446 RCV004760387 RCV003224869 RCV003992255 RCV001090198	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 5	Likely pathogenic; Pathogenic	rs2142431841, rs1597062406, rs515726083, rs180177097, rs180177102, rs180177083, rs180177111, rs180177122, rs515726099, rs180177127, rs180177132, rs180177133, rs587776527, rs180177136, rs515726117, rs180177085, rs515726123, rs180177090, rs180177142, rs180177091, rs180177092, rs515726126, rs180177100, rs587776426, rs118203998, rs587776416, rs587776428, rs587776410, rs180177110, rs587782566, rs587782570, rs587776415, rs118203997, rs118203999, rs730881888, rs730881865, rs730881872, rs730881897, rs587776424, rs786203892, rs786203057, rs2506411822, rs587776417, rs864622138, rs864622498, rs876659859, rs876659463, rs876659036, rs876659571, rs760094988, rs876659319, rs878855123, rs886039503, rs745533713, rs1269970394, rs2506319680, rs2506197497, rs1060502809, rs769240800, rs2142422250, rs1057517563, rs753153576, rs1057517585, rs1060499812, rs1060502771, rs1060502726, rs1060502769, rs754660432, rs1555461875, rs1555461415, rs1555459540, rs1555461796, rs1555462026, rs1257545151, rs1304351755, rs1555457867, rs1597088811, rs864622481, rs1597091518, rs1966865214, rs1967112121	RCV005014480 RCV005014535 RCV005416128 RCV005053906 RCV005053907 RCV005016383 RCV005053908 RCV005394374 RCV005016386 RCV005246644 RCV003389455 RCV005053909 RCV003315406 RCV003315407 RCV005600658 RCV004776431 RCV004562253 RCV005256561 RCV005016390 RCV004796018 RCV004796019 RCV006261729 RCV004555854 RCV005600681 RCV005394394 RCV003315410 RCV005365017 RCV004796029 RCV004597749 RCV004796031 RCV006253817 RCV006249363 RCV005053882 RCV005053883 RCV005053884 RCV004992040 RCV005016481 RCV005359381 RCV005016482 RCV003991017 RCV005396496 RCV005256573 RCV005861295 RCV005868088 RCV004692825 RCV004597760 RCV003315422 RCV005416112 RCV004796114 RCV004558531 RCV005016586 RCV005868128 RCV006261741 RCV004992136 RCV003389468 RCV005870132 RCV005399321 RCV003330204 RCV004560172 RCV003484442 RCV004017206 RCV003315424 RCV003315425 RCV004698787 RCV003315427 RCV004796186 RCV005355847 RCV004796185 RCV005411471 RCV005357565 RCV005018988 RCV005018970 RCV005018995 RCV004796236 RCV005357759 RCV005367439 RCV005416117 RCV005019096 RCV003315444 RCV005401689 RCV005367668 RCV004577541 RCV005021484	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma of colon	Likely pathogenic; Pathogenic	rs2142431841	RCV001357001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of pancreas	Pathogenic	rs515726123	RCV001391207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colonic neoplasm	Pathogenic	rs1060502734	RCV001653830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic; Likely pathogenic	rs180177084, rs1567221417	RCV002267609 RCV001293837	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs2142367858, rs2142431841, rs1555459747, rs2142252136, rs2142252484, rs1597062406, rs2506215030, rs1966508734, rs2142274423, rs2142299058, rs2142326522, rs2142327117, rs2506320907, rs2142334914, rs2142355316, rs2142355636, rs752513498, rs2142368459, rs2142368508, rs2142374295, rs2142374907, rs2142380816, rs2142381049, rs2142382015, rs2142382651, rs2142383242, rs2142389921, rs2142412914, rs2142415370, rs2142416277, rs2142418871, rs2142419403, rs2142421147, rs2142422279, rs2142426807, rs2142432029, rs753676934, rs2142432863, rs2142433522, rs2142434725, rs2142437289, rs2142439618, rs2142443741, rs2142443848, rs2142456344, rs2142460813, rs2142461122, rs2142481327, rs2142252781, rs515726083, rs2142253658, rs587780817, rs2142425187, rs180177097, rs180177098, rs515726060, rs180177099, rs515726065, rs515726067, rs515726071, rs180177102, rs180177103, rs515726073, rs515726075, rs180177083, rs515726081, rs180177084, rs180177111, rs180177112, rs587776417, rs180177116, rs180177115, rs1555459954, rs180177122, rs180177124, rs515726099, rs180177126, rs180177127, rs180177131, rs515726104, rs180177132, rs180177133, rs515726111, rs587776527, rs180177135, rs180177136, rs515726117, rs180177085, rs515726122, rs2142418150, rs515726123, rs180177090, rs180177142, rs180177091, rs180177092, rs515726126, rs1966865838, rs180177100, rs587780210, rs587780211, rs587776426, rs118203998, rs2142325956, rs2142385006, rs2142418386, rs2142438340, rs2142425504, rs2142424706, rs2142343437, rs1966974831, rs1966856854, rs2142416902, rs2142457035, rs2142251164, rs2142272095, rs2142433539, rs2142431560, rs2142390444, rs2142377985, rs587778584, rs2142377240, rs587776416, rs2142388816, rs730881869, rs2142434483, rs2142253220, rs763745734, rs2142410052, rs761533286, rs1966510953, rs2142440747, rs2142428256, rs2142384044, rs2142337034, rs587776418, rs2142411591, rs2142382796, rs2142412137, rs757860709, rs2142334934, rs2142386226, rs2142437926, rs2142326602, rs1555461597, rs2142435343, rs2142327301, rs2142429230, rs2142384476, rs2142445986, rs2142251992, rs1184981956, rs2142374794, rs2142298948, rs2142252096, rs2142273197, rs2142417496, rs2142443124, rs876660475, rs1567221417, rs2142344237, rs1833331932, rs2142444567, rs2142252950, rs2142383088, rs2142389968, rs730881903, rs2142432244, rs2142435242, rs45532440, rs2142423901, rs2142426385, rs2142455866, rs2142426926, rs587776428, rs587781457, rs587781560, rs2142436112, rs587781662, rs587781697, rs587776423, rs587776410, rs587781840, rs587781890, rs587782005, rs587782050, rs587782081, rs180177110, rs587782443, rs587782446, rs587782462, rs587782531, rs587782566, rs587782570, rs587782680, rs587782892, rs587776411, rs587776412, rs587776406, rs587776413, rs587776414, rs587776415, rs587776419, rs587776420, rs587776425, rs587776427, rs587776407, rs587776405, rs587776408, rs587776409, rs118203997, rs118203999, rs2142461082, rs2142389365, rs2142254289, rs2506511810, rs2506318342, rs2506572115, rs2506264238, rs1597079557, rs2506509176, rs2506486066, rs730881868, rs730881888, rs730881867, rs730881866, rs730881865, rs730881876, rs730881872, rs730881871, rs730881870, rs730881905, rs730881897, rs730881884, rs2506484387, rs2506568316, rs2506494447, rs2506478906, rs2506469663, rs2506470530, rs2142390682, rs2506490399, rs2506439448, rs2506534070, rs2506418702, rs587776424, rs786202008, rs786203488, rs786203775, rs2506519015, rs786203892, rs753153576, rs764509489, rs786201773, rs786203346, rs1555459994, rs786203714, rs786203057, rs786203399, rs786203821, rs2506395256, rs2506369952, rs2506417320, rs1555460410, rs2506411822, rs2506396824, rs2506518476, rs2506348737, rs2506516970, rs2506488340, rs2506336717, rs756519825, rs886039683, rs2506320174, rs2506505884, rs786204122, rs786204156, rs786204129, rs1375713365, rs2142353580, rs2506498384, rs2506319191, rs2506405916, rs2506403585, rs886039503, rs2506480937, rs2506440178, rs2506413914, rs777940379, rs2506487913, rs2506494090, rs2506506863, rs2142429833, rs1967026821, rs2506432628, rs2506425029, rs2506413313, rs2506266271, rs2506499986, rs2506402179, rs2506215585, rs1567220802, rs2506403717, rs2506488587, rs2506438793, rs2506473795, rs1966853670, rs863224521, rs2506478950, rs2506216606, rs2506214923, rs2506412613, rs2506197277, rs2506480988, rs2506470735, rs2506428661, rs2142328421, rs864622192, rs587782337, rs864622138, rs864622481, rs864622301, rs864622695, rs864622498, rs375699023, rs869312774, rs1555460360, rs869312772, rs1555460564, rs875989791, rs875989790, rs875989789, rs876660492, rs876660574, rs876658773, rs876659859, rs876658136, rs876658157, rs778345761, rs876659463, rs876659378, rs876659036, rs876660147, rs876658983, rs45476495, rs876660678, rs876658813, rs876658348, rs747148023, rs876659997, rs876658170, rs876659571, rs876660193, rs752592662, rs760094988, rs876659341, rs876658166, rs876659741, rs876658431, rs876658192, rs876659328, rs864622280, rs876660719, rs876659405, rs876660465, rs876659319, rs876659063, rs1555462031, rs2506320815, rs2506214645, rs180177094, rs2506351360, rs2506436018, rs878855118, rs746604683, rs587778587, rs878855105, rs878855099, rs878855122, rs878855123, rs2506513633, rs2506348819, rs45602040, rs587782217, rs879254113, rs879254060, rs879254015, rs755471995, rs749602688, rs879254121, rs879253892, rs879253960, rs879254197, rs879254062, rs879254144, rs886039634, rs886039619, rs886039626, rs886039613, rs886039729, rs886039480, rs886039624, rs886039620, rs886039479, rs886039614, rs745533713, rs886039686, rs886039747, rs886041220, rs1223755856, rs2506318271, rs1269970394, rs1555461472, rs2142412586, rs2142459705, rs2506513330, rs781282667, rs2506477730, rs2506478562, rs2506517377, rs1335897946, rs2506264526, rs2506430834, rs1567218463, rs2142444897, rs1188755325, rs878855126, rs2506492441, rs1567223942, rs2506405176, rs2142390387, rs2506487272, rs2506477651, rs2506539704, rs2506494280, rs2506349149, rs2506518424, rs2506433921, rs2506540801, rs2506395226, rs1597098960, rs2506572642, rs2506404426, rs2506351687, rs2506487811, rs142103232, rs2506410860, rs2506534790, rs761214886, rs1060499821, rs2142458017, rs1555458171, rs2506401864, rs2142300348, rs1057517585, rs2506337371, rs2506215046, rs2506352068, rs2506219319, rs2506267514, rs2506219403, rs2506336959, rs2506485264, rs540962715, rs2506477382, rs1555460505, rs2142328321, rs1967048357, rs2506197342, rs2506197444, rs1307895700, rs2142461160, rs2506331940, rs2506407851, rs879254068, rs2142353165, rs749078410, rs2142416694, rs1966511830, rs2506438451, rs2506428095, rs2506480353, rs2506418304, rs2506481423, rs2506337849, rs1966955447, rs2506514549, rs2142447291, rs2506539952, rs2506506942, rs2142386665, rs2506469678, rs2506219220, rs1597097656, rs2506426669, rs2506482111, rs1597090662, rs2142481060, rs1060502809, rs2506484710, rs2506507300, rs2506476329, rs2506266710, rs2506487128, rs2506470483, rs2506429279, rs2506497719, rs1967007854, rs2506518601, rs2506533604, rs2506535967, rs2506512269, rs2506492135, rs2142426861, rs2142354911, rs2506495630, rs2506372023, rs2506213944, rs2506213740, rs2506213838, rs2506435297, rs2506418535, rs2142300225, rs2506508888, rs2488713769, rs1967056795, rs2506479181, rs1967002667, rs2506196853, rs2506317139, rs2506219037, rs2506404802, rs2506480505, rs2506490234, rs2506396717, rs2506419032, rs2506319397, rs2506197229, rs2506500559, rs2142273676, rs2506407120, rs2142356386, rs2506489045, rs2506513116, rs1312378621, rs2506484093, rs2506213403, rs2506536286, rs2506470426, rs2506406330, rs2506395620, rs2506396546, rs2506430807, rs2506320726, rs2506418982, rs2506265842, rs2506415396, rs1597095683, rs2506493372, rs2506404974, rs2506217535, rs2506423101, rs2506421760, rs2506218552, rs2506397575, rs1567206799, rs2506412078, rs756018344, rs1567217128, rs2506422670, rs1567217931, rs2506498901, rs2506423965, rs2506335630, rs2506214884, rs2506499894, rs2506412992, rs2506498622, rs2142254584, rs2506472466, rs2506477042, rs2506372150, rs2506474686, rs1966842668, rs769163259, rs2506369573, rs2506414771, rs2506507642, rs2506494522, rs2506540669, rs2506485985, rs2506485498, rs2506469411, rs2506370297, rs2506434258, rs2506397207, rs2506539880, rs2506484574, rs2506331963, rs2506372450, rs2506404518, rs2506374385, rs2506477824, rs2506215747, rs2506489655, rs2506506605, rs2506497326, rs2506497427, rs1597096338, rs2506264968, rs2506216974, rs2506214204, rs2506435881, rs2506471654, rs2506572755, rs2506486737, rs1060499815, rs1555460628, rs2506196528, rs2506414559, rs2506402781, rs2506500998, rs2506478364, rs2506488695, rs2506215298, rs2506515350, rs2506488161, rs2506477430, rs2506197198, rs2506496389, rs2506215545, rs2506265249, rs2506265040, rs2506318177, rs2506533950, rs2506196933, rs2506369925, rs1567221328, rs2142443334, rs2506500607, rs2506395721, rs2506477052, rs2506497835, rs2506197384, rs2506474098, rs2506503909, rs2506421462, rs2506411505, rs2506492295, rs2506435147, rs2506434971, rs2142373865, rs1567224232, rs2506438495, rs2506498360, rs2506439815, rs2506495873, rs2506474382, rs2506504746, rs2506484896, rs2506572966, rs2506479564, rs2506195102, rs2142367705, rs1039184417, rs2506334991, rs2506409634, rs2506216070, rs2506349749, rs2506479063, rs2506196512, rs2506490833, rs2506486770, rs2506426318, rs2506506514, rs754465466, rs2506474995, rs2506487423, rs2506196328, rs2506217335, rs1057517563, rs1057517600, rs1057517539, rs1057517602, rs1057520653, rs1060499827, rs1555459520, rs1060499824, rs1060499823, rs1060499819, rs1060499818, rs1555461413, rs1060499813, rs1060499812, rs1555461517, rs1060499831, rs1060499830, rs1060499814, rs757369748, rs1555458828, rs1060502781, rs1060502771, rs1060502803, rs1060502734, rs1060502805, rs1060502804, rs995629797, rs1060502800, rs1555461846, rs1060502759, rs1060502761, rs1555461294, rs1060502772, rs1060502764, rs1060502726, rs1060502785, rs1555461727, rs1060502738, rs1060502760, rs1060502748, rs1060502788, rs1060502769, rs1064795824, rs876660643, rs1064793220, rs1064795168, rs1064795953, rs1064795640, rs1555460682, rs1555461693, rs1555460315, rs1555458822, rs1555460407, rs1555460670, rs769240800, rs1555460584, rs754660432, rs1555458187, rs875989792, rs1555461295, rs1555461484, rs1555461697, rs1555461875, rs879254033, rs1218512317, rs1555458815, rs1555459709, rs1555461217, rs1555461253, rs1555461514, rs1555461790, rs1555459553, rs876659354, rs1555461618, rs1555461765, rs1555460431, rs1555460445, rs1555460548, rs1555460579, rs1555460648, rs1555461148, rs1555459999, rs1555461287, rs1555461339, rs1555460671, rs1555460457, rs1555461460, rs1555461154, rs1555460609, rs1555461278, rs1555461366, rs1555461415, rs1555461502, rs1555461407, rs1555461586, rs1555461467, rs1485260432, rs1555461551, rs1327399690, rs1555461695, rs766394024, rs1555459528, rs1555459540, rs1555459934, rs750650768, rs1555460423, rs1555460442, rs1555460465, rs1555461174, rs1555461178, rs749731838, rs515726118, rs1555460325, rs1555461256, rs1555461574, rs1555461704, rs1555461796, rs1555459386, rs1555461280, rs1555462026, rs1021662947, rs1555460593, rs1257545151, rs1555461488, rs1555458223, rs78179744, rs767633741, rs1555460323, rs1555461192, rs1555461602, rs1555461870, rs1555457841, rs1555459949, rs1304351755, rs1555460334, rs773829275, rs1555461323, rs1555460533, rs1057520736, rs1555461825, rs1555461558, rs515726103, rs1555457867, rs1555457878, rs1555460490, rs1555460627, rs1555460650, rs1555461358, rs1555461385, rs1555461595, rs1555461611, rs1555461634, rs1555461777, rs1555462076, rs1555461451, rs1555461683, rs1555461788, rs730881879, rs1555461176, rs1555461627, rs1567206756, rs1567213009, rs1567221493, rs1567221521, rs1567221851, rs1567222725, rs1567206733, rs1567206804, rs1567217908, rs1567221761, rs1567209922, rs1567214484, rs1567223192, rs1567204928, rs1567204932, rs1567206813, rs1567222943, rs1567222143, rs1567218690, rs1567220784, rs1567222476, rs1567209835, rs1567217898, rs1567206909, rs1219715328, rs1567217830, rs1567222523, rs1248579792, rs1567206823, rs1567214493, rs755263466, rs1597061983, rs1597062083, rs1597079711, rs1597079810, rs1597079941, rs1597081571, rs1597082860, rs770996884, rs1597088146, rs1064795507, rs1597089434, rs1597089469, rs1597089845, rs1597090596, rs1597091230, rs1597091247, rs1597091425, rs1597096949, rs929474806, rs1597097182, rs1597097408, rs1597097438, rs45494092, rs1597098138, rs1597098996, rs876658979, rs1597101885, rs1597073423, rs1597066595, rs1597082866, rs1597090031, rs1597098739, rs1597062038, rs1597062296, rs1597081202, rs1555459925, rs1597088811, rs1060502768, rs1597089741, rs1597089904, rs1597090059, rs1555460592, rs1597090894, rs1597090903, rs1241049372, rs1597096326, rs1597097072, rs1597097936, rs779278389, rs1597098679, rs1597098943, rs1597098971, rs1597099149, rs1597099331, rs1597099523, rs1597101532, rs1597091518, rs1966858562, rs1567218141, rs1555460542, rs1966863076, rs1966865214, rs1966866081, rs1967023129, rs1967023691, rs1967028249, rs750782778, rs1967104136, rs1966637056, rs1966771907, rs1966801432, rs1224428422, rs1966842388, rs1966855759, rs1966856749, rs1966856962, rs1966862226, rs1966862297, rs1966864164, rs1966864847, rs1966989564, rs1967002076, rs1451309159, rs1967030083, rs1967055393, rs1967098495, rs1966959467, rs1966506715, rs1966800194, rs1567213829, rs1966861886, rs1966863209, rs1966952995, rs1966967463, rs1967011347, rs1967027806, rs1967057228, rs373287455, rs62625271, rs1966508003, rs1966509881, rs1966773290, rs1966842281, rs1966842803, rs1966855544, rs1966861952, rs1966866862, rs1967055062, rs776284609, rs1966857445, rs1966862408, rs1966983494, rs1967057527, rs1967100637, rs1966771199, rs1966861906, rs1966865368, rs1966981959, rs1555461386, rs1966988658, rs2506195060, rs1966856585, rs1966856604, rs1966861838, rs1966964908, rs1967021173, rs1966798806, rs1966797789, rs1966853795	RCV001871942 RCV003450002 RCV001379740 RCV001384386 RCV001388688 RCV001385043 RCV003334761 RCV001389423 RCV001381777 RCV001383957 RCV001384040 RCV001380135 RCV003500799 RCV001382115 RCV001383967 RCV001387638 RCV001390495 RCV001387264 RCV001380470 RCV001387688 RCV001389040 RCV001381742 RCV001387212 RCV001382915 RCV001388172 RCV001388341 RCV001387209 RCV001387992 RCV001386047 RCV001382572 RCV001382859 RCV001380325 RCV001387611 RCV001390903 RCV001383915 RCV001380161 RCV001388498 RCV001390536 RCV001384976 RCV001388164 RCV001388611 RCV001388644 RCV001380688 RCV001387399 RCV001380902 RCV001383971 RCV001386583 RCV001383962 RCV003451836 RCV003451919 RCV001775205 RCV003316849 RCV001800247 RCV001040014 RCV001030197 RCV000470398 RCV000114457 RCV003453033 RCV000114470 RCV000114478 RCV000114482 RCV000114484 RCV001310143 RCV000114502 RCV000114503 RCV001030283 RCV000114519 RCV000114521 RCV000114524 RCV001030317 RCV003500504 RCV000114536 RCV001030340 RCV000114552 RCV001030342 RCV000114567 RCV000114575 RCV000114576 RCV000114586 RCV000114587 RCV000114591 RCV000114595 RCV000114605 RCV000168017 RCV000168157 RCV000114621 RCV000114624 RCV000700247 RCV000114642 RCV003451946 RCV000114645 RCV000114653 RCV000114655 RCV000114657 RCV000114658 RCV000114661 RCV001869552 RCV000123331 RCV000409069 RCV003474718 RCV000200796 RCV000200012 RCV001974943 RCV001887309 RCV001876976 RCV001872563 RCV001878669 RCV002037686 RCV001999924 RCV001941648 RCV001960567 RCV001939400 RCV001927118 RCV001936324 RCV001946732 RCV001950895 RCV001950906 RCV001941324 RCV001955718 RCV001068436 RCV001911029 RCV000123337 RCV001997081 RCV001929766 RCV001896468 RCV001932475 RCV002042347 RCV002051491 RCV002044551 RCV001914762 RCV002014639 RCV001954902 RCV002002329 RCV002007372 RCV002035391 RCV002002389 RCV001994806 RCV001912775 RCV001924382 RCV001926705 RCV001874157 RCV001887912 RCV001946504 RCV001931791 RCV001993359 RCV002035454 RCV002035460 RCV001908132 RCV001942165 RCV001941893 RCV001941952 RCV001942018 RCV001922912 RCV002002463 RCV001941626 RCV001972473 RCV001946989 RCV001953485 RCV001900492 RCV001970218 RCV001951083 RCV001936842 RCV001970020 RCV001958637 RCV001970050 RCV001956337 RCV001908527 RCV001953616 RCV001963210 RCV001959043 RCV001891953 RCV001992625 RCV002051379 RCV001913540 RCV001942535 RCV001911872 RCV000211073 RCV000799015 RCV000196008 RCV001924568 RCV003474754 RCV000635944 RCV001206798 RCV000205410 RCV000476828 RCV000797316 RCV000476449 RCV003453075 RCV000464043 RCV000466579 RCV000411345 RCV000529684 RCV000557471 RCV000635615 RCV000526519 RCV000195468 RCV000554009 RCV001849949 RCV001030200 RCV001030225 RCV000461816 RCV000701075 RCV001030237 RCV001030275 RCV001030343 RCV000411304 RCV000821314 RCV000230297 RCV000195604 RCV001030420 RCV000456418 RCV001030105 RCV000822164 RCV001030190 RCV000476387 RCV000114634 RCV000662710 RCV002223100 RCV003607433 RCV003475315 RCV002272648 RCV003454093 RCV003454097 RCV003454103 RCV005601892 RCV003454100 RCV003454166 RCV003454158 RCV000635960 RCV000232116 RCV000465671 RCV002466252 RCV003453275 RCV000528815 RCV000410708 RCV001238865 RCV000230419 RCV000463598 RCV001050697 RCV000471920 RCV000803061 RCV001036521 RCV003098435 RCV003454223 RCV003454229 RCV003103672 RCV003454263 RCV003454266 RCV003454280 RCV003100854 RCV003097140 RCV003100892 RCV003454333 RCV000540873 RCV003454398 RCV000635888 RCV000227242 RCV003455476 RCV000552616 RCV000635768 RCV000457524 RCV004589745 RCV000815197 RCV003336742 RCV001310142 RCV000635659 RCV000688589 RCV000463323 RCV003101993 RCV003455493 RCV003454335 RCV003098785 RCV004062649 RCV003336740 RCV003455487 RCV003455495 RCV003455516 RCV003102768 RCV003607553 RCV003102964 RCV003455507 RCV003455509 RCV003455523 RCV000168075 RCV000168057 RCV000168153 RCV000168094 RCV003064332 RCV002611968 RCV003112338 RCV002725994 RCV002750975 RCV002810532 RCV002796291 RCV002796347 RCV002792090 RCV002815557 RCV002807323 RCV002815169 RCV002851861 RCV002816518 RCV002857111 RCV002872244 RCV002847495 RCV002866494 RCV002848437 RCV002881325 RCV002852402 RCV002893935 RCV002848328 RCV002858413 RCV002848253 RCV002898881 RCV002867996 RCV002923267 RCV002909337 RCV002954240 RCV002958045 RCV000198016 RCV000199043 RCV003006079 RCV003023187 RCV003020548 RCV003015728 RCV003045640 RCV003045824 RCV003023464 RCV003045528 RCV003047180 RCV000204129 RCV000206761 RCV000206656 RCV000205865 RCV000204478 RCV000206812 RCV000204530 RCV000409735 RCV002517428 RCV000114525 RCV005090043 RCV000211063 RCV000211082 RCV000211071 RCV000211064 RCV000812433 RCV001384358 RCV003454620 RCV000533846 RCV003454610 RCV001857756 RCV001070907 RCV000231026 RCV000689332 RCV000635907 RCV003454646 RCV002518293 RCV001045962 RCV001064019 RCV000635786 RCV000686532 RCV000229872 RCV000468481 RCV000468711 RCV000467619 RCV000663079 RCV001221815 RCV000545701 RCV003454635 RCV001853499 RCV001389702 RCV001030203 RCV000685002 RCV000810472 RCV001060848 RCV001383290 RCV001045091 RCV000709748 RCV000551161 RCV000803336 RCV003140311 RCV003140327 RCV003140345 RCV003140367 RCV003140375 RCV003148447 RCV000226507 RCV000234617 RCV000227927 RCV000234710 RCV000231944 RCV000228882 RCV000231797 RCV000230496 RCV005101160 RCV003455777 RCV005425115 RCV000662671 RCV000477362 RCV000464814 RCV001854860 RCV000461617 RCV003454716 RCV003454718 RCV000465796 RCV001854854 RCV001382726 RCV000686286 RCV000696235 RCV000470633 RCV001855013 RCV000551424 RCV000576650 RCV001379452 RCV003454780 RCV001229856 RCV000552634 RCV003500524 RCV001390098 RCV001066196 RCV001218112 RCV000799725 RCV003454783 RCV002518769 RCV000576582 RCV003455782 RCV003455791 RCV003455792 RCV005102814 RCV003316918 RCV003316941 RCV003316958 RCV003316967 RCV003316978 RCV003317000 RCV003317001 RCV003455798 RCV003500835 RCV003485908 RCV003485909 RCV003485910 RCV003485911 RCV003455801 RCV003336888 RCV003334726 RCV003335750 RCV003455803 RCV003455809 RCV003455810 RCV003500841 RCV003450501 RCV003476595 RCV003450443 RCV003476598 RCV003476602 RCV003476604 RCV003476605 RCV003476606 RCV003476608 RCV003476611 RCV003450476 RCV003476612 RCV003450451 RCV003452251 RCV003476613 RCV003476615 RCV003452234 RCV003476616 RCV003476617 RCV003450440 RCV003450442 RCV003450444 RCV003450445 RCV003450446 RCV003450447 RCV003450448 RCV003450449 RCV003450450 RCV003450452 RCV003450453 RCV003450454 RCV003450455 RCV003450456 RCV003450457 RCV003450458 RCV003450459 RCV003450461 RCV003450463 RCV003450464 RCV003450466 RCV003450467 RCV003450469 RCV003450470 RCV003450471 RCV003450472 RCV003450473 RCV003450474 RCV003450475 RCV003450477 RCV003450478 RCV003450479 RCV003450480 RCV003450481 RCV003450482 RCV003450483 RCV003450484 RCV003450485 RCV003450486 RCV003450487 RCV003450488 RCV003450489 RCV003450491 RCV003450492 RCV003450493 RCV003450494 RCV003450496 RCV003450497 RCV003450498 RCV003450499 RCV003450500 RCV003450503 RCV003450504 RCV003450522 RCV003452217 RCV003452228 RCV003452229 RCV003452231 RCV003452232 RCV003452233 RCV003452235 RCV003452236 RCV003452237 RCV003452238 RCV003452239 RCV003452240 RCV003452242 RCV003452243 RCV003452244 RCV003452245 RCV003452246 RCV003452247 RCV003452248 RCV003452249 RCV003452250 RCV003452252 RCV003452253 RCV003452254 RCV003452255 RCV003452257 RCV003452258 RCV003452260 RCV003452261 RCV003452262 RCV003452263 RCV003452264 RCV003452265 RCV003452266 RCV003452267 RCV003452268 RCV003452269 RCV003452270 RCV003452271 RCV003452273 RCV003452274 RCV003452275 RCV003452276 RCV003452277 RCV003452279 RCV003452280 RCV003452281 RCV003452282 RCV003452283 RCV003452284 RCV003452285 RCV003452286 RCV003452288 RCV003452289 RCV003452290 RCV003452291 RCV003452292 RCV003452294 RCV003452295 RCV003452296 RCV003452297 RCV003452298 RCV003452299 RCV003452301 RCV003452302 RCV003452303 RCV003452304 RCV003452305 RCV003452306 RCV003452308 RCV003452309 RCV003452310 RCV003452311 RCV003452312 RCV003452313 RCV003452314 RCV003452315 RCV003452316 RCV003452317 RCV003452318 RCV003452319 RCV003452320 RCV003452321 RCV003452322 RCV003452323 RCV003452324 RCV003452325 RCV003452326 RCV003452327 RCV003452328 RCV003452329 RCV003452330 RCV003452331 RCV003452332 RCV003452333 RCV003452334 RCV003452335 RCV003452336 RCV003452337 RCV003452338 RCV003452339 RCV003452340 RCV003452341 RCV003452342 RCV003452344 RCV003452345 RCV003452346 RCV003452347 RCV003452348 RCV003452349 RCV003452350 RCV003452351 RCV003452353 RCV003452354 RCV003452355 RCV003452356 RCV003452357 RCV003452358 RCV003452360 RCV003452361 RCV003452362 RCV003452363 RCV003452364 RCV003452365 RCV003452366 RCV003452367 RCV003452368 RCV003452369 RCV003452370 RCV003452371 RCV003452372 RCV003452373 RCV003452374 RCV003452375 RCV003452376 RCV003452377 RCV003452378 RCV003452379 RCV003452380 RCV003452381 RCV003452382 RCV003452383 RCV003500972 RCV003501078 RCV003501116 RCV003501151 RCV003501158 RCV003500877 RCV003501053 RCV003501301 RCV003501512 RCV003501863 RCV003501967 RCV003501918 RCV003500116 RCV003500493 RCV003501013 RCV003500409 RCV003607673 RCV003607640 RCV003607641 RCV003607857 RCV003607841 RCV003607843 RCV003607890 RCV003608037 RCV003608031 RCV003607966 RCV003608003 RCV003608009 RCV003608044 RCV003608061 RCV003608096 RCV003608155 RCV003608206 RCV003608365 RCV003608380 RCV003608426 RCV003877756 RCV003867377 RCV004442474 RCV004442583 RCV004442615 RCV005059476 RCV005871509 RCV005100632 RCV004574427 RCV004574432 RCV004589108 RCV004589292 RCV004589331 RCV004589343 RCV004589366 RCV000412323 RCV000410678 RCV000409659 RCV000409294 RCV000410429 RCV000411169 RCV000410696 RCV001390153 RCV003449055 RCV000576715 RCV000635661 RCV001383427 RCV001861654 RCV003449105 RCV000687337 RCV002526374 RCV003449104 RCV000685167 RCV000534137 RCV003449103 RCV003239290 RCV000635689 RCV003476020 RCV000458746 RCV000466548 RCV000763378 RCV000465905 RCV000471018 RCV000460802 RCV000474845 RCV000456465 RCV000469612 RCV000461242 RCV000459119 RCV000472709 RCV000476540 RCV000461492 RCV000462145 RCV000463150 RCV000461710 RCV000469258 RCV000466376 RCV000465081 RCV000472293 RCV000469484 RCV000476239 RCV000470952 RCV000457054 RCV000476491 RCV000462844 RCV000524943 RCV002525797 RCV003449168 RCV000635719 RCV001851211 RCV000546704 RCV001238319 RCV003449257 RCV001385716 RCV000701403 RCV003449391 RCV001241216 RCV000823680 RCV000535566 RCV001380465 RCV001037839 RCV000543578 RCV000532289 RCV000537968 RCV000555459 RCV000547909 RCV000557714 RCV000533343 RCV000550532 RCV000539893 RCV000532811 RCV000524877 RCV000529207 RCV000527507 RCV000553727 RCV000556316 RCV000539206 RCV000549307 RCV000544422 RCV000552754 RCV003451225 RCV001242094 RCV000989559 RCV001858134 RCV001858207 RCV001224726 RCV000701534 RCV005091351 RCV001234382 RCV003485609 RCV000635833 RCV001067572 RCV001853733 RCV000814465 RCV002526836 RCV003451271 RCV003451259 RCV000989568 RCV003451241 RCV001858213 RCV000689768 RCV001220630 RCV001388322 RCV005091395 RCV000818431 RCV001221268 RCV001865724 RCV003607309 RCV000690752 RCV001030187 RCV000635756 RCV000810538 RCV000700246 RCV003451224 RCV000699114 RCV001858210 RCV000811566 RCV001053672 RCV003316741 RCV001388884 RCV003451273 RCV003451260 RCV001853819 RCV003451272 RCV000635645 RCV000576469 RCV000576705 RCV000576557 RCV000576777 RCV000576472 RCV000803999 RCV001225187 RCV002529271 RCV000989582 RCV001038568 RCV001236410 RCV001361268 RCV000635928 RCV000709749 RCV003451308 RCV000824261 RCV002529275 RCV000699553 RCV003451307 RCV001235208 RCV001030332 RCV003451337 RCV000709750 RCV000635687 RCV000635736 RCV000635848 RCV000635908 RCV000635924 RCV000635921 RCV000635787 RCV000635841 RCV000635690 RCV000635627 RCV000635811 RCV000635650 RCV001213219 RCV001234062 RCV001855356 RCV003607340 RCV001230455 RCV000662965 RCV001030207 RCV003451587 RCV003451585 RCV003451596 RCV000693352 RCV003451584 RCV004792352 RCV000662937 RCV000662949 RCV000662696 RCV000662619 RCV000662995 RCV001386777 RCV003453394 RCV000700359 RCV000684958 RCV000701919 RCV000706271 RCV000697453 RCV000690347 RCV000704651 RCV000704793 RCV000697381 RCV000707120 RCV000691345 RCV000702548 RCV000693623 RCV000693774 RCV000691368 RCV000702713 RCV003450523 RCV000704420 RCV000705480 RCV000794070 RCV000989552 RCV000989566 RCV000989571 RCV000989575 RCV000989583 RCV003453538 RCV001855858 RCV003453539 RCV003453607 RCV001388158 RCV003141762 RCV000820180 RCV003472298 RCV003453606 RCV001030115 RCV000781689 RCV000780562 RCV000780570 RCV000780563 RCV000811935 RCV000822592 RCV000824430 RCV000817697 RCV003453670 RCV000820703 RCV000811740 RCV000816115 RCV000793870 RCV000804000 RCV000808733 RCV000806144 RCV000813883 RCV000823630 RCV000793561 RCV000804479 RCV000796093 RCV000811041 RCV000792959 RCV000819449 RCV000820766 RCV000814528 RCV000794532 RCV000793562 RCV000799886 RCV000798117 RCV000814964 RCV000816456 RCV000821488 RCV000806217 RCV000989549 RCV000989554 RCV000989560 RCV000989576 RCV001860983 RCV003455110 RCV001213465 RCV001234330 RCV002551781 RCV002549416 RCV001214907 RCV001069080 RCV003455085 RCV003455079 RCV001380164 RCV001212735 RCV001860714 RCV001047370 RCV001237599 RCV001383301 RCV001057150 RCV001231405 RCV001242112 RCV003455131 RCV001238972 RCV003455126 RCV001203881 RCV001210284 RCV001070132 RCV003455068 RCV003455108 RCV002550843 RCV001860839 RCV003455077 RCV001253549 RCV003455145 RCV001030273 RCV001030270 RCV003455144 RCV001030260 RCV001030173 RCV003455143 RCV001030166 RCV003607393 RCV001030123 RCV001070945 RCV001064157 RCV001071265 RCV001045281 RCV001048107 RCV001048640 RCV001066853 RCV001066537 RCV001066073 RCV001062175 RCV001051067 RCV001070936 RCV001044695 RCV001051853 RCV001057876 RCV001049753 RCV001055176 RCV001058355 RCV001063796 RCV001051399 RCV001036628 RCV001069194 RCV001383117 RCV001377904 RCV001241932 RCV001204156 RCV001386173 RCV003449576 RCV005093989 RCV001205072 RCV001859135 RCV001207982 RCV002560886 RCV003449610 RCV003986055 RCV002555489 RCV003485687 RCV001215359 RCV001222257 RCV001223672 RCV001219418 RCV001215831 RCV001224985 RCV001225004 RCV001216596 RCV001223673 RCV001218271 RCV001220506 RCV001221032 RCV001205879 RCV001212590 RCV001203273 RCV001210505 RCV001211727 RCV001202645 RCV001207886 RCV001221542 RCV001234855 RCV001229089 RCV001237618 RCV001231818 RCV001229056 RCV001233672 RCV003450490 RCV001245959 RCV001246884 RCV001239480 RCV001248045 RCV001246893 RCV001238879 RCV001243527 RCV001238219 RCV003449818 RCV001377139 RCV003449834 RCV001523835	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial pancreatic carcinoma	Pathogenic	rs180177102	RCV005364990	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Family history of cancer	Pathogenic	rs1555461407	RCV002245019	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs886039480	RCV000509375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group N	Likely pathogenic; Pathogenic	rs2142431841, rs1597062406, rs2142300433, rs515726060, rs515726073, rs180177083, rs180177112, rs180177113, rs180177122, rs515726099, rs180177126, rs515726104, rs180177132, rs180177133, rs587776527, rs180177135, rs180177085, rs515726123, rs180177142, rs180177091, rs180177092, rs515726126, rs180177100, rs587776426, rs118203998, rs587776416, rs587776428, rs587776410, rs587781840, rs587782081, rs587782443, rs587782566, rs587782570, rs587782680, rs587776419, rs587776405, rs118203997, rs118203999, rs730881869, rs730881865, rs730881872, rs730881897, rs786203488, rs786203892, rs786203346, rs864622498, rs876659463, rs876659036, rs760094988, rs878855122, rs2506319680, rs886039613, rs515726111, rs757369748, rs995629797, rs1060502748, rs1064795824, rs1555461253, rs753153576, rs1555461415, rs1555459540, rs1555461796, rs1257545151, rs1555460334, rs1555457867, rs180177134, rs1967112121	RCV005014480 RCV005014535 RCV001580207 RCV002477267 RCV001030245 RCV005016383 RCV003330435 RCV001030304 RCV002498481 RCV005016386 RCV002477270 RCV002477271 RCV001535480 RCV000114596 RCV005003472 RCV000114618 RCV001030150 RCV002505027 RCV005016390 RCV004796018 RCV000114659 RCV002505029 RCV005003478 RCV005862984 RCV000763376 RCV001336119 RCV001781465 RCV004796029 RCV002492500 RCV002505111 RCV002498645 RCV004796031 RCV006253817 RCV001535939 RCV000763377 RCV004796039 RCV000001302 RCV000001304 RCV000001306 RCV002478488 RCV002492637 RCV005016481 RCV002498798 RCV005016482 RCV002243834 RCV005396496 RCV003483548 RCV002485348 RCV005016593 RCV004796114 RCV005016586 RCV002500815 RCV005399321 RCV003340766 RCV002481267 RCV000763378 RCV002489062 RCV001813781 RCV002496872 RCV003483659 RCV005018988 RCV005018970 RCV005018995 RCV004796236 RCV002476266 RCV002507076 RCV005019096 RCV001030405 RCV005021484	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs180177103, rs180177132, rs587776527, rs180177100, rs587776416, rs180177110, rs730881869, rs756519825, rs2142438133, rs2506505884, rs1966853670, rs876658348, rs876658431, rs876659326, rs1060502734, rs587776408, rs1555460315, rs1555460548, rs1555461154, rs1021662947, rs1597096243, rs864622481, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs1224428422, rs1966509881	RCV003162529 RCV005887874 RCV003162531 RCV003162546 RCV003162563 RCV003162588 RCV003162679 RCV003164576 RCV003164643 RCV003164682 RCV005926547 RCV003165554 RCV003165555 RCV003165565 RCV003168820 RCV003168821 RCV003159604 RCV003159963 RCV003159958 RCV003159983 RCV003160174 RCV003160177 RCV003160194 RCV003160193 RCV003160192 RCV003160188 RCV003160336 RCV003163743	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized hypopigmentation	Likely pathogenic; Pathogenic	rs786203714	RCV000414940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs754465466	RCV005933655	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Pathogenic; Likely pathogenic	rs180177097, rs515726067, rs515726071, rs180177102, rs515726073, rs180177083, rs180177111, rs180177122, rs180177126, rs180177131, rs515726104, rs180177132, rs180177133, rs587776527, rs180177135, rs515726117, rs515726123, rs180177092, rs515726126, rs180177100, rs587776426, rs118203998, rs587776416, rs2142253220, rs2142344237, rs587776428, rs587782081, rs180177110, rs587782462, rs587782566, rs587776415, rs587776407, rs1064795514, rs2506511810, rs730881869, rs730881876, rs730881870, rs786203488, rs753153576, rs764509489, rs786203714, rs786203821, rs587782337, rs375699023, rs876659859, rs876658813, rs747148023, rs864622280, rs587778587, rs879254062, rs886039503, rs886039480, rs2506500182, rs1335897946, rs2506495427, rs2142271504, rs2506395721, rs587776408, rs1555461294, rs1555461618, rs1555460445, rs1327399690, rs766394024, rs1555459540, rs750650768, rs1555461796, rs1555459386, rs767633741, rs1555461602, rs1555461870, rs1555460490, rs1555461611, rs1567221761, rs1248579792, rs1597073208, rs755263466, rs1597097182, rs1555462026, rs1597088811, rs1597096243, rs864622481, rs1966864847, rs1967007854, rs1966856604, rs1966797789	RCV003155912 RCV001193417 RCV001193415 RCV003155913 RCV005359041 RCV000588616 RCV003155914 RCV004782240 RCV000589949 RCV003155915 RCV001193464 RCV000588093 RCV003235042 RCV001030644 RCV000590634 RCV001193463 RCV003155916 RCV004760376 RCV001293421 RCV000588541 RCV003155917 RCV000587765 RCV000589589 RCV004690152 RCV003155979 RCV002225427 RCV005237567 RCV000824730 RCV002265620 RCV001824643 RCV003155925 RCV004586565 RCV005623061 RCV003156021 RCV003156022 RCV001193416 RCV003155926 RCV001804886 RCV004782275 RCV003155927 RCV003226227 RCV000587378 RCV000586368 RCV000586640 RCV000416712 RCV002277578 RCV004017527 RCV002307453 RCV005237732 RCV001193462 RCV004525908 RCV001778875 RCV003155937 RCV003236287 RCV003317953 RCV003455867 RCV003484243 RCV006262845 RCV005899487 RCV003155944 RCV000588990 RCV000587693 RCV003987611 RCV003155951 RCV004800477 RCV001553686 RCV004782452 RCV001269180 RCV000589273 RCV000590429 RCV000585929 RCV001775143 RCV001030717 RCV002271571 RCV003155956 RCV000845286 RCV003155957 RCV004702454 RCV005092410 RCV004017773 RCV001030651 RCV001030652 RCV005236531 RCV005859353 RCV006269323 RCV002241804 RCV001269178	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer	Likely pathogenic; Pathogenic	rs886039480	RCV000509375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2142367858, rs1555459747, rs2142327117, rs2506320907, rs752513498, rs2142374907, rs2142382015, rs2142389921, rs2142412914, rs2142415370, rs2142416277, rs2142419403, rs2142426807, rs2142432029, rs753676934, rs2142433522, rs2142443848, rs1966800194, rs2142251364, rs2142252781, rs515726083, rs180177097, rs515726060, rs180177099, rs515726067, rs515726071, rs180177102, rs180177103, rs515726073, rs515726075, rs180177083, rs515726081, rs180177084, rs180177111, rs180177112, rs587776417, rs180177115, rs1555459954, rs180177122, rs180177124, rs515726099, rs180177126, rs180177127, rs180177131, rs515726104, rs180177132, rs180177133, rs515726111, rs587776527, rs180177135, rs180177136, rs515726117, rs180177138, rs180177085, rs515726122, rs2142418150, rs515726123, rs180177090, rs180177142, rs180177091, rs180177092, rs515726126, rs1966865838, rs180177100, rs587780210, rs587780211, rs587776426, rs118203998, rs2142438340, rs2142424706, rs1966856854, rs2142457035, rs2142390444, rs587778584, rs587776416, rs2142434483, rs2142253220, rs2142410052, rs2142428256, rs2142384044, rs2142337034, rs587776418, rs2142429230, rs2142384476, rs2142445986, rs1184981956, rs2142374794, rs2142417496, rs876660475, rs1567221417, rs1833331932, rs2142389968, rs730881903, rs2142435242, rs587776428, rs587781457, rs587781560, rs587781662, rs587781697, rs587776423, rs587776410, rs587781840, rs587781890, rs587782005, rs587782050, rs587782081, rs587782232, rs180177110, rs587782443, rs587782446, rs587782462, rs587782531, rs587782566, rs587782570, rs587782680, rs587782892, rs587776411, rs587776406, rs587776413, rs587776414, rs587776415, rs587776419, rs587776420, rs587776425, rs587776407, rs587776405, rs587776408, rs587776409, rs118203997, rs118203999, rs2142389365, rs2142444537, rs202151522, rs1064795514, rs2506318342, rs2506572115, rs2506264238, rs2506486000, rs2142423775, rs2506215712, rs2506196596, rs2506196450, rs1597079557, rs2506508979, rs2506509176, rs2506486066, rs2506506429, rs2506485904, rs730881869, rs730881868, rs730881888, rs730881866, rs730881865, rs730881876, rs730881872, rs730881871, rs730881870, rs730881905, rs730881897, rs730881884, rs2506505979, rs2506484387, rs2506540052, rs2506500879, rs2506568316, rs2506496202, rs2506494447, rs786201086, rs2506496675, rs2506482646, rs2506469754, rs2506469600, rs2506478906, rs2506539351, rs2506469663, rs2506470530, rs2506469948, rs2142390682, rs2506490399, rs2506435689, rs2506439448, rs2506492767, rs2142386640, rs2506476872, rs2506534070, rs2506433317, rs2506434602, rs2142384677, rs2506419228, rs2506418702, rs587776424, rs786202008, rs786203488, rs786203775, rs2506519015, rs786203892, rs753153576, rs786203382, rs764509489, rs786202439, rs786203244, rs786201773, rs786203346, rs1555459994, rs786203714, rs786203057, rs786203399, rs786203821, rs2506415516, rs2506415158, rs2506519342, rs2506395456, rs2506395256, rs2506369952, rs879254144, rs2506417496, rs2506417320, rs1555460410, rs2506411822, rs2506396824, rs2506518476, rs2506350050, rs2506348737, rs2506335230, rs2506516970, rs2506488340, rs2506336717, rs756519825, rs886039683, rs2506320174, rs786204129, rs2506506863, rs2506413313, rs2506402179, rs1966853670, rs863224521, rs2506214923, rs2506480988, rs864622192, rs587782337, rs864622301, rs864622695, rs864622498, rs375699023, rs869312774, rs1555460360, rs869312772, rs875989791, rs876658695, rs876660492, rs876660574, rs876658773, rs876659859, rs876658136, rs876658157, rs778345761, rs876659463, rs876659378, rs876659036, rs876660147, rs876658983, rs45476495, rs876660643, rs876660678, rs876658358, rs876658813, rs876658348, rs747148023, rs876659997, rs876658170, rs876659571, rs876659697, rs876660193, rs876658855, rs752592662, rs760094988, rs876659341, rs876658166, rs876659741, rs876658431, rs876659326, rs876658192, rs876659328, rs864622280, rs876660719, rs876659405, rs876660465, rs876659319, rs876659679, rs876659063, rs180177094, rs878855118, rs746604683, rs587778587, rs878855122, rs878855123, rs2506513633, rs2506348819, rs2506408745, rs45602040, rs780524136, rs886039729, rs587782217, rs879254113, rs879254060, rs755471995, rs749602688, rs879253892, rs879254197, rs879254062, rs886039503, rs886039634, rs886039619, rs886039645, rs886039626, rs886039480, rs886039479, rs886039614, rs745533713, rs886039686, rs886039747, rs886041220, rs1060502759, rs2142271053, rs771665040, rs2506318271, rs1269970394, rs1555461472, rs2506319680, rs2506264526, rs1188755325, rs2506492441, rs1555461553, rs2506482713, rs2506265634, rs2506405176, rs2142390387, rs2506487272, rs2506477651, rs2506540801, rs864622481, rs2142458017, rs1555458171, rs2506477382, rs2142328321, rs2506197444, rs2142416694, rs2506481423, rs2142447291, rs2506429279, rs2506512269, rs2506492135, rs2506372023, rs2506219037, rs2506396717, rs2506513116, rs2506484093, rs2142300225, rs2506493372, rs2506397575, rs1567217128, rs2506423965, rs2506214884, rs2506472466, rs2506412889, rs2506318177, rs2506196933, rs2506404649, rs2506482665, rs2506495781, rs2506425029, rs2506439815, rs2506484896, rs2142422250, rs2506196512, rs2506490833, rs1597097263, rs2506536640, rs2506486770, rs1966979701, rs2506426318, rs2506424378, rs2506401937, rs2506515843, rs2506512121, rs754465466, rs1057517563, rs1057517600, rs1057517539, rs1057517602, rs1057517585, rs1057520736, rs1057520653, rs1060499828, rs1060499827, rs1555459520, rs1060499824, rs1060499823, rs1060499821, rs1060499819, rs1060499818, rs1555461413, rs1060499815, rs1060499813, rs1060499812, rs1555461517, rs1060499831, rs1060499830, rs1060499814, rs757369748, rs1060499829, rs1555458828, rs1060502781, rs1060502803, rs1060502734, rs1060502805, rs1060502804, rs995629797, rs1060502800, rs1060502761, rs1555461294, rs1060502772, rs1060502764, rs1060502726, rs1060502785, rs1555461727, rs1060502738, rs1060502760, rs1060502748, rs1060502788, rs1060502769, rs1064795824, rs1064795168, rs1064795640, rs1064793772, rs1555460682, rs1555460315, rs1555460407, rs1555460670, rs769240800, rs1218512317, rs754660432, rs1555458187, rs1555461295, rs1555461484, rs1555461875, rs879254033, rs1555458815, rs1555461217, rs1555461253, rs1555461790, rs1555459553, rs876659354, rs1555461765, rs1555459599, rs1555460431, rs1555460445, rs876660669, rs1555460548, rs1555460579, rs1555460648, rs1555461148, rs1555459999, rs1555461287, rs1555461339, rs1555460671, rs1555460457, rs1555460463, rs1555461460, rs1555461154, rs1555460609, rs1555461278, rs1555461366, rs1555461415, rs1555461502, rs1555461407, rs1555461586, rs1555461597, rs1555461467, rs1485260432, rs1555461551, rs1327399690, rs1555461695, rs1555458211, rs766394024, rs1555459528, rs1555459540, rs1555459934, rs750650768, rs1555460423, rs1555460442, rs1555460465, rs1555460526, rs1555461174, rs1555461178, rs1555461606, rs515726127, rs749731838, rs1555461868, rs515726118, rs1555461256, rs1555461704, rs1555461796, rs1555459386, rs1555461280, rs1555461733, rs1555462026, rs1021662947, rs1555460593, rs1555461363, rs1257545151, rs1555461488, rs1555458223, rs78179744, rs767633741, rs1555460323, rs1555461192, rs1555461408, rs1555461684, rs1555461870, rs1555457841, rs773829275, rs1555460533, rs1555457867, rs1555460490, rs1555460650, rs1555461358, rs1555461385, rs1555461611, rs1555461777, rs1555462031, rs1555461451, rs1555461176, rs1555461627, rs1567206756, rs1567213009, rs1567221493, rs1567221521, rs1567222725, rs1567206804, rs1567221761, rs1567214484, rs1567206813, rs1567222943, rs1567222143, rs1567218036, rs1567224232, rs1567209835, rs1567217898, rs1567220758, rs1567206909, rs1567212825, rs1219715328, rs1567214312, rs1567217830, rs1567220802, rs1567222523, rs1567222580, rs1248579792, rs1567214493, rs755263466, rs1597061983, rs1597062083, rs1597079711, rs1597079941, rs1597081571, rs770996884, rs1597089434, rs1597089845, rs1597090596, rs1597091425, rs1597096949, rs929474806, rs1597097182, rs1597097408, rs45494092, rs1597098996, rs876658979, rs1597066595, rs1597082866, rs1597062038, rs1597062296, rs1597073266, rs1597081202, rs757055720, rs1555459925, rs1597088245, rs1597088811, rs1060502768, rs1597089246, rs1597089741, rs1597089904, rs1597090059, rs1597090146, rs1597090324, rs1597090656, rs1555460592, rs1597090894, rs1597090903, rs1241049372, rs1597095394, rs1597095683, rs1597096243, rs1597096326, rs1597096338, rs1597097072, rs1597097936, rs1597098094, rs779278389, rs1597098679, rs1597098943, rs1597098971, rs1597099149, rs1597099331, rs1597099523, rs1597101532, rs1597101822, rs1597062406, rs1597091518, rs1597101736, rs1597101776, rs1966510490, rs1555460542, rs1966865214, rs1966771907, rs1224428422, rs1966855759, rs1966856749, rs1966862297, rs1966864847, rs1967002667, rs1966404530, rs1966506715, rs1567213829, rs1966858159, rs1966861886, rs1966863209, rs1966865768, rs1966952995, rs1966967463, rs1966974831, rs1967001584, rs1967007854, rs1967011347, rs1967027806, rs1967057228, rs1967112121, rs1967113249, rs373287455, rs1967232172, rs1555459421, rs1966842247, rs1555457878, rs776284609, rs1966862408, rs1966861906, rs1966981959, rs1555461386, rs1966988658, rs1966856585, rs1966856604, rs1966798806, rs1966797789	RCV003169768 RCV002438885 RCV002447506 RCV002435690 RCV001775034 RCV004037700 RCV005453289 RCV005692339 RCV004037692 RCV004651633 RCV002395865 RCV005453288 RCV002413914 RCV002447507 RCV002377576 RCV002432070 RCV003584918 RCV001524666 RCV004039185 RCV002458557 RCV004040750 RCV000215551 RCV000129806 RCV000165605 RCV000129522 RCV000129889 RCV000132474 RCV000131237 RCV000572212 RCV000584219 RCV000163078 RCV002426653 RCV000772121 RCV000164897 RCV000129116 RCV001171466 RCV000116088 RCV000563499 RCV000562748 RCV003162530 RCV000220116 RCV000132234 RCV000213482 RCV000584711 RCV000129785 RCV000116096 RCV000131150 RCV002321588 RCV000160853 RCV000132282 RCV000213830 RCV000130740 RCV002453424 RCV001021525 RCV000562468 RCV001804439 RCV000130658 RCV000771207 RCV000164203 RCV000210097 RCV000116112 RCV000129208 RCV001805610 RCV000116064 RCV000116079 RCV000116085 RCV000116106 RCV000116108 RCV005692376 RCV004651866 RCV004044362 RCV002386659 RCV002397981 RCV000160806 RCV000129400 RCV005382241 RCV002334766 RCV002397779 RCV002407093 RCV002423126 RCV005692431 RCV002441103 RCV002386638 RCV002423136 RCV002442946 RCV002388825 RCV005401881 RCV005453432 RCV002407185 RCV002334971 RCV004044375 RCV004945835 RCV004945838 RCV004656702 RCV000129272 RCV000129390 RCV000129579 RCV000129810 RCV000129864 RCV000130058 RCV000130093 RCV000130137 RCV000130222 RCV000130421 RCV000130518 RCV000130577 RCV000130929 RCV000131502 RCV000131508 RCV000131515 RCV000131549 RCV000131730 RCV000131789 RCV000131794 RCV000132106 RCV000132530 RCV001525190 RCV000566566 RCV000454158 RCV004658974 RCV000562385 RCV005401334 RCV000567638 RCV002433626 RCV000164723 RCV000454197 RCV000576041 RCV000566830 RCV002371980 RCV005692178 RCV000217204 RCV000129158 RCV000129469 RCV002256990 RCV002258422 RCV002256995 RCV002256997 RCV005692479 RCV002319789 RCV002322961 RCV002443356 RCV002333658 RCV002333831 RCV002326153 RCV002457173 RCV002457216 RCV002326111 RCV002338393 RCV002338569 RCV002340467 RCV002355988 RCV002351429 RCV001016726 RCV000160810 RCV000160809 RCV002426793 RCV000160807 RCV000160805 RCV000771400 RCV000575109 RCV000454254 RCV000574923 RCV000561729 RCV000572657 RCV000567534 RCV002358367 RCV002364645 RCV002434900 RCV002393884 RCV002376351 RCV002378465 RCV002374244 RCV002419503 RCV002376068 RCV002383256 RCV002403821 RCV002405867 RCV002389269 RCV002389622 RCV002403550 RCV002403601 RCV002403755 RCV002399116 RCV002407918 RCV002410015 RCV002414706 RCV002398818 RCV002408081 RCV002394664 RCV002414895 RCV002414959 RCV002412734 RCV002423443 RCV002432768 RCV002425448 RCV000165289 RCV000164597 RCV000166810 RCV000167226 RCV002431047 RCV000167394 RCV000165555 RCV000166663 RCV000166057 RCV000165251 RCV000166469 RCV000164237 RCV000166617 RCV002428590 RCV000167136 RCV000166194 RCV000166687 RCV000167296 RCV002420183 RCV002443566 RCV002448518 RCV002426070 RCV002426092 RCV002431204 RCV002417103 RCV002425632 RCV002425785 RCV002446269 RCV002446436 RCV002434947 RCV002453048 RCV002441475 RCV002441742 RCV002439841 RCV002444322 RCV002435112 RCV002437726 RCV002435654 RCV002435838 RCV002435932 RCV000454148 RCV000564048 RCV004946068 RCV005398995 RCV004946080 RCV003367916 RCV000580827 RCV000215206 RCV005692541 RCV005692543 RCV006406657 RCV000217334 RCV001018084 RCV002390551 RCV000223136 RCV000568484 RCV000210123 RCV000210140 RCV000210113 RCV004020583 RCV000219269 RCV000217312 RCV000214247 RCV000215626 RCV000217139 RCV000215931 RCV000222632 RCV000222262 RCV000214215 RCV000217162 RCV000219424 RCV000223425 RCV000216899 RCV000217992 RCV000215674 RCV000213186 RCV000216440 RCV000217161 RCV000217072 RCV000218515 RCV000218689 RCV000220967 RCV000213608 RCV000214754 RCV000216333 RCV000222029 RCV000223583 RCV000214899 RCV000217519 RCV000222117 RCV000219937 RCV000218688 RCV000222919 RCV000219994 RCV000217719 RCV000219378 RCV000217069 RCV000214798 RCV000223009 RCV000223492 RCV000221819 RCV000218745 RCV006411813 RCV004020882 RCV003352808 RCV000454198 RCV000454231 RCV000582525 RCV002436040 RCV003182751 RCV003182755 RCV003182759 RCV003182763 RCV003182764 RCV003182766 RCV001020433 RCV000454361 RCV000575894 RCV000454296 RCV002418041 RCV004649111 RCV005692190 RCV001010853 RCV002418043 RCV000568838 RCV001525205 RCV000569707 RCV005692192 RCV001018066 RCV001017834 RCV002429197 RCV000454204 RCV002392782 RCV002347972 RCV000454359 RCV006406661 RCV001013160 RCV000454239 RCV003310530 RCV003311295 RCV003278570 RCV003311298 RCV003278578 RCV003311306 RCV003311309 RCV003311311 RCV004943012 RCV003585380 RCV003389273 RCV003360860 RCV003360862 RCV003360866 RCV003360868 RCV003360869 RCV003360870 RCV004943045 RCV003585408 RCV004364752 RCV005455798 RCV005403315 RCV004943042 RCV004364753 RCV003585399 RCV004661659 RCV004943043 RCV004654227 RCV004943044 RCV004943046 RCV006411839 RCV004364757 RCV006411840 RCV005455799 RCV003585401 RCV004364758 RCV006411841 RCV005455800 RCV006411842 RCV005692605 RCV005455801 RCV005455802 RCV004364759 RCV003585402 RCV004943069 RCV004366492 RCV004661675 RCV003585690 RCV003585699 RCV003585705 RCV005387213 RCV004943151 RCV005387226 RCV004943298 RCV004654393 RCV004517721 RCV004517722 RCV004517725 RCV004517727 RCV004517729 RCV004517745 RCV004517747 RCV004517755 RCV004517774 RCV004517780 RCV005468117 RCV002450948 RCV000565546 RCV001019201 RCV001176291 RCV000454290 RCV002411276 RCV000567207 RCV001525971 RCV005384711 RCV005384712 RCV000454312 RCV000454196 RCV000454143 RCV000454187 RCV000454241 RCV000454214 RCV000454277 RCV000454322 RCV000454252 RCV000454134 RCV000454221 RCV000454229 RCV000454356 RCV000454170 RCV000454180 RCV000454341 RCV000454354 RCV000454301 RCV000454282 RCV000775816 RCV001017569 RCV004649163 RCV000709384 RCV001012094 RCV005452993 RCV000568217 RCV000775927 RCV000570661 RCV000561742 RCV001011563 RCV000709386 RCV001005051 RCV001020064 RCV000566729 RCV005692206 RCV001183458 RCV003362794 RCV000777931 RCV004649161 RCV002402280 RCV001177042 RCV000568432 RCV002455916 RCV000568264 RCV006424622 RCV001178087 RCV003168945 RCV002404276 RCV001015644 RCV005692211 RCV003362804 RCV000575810 RCV003362812 RCV000568799 RCV002323942 RCV002395342 RCV000563951 RCV001014881 RCV002456088 RCV001019991 RCV000567119 RCV002404412 RCV003380605 RCV000567362 RCV000567132 RCV002438336 RCV002413486 RCV001189642 RCV000565155 RCV000562315 RCV000568921 RCV000567438 RCV000568858 RCV000574502 RCV000571927 RCV000563292 RCV000565846 RCV000563104 RCV000563623 RCV000572683 RCV000561696 RCV000571605 RCV000567168 RCV000574863 RCV000571165 RCV000571878 RCV000572411 RCV000570053 RCV000566479 RCV000564999 RCV000564651 RCV000561471 RCV000567486 RCV000574408 RCV000573428 RCV000561198 RCV000565917 RCV000573235 RCV000573816 RCV000565551 RCV000570666 RCV000568077 RCV000573011 RCV000573531 RCV000564873 RCV000565870 RCV000564176 RCV000569592 RCV000569964 RCV000561628 RCV000561038 RCV000575223 RCV000570851 RCV000570259 RCV000567395 RCV000570673 RCV000569937 RCV000565598 RCV000564818 RCV000562700 RCV000573756 RCV000562722 RCV000561202 RCV002395497 RCV003159970 RCV002330992 RCV000584638 RCV000582395 RCV000583187 RCV000584485 RCV000581906 RCV000581301 RCV000582393 RCV000582558 RCV000582943 RCV000582948 RCV000581296 RCV000581225 RCV000581632 RCV000582849 RCV000583934 RCV000581596 RCV000582329 RCV000583714 RCV000583625 RCV001016046 RCV003584668 RCV002334080 RCV003303005 RCV001190673 RCV002388041 RCV004025467 RCV002458171 RCV004659158 RCV003362882 RCV002386129 RCV002360680 RCV001027286 RCV005384809 RCV002422438 RCV001177937 RCV004944081 RCV002406519 RCV000708618 RCV004944083 RCV002360830 RCV002257939 RCV001186986 RCV001176912 RCV001015744 RCV002388318 RCV001179107 RCV001019756 RCV000774810 RCV000708621 RCV000709382 RCV000709390 RCV000755034 RCV000755035 RCV002406678 RCV001012123 RCV000776675 RCV000773460 RCV000772898 RCV000773791 RCV000776932 RCV000773666 RCV000774849 RCV000776407 RCV000777067 RCV000772890 RCV002440616 RCV002422668 RCV001026625 RCV004028753 RCV006406764 RCV002442769 RCV002440690 RCV003372883 RCV001015972 RCV002453822 RCV001184411 RCV002415945 RCV002397591 RCV001010033 RCV002325498 RCV002427039 RCV002390692 RCV004027491 RCV002345781 RCV004944161 RCV002319908 RCV004944181 RCV002320202 RCV002434376 RCV001020375 RCV001020185 RCV001018949 RCV001017636 RCV001016698 RCV001016442 RCV001015824 RCV001015636 RCV001015370 RCV001015281 RCV001014841 RCV001014493 RCV001014530 RCV001014427 RCV001014229 RCV001013802 RCV001013686 RCV001013510 RCV001013484 RCV001012602 RCV001012547 RCV001012389 RCV001012126 RCV001011656 RCV001011273 RCV001011085 RCV001011002 RCV001017382 RCV001017320 RCV001016993 RCV001018411 RCV001017717 RCV001026070 RCV001025300 RCV001024007 RCV001023835 RCV001023095 RCV001022029 RCV001020314 RCV001010235 RCV001016979 RCV001020063 RCV001018702 RCV001016727 RCV001012706 RCV001017254 RCV001009843 RCV001009842 RCV005401690 RCV004030912 RCV003584801 RCV002436654 RCV002436571 RCV003283899 RCV002429722 RCV005055451 RCV001179988 RCV002400256 RCV003283917 RCV001187628 RCV001183833 RCV001190295 RCV001180733 RCV001179792 RCV001188618 RCV001176247 RCV001189799 RCV001187237 RCV001190095 RCV001189228 RCV001177020 RCV001184698 RCV001191198 RCV001180283 RCV001186381 RCV001187410 RCV001182344 RCV001185110 RCV001185166 RCV001178653 RCV001180726 RCV001188593 RCV001188977 RCV002451471 RCV003584855 RCV004944877 RCV002418673 RCV005692307 RCV002393575 RCV001526202 RCV002327561 RCV002451600 RCV002447223 RCV002255638 RCV002436980 RCV005403011	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited breast cancer and ovarian cancer	Likely pathogenic; Pathogenic	rs515726067, rs180177083, rs180177132, rs180177133, rs587782680, rs118203998, rs2506469663, rs786203346, rs863224521, rs45476495, rs876658813, rs1555460465, rs1567214484	RCV006439638 RCV005862978 RCV004584191 RCV006276071 RCV006252559 RCV005430457 RCV006437147 RCV006261952 RCV005893587 RCV005237756 RCV006252561 RCV006438429 RCV006255180	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited ovarian cancer (without breast cancer)	Pathogenic; Likely pathogenic	rs180177132, rs730881869	RCV004584192 RCV006439680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited prostate cancer	Pathogenic	rs876658813, rs1060502769	RCV006252562 RCV004584215	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs878855122	RCV002282082	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome 1	Pathogenic; Likely pathogenic	rs180177099, rs2142271759	RCV003485539 RCV002267180	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Likely pathogenic; Pathogenic	rs2142250624, rs2142367858, rs1443637540, rs2142251364, rs515726060, rs180177103, rs180177111, rs180177132, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs515726123, rs180177092, rs180177100, rs587780210, rs587781697, rs587782005, rs180177110, rs587782531, rs587782680, rs587776419, rs730881868, rs786203775, rs786203714, rs863224521, rs375699023, rs876658192, rs878855122, rs2506348014, rs886039683, rs1060502769, rs869312772, rs1555461217, rs1555461765, rs1555461460, rs1555461407, rs1555461586, rs1555457867, rs755263466, rs1597062038, rs45494092, rs1597091518, rs1966967065, rs62625271	RCV001354466 RCV001357551 RCV004800194 RCV001526973 RCV001260315 RCV001357967 RCV001355683 RCV001535480 RCV001357097 RCV002307393 RCV001356710 RCV004798779 RCV001355561 RCV001356172 RCV001535793 RCV001354096 RCV005055585 RCV001358375 RCV001357166 RCV001264577 RCV001355806 RCV001357590 RCV001268941 RCV002271430 RCV002271440 RCV001356904 RCV005237703 RCV001358472 RCV006268674 RCV001175093 RCV003226849 RCV003492021 RCV001355700 RCV001731713 RCV002231716 RCV001293572 RCV004800474 RCV001357628 RCV004701661 RCV004526734 RCV001355597 RCV003226417 RCV004689957 RCV001358477 RCV001779104 RCV001201230	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of pancreas	Pathogenic	rs587776416, rs1555461176	RCV000677893 RCV000677895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm of uterus	Pathogenic	rs1555461407	RCV002245019	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroendocrine tumor of pancreas	Pathogenic	rs1555461627	RCV000677896	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NICE approved PARP inhibitor treatment	Pathogenic	rs180177132	RCV004577322	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian carcinoma	Likely pathogenic; Pathogenic	rs2142252781	RCV001644558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PALB2-related cancer predisposition	Likely pathogenic; Pathogenic	rs515726067, rs180177102, rs180177084, rs180177115, rs180177132, rs180177133, rs180177136, rs515726117, rs587776426, rs118203998, rs587776418, rs587776415, rs786203382, rs2506413914, rs864622498, rs876659859, rs876659997, rs876659741, rs878855123, rs2142412586, rs1555461765, rs1555461597, rs1327399690, rs1567222725, rs1597101776, rs1597090596	RCV005364989 RCV005639025 RCV005359044 RCV005639028 RCV005639030 RCV006249590 RCV005359051 RCV005639032 RCV005359105 RCV005639034 RCV005639058 RCV005639037 RCV005639040 RCV005356200 RCV005361189 RCV005639044 RCV005365163 RCV005361316 RCV005639046 RCV006249867 RCV005639049 RCV005639050 RCV005639052 RCV005639054 RCV005639055 RCV005359931	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PALB2-related disorder	Pathogenic; Likely pathogenic	rs180177103, rs515726081, rs515726104, rs180177132, rs180177133, rs587776527, rs180177136, rs515726123, rs180177092, rs515726126, rs180177100, rs587776426, rs118203998, rs587776428, rs587782005, rs587782081, rs180177110, rs587782566, rs587782680, rs730881869, rs730881868, rs730881876, rs764509489, rs786203346, rs515726099, rs747148023, rs876659997, rs878855122, rs886039503, rs1060502805, rs754660432, rs1555461366, rs1555461597, rs1555457867, rs1567222523, rs1967007854	RCV004529917 RCV004529920 RCV004739375 RCV004528792 RCV004739376 RCV004528793 RCV004528794 RCV004528797 RCV004739381 RCV004542815 RCV004529946 RCV004528808 RCV004528809 RCV004545747 RCV003387508 RCV004739445 RCV004739453 RCV004739459 RCV004739460 RCV004528063 RCV004544473 RCV004724949 RCV004724950 RCV004528915 RCV004724960 RCV004528920 RCV005250039 RCV004532801 RCV004532964 RCV004535238 RCV004529598 RCV004527630 RCV004545787 RCV004530600 RCV004740390 RCV004740447 RCV004740549 RCV005232162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancreatic cancer, susceptibility to, 3	Pathogenic; Likely pathogenic	rs2142298541, rs2142325910, rs2142431841, rs1597062406, rs515726060, rs180177083, rs587776417, rs180177122, rs515726099, rs180177126, rs515726104, rs180177132, rs180177133, rs587776527, rs180177135, rs180177085, rs515726123, rs180177142, rs180177091, rs180177092, rs515726126, rs180177100, rs587780210, rs118203998, rs587776416, rs587776428, rs587776410, rs587781840, rs587782081, rs587782443, rs587782566, rs587782570, rs587782680, rs587776419, rs587776405, rs730881869, rs730881865, rs730881872, rs730881897, rs786203892, rs786203346, rs864622498, rs876659463, rs876659036, rs876659571, rs760094988, rs587778587, rs878855122, rs886039619, rs745533713, rs2506319680, rs515726111, rs1060499814, rs757369748, rs995629797, rs1060502769, rs1064795824, rs1555460431, rs753153576, rs1555461415, rs1555459540, rs1555461796, rs1257545151, rs1555460334, rs1555457867, rs1967112121, rs1966798806	RCV001355345 RCV001354294 RCV005014480 RCV005014535 RCV002477267 RCV005016383 RCV000001312 RCV002498481 RCV005016386 RCV002477270 RCV002477271 RCV001535480 RCV002498485 RCV000114612 RCV002498488 RCV004776431 RCV001258079 RCV005016390 RCV004796018 RCV002505028 RCV002505029 RCV004555854 RCV001258078 RCV000763376 RCV002492445 RCV005016432 RCV004796029 RCV002492500 RCV002505111 RCV001258080 RCV004796031 RCV006253817 RCV001535939 RCV000763377 RCV004796039 RCV001355428 RCV002478488 RCV002492637 RCV005016481 RCV002498798 RCV005016482 RCV005396496 RCV003483548 RCV002288830 RCV005016593 RCV004796114 RCV001357568 RCV005016586 RCV001030314 RCV002500815 RCV005361500 RCV002272200 RCV005399321 RCV002481267 RCV001258109 RCV000763378 RCV002489062 RCV004796185 RCV002496872 RCV003338667 RCV005018988 RCV005018970 RCV005018995 RCV004796236 RCV002476266 RCV002507076 RCV005019096 RCV001258101 RCV005021484 RCV001258100	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 20	Pathogenic	rs180177100	RCV005862983	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus cancer	Likely pathogenic; Pathogenic	rs864622695	RCV003128160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic; Likely pathogenic	rs1966856854, rs876659463	RCV005924371 RCV005902092	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic ependymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
bilateral breast cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile duct cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast-ovarian cancer, familial, susceptibility to, 2	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chordoma	Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial carcinoma	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia/tracheoesophageal fistula	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial ovarian cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP N	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST AND/OR OVARIAN CANCER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CANCER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infiltrating duct carcinoma of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung sarcomatoid carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian neoplasm	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pilocytic astrocytoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple-negative breast cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30472259		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	21989927, 29223478		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	20412113, 21207249, 22664588		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	28398700	Associate	★☆☆☆☆ Found in Text Mining only
Anal canal squamous cell carcinoma	Anal Canal carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	24949998, 26990772	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	33229504	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27106063, 29223478, 30258276		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	31787751, 31976786, 36717525, 37200008	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	25390645	Associate	★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	29190888		★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	BEFREE	21165770, 29988077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
bilateral breast cancer	Breast Cancer	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral Malignant Neoplasm	Bilateral Malignant Neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	32012241, 36243179	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	17554300, 21254220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	17554300, 21254220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	20872766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20872766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	28283021	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	36978154	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	28837162	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32554798, 34687993	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	16793542, 17287723, 19383810, 21285249, 23657012, 24136930, 25225577, 25959805, 28319063		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	17287723, 18053174, 18501021, 19383810, 19763819, 19763884, 20122277, 20852946, 21113654, 21285249, 21336636, 21365267, 21618343, 22052327, 22505525, 23341105, 23650262, 23935836, 24136930, 24415441, 24556926, 25099575, 25636233, 25666743, 25794774, 25833210, 29522266, 30086788, 30303537, 30733081, 30947698		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	GENOMICS_ENGLAND_DG	23657012		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	ORPHANET_DG	25099575		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17200668, 17287723, 17292821, 17420451, 17768402, 18053174, 18258506, 18281473, 18288683, 18302019, 18414782, 18446436, 18501021, 18544032, 18628482, 18794107, 19333784, 19383810, 19737859, 19763819, 19763884, 19863560, 19921424, 20046159, 20213081, 20412113, 20512659, 20582465, 20722467, 20844547, 20852946, 20858716, 20871615, 20872766, 21113654, 21165770, 21165771, 21182766, 21285249, 21336636, 21365267, 21409391, 21415078, 21461995, 21618343, 21932393, 21947752, 21989927, 22052327, 22166947, 22241545, 22383991, 22505525, 22692731, 22725699, 23021409, 23038782, 23300655, 23302520, 23341105, 23448497, 23471749, 23657012, 23747889, 23787919, 23824750, 23941127, 23977390, 24061862, 24136930, 24141787, 24153426, 24206657, 24415441, 24460267, 24556926, 24870022, 24949998, 25099575, 25447460, 25467110, 25529982, 25575445, 25636233, 25666743, 25794774, 25959805, 26283626, 26411315, 26489409, 26523341, 26526077, 26564480, 26573693, 26640152, 26757417, 26981788, 26985847, 27106063, 27277787, 27401444, 27469594, 27573125, 27595995, 27624329, 27648926, 27798748, 27902704, 27974172, 28085182, 28158555, 28194609, 28279176, 28319063, 28418444, 28419251, 28664506, 28796317, 28825143, 28837162, 28858227, 29052111, 29321957, 29338689, 29361001, 29426838, 29431189, 29484706, 29706558, 29802286, 30099541, 30128536, 30289697, 30309218, 30458447, 30552643, 30720863, 30799775, 30933323, 31017574, 31054147, 31067289, 31089269, 31206626, 31446535, 31467304, 31580391, 31757951, 31768816, 31786208		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	CLINVAR_DG	20122277, 20412113, 21182766, 21285249, 23448497		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	28825726		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Diseases	Breast Diseases	BEFREE	18446436		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	29802286	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16793542, 17200668, 17292821, 17420451, 18053174, 18288683, 18637200, 19264984, 19584259, 20003494, 20122277, 20512659, 20871615, 21113654, 21165770, 21182766, 21285249, 21356067, 21365267, 21637299, 21932393, 22166947, 22241545, 22331464, 22383991, 23038782, 23302520, 23409019, 23448497, 23787919, 23935836, 23941127, 23977390, 24141787, 24153426, 24206657, 24415441, 24485656, 24556926, 24591564, 24884479, 24949998, 25099575, 25288723, 25428789, 25447460, 25452441, 25575445, 25636233, 26283626, 26489409, 26640152, 26641009, 26873923, 27464310, 27595995, 27624329, 27648926, 27757719, 27902704, 28011157, 28027327, 28158555, 28279176, 28319063, 28407996, 28418444, 28419251, 28664506, 28779002, 28796317, 28837162, 28864920, 28891274, 29052111, 29325031, 29338689, 29422015, 29522266, 29802286, 29988077, 30054569, 30086788, 30099541, 30128536, 30130155, 30255452, 30257646, 30287823, 30303537, 30309218, 30890586, 30947698, 30964716, 31017574, 31206626, 31300551, 31342359, 31575519, 31586400, 31636395, 31841383, 31871109, 32068069, 32091585, 32125938, 32300229, 32318955, 32339256, 32427313, 32609350, 33113089, 33169439, 33277227, 33318493, 33421217, 33455826, 33471991, 33560870, 33606809, 33826040, 33964450, 33976419, 34036661, 34042955, 34101481, 34113003, 34196900, 34230637, 34282249, 34292776, 34299313, 34377931, 34455229, 34461861, 34672684, 34793666, 34846068, 34857041, 34866136, 34946951, 34977446, 35054852, 35084436, 35167615, 35187501, 35264596, 35277653, 35293552, 35329227, 35333900, 35353237, 35396981, 35409110, 35468796, 35564499, 35585550, 35779338, 35868849, 35886069, 36122798, 36162852, 36175305, 36232564, 36315097, 36509001, 36655350, 36827971, 37084156, 37096751, 37169825, 37344780, 37470892, 37628581, 37628606, 37661222, 37861889, 37992259, 38098088, 38244928, 38326120, 38422475, 38636249, 39226054, 39684352, 40288678, 40428378, 40523834	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23585894	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26534844	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	20927582, 27648926, 28008555, 31841383, 32554798, 34461861, 39889220	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	37262986	Stimulate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34946951, 35333900	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30089731	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25575445	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	23302520	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	31060593, 33758026	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	20927582, 22052327, 25529982, 27648926, 28008555, 31336362		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30640700, 36162851, 37493628	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24293293, 27732944, 27768182, 28726808, 29802286, 31787751, 31976786, 32669374, 33229504, 34341011, 35171259, 35737913, 36409970, 36978154, 36999792, 38086003	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35445726	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18281473, 20122277, 20332121, 20582465, 21409391, 23302520, 24136930, 26315354, 26411315, 27631815, 28279176, 28423363, 29052111, 29361001, 31341520		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27978560, 29478780		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27978560, 29118424, 29478780, 35567913, 36243179, 36717525, 38326120	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	28135145, 37861889	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of colon	Congenital atresia of colon	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36744932	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27631815		★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36175305	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial pancreatic carcinoma	Pancreatic Carcinoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	BEFREE	17200668, 17200671, 17200672, 17292821, 17768402, 18258506, 19748364, 20582465, 20858716, 20871616, 21567085, 21618343, 21932393, 22383991, 22725699, 23038782, 23341105, 23657012, 24141787, 24870022, 24949998, 25016020, 26526077, 26990772, 27277787, 28858227, 30638972, 31017574		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	17200668, 17292821, 19268590, 20871616, 21932393, 22331464, 22383991, 23038782, 24141787, 26420486, 27277787, 31017574, 31586400, 32554798, 34549727, 34687993	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	17200671, 17200672		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	17200671, 17200672, 28297620		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	17200668, 17200671, 17200672, 17292821, 19748364, 20582465, 20858716, 20871616, 21567085, 21618343, 21932393, 22383991, 22725699, 23038782, 23341105, 23657012, 24141787, 25016020, 26526077, 27277787, 28858227, 30638972, 31017574		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP N	Fanconi Anemia	CLINGEN_DG	17200671, 17200672, 20484223, 22193777, 29376519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP N	Fanconi Anemia	GENOMICS_ENGLAND_DG	17200671, 17200672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP N	Fanconi Anemia	BEFREE	21567085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP N	Fanconi Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP N	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33328484	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	29625052		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	33854214	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32554798	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	28024868, 30640700	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29747023		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG	17200671, 19264984, 19609323, 19763884, 21165770, 21182766, 21285249, 21365267, 21409391, 21618343, 23448497, 23977390, 24206657, 24448499, 24556926, 24763289, 25099575, 26250988, 26315354, 26534844, 26681312, 26898890, 27067391, 27624329, 27783279, 28281021		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	19536649, 25263539, 25925845, 27757719, 30309218, 30521987		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	20122277, 20332121, 23300655, 23302520, 23935836, 23941127, 24141787, 24549055, 24591564, 25925845, 26976419, 27067391, 27757719, 27779110, 28279176, 28874143, 29052111, 29988077, 30306255, 30309218, 30927251, 31650731, 31841383, 32300229, 33113089, 33421217, 33646313, 34113003, 34299313, 34946951, 35451682, 35608067, 36307613, 37169825, 37563628, 37861889, 39684258, 40428378	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	ORPHANET_DG	23779253		★☆☆☆☆ Found in Text Mining only
Hereditary breast and ovarian cancer syndrome	Hereditary Breast And Ovarian Cancer Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary breast cancer	Hereditary Breast Cancer	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	29706558, 30507471		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	23471749, 25575445, 26526077, 28858227		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	21153565		★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	26075229, 26270727, 26440929, 30681994		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26689913, 32868804, 34687993, 38608356	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36175305	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32636238	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19011769		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	26075229, 26270727, 26440929, 30681994		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	17200671, 24870022		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29747023		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG	16793542, 17200668, 17200671, 17287723, 18053174, 18302019, 18446436, 18628482, 19264984, 19423707, 19584259, 19609323, 19863560, 20122277, 20153123, 20412113, 20852946, 20927582, 21165770, 21182766, 21184274, 21285249, 21365267, 21409391, 21618343, 21932393, 21947752, 22006311, 22241545, 23110154, 23302520, 23341105, 23448497, 23471749, 23824750, 23934222, 23977390, 24136930, 24206657, 24415441, 24448499, 24556621, 24556926, 24728327, 24763289, 24949998, 24998779, 25099575, 25186627, 25225577, 25337758, 25356972, 25428789, 25452441, 25525159, 25575445, 25794774, 25897114, 25980754, 26270727, 26283626, 26296701, 26315354, 26534844, 26641009, 26681312, 26689913, 26720728, 26757417, 26786923, 26898890, 26911350, 26976419, 27106063, 27153395, 27433846, 27631815, 27648926, 28194609, 28678401, 28724667, 28779002, 29263802, 29922827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17200668, 17287723, 17292821, 17420451, 17768402, 18053174, 18258506, 18281473, 18288683, 18302019, 18414782, 18446436, 18501021, 18544032, 18628482, 18794107, 19333784, 19383810, 19737859, 19763819, 19763884, 19863560, 19921424, 20046159, 20213081, 20412113, 20512659, 20582465, 20722467, 20844547, 20852946, 20858716, 20871615, 20872766, 21113654, 21165770, 21165771, 21182766, 21285249, 21336636, 21365267, 21409391, 21415078, 21461995, 21618343, 21932393, 21947752, 21989927, 22052327, 22166947, 22241545, 22383991, 22505525, 22692731, 22725699, 23021409, 23038782, 23300655, 23302520, 23341105, 23448497, 23471749, 23657012, 23747889, 23787919, 23824750, 23941127, 23977390, 24061862, 24136930, 24141787, 24153426, 24206657, 24415441, 24460267, 24556926, 24870022, 24949998, 25099575, 25447460, 25467110, 25529982, 25575445, 25636233, 25666743, 25794774, 25959805, 26283626, 26411315, 26489409, 26523341, 26526077, 26564480, 26573693, 26640152, 26757417, 26981788, 26985847, 27106063, 27277787, 27401444, 27469594, 27573125, 27595995, 27624329, 27648926, 27798748, 27902704, 27974172, 28085182, 28158555, 28194609, 28279176, 28319063, 28418444, 28419251, 28664506, 28796317, 28825143, 28837162, 28858227, 29052111, 29321957, 29338689, 29361001, 29426838, 29431189, 29484706, 29706558, 29802286, 30099541, 30128536, 30255452, 30289697, 30309218, 30458447, 30552643, 30720863, 30799775, 30933323, 31017574, 31054147, 31067289, 31089269, 31206626, 31446535, 31467304, 31580391, 31757951, 31768816, 31786208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GENOMICS_ENGLAND_DG	17200671, 17200672		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG	17287723, 22241545, 28319063		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	28825726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18281473, 20122277, 20332121, 20582465, 21409391, 23302520, 24136930, 24240112, 25666743, 26315354, 26411315, 27631815, 28279176, 28423363, 29052111, 29361001, 31341520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19264984, 19690177, 20412113, 20582465, 20858716, 20871615, 21135251, 21153565, 21285249, 21365267, 21415078, 21614589, 21989927, 22162228, 22166947, 22846737, 23657012, 23935836, 24870022, 25542327, 25666743, 26411315, 27038244, 27106063, 27757719, 28767289, 28858227, 30255452, 31619740, 31636395		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30681994, 30730411, 31409613		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31089269		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17200671, 20582465, 20858716, 20871616, 21135251, 21153565, 21182766, 21415078, 23302520, 23650262, 23787919, 24141787, 24153426, 24870022, 24949998, 25016020, 25099575, 25542327, 25575445, 26968956, 27595995, 27648926, 27974172, 28158555, 28319063, 28528518, 28858227, 29361001, 29430632, 29431189, 29484706, 29706558, 29739757, 30377213, 30521987, 30552643, 30638972, 30772928, 31017574, 31619740, 31636395, 31757951, 31768816		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	28825726		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16793542, 17200668, 17287723, 17420451, 18053174, 18281473, 18557994, 18628482, 18794107		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18281473, 23448497, 23657012, 23787919, 30552643, 31768816		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	28825726		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	28825726		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	29753700, 32056145, 32554798, 34687993	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21153565, 21614589, 24395243, 24949998, 29625052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	24949998, 26106605	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	30681994		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34113003	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	33854214	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16793542, 17287723, 18302019, 19383810, 20582465, 20871615, 20871616, 23302520, 23448497, 23650262, 23657012, 23787919, 24293293, 24870022, 24998779, 26075229, 26526077, 26981788, 27974172, 28158555, 28319063, 28709830, 29431189, 29872499, 30552643, 30638972, 31017574, 31067289		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	17200668, 17200671, 17200672, 17287723, 17420451, 18053174, 18302019, 18446436, 18628482, 19264984, 19383810, 19609323, 19763884, 20122277, 20412113, 20582465, 20852946, 20871615, 21165770, 21182766, 21184274, 21285249, 21365267, 21409391, 21618343, 21932393, 22006311, 22241545, 22310028, 22692731, 23110154, 23112754, 23302520, 23334666, 23341105, 23448497, 23471749, 23561644, 23824750, 23935381, 23935836, 23941127, 23977390, 24061862, 24136930, 24141787, 24240112, 24415441, 24448499, 24549055, 24556621, 24556926, 24728327, 24763289, 24870022, 25099575, 25186627, 25225577, 25330149, 25337756, 25337758, 25356972, 25428789, 25452441, 25525159, 25575445, 25619955, 25666743, 25794774, 25959805, 25980754, 26023681, 26270727, 26283626, 26315354, 26489409, 26534844, 26556299, 26564480, 26641009, 26681312, 26720728, 26757417, 26845104, 26898890, 26976419, 27099641, 27356891, 27433846, 27469594, 27553368, 27595995, 27624329, 27631815, 27783279, 27798748, 27878467, 28008555, 28024868, 28152038, 28158555, 28194609, 28240985, 28279176, 28453507, 28454591, 28709830, 28724667, 28779002, 28825143		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	23787919	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34687993	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine tumor of pancreas	Neuroendocrine Tumor Of Pancreas	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	22759592		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30472259		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Diseases	Ovarian diseases	Pubtator	23302520	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18281473, 20122277, 20332121, 20582465, 21409391, 23302520, 24136930, 26315354, 26411315, 27631815, 28279176, 28423363, 29052111, 29361001, 31341520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20122277, 21285249, 23302520, 24240112, 24448499, 26315354, 26718727, 26873923, 27757719, 28591191, 29052111, 31841383, 32546565, 32853479, 33560870, 33976419, 34672090, 34740923, 36307613, 36411032, 37169825, 38041901, 38326120, 40210464, 40428378	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37493628	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19264984, 19690177, 20412113, 20582465, 20858716, 21135251, 21153565, 21285249, 21365267, 21415078, 21614589, 21989927, 22162228, 22166947, 22846737, 23657012, 23935836, 24870022, 25542327, 25666743, 27038244, 28767289, 31636395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	19264984, 20412113, 20582465, 21365267, 22166947, 23561644, 23935836, 25356972, 25666743		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	ORPHANET_DG	20412113, 21365267		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	35171259	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22759592, 29802286		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	22116519, 24293293		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19264984, 19690177, 21285249, 21365267, 22162228, 22166947, 23561644, 23935836, 25076338, 25356972, 25479140, 26098869, 26440929, 27197284, 27488870, 27732944, 28767289, 29223478, 29506128, 29961768, 30883245, 31787751, 31841383, 31856090, 32354656, 32554798, 33169439, 33976419, 34034685, 34341011, 34620795, 35171259, 35779338, 36175305, 36717525, 39256447	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	35171259	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	28837162		★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	26968956		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	32609350, 33606809, 37024097, 37169825, 40288678	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	34793666	Stimulate	★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	18288683		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30681994, 30730411, 31409613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17287723, 18288683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18288683, 20003494, 27595995, 30833416, 31629422, 32234758, 32853339, 34006922, 34388386, 35054852, 35534218, 35606411, 35666082, 35820087, 35986085, 36446039, 37415201, 38014910, 38452035	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	29223478	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37536918	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	20872766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	21932393, 26526077, 28825143		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31089269		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26182300, 26689913, 28024868, 29706558, 36484990	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38165228	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23110154, 25452441, 26489409, 26577449, 29522266, 32339256, 34113003, 34292776, 36315097	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23824750, 29988077, 31768816		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28085182	Stimulate	★☆☆☆☆ Found in Text Mining only
TUMOR PREDISPOSITION SYNDROME	TUMOR PREDISPOSITION SYNDROME	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ureter duplex	Ureter Duplex	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38326120	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34151839	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33403473	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	34687993	Associate	★☆☆☆☆ Found in Text Mining only