TSC2 (TSC complex subunit 2)

Gene

• Entrez ID: 7249
• Gene name: TSC complex subunit 2
• Gene symbol: TSC2
• Synonyms (NCBI Gene): LAM, PPP1R160, TSC4
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for ham

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934872	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs35282988	G>A	Benign, likely-benign, not-provided, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs35660529	C>T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs45437193	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45438205	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs45438400	G>A,C,T	Pathogenic, not-provided	Splice donor variant
rs45443096	G>A,C,T	Pathogenic, not-provided	Splice acceptor variant
rs45443205	C>T	Benign, not-provided, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs45445199	G>A,T	Pathogenic, not-provided	Splice donor variant
rs45445593	G>A	Not-provided, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs45448101	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45451199	G>A,T	Pathogenic, not-provided	Splice acceptor variant
rs45451497	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45455296	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45460895	G>A	Pathogenic	Splice donor variant, intron variant
rs45462194	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45464800	C>A,G,T	Benign, pathogenic, not-provided, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs45465195	C>G,T	Uncertain-significance, not-provided, pathogenic	Stop gained, missense variant, coding sequence variant
rs45466296	G>A	Pathogenic, not-provided	Splice donor variant
rs45467993	C>A,G,T	Benign, pathogenic, not-provided, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs45468292	G>A,C	Pathogenic, not-provided, likely-pathogenic	Splice acceptor variant
rs45469099	C>T	Pathogenic, not-provided	5 prime UTR variant, stop gained, coding sequence variant
rs45469298	C>A,G,T	Pathogenic, not-provided, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs45469392	G>A,T	Benign, pathogenic, not-provided, likely-benign	Stop gained, missense variant, coding sequence variant
rs45469896	C>T	Pathogenic, not-provided	5 prime UTR variant, stop gained, coding sequence variant
rs45471596	C>A,T	Not-provided, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs45473098	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Missense variant, coding sequence variant
rs45474691	T>A,C,G	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45475793	G>A,C	Pathogenic, not-provided	Splice donor variant
rs45477491	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs45478892	C>A,G	Conflicting-interpretations-of-pathogenicity, benign, not-provided, likely-benign, benign-likely-benign, uncertain-significance	5 prime UTR variant, synonymous variant, missense variant, coding sequence variant
rs45479192	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45481199	T>C,G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45481704	G>A,C,T	Pathogenic, not-provided	Splice acceptor variant
rs45483391	G>A,T	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs45483392	C>A,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45485395	G>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs45485591	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs45486193	C>T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Synonymous variant, coding sequence variant
rs45486196	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45486591	C>A,G,T	Uncertain-significance, likely-benign, not-provided, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs45487291	A>C,G	Pathogenic, not-provided	Splice acceptor variant
rs45488500	G>T	Pathogenic	Splice donor variant, intron variant
rs45488893	G>A	Pathogenic, not-provided	Splice donor variant
rs45491698	G>A,C	Uncertain-significance, not-provided, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs45492397	G>A	Conflicting-interpretations-of-pathogenicity, not-provided, benign-likely-benign, likely-benign	Synonymous variant, coding sequence variant
rs45493394	T>A,G	Pathogenic, not-provided	5 prime UTR variant, stop gained, coding sequence variant
rs45498496	C>A,T	Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, stop gained, coding sequence variant
rs45501091	A>G	Drug-response, not-provided	Missense variant, coding sequence variant
rs45501492	G>A,T	Pathogenic, not-provided	Intron variant
rs45502196	A>C,G	Pathogenic, not-provided	Splice acceptor variant
rs45502703	G>A,C,T	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs45505405	A>G,T	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs45506396	G>A,C	Pathogenic, not-provided, likely-pathogenic	Splice acceptor variant
rs45506401	G>A	Pathogenic, not-provided	Splice donor variant
rs45509500	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided, likely-benign	Synonymous variant, coding sequence variant
rs45509697	T>C,G	Pathogenic, not-provided, likely-pathogenic	Splice donor variant
rs45509791	A>G,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45514095	G>A	Pathogenic, not-provided	Splice donor variant
rs45515894	G>A	Pathogenic, not-provided	5 prime UTR variant, stop gained, coding sequence variant
rs45516293	A>C,G	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs45517096	A>G	Pathogenic, not-provided	Intron variant, splice acceptor variant
rs45517099	C>T	Pathogenic, not-provided	5 prime UTR variant, intron variant, stop gained, coding sequence variant
rs45517100	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, intron variant, coding sequence variant
rs45517102	G>A,C	Pathogenic, not-provided	Splice donor variant, intron variant
rs45517105	G>A,T	Pathogenic, not-provided	Intron variant, splice acceptor variant
rs45517109	C>G,T	Not-provided, likely-pathogenic	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs45517111	C>T	Pathogenic, not-provided	5 prime UTR variant, intron variant, stop gained, coding sequence variant
rs45517115	C>T	Pathogenic	5 prime UTR variant, intron variant, stop gained, coding sequence variant
rs45517117	G>A	Pathogenic, not-provided	Splice acceptor variant
rs45517118	G>A,C,T	Uncertain-significance, not-provided, pathogenic	5 prime UTR variant, stop gained, missense variant, coding sequence variant
rs45517119	C>G,T	Uncertain-significance, not-provided, pathogenic	5 prime UTR variant, stop gained, missense variant, coding sequence variant
rs45517125	C>A,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	5 prime UTR variant, synonymous variant, stop gained, coding sequence variant
rs45517128	G>A,C,T	Pathogenic, not-provided	Splice donor variant
rs45517131	T>C	Not-provided, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs45517132	C>A,T	Pathogenic, not-provided	Intron variant
rs45517143	C>A,G	Pathogenic, not-provided	5 prime UTR variant, stop gained, coding sequence variant
rs45517148	G>A,C,T	Pathogenic, uncertain-significance, not-provided, likely-benign	5 prime UTR variant, stop gained, missense variant, coding sequence variant
rs45517150	G>A	Pathogenic, not-provided	Intron variant
rs45517155	G>A	Likely-benign, not-provided, benign-likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs45517158	C>T	Pathogenic, not-provided	5 prime UTR variant, stop gained, coding sequence variant
rs45517159	C>T	Pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant
rs45517169	C>T	Pathogenic	Stop gained, coding sequence variant
rs45517174	A>G	Pathogenic, not-provided	Splice acceptor variant
rs45517179	C>G,T	Uncertain-significance, not-provided, pathogenic	Stop gained, missense variant, coding sequence variant
rs45517182	G>A,T	Pathogenic, not-provided	Splice donor variant
rs45517183	T>C	Pathogenic, not-provided	Splice donor variant
rs45517199	C>G,T	Benign, pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs45517201	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs45517208	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs45517212	G>A	Pathogenic, not-provided	Splice acceptor variant
rs45517213	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517214	T>A,G	Uncertain-significance, not-provided, pathogenic	Missense variant, coding sequence variant
rs45517216	C>G,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs45517218	G>A,C	Pathogenic, not-provided	Splice acceptor variant
rs45517222	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517225	C>A,T	Pathogenic, not-provided	Stop gained, synonymous variant, coding sequence variant
rs45517226	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517227	G>A	Pathogenic, not-provided	Splice donor variant
rs45517228	T>C,G	Pathogenic, not-provided	Splice donor variant
rs45517229	A>C	Pathogenic, not-provided	Splice acceptor variant
rs45517238	C>A,G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, benign-likely-benign, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs45517239	T>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45517246	A>G,T	Pathogenic, not-provided	Splice acceptor variant
rs45517247	C>G,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Intron variant
rs45517248	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs45517249	C>T	Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45517252	G>A,C	Pathogenic, not-provided	Splice donor variant
rs45517255	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs45517258	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs45517259	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs45517263	G>A,C	Pathogenic, not-provided	Splice acceptor variant
rs45517270	G>C,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs45517284	T>C	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Missense variant, coding sequence variant
rs45517289	G>A,C,T	Pathogenic, other, not-provided, likely-pathogenic	Splice donor variant
rs45517297	C>G,T	Uncertain-significance, not-provided, pathogenic	Stop gained, missense variant, coding sequence variant
rs45517299	G>A,C	Pathogenic, not-provided	Splice donor variant
rs45517301	G>A	Not-provided, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs45517305	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs45517306	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517308	C>A,G,T	Pathogenic, not-provided, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs45517319	G>A	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs45517324	G>A,T	Pathogenic, not-provided	Splice donor variant
rs45517327	G>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517328	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs45517330	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517337	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517338	C>A,G	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45517339	C>A,G,T	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs45517340	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517343	G>A,C	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45517346	G>A,C	Not-provided, likely-pathogenic	Splice acceptor variant
rs45517348	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517352	C>A,G,T	Uncertain-significance, not-provided, pathogenic	Stop gained, missense variant, coding sequence variant
rs45517355	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45517358	G>A,C,T	Pathogenic, not-provided	Splice acceptor variant
rs45517362	T>C	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45517371	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517375	G>A	Not-provided, likely-pathogenic	Splice donor variant
rs45517379	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs45517382	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs45517386	G>A,C,T	Pathogenic, not-provided	Splice donor variant
rs45517388	C>G,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs45517391	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs45517392	G>A	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Missense variant, coding sequence variant
rs45517393	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs45517395	G>A,C	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs45517396	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs45517398	T>C,G	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs45517399	G>A,C,T	Pathogenic, not-provided	Splice donor variant, missense variant, coding sequence variant
rs45517403	A>C,G	Pathogenic, not-provided	Intron variant, missense variant, coding sequence variant
rs62642481	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs74363455	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs121964862	C>G,T	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs137853977	AT>-	Not-provided, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs137853982	->G	Not-provided, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs137853983	CCT>-	Likely-pathogenic, not-provided	5 prime UTR variant, inframe deletion, coding sequence variant
rs137853988	G>-,GG	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137853993	GTCT>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137853995	T>C	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs137854001	C>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854015	->A	Not-provided, pathogenic	Coding sequence variant, stop gained
rs137854018	CA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854020	->C	Not-provided, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs137854023	->A	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854028	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854036	TG>-	Not-provided, pathogenic	Intron variant, coding sequence variant, splice donor variant, frameshift variant
rs137854046	->G	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854050	CACC>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854052	->C	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs137854065	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Missense variant, coding sequence variant, stop gained
rs137854071	C>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854074	C>A,T	Uncertain-significance, likely-benign, not-provided, pathogenic	Missense variant, coding sequence variant, stop gained
rs137854076	TG>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854083	C>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854084	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Synonymous variant, coding sequence variant
rs137854101	T>C	Not-provided, pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs137854106	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs137854121	C>-,CC	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854122	TT>-	Not-provided, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs137854128	TCA>-	Likely-pathogenic, not-provided	Inframe deletion, coding sequence variant
rs137854132	TCAG>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854141	TT>-,T,TTT	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854144	AG>-,AGAG	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854146	AAG>-	Not-provided, pathogenic	Inframe deletion, coding sequence variant
rs137854155	C>T	Conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, missense variant
rs137854156	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854168	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Coding sequence variant, missense variant
rs137854175	ACAA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854189	->T,TT	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854200	G>A,T	Not-provided, pathogenic	Splice donor variant
rs137854210	->T	Not-provided, pathogenic	Coding sequence variant, stop gained
rs137854223	C>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854239	CTT>-	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Inframe deletion, coding sequence variant
rs137854250	TAGG>-	Not-provided, pathogenic	Intron variant, coding sequence variant, splice donor variant
rs137854253	C>T	Not-provided, pathogenic	Coding sequence variant, stop gained
rs137854254	T>A,C,G	Likely-pathogenic, not-provided	Splice donor variant
rs137854261	AAG>-	Not-provided, pathogenic	Inframe deletion, coding sequence variant
rs137854273	G>-,GG	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854298	T>G	Conflicting-interpretations-of-pathogenicity, not-provided	5 prime UTR variant, coding sequence variant, missense variant
rs137854302	GGG>-,GG,GGGG	Pathogenic, uncertain-significance, not-provided	Inframe deletion, coding sequence variant, frameshift variant
rs137854306	G>A,C	Not-provided, pathogenic	Intron variant, splice acceptor variant
rs137854307	AG>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854312	->A	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854314	G>-	Not-provided, pathogenic	Coding sequence variant, splice acceptor variant
rs137854329	->T	Pathogenic	Coding sequence variant, stop gained
rs137854331	CAT>-	Not-provided, pathogenic	Inframe deletion, coding sequence variant
rs137854336	C>-	Likely-pathogenic, not-provided	Coding sequence variant, frameshift variant
rs137854337	->TACT	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854345	T>C	Likely-pathogenic, not-provided	5 prime UTR variant, coding sequence variant, missense variant
rs137854359	->A	Not-provided, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, stop gained
rs137854361	G>A,T	Not-provided, pathogenic	Splice donor variant
rs137854363	CT>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854368	TG>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854371	AT>-	Not-provided, pathogenic	Coding sequence variant, stop gained
rs137854380	A>G,T	Not-provided, pathogenic	Splice acceptor variant
rs137854406	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Synonymous variant, intron variant, coding sequence variant, missense variant, 5 prime UTR variant
rs137854427	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854877	G>A,C	Likely-pathogenic, not-provided	Synonymous variant, coding sequence variant, missense variant
rs137854882	G>A,C,T	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs139929314	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, coding sequence variant, missense variant
rs140618379	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, coding sequence variant, initiator codon variant, missense variant
rs141631268	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142257684	C>A,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Coding sequence variant, missense variant
rs142848358	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145470784	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, 5 prime UTR variant, missense variant
rs147719291	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Coding sequence variant, missense variant
rs150195368	C>T	Not-provided, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs150558493	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150999168	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs199943270	C>A,G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199991910	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant, 5 prime UTR variant
rs200346578	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201144475	C>G,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs201599540	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201670791	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs201710642	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201979616	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202068995	G>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs367553206	C>G,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs367963898	A>G	Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs368710573	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs368712041	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370404391	G>A,C	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs370553131	G>A,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372007135	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs372463702	C>A,G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs372681603	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373818076	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs374936223	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs375824753	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs375883030	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs376285784	G>A	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs377123510	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs397514913	G>A	Not-provided, pathogenic	Coding sequence variant, stop gained
rs397514914	C>T	Not-provided, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs397514919	T>C,G	Not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397514939	C>-,CC	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs397514976	->GAGCAAGTCCAGCTCCT	Not-provided, pathogenic	Coding sequence variant, stop gained
rs397514978	C>T	Not-provided, pathogenic	Coding sequence variant, stop gained
rs397514979	G>A	Not-provided, pathogenic	Coding sequence variant, stop gained
rs397514994	G>A,C,T	Not-provided, pathogenic	Splice donor variant
rs397515009	->AGCAAGTCCAGCTCCTC	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs397515023	A>-,AA	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs397515035	G>A,T	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397515036	T>A,C,G	Not-provided, pathogenic	Splice donor variant
rs397515059	C>G,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Intron variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs397515066	G>A,C	Not-provided, pathogenic	Splice donor variant
rs397515067	T>A,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs397515073	AC>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs397515077	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs397515082	GA>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs397515087	C>A,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant, stop gained
rs397515100	G>A	Not-provided, likely-pathogenic, uncertain-significance	Intron variant
rs397515152	T>C,G	Not-provided, pathogenic	Splice donor variant
rs397515159	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs397515166	C>-,CC,CCC	Not-provided, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs397515169	A>G,T	Not-provided, likely-pathogenic	Splice acceptor variant
rs397515170	T>C	Not-provided, pathogenic	Splice donor variant, coding sequence variant, missense variant
rs397515173	G>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs397515177	A>G,T	Drug-response, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs397515203	G>A	Not-provided, pathogenic	Splice acceptor variant
rs397515206	T>C	Not-provided, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs397515207	T>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs397515209	C>T	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs397515220	C>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs397515225	G>A,C	Not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397515241	G>A	Not-provided, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs397515247	T>A,C	Not-provided, pathogenic	Splice donor variant
rs397515257	G>T	Not-provided, pathogenic	Splice donor variant
rs397515296	C>A,G,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs397515297	G>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant, stop gained
rs397515319	C>G,T	Benign-likely-benign, not-provided, likely-pathogenic, likely-benign	Intron variant
rs547389841	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs551938797	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs560831385	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs745414854	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs745895675	G>A	Uncertain-significance, likely-benign, pathogenic	Missense variant, coding sequence variant
rs746246149	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs747237113	G>A	Likely-benign, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs747310967	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs747827911	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs750806272	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs751172150	A>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs751203255	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs751305758	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs753179817	T>C,G	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs753764275	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs754343186	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs754951889	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs757221445	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs758521946	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, 5 prime UTR variant, intron variant
rs759837836	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs761704292	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, intron variant, missense variant
rs762228318	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, 5 prime UTR variant, intron variant
rs764225717	A>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs764725850	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765336852	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs765990217	C>A,T	Benign, likely-pathogenic	Intron variant
rs766200310	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs766442736	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs766771526	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs767252128	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs767770242	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs768241596	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs769094940	CTCT>-,CT	Pathogenic, likely-benign	Intron variant
rs770054036	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs772687631	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs772834557	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773920155	G>A,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs775604492	C>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs776738338	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs777592623	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs777985056	G>A	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs778069675	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778352969	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs780057014	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs780682938	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs781186613	C>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs781713438	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794727093	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs794727573	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs794727602	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs794727906	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs796053483	C>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs796053484	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs796053485	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs796053492	G>A,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, missense variant
rs796053493	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796053496	G>A	Pathogenic	Coding sequence variant, stop gained
rs796053503	TGGTGGACCTGGCAGAGGGCTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053504	->C	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, frameshift variant
rs796053505	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs796053506	->C	Pathogenic	Coding sequence variant, frameshift variant
rs796053509	G>A	Pathogenic	Coding sequence variant, stop gained
rs796053516	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053517	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053518	TCCAGCTGCCAAG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs796053520	TGAGG>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs876658878	AG>-	Pathogenic	5 prime UTR variant, frameshift variant, intron variant, coding sequence variant
rs878854075	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs878854082	TCTGCAGCGTGGAGATGCCTGACATCATCATCA>C	Pathogenic	Frameshift variant, coding sequence variant
rs878854115	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039446	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs886039680	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039736	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886041563	ACTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041573	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886041643	AAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041758	T>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886041772	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041789	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041905	TTCGT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs886041919	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041922	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886042032	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042145	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs886043268	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1057518201	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518230	G>A	Pathogenic	Splice donor variant
rs1057518448	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518508	T>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1057520759	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057521562	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant
rs1057522800	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057522911	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057523452	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057523509	T>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1057523727	G>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1060499647	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060500914	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060500924	G>T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1060500931	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060500934	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060500938	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060500950	AATGACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060500970	C>G,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant
rs1060500972	G>A,T	Likely-pathogenic	Splice donor variant
rs1064793464	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793524	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793573	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1064793646	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793797	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1064795156	GCCAGATGGCCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064796511	C>T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1064796970	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1085307591	GAACGGCTCCTTCAGCAGCTC>-	Likely-pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant
rs1085307762	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1085307853	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1114167459	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167460	CA>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs1114167461	->GATACGTC	Pathogenic	Frameshift variant, coding sequence variant
rs1114167462	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1114167463	->AC	Pathogenic	Frameshift variant, coding sequence variant
rs1114167465	G>A,T	Uncertain-significance, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs1114167466	A>G	Pathogenic	Splice acceptor variant
rs1131691419	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691602	A>T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131691794	G>A	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131691965	G>C	Likely-pathogenic	Intron variant
rs1173061992	G>A,T	Pathogenic, uncertain-significance	5 prime UTR variant, stop gained, coding sequence variant, missense variant, intron variant
rs1189784704	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1202939879	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1219556604	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1285012780	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1441428144	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1555438624	GTCCATTGT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555439650	G>A	Pathogenic	Splice acceptor variant
rs1555439753	->GGACT	Pathogenic	Frameshift variant, coding sequence variant
rs1555439847	GA>TT	Pathogenic	Stop gained, coding sequence variant
rs1555440022	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555495676	G>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555497641	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant, stop gained
rs1555497690	C>A	Likely-pathogenic	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1555497714	G>T	Pathogenic	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs1555498221	->A	Pathogenic	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs1555499119	T>G	Pathogenic	Splice donor variant
rs1555500535	->T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555501373	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555502518	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555502530	AC>-,ACAC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555503131	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555505103	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555505208	G>C	Pathogenic	Missense variant, coding sequence variant
rs1555505211	T>C	Pathogenic	Splice donor variant
rs1555505742	AGGC>TTTTGA	Pathogenic	Coding sequence variant, splice acceptor variant
rs1555505954	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555506201	TGCT>CG	Pathogenic	Frameshift variant, coding sequence variant
rs1555506395	CT>-	Pathogenic	Stop gained, coding sequence variant
rs1555506428	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555507462	CG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1555507504	CTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555507612	GT>C	Pathogenic	Frameshift variant, coding sequence variant
rs1555507623	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555508917	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs1555508929	TT>-	Likely-pathogenic, other	Frameshift variant, coding sequence variant
rs1555508938	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555510519	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555510579	->AACC	Pathogenic	Frameshift variant, coding sequence variant
rs1555511352	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1555511585	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555511663	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs1555512330	ACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGG>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1555512486	GT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555512497	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555512548	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555514034	->TCGCAGCCCCTGAGCAAGTCCAGCTC	Pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1555514063	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555514179	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555514354	CTC>TT	Pathogenic	Frameshift variant, coding sequence variant
rs1555514548	CTTA>TTT	Pathogenic	Frameshift variant, coding sequence variant
rs1555514984	T>A,G	Likely-pathogenic	Splice donor variant
rs1567128655	AGGTAGGGCC>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1567386603	G>A	Pathogenic	Splice acceptor variant
rs1567387207	G>A	Likely-pathogenic	Splice donor variant
rs1567394860	G>A	Pathogenic	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs1567395826	A>-	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1567398983	T>-	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1567408314	->A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1567409292	T>-,TTT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567428094	CC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567437155	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567437492	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567457100	->CACGC	Pathogenic	Coding sequence variant, frameshift variant
rs1567458244	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567489890	G>A	Likely-pathogenic, pathogenic	Intron variant
rs1567490680	->T	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1567496821	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1567498041	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567504592	CT>TA	Pathogenic	Coding sequence variant, stop gained
rs1567521369	GGCCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567524236	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1567524949	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567526941	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567533189	AAGGACTGCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567533467	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596259720	AGGTAAGGCCCAGGGC>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant, 5 prime UTR variant
rs1596270787	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1596275494	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1596278377	T>C	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1596288988	TC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1596298137	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1596298721	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1596303814	TG>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant, 5 prime UTR variant
rs1596307300	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1596335963	A>C	Pathogenic	Splice acceptor variant
rs1596336436	CT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1596343922	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1596344279	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596350476	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596350698	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1596356248	G>T	Pathogenic	Coding sequence variant, stop gained
rs1596356898	C>G	Pathogenic	Coding sequence variant, stop gained
rs1596369682	A>T	Pathogenic	Coding sequence variant, stop gained
rs1596382055	G>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1596382268	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1596382441	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596384304	T>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1596389437	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596389562	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596400038	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596417662	->TTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1596439426	->CAGTTCACCTACTGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1596439555	GCACGATG>-	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1596455074	->TCACCCCGCTGGACTACGAGTGCAA	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050917	hsa-miR-17-5p	CLASH	23622248
MIRT038502	hsa-miR-296-3p	CLASH	23622248
MIRT037646	hsa-miR-744-5p	CLASH	23622248
MIRT1458129	hsa-miR-4436a	CLIP-seq
MIRT1458130	hsa-miR-615-5p	CLIP-seq
MIRT1458129	hsa-miR-4436a	CLIP-seq
MIRT1458130	hsa-miR-615-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Repression	21036700

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	ISS
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	9045618, 12842888, 12906785, 22819219, 24529379, 33436626
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	9580671, 9809973, 10585443, 12176984, 12364343, 12582162, 15161933, 16636147, 17693255, 18381890, 18692468, 19389623, 20169078, 20169165, 20412061, 20618440, 21134130, 21653829, 24255178, 25263562, 27451907, 28561026, 33436626, 33473107, 33961781, 35271311, 36931259
GO:0005634	Component	Nucleus	IDA	16636147
GO:0005634	Component	Nucleus	IDA	17114346
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	17114346
GO:0005737	Component	Cytoplasm	IDA	9580671, 16636147
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	25936802
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	24529379
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	10585443
GO:0005794	Component	Golgi apparatus	IDA	8806680
GO:0005829	Component	Cytosol	IDA	10585443, 24529379
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006606	Process	Protein import into nucleus	ISS
GO:0006897	Process	Endocytosis	TAS	9045618
GO:0007507	Process	Heart development	ISS
GO:0008104	Process	Intracellular protein localization	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0009267	Process	Cellular response to starvation	IDA	24529379
GO:0014069	Component	Postsynaptic density	EXP	27898073
GO:0014069	Component	Postsynaptic density	IDA	27898073
GO:0016020	Component	Membrane	IDA	16636147
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	TAS	9045618
GO:0016239	Process	Positive regulation of macroautophagy	IGI	23778976
GO:0016241	Process	Regulation of macroautophagy	IEA
GO:0019902	Function	Phosphatase binding	IDA	19389623
GO:0030100	Process	Regulation of endocytosis	ISS
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IBA
GO:0031267	Function	Small GTPase binding	IPI	25936802
GO:0031669	Process	Cellular response to nutrient levels	IDA	29236692, 29750193
GO:0032007	Process	Negative regulation of TOR signaling	IBA
GO:0032007	Process	Negative regulation of TOR signaling	IDA	22795129
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IGI	23778976
GO:0033596	Component	TSC1-TSC2 complex	IBA
GO:0033596	Component	TSC1-TSC2 complex	IDA	9580671, 12172553, 12842888, 12906785, 24529379, 33436626
GO:0033596	Component	TSC1-TSC2 complex	IEA
GO:0033596	Component	TSC1-TSC2 complex	IPI	22795129
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193
GO:0042803	Function	Protein homodimerization activity	IPI	10585443
GO:0043276	Process	Anoikis	IGI	23778976
GO:0045202	Component	Synapse	IEA
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0046626	Process	Regulation of insulin receptor signaling pathway	ISS
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	8806680
GO:0050918	Process	Positive chemotaxis	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051726	Process	Regulation of cell cycle	IBA
GO:0051879	Function	Hsp90 protein binding	IPI	29127155
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:1901525	Process	Negative regulation of mitophagy	NAS	26735435
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	9045618, 12172553, 12842888, 12906785, 22819219, 24529379, 33436626
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	12172553, 29236692

Other IDs

• MIM: 191092
• HGNC: 12363
• e!Ensembl: ENSG00000103197

Protein

• UniProt ID: P49815
• Protein name: Tuberin (Tuberous sclerosis 2 protein)
• Protein function: Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosyn
• PDB: 7DL2, 9CE3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11864	DUF3384	54 → 470	Domain of unknown function (DUF3384)	Family
  PF03542	Tuberin	555 → 903	Tuberin	Family
  PF02145	Rap_GAP	1561 → 1749	Rap/ran-GAP	Family

• Tissue specificity: TISSUE SPECIFICITY: Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta. {ECO:0000269|PubMed:8269512}.
• Sequence:

  MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRM
  IGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLR
  ALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVL
  VNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFI
  VTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVG
  MALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDI
  LLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPE
  SSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFY
  EEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLS
  PPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKH
  SYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTS
  GPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYK
  VLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYL
  DKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMA
  VPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRC
  RLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNS
  PPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHL
  ELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSL
  LGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVG
  ALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVR
  RPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAAST
  AKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDV
  EAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQ
  PLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQ
  PEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFV
  FLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELA
  ILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFH
  IATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYEC
  NLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKW
  IARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSV
  EDFTEFV

• Sequence length: 1807

Pathways

KEGG:

Phospholipase D signaling pathway
p53 signaling pathway
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Cellular senescence
Thermogenesis
Insulin signaling pathway
Thyroid hormone signaling pathway
Human cytomegalovirus infection
Human papillomavirus infection
Herpes simplex virus 1 infection
Choline metabolism in cancer

Reactome:

Macroautophagy
Inhibition of TSC complex formation by PKB
AKT phosphorylates targets in the cytosol
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
Constitutive Signaling by AKT1 E17K in Cancer
TBC/RABGAPs

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal cerebral morphology	Likely pathogenic; Pathogenic	rs137854027	RCV002274905
Abnormality of the nervous system	Pathogenic	rs2151317705	RCV001814392
Autism spectrum disorder	Pathogenic	rs1567533189	RCV000754676
Bone osteosarcoma	Likely pathogenic; Pathogenic	rs1555508929	RCV000505584
Cervical cancer	Pathogenic	rs397515033	RCV005890369
Clear cell carcinoma of kidney	Pathogenic	rs45517299	RCV005896827
Cortical tubers	Likely pathogenic; Pathogenic	rs45488500, rs1567489890	RCV001391263 RCV001003985
Dental enamel pits	Pathogenic	rs45517403	RCV000415445
Everolimus response	Likely pathogenic	rs397515177	RCV000590930
Focal cortical dysplasia	Likely pathogenic; Pathogenic	rs45488500	RCV001391263
Hamartoma	Pathogenic	rs45517403	RCV000415445
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2151299256, rs45517271, rs2151110209, rs1229561585, rs2151165414, rs2548472327, rs2544036138, rs2544273100, rs2544046016, rs2544164322, rs1414372155, rs45517282, rs2544273997, rs2151569037, rs45484992, rs2544401818, rs2544478263, rs137853981, rs137854089, rs2544308812, rs1567528487, rs2544381008, rs45476793, rs2091055727, rs2548461942, rs1555499119, rs2543623129, rs2543625009, rs45517192, rs2151277529, rs2543629219, rs2548521862, rs2548554921, rs2548372234, rs2543673068, rs2088578781, rs2543892190, rs2543677759, rs2548396109, rs2543909493, rs2150997192, rs2543912026, rs2544032026, rs2548536357, rs796053505, rs876658878, rs2548434695, rs2548474408, rs45483392, rs45517179, rs28934872, rs45516293, rs137854218, rs45517259, rs45517258, rs2544258529, rs2543892551, rs2151078845, rs2543709038, rs1064796511, rs1114167465, rs1114167462, rs1114167466, rs1114167463, rs1114167461, rs1114167459, rs45469392, rs1114167460, rs1114167468, rs397515152, rs1555505103, rs1555512497, rs1555506395, rs794727602, rs1567489890, rs769094940, rs137854360, rs45517169, rs45517177, rs45481704, rs137854232, rs45438592, rs137854076, rs45517105, rs45451497, rs137853982, rs137854307, rs45517348, rs137854175, rs137854146, rs45446901, rs45517382, rs45460895, rs45506396, rs45517399, rs45517369, rs45517412, rs45497997, rs137854028, rs137854393, rs45517263, rs137854001, rs137854155, rs137854128, rs137854247, rs137854371, rs45469298, rs45517182, rs45517183, rs45457701, rs137854082, rs45517228, rs45517212, rs45501596, rs45517213, rs45517099, rs45438205, rs137854162, rs45517360, rs45437193, rs45517375, rs45517293, rs137854261, rs45517132, rs45517395, rs45472701, rs45507199, rs137854343, rs45445199, rs45517362, rs137854302, rs1555510754, rs45517248, rs137854203, rs45486196, rs45517216, rs45517222, rs45517190, rs45517232, rs45509791, rs45517207, rs1596298721, rs397515297, rs397514914, rs397514919, rs397514939, rs397515097, rs397515195, rs397515274, rs1596336374, rs2089803859, rs2090620654	RCV005286454 RCV005513040 RCV002384548 RCV002420865 RCV002386688 RCV002409634 RCV002326012 RCV002329963 RCV002322543 RCV002355269 RCV002332286 RCV002320609 RCV002330059 RCV002335117 RCV002357893 RCV002340569 RCV002336038 RCV002336047 RCV002362022 RCV002340226 RCV002342252 RCV002338045 RCV002335678 RCV002335686 RCV002365083 RCV002447638 RCV002401406 RCV002401588 RCV002398976 RCV002398977 RCV002407767 RCV002404235 RCV002394285 RCV002398681 RCV002413043 RCV002432897 RCV002428576 RCV002410525 RCV002443725 RCV002429015 RCV002425846 RCV002437492 RCV002444170 RCV002438137 RCV004948204 RCV000219250 RCV003297046 RCV003297066 RCV002345240 RCV002390103 RCV000491426 RCV002316192 RCV000491359 RCV000221069 RCV002426499 RCV003382430 RCV004950453 RCV004950555 RCV004518818 RCV002323840 RCV000491270 RCV000491025 RCV000491358 RCV000491491 RCV000491500 RCV000490848 RCV000491994 RCV000491854 RCV000491033 RCV002350148 RCV002404478 RCV004686592 RCV000561852 RCV002334225 RCV002440452 RCV002406657 RCV004678603 RCV004943735 RCV003162356 RCV002444496 RCV002426586 RCV002433525 RCV002321535 RCV002453337 RCV000491678 RCV002453338 RCV000491261 RCV003380406 RCV002336156 RCV002336157 RCV005502749 RCV002336159 RCV003298086 RCV005502750 RCV002444497 RCV005502752 RCV003162357 RCV000491169 RCV002326760 RCV000491824 RCV002453339 RCV002433526 RCV005286018 RCV002433527 RCV006287154 RCV002426587 RCV002399400 RCV000491813 RCV000490888 RCV000491391 RCV005251050 RCV005512703 RCV006287155 RCV005286019 RCV002415491 RCV005251051 RCV000491603 RCV002453340 RCV002453341 RCV003162358 RCV002326762 RCV002336161 RCV002453342 RCV005761956 RCV002444498 RCV000129852 RCV002336162 RCV002336163 RCV002345329 RCV005502754 RCV002336165 RCV002321536 RCV002321537 RCV000491444 RCV002326765 RCV000490930 RCV002426589 RCV002444499 RCV002399402 RCV002453343 RCV004948152 RCV004678604 RCV002458470 RCV000491130 RCV000574001 RCV000491308 RCV005298443 RCV002371895 RCV005761960 RCV002345361 RCV006287324 RCV002409428 RCV004031775 RCV005502975 RCV006287328
Infantile spasms	Pathogenic	rs45514095	RCV000415345
Intellectual disability	Likely pathogenic; Pathogenic	rs137854128	RCV001260837
Isolated focal cortical dysplasia type II	Likely pathogenic; Pathogenic	rs2151631825, rs397515125, rs2090622255, rs137854380, rs886041563, rs45483392, rs45517179, rs28934872, rs45516293, rs45517259, rs45517258, rs2544263148, rs137853990, rs1060499676, rs1114167462, rs1131691965, rs1060500972, rs137854360, rs45517169, rs45465195, rs45506401, rs137854208, rs45451497, rs45517348, rs137854397, rs137854236, rs45517150, rs45517399, rs45471896, rs45517412, rs45469298, rs45517225, rs45438205, rs45517329, rs45517395, rs45517404, rs45507199, rs137853993, rs45477491, rs45517222, rs45481400, rs1567387207, rs1567437155, rs397514897, rs397514939, rs397515087, rs45517289, rs397515246	RCV002497929 RCV004796715 RCV003224752 RCV002487175 RCV004796147 RCV002496339 RCV000768350 RCV000768118 RCV003460465 RCV002482858 RCV001536008 RCV003466463 RCV003464719 RCV002502593 RCV005018825 RCV000763366 RCV004568661 RCV004795962 RCV004795963 RCV002483039 RCV004795964 RCV002490589 RCV002483040 RCV002477138 RCV005007963 RCV005016329 RCV002483043 RCV002496673 RCV003224798 RCV000763368 RCV000768117 RCV005016331 RCV002490595 RCV003460557 RCV000763367 RCV001027854 RCV005394264 RCV002496682 RCV005394266 RCV000763365 RCV002496685 RCV000768348 RCV000768347 RCV003460649 RCV003460650 RCV002496738 RCV005016353 RCV005016354
Lung cancer	Likely pathogenic	rs45443096	RCV005890301
Lymphangiomyomatosis	Likely pathogenic; Pathogenic	rs2151631825, rs2151061858, rs2151171193, rs2151432406, rs397515125, rs137854113, rs2151190319, rs397515023, rs2090622255, rs137854380, rs886041563, rs45483392, rs45517179, rs28934872, rs45517148, rs137854218, rs45517259, rs45517258, rs45517403, rs1060499676, rs1114167462, rs1131691965, rs137854360, rs45517169, rs45465195, rs45506401, rs137854208, rs45451497, rs45517299, rs45517348, rs137854397, rs137854236, rs45517150, rs45517139, rs45517399, rs45471896, rs45517412, rs137854210, rs45469298, rs45517225, rs45480292, rs45517213, rs45462192, rs45438205, rs45517132, rs45517395, rs45517404, rs45507199, rs137853993, rs45514095, rs137854157, rs45477491, rs137854320, rs45517222, rs45481400, rs1567387207, rs1567437155, rs45517205, rs397514941, rs397515087, rs45517289, rs397515246, rs397515287, rs755728007, rs2087032456	RCV002497929 RCV002246789 RCV002246790 RCV002246791 RCV002246792 RCV002246793 RCV004798954 RCV001197078 RCV003224752 RCV002487175 RCV004796147 RCV000055436 RCV000055539 RCV000055317 RCV000055263 RCV000055053 RCV002482858 RCV001536008 RCV001196213 RCV002502593 RCV005018825 RCV000763366 RCV004795962 RCV004798759 RCV002483039 RCV004795964 RCV002490589 RCV002483040 RCV000055354 RCV002477138 RCV005007963 RCV005016329 RCV002483043 RCV000042662 RCV002496673 RCV003224798 RCV000763368 RCV001195892 RCV000768117 RCV005016331 RCV000055587 RCV004798760 RCV000055536 RCV002490595 RCV001197516 RCV000763367 RCV001027854 RCV005394264 RCV002496682 RCV001198320 RCV001197943 RCV000055289 RCV004798761 RCV000763365 RCV002496685 RCV000768348 RCV000768347 RCV004798765 RCV002247449 RCV002496738 RCV005016353 RCV005016354 RCV002247450 RCV001195824 RCV001196711
Melanoma	Pathogenic	rs1114167466	RCV005899746
Neoplasm	Pathogenic; Likely pathogenic	rs1567489890, rs45446594, rs45481400	RCV001003985 RCV005229859 RCV004668763
Neurodevelopmental disorder	Pathogenic	rs2151108081	RCV001780047
Ovarian cancer	Likely pathogenic	rs2151526348	RCV003154736
See cases	Pathogenic; Likely pathogenic	rs45517330, rs137854879	RCV004584339 RCV004584341
Severe intellectual disability	Pathogenic	rs45514095	RCV000415345
Subependymal giant-cell astrocytoma	Pathogenic; Likely pathogenic	rs45517412, rs45517355, rs45469298	RCV006253750 RCV006253751 RCV006253752
Thyroid cancer, nonmedullary, 1	Pathogenic	rs45455296	RCV005890309
TSC2-related disorder	Pathogenic; Likely pathogenic	rs45517375, rs45483392, rs45517259, rs2151380836, rs2544156694, rs397515171, rs2543932131, rs1555512486, rs45517220, rs45465195, rs137854253, rs137854146, rs45446901, rs45517150, rs45517140, rs45517412, rs137853983, rs45457701, rs137854071, rs45464800, rs45438205, rs45517368, rs45455897, rs45507199, rs1596288988, rs397514914, rs397515144, rs137854879, rs45517360	RCV004538642 RCV004734515 RCV004532330 RCV004529322 RCV004531653 RCV004534430 RCV004542641 RCV004537864 RCV004541218 RCV004537161 RCV004537162 RCV004724771 RCV004724772 RCV004537165 RCV004537166 RCV004537168 RCV004537172 RCV004528236 RCV004724773 RCV004734598 RCV004537174 RCV004537176 RCV004724774 RCV004734600 RCV004726705 RCV004537239 RCV004537244 RCV004537247 RCV004538431
Tuberous sclerosis 1	Pathogenic	rs886041772, rs45517218, rs137854045, rs137854302	RCV002288954 RCV004783731 RCV005644497 RCV001781368
Tuberous sclerosis 2	Likely pathogenic; Pathogenic	rs2091103854, rs45468592, rs45517160, rs2089827541, rs137853999, rs2085667006, rs2151275013, rs2151299256, rs45517271, rs45517302, rs2151576283, rs45481400, rs2151087352, rs2151110209, rs1229561585, rs2151303613, rs2151315345, rs2151318037, rs2151327516, rs2151387560, rs2151431781, rs2151445155, rs137854208, rs2151456652, rs2151458037, rs2151459190, rs2151462008, rs45517299, rs2151480775, rs2151481415, rs137854011, rs2151520497, rs2151520544, rs2151536718, rs2151553190, rs2151573209, rs2151573795, rs1179490369, rs1283177454, rs2151619821, rs2151620921, rs2151641918, rs45488500, rs2151459858, rs397514990, rs2151529577, rs397515064, rs137854079, rs2151134671, rs2151613782, rs2151512637, rs2151165414, rs1186913814, rs2151078913, rs2090871271, rs2151437718, rs137854312, rs2151482554, rs2151318827, rs2151349354, rs137854327, rs2151631825, rs45497997, rs2151576756, rs2151569238, rs2151437486, rs2151327153, rs2151456849, rs2084667702, rs2151444781, rs2151586233, rs2151347763, rs45517401, rs2150970014, rs2151523516, rs137853982, rs2151070992, rs2151628196, rs2151278476, rs2151161634, rs2151631183, rs2151524091, rs397515204, rs763123951, rs2151537568, rs2151585509, rs45488595, rs2151536071, rs368710573, rs45517263, rs2151156291, rs2151641893, rs2151524044, rs2151278146, rs2151134473, rs397515237, rs137854019, rs2151279634, rs2089323124, rs2151630268, rs2150970257, rs45517375, rs397515302, rs2151351558, rs2151297228, rs397515310, rs2151550210, rs2151462525, rs2151188797, rs1195091149, rs2151585074, rs2151621480, rs2151534791, rs1064796970, rs2151545272, rs2151079297, rs397515125, rs2151522509, rs137854248, rs2151380036, rs2151632008, rs2151164702, rs2151521044, rs397515121, rs45483392, rs2151088094, rs1373235682, rs2151192256, rs2151069014, rs2543888758, rs2548521987, rs2543764233, rs2548472327, rs2544071216, rs2543828455, rs2543694566, rs1596418520, rs2151569037, rs2543625009, rs397515076, rs2548547487, rs2544072093, rs2151081778, rs2544404975, rs773255614, rs2548522648, rs794727573, rs794727602, rs2543891836, rs2544155741, rs796053484, rs45517252, rs796053509, rs796053496, rs796053516, rs796053505, rs911600402, rs2544154145, rs397515061, rs2548433432, rs2543927233, rs2543904516, rs2548373189, rs2151155696, rs2544053417, rs2544479059, rs1057518230, rs2548396658, rs2544103037, rs2544282973, rs2544406616, rs2090865014, rs2548351086, rs1358358656, rs2548396741, rs45496402, rs2544469389, rs2543933474, rs2544381683, rs2543928077, rs2548397273, rs397515255, rs2543886485, rs2544521172, rs45438205, rs2544043696, rs2544231243, rs2544034770, rs1422829075, rs781713438, rs2544105995, rs2544285591, rs397515020, rs2544402252, rs2548523097, rs2548351472, rs2548398022, rs2543767299, rs1596400563, rs2548398218, rs397515316, rs1354917235, rs45517102, rs2544021854, rs1389060581, rs2548433982, rs1596265482, rs2548350627, rs45517293, rs2543631409, rs397515257, rs2544494019, rs2544094952, rs2544284689, rs2543928320, rs45484992, rs45517184, rs2544152864, rs2150972985, rs2544256966, rs2151435107, rs2544254027, rs2543891095, rs2544285159, rs878854075, rs397515199, rs878854082, rs397515169, rs397515023, rs878854115, rs878854118, rs2090622255, rs773920155, rs137854380, rs886041772, rs886041563, rs886041919, rs1326276839, rs202068995, rs137854083, rs45512692, rs137854337, rs45517179, rs28934872, rs45517214, rs121964862, rs45517148, rs45516293, rs137854218, rs45517259, rs45517258, rs137854250, rs45515894, rs45514095, rs2543732389, rs2544287299, rs397515144, rs1555514984, rs2543770057, rs2544476516, rs2543678039, rs2151575081, rs35383271, rs45517134, rs2543911801, rs2543929566, rs2544271382, rs2548349199, rs2543818721, rs2544322685, rs2543764309, rs2543931855, rs2544369839, rs2151551960, rs45517369, rs2548553008, rs2151136498, rs2548450771, rs2151170644, rs2543908413, rs2151388871, rs2151524944, rs45517183, rs2544102983, rs2544055758, rs2543700628, rs1044401463, rs2151554076, rs2548351050, rs2548495653, rs2548497000, rs2543892551, rs1057522974, rs2544496983, rs2544305978, rs2543818907, rs2544234809, rs2544160168, rs2548493997, rs2544032618, rs2548553628, rs137854876, rs2544267283, rs1348376140, rs2548461616, rs2544308169, rs2548539006, rs1555502530, rs2543931114, rs2548435097, rs2544273738, rs2543698349, rs2151356819, rs2543674382, rs2548536950, rs777665839, rs2543475153, rs2544161564, rs2548464205, rs2544257930, rs2151462990, rs397515053, rs2151029157, rs2544066099, rs2543907353, rs1336558090, rs2544047995, rs2548497097, rs2544373293, rs2151078845, rs765622787, rs2548472557, rs1195418667, rs2544054315, rs2151080318, rs2544270938, rs137854024, rs2544163111, rs2544378271, rs2151389141, rs2544156047, rs2548522476, rs2543911183, rs2548494387, rs397514897, rs397514915, rs2548553723, rs45488893, rs2544155608, rs2547519694, rs2543932841, rs2544189947, rs1057523242, rs1057523509, rs1060499676, rs1060499647, rs1060500938, rs1060500931, rs1060500972, rs1064792923, rs1060500924, rs1060500934, rs45443096, rs1060500914, rs1060500947, rs1060500950, rs1064796511, rs45517218, rs397515139, rs1085307853, rs137854036, rs1114167462, rs1114167459, rs45469392, rs1114167468, rs1131691602, rs1131691794, rs1131691965, rs1555508929, rs45475793, rs397514994, rs1555512486, rs397515152, rs1555502518, rs1555503131, rs1555505103, rs1555514354, rs1555501373, rs137854117, rs1555505211, rs1555512497, rs1555505208, rs1555506201, rs1441428144, rs1057521562, rs1555441221, rs397515166, rs1555514034, rs1555439847, rs1555514548, rs1555497714, rs1555500535, rs1555497690, rs1555507462, rs1555511585, rs1555512330, rs397514905, rs794727906, rs1555508938, rs1567409292, rs1567428094, rs1567489890, rs1567526941, rs1567533467, rs1567386603, rs1567457100, rs1567521369, rs1567128655, rs1567394860, rs1567437492, rs1567498041, rs1567135103, rs1567398983, rs1567408314, rs397515131, rs1567467135, rs1202939879, rs775604492, rs1567524949, rs45517358, rs1567496821, rs137854345, rs45469099, rs137854127, rs137854360, rs45517169, rs137854226, rs45514794, rs45517177, rs45517199, rs45517201, rs45469298, rs137854310, rs45517210, rs45517096, rs45481704, rs45517229, rs45517234, rs137854140, rs137854328, rs34245038, rs45465195, rs45491698, rs45506401, rs137854076, rs45498892, rs137854018, rs137854253, rs45517105, rs45451497, rs137854326, rs45517297, rs45517305, rs45517306, rs137854368, rs137854289, rs45517334, rs137854307, rs137854160, rs45517348, rs137854175, rs137854425, rs45517352, rs137854146, rs45517370, rs45517371, rs137854331, rs45455296, rs45446901, rs45485092, rs45517382, rs45448101, rs137854882, rs45484794, rs45517396, rs45517398, rs137854251, rs137854219, rs45517411, rs137854397, rs45460895, rs45517118, rs137854236, rs45506396, rs45517150, rs45451199, rs45517139, rs137854012, rs45517140, rs45517119, rs137854317, rs45517399, rs45515392, rs45467993, rs45517388, rs137853977, rs137854020, rs45517410, rs45471896, rs45517386, rs45517412, rs45495796, rs45455897, rs45517355, rs137854880, rs45517344, rs45517346, rs137854045, rs45517349, rs137854053, rs45517335, rs45478894, rs45517337, rs1555511663, rs137854223, rs137854210, rs45517280, rs45517308, rs45517327, rs137854001, rs45468292, rs45476100, rs137854155, rs45489791, rs45517288, rs137854128, rs137854375, rs45517192, rs137854322, rs45517209, rs45517174, rs137854346, rs45517178, rs137853983, rs45517182, rs137854189, rs45491095, rs45469896, rs45457701, rs45517225, rs45509697, rs45517164, rs137854021, rs45517227, rs45517228, rs137854071, rs45454398, rs137853995, rs45517212, rs45501596, rs137854015, rs45464800, rs45517213, rs45462192, rs45517099, rs45517262, rs137854216, rs45517239, rs45517324, rs45517246, rs45517360, rs45496291, rs45517329, rs45517330, rs45502196, rs45517111, rs45437193, rs137854306, rs137854046, rs137854399, rs137854113, rs45517372, rs45517270, rs45517404, rs137854027, rs45517389, rs45438192, rs45463996, rs137854122, rs137854049, rs137854292, rs137854261, rs45517117, rs45517125, rs45517128, rs45466296, rs45517132, rs45446594, rs45517393, rs45517395, rs45517143, rs137854200, rs45472701, rs45503995, rs45507199, rs45517377, rs137854343, rs137854141, rs45454192, rs45517341, rs137854017, rs137854382, rs137853993, rs45445199, rs137854359, rs45517112, rs137854157, rs45517282, rs45517362, rs45517287, rs137854302, rs45517289, rs1555510754, rs137854363, rs45517292, rs45487291, rs137854314, rs45517248, rs45517250, rs137854132, rs45477491, rs45517257, rs45517367, rs137854203, rs45479192, rs137854877, rs45483301, rs45486196, rs45517298, rs45517216, rs45517217, rs137854361, rs45515902, rs137854006, rs45517222, rs45517226, rs45471596, rs45462194, rs45517232, rs45509791, rs45509094, rs137854072, rs45517158, rs45517159, rs45438400, rs45517165, rs137854266, rs45481199, rs1567387207, rs1567437155, rs1596275494, rs1596298137, rs1596298721, rs1596312554, rs1596336436, rs1596343922, rs1596350698, rs45485395, rs1596369682, rs1596382441, rs796053492, rs1596400038, rs1596417662, rs1596439555, rs1596455074, rs1596259720, rs1596317714, rs397515066, rs1596303814, rs1596288988, rs397514884, rs397514888, rs397514902, rs397515297, rs397514913, rs397514914, rs45517205, rs397514922, rs397514933, rs397514939, rs397515303, rs397514941, rs397514952, rs397514953, rs137854415, rs397514958, rs397514959, rs397514972, rs397514976, rs397514978, rs397514979, rs137854135, rs397514997, rs397515003, rs397515009, rs397515021, rs397515035, rs397515039, rs397515054, rs45471791, rs397515070, rs397515082, rs397515085, rs397515087, rs397515097, rs397515105, rs397515301, rs397515315, rs397515115, rs397515148, rs397515154, rs397515159, rs397515163, rs397515168, rs397515170, rs397515176, rs397515177, rs397515194, rs397515195, rs397515198, rs137853988, rs397515203, rs397515205, rs397515208, rs397515218, rs397515319, rs397515220, rs137854144, rs397515227, rs397515228, rs397515246, rs397515256, rs397515262, rs397515270, rs397515277, rs397515284, rs1555497641, rs1596335963, rs751172150, rs1596356898, rs1596382268, rs137854254, rs1596439426, rs1596460606, rs1596344279, rs1596356248, rs2084669441, rs2084681207, rs2084683129, rs2085373985, rs2085375504, rs2085669104, rs2086233936, rs2086777094, rs2039161082, rs2087230941, rs1596336374, rs2088476977, rs2088927807, rs2088931795, rs2089261042, rs2089272680, rs2089786684, rs2089803859, rs2090169575, rs2090170656, rs2090423688, rs878854101, rs2090524176, rs2090542594, rs2090620654, rs2090775918, rs2090784696, rs2090851576, rs2090865155, rs2091147162, rs45517207, rs2090477253, rs2084954667, rs2086678681, rs2085499583, rs2085955298, rs1345813917, rs2086680808, rs2086765953, rs2086767947, rs2087013746, rs2088122285, rs397515048, rs2090516898, rs2091048308, rs1001221917, rs2084674122, rs750174170, rs2086826069, rs2088385424, rs2089256835, rs1060500975, rs2089838149, rs397514887, rs2090492186, rs2090530802, rs2091087487, rs2085898708, rs2087242404, rs2088938668, rs2089834376, rs2090496214, rs1441136255, rs2087026946, rs2086699971, rs2088702417, rs2090634528, rs2091089201, rs2089331902, rs2089878502, rs2089956522, rs2090159838, rs2090785469, rs2089270984, rs2089840483, rs2086689358, rs2088933078, rs2090784195, rs2088453139, rs2089276880, rs2088388374, rs2090626831, rs2088578781	RCV001326801 RCV001329371 RCV001329367 RCV001346894 RCV001350488 RCV001379717 RCV001378955 RCV001377439 RCV001379012 RCV001379516 RCV001379473 RCV001381931 RCV001384635 RCV001387617 RCV001387519 RCV001390163 RCV001386463 RCV001385057 RCV001385625 RCV001383651 RCV001386610 RCV001385714 RCV001380505 RCV001382315 RCV001389388 RCV001383807 RCV001385431 RCV001385218 RCV001389684 RCV001388843 RCV001387401 RCV001382041 RCV001390821 RCV001386370 RCV001388895 RCV001385210 RCV001388505 RCV001381572 RCV001390704 RCV001387615 RCV001382314 RCV001381918 RCV001871999 RCV001542790 RCV003626679 RCV002538707 RCV003512137 RCV001823560 RCV001824268 RCV001962638 RCV001887356 RCV001906231 RCV001978967 RCV001999926 RCV002021985 RCV001920823 RCV001886703 RCV001951886 RCV001889303 RCV001905944 RCV001982520 RCV001969546 RCV001949222 RCV001953738 RCV001890942 RCV001884601 RCV001947098 RCV001927801 RCV001891847 RCV001911170 RCV001882143 RCV001898618 RCV002014902 RCV002049578 RCV002035328 RCV002035369 RCV002007370 RCV001926925 RCV001927007 RCV002002424 RCV001999964 RCV001999966 RCV002037753 RCV001994647 RCV002000030 RCV002000083 RCV002024455 RCV001866512 RCV002035448 RCV001908155 RCV001939659 RCV001962964 RCV001939519 RCV001939547 RCV001939583 RCV001941532 RCV001951282 RCV001951121 RCV001963015 RCV001958603 RCV001974986 RCV001952499 RCV001949419 RCV001880826 RCV001972546 RCV002005918 RCV001959119 RCV001907039 RCV001952141 RCV001958760 RCV002042225 RCV001895293 RCV001921994 RCV001983588 RCV001983932 RCV002223102 RCV004796715 RCV002251035 RCV002267147 RCV002267148 RCV002267149 RCV002267202 RCV002267203 RCV002267204 RCV003512143 RCV002274816 RCV002274819 RCV002274867 RCV002274869 RCV002283601 RCV002283748 RCV002283767 RCV002283848 RCV002283940 RCV002283947 RCV002286515 RCV002287848 RCV003512154 RCV003512175 RCV002463881 RCV002466379 RCV002471852 RCV003064304 RCV003079199 RCV003079200 RCV002510738 RCV005089890 RCV001852204 RCV002617172 RCV002625741 RCV001051912 RCV001797674 RCV000801616 RCV002517023 RCV002514076 RCV000802435 RCV002792149 RCV002828301 RCV002806468 RCV002846870 RCV002871050 RCV002828650 RCV002856712 RCV002838609 RCV002851338 RCV002834485 RCV002851788 RCV002856293 RCV002830016 RCV002863335 RCV002871281 RCV002867186 RCV002885028 RCV002862883 RCV002866578 RCV002858645 RCV002876503 RCV002898668 RCV002889386 RCV002876692 RCV002893864 RCV002877620 RCV002885247 RCV002872580 RCV002877464 RCV002899403 RCV002937284 RCV002923054 RCV002914956 RCV002966489 RCV002971849 RCV002954248 RCV003009702 RCV003018204 RCV000201207 RCV003009045 RCV002999788 RCV003013911 RCV003016528 RCV003019336 RCV003031163 RCV003034215 RCV003038865 RCV003032519 RCV003020042 RCV003020077 RCV003019971 RCV003026299 RCV003023508 RCV003026791 RCV003026811 RCV003042599 RCV003039480 RCV003043293 RCV003030205 RCV003048935 RCV003057091 RCV003036047 RCV003052295 RCV003044607 RCV003045172 RCV003128282 RCV003131777 RCV003132983 RCV003131783 RCV003149162 RCV003153000 RCV003153223 RCV000228535 RCV000227968 RCV000231818 RCV000225986 RCV000233034 RCV000227937 RCV000233818 RCV003224752 RCV000609232 RCV001855061 RCV001042530 RCV001204030 RCV004796147 RCV000550192 RCV003233058 RCV003234985 RCV000013200 RCV000013201 RCV000013202 RCV000013203 RCV000013204 RCV000013205 RCV000013207 RCV000013208 RCV001194675 RCV000013210 RCV000013211 RCV000013212 RCV000013213 RCV000013214 RCV000013215 RCV000013216 RCV003333812 RCV003340988 RCV003388882 RCV003389299 RCV003452623 RCV003512379 RCV003512248 RCV003512319 RCV003512363 RCV003512830 RCV003512817 RCV003512339 RCV003512340 RCV003512391 RCV003512396 RCV003512889 RCV003512955 RCV003513059 RCV003513242 RCV003513131 RCV003513375 RCV003513445 RCV003513398 RCV003513552 RCV003513632 RCV003513633 RCV003513635 RCV003513636 RCV003513637 RCV003511489 RCV003513779 RCV003511514 RCV003513651 RCV003511548 RCV003511640 RCV003511543 RCV003511627 RCV003511692 RCV003511734 RCV003511820 RCV003512457 RCV003512502 RCV003511608 RCV003511610 RCV003511731 RCV003511862 RCV003511919 RCV003511899 RCV003512464 RCV003512618 RCV003512652 RCV003511956 RCV003511966 RCV003512592 RCV003512732 RCV003512508 RCV003512512 RCV003512588 RCV003626931 RCV003626932 RCV003627696 RCV003627815 RCV003627897 RCV003627900 RCV003627904 RCV003628065 RCV003627929 RCV003628034 RCV003628119 RCV003628224 RCV003628265 RCV003628285 RCV003628286 RCV003628320 RCV003628305 RCV003628396 RCV003628303 RCV003628334 RCV003628426 RCV003628437 RCV003626115 RCV003628481 RCV003626146 RCV003626147 RCV003626194 RCV003626248 RCV003627415 RCV003627416 RCV003985968 RCV003986013 RCV003986029 RCV003990344 RCV003990833 RCV003991223 RCV004515781 RCV004555427 RCV004557270 RCV004584258 RCV004586425 RCV001797714 RCV000817980 RCV001861619 RCV000449506 RCV000461470 RCV000473256 RCV000471983 RCV000463381 RCV000464189 RCV000458135 RCV000462786 RCV000461214 RCV000463722 RCV000467462 RCV000469350 RCV003338609 RCV001797734 RCV000555170 RCV002525795 RCV002289659 RCV005091001 RCV003626623 RCV002523430 RCV003512050 RCV002526065 RCV000689112 RCV001050966 RCV000763366 RCV000505539 RCV000660344 RCV000512714 RCV001194693 RCV000644219 RCV001036453 RCV000704780 RCV000558717 RCV000537048 RCV000550259 RCV000559306 RCV000537369 RCV000525865 RCV000546941 RCV000524605 RCV000529115 RCV000549364 RCV000538186 RCV000525267 RCV000532879 RCV000536056 RCV000546695 RCV000542407 RCV000644207 RCV001797767 RCV000644125 RCV000644140 RCV000644092 RCV000644151 RCV000644091 RCV000644141 RCV000644182 RCV000644166 RCV000644114 RCV000644220 RCV000644093 RCV000644228 RCV000644175 RCV000660340 RCV000660345 RCV000660350 RCV000687442 RCV000685591 RCV000691799 RCV000705538 RCV000694779 RCV000702898 RCV000685542 RCV000687134 RCV000686001 RCV000704652 RCV000706272 RCV000701005 RCV000697494 RCV000702867 RCV000700694 RCV000691479 RCV000702727 RCV000685397 RCV000697993 RCV000701449 RCV000688998 RCV001861998 RCV001065226 RCV000644081 RCV001388102 RCV000554425 RCV000201131 RCV001852874 RCV005620895 RCV001056606 RCV003511983 RCV001852875 RCV001388105 RCV003511984 RCV001852876 RCV005255559 RCV000201113 RCV001250498 RCV000201046 RCV001202863 RCV001852877 RCV001815175 RCV005600632 RCV000462671 RCV000201071 RCV001063941 RCV000201154 RCV002513616 RCV000545419 RCV000801625 RCV005089386 RCV001225613 RCV000201090 RCV001852878 RCV001852879 RCV000694582 RCV001045249 RCV000543360 RCV001036695 RCV001852880 RCV002513617 RCV002513618 RCV001852881 RCV000701433 RCV003156732 RCV000553662 RCV000201030 RCV001194687 RCV001042432 RCV000691590 RCV001388268 RCV005089387 RCV002513619 RCV000201210 RCV000470698 RCV001383217 RCV001042053 RCV000543686 RCV001048099 RCV000553605 RCV001068320 RCV000793317 RCV001797601 RCV000013199 RCV001852882 RCV000802438 RCV000201086 RCV002513622 RCV000201082 RCV005016329 RCV001039254 RCV000465503 RCV000644206 RCV002513623 RCV001852884 RCV005089389 RCV000201164 RCV000699187 RCV000201172 RCV000201137 RCV001852885 RCV001852886 RCV003326118 RCV003626600 RCV000180518 RCV000698426 RCV001781366 RCV002514167 RCV001852888 RCV000201203 RCV000201065 RCV005089390 RCV001831715 RCV001036250 RCV001224625 RCV001232925 RCV001852889 RCV003511986 RCV000660348 RCV001062658 RCV002250506 RCV003626601 RCV001070626 RCV001852890 RCV000201035 RCV000660346 RCV000989432 RCV000201083 RCV005089391 RCV000810322 RCV002266913 RCV000201169 RCV000701173 RCV002288540 RCV000702623 RCV000812597 RCV001252981 RCV000201152 RCV001250499 RCV003511987 RCV000201194 RCV005089392 RCV001380263 RCV002266914 RCV002513625 RCV001852892 RCV000201016 RCV003388570 RCV002266915 RCV000539587 RCV000475301 RCV000201163 RCV001038792 RCV001388103 RCV001382877 RCV001056624 RCV001382878 RCV001194681 RCV000722173 RCV005089393 RCV001781367 RCV000800581 RCV000800582 RCV001852894 RCV002514169 RCV000201105 RCV000229589 RCV003155053 RCV003511990 RCV000806140 RCV002266916 RCV000201180 RCV005089394 RCV000707342 RCV002513628 RCV001379864 RCV003511992 RCV000473440 RCV000190880 RCV001377312 RCV001380264 RCV001054560 RCV001280880 RCV001390822 RCV000660347 RCV000694650 RCV002513629 RCV001852897 RCV002514170 RCV000813537 RCV001225142 RCV001249601 RCV001852898 RCV001047663 RCV001040727 RCV000201066 RCV003511993 RCV001215383 RCV000795199 RCV001064746 RCV000644240 RCV001852899 RCV001216513 RCV001037420 RCV000792508 RCV000818975 RCV005089396 RCV001253193 RCV000201053 RCV000685234 RCV002283449 RCV005089397 RCV001037395 RCV000201109 RCV000457139 RCV001852900 RCV000693889 RCV000459221 RCV000201077 RCV001058679 RCV000472098 RCV001281110 RCV000462556 RCV003128238 RCV000201008 RCV002298454 RCV000201149 RCV003511996 RCV002514172 RCV001238557 RCV000201116 RCV001237072 RCV002513631 RCV005089398 RCV003398613 RCV003511997 RCV001194684 RCV001222160 RCV003511998 RCV000201021 RCV003485532 RCV002514173 RCV002513632 RCV000989438 RCV003511999 RCV000694778 RCV000690660 RCV001042713 RCV000201157 RCV001230710 RCV000476030 RCV000815382 RCV000201003 RCV001852902 RCV001211580 RCV000989436 RCV005394266 RCV001054715 RCV000820413 RCV002514176 RCV000201115 RCV005089400 RCV000807899 RCV001240824 RCV001852903 RCV000811066 RCV002273946 RCV000722174 RCV002514178 RCV001852904 RCV000201032 RCV003512001 RCV001852905 RCV000201026 RCV001852907 RCV000473316 RCV003512002 RCV005644498 RCV000660342 RCV000201101 RCV003512003 RCV001388104 RCV002470737 RCV001380069 RCV000807349 RCV000768348 RCV000768347 RCV000786887 RCV000808105 RCV000793048 RCV000801770 RCV000800688 RCV000819170 RCV000821407 RCV000822238 RCV000799704 RCV000810139 RCV000800901 RCV000821196 RCV000812206 RCV000813440 RCV000802862 RCV000817863 RCV000813207 RCV000822477 RCV000813443 RCV000803783 RCV000816573 RCV000815340 RCV000853247 RCV005089451 RCV001069066 RCV001853085 RCV000201103 RCV000233779 RCV000644057 RCV001853086 RCV003512005 RCV001853087 RCV000550782 RCV001253278 RCV001241710 RCV001250500 RCV002266919 RCV002515742 RCV001250502 RCV001044787 RCV000989416 RCV001194690 RCV000989435 RCV000814891 RCV000460919 RCV001039974 RCV005089454 RCV002513717 RCV001250501 RCV001387404 RCV000201100 RCV003989309 RCV002515743 RCV000688455 RCV000553650 RCV000817575 RCV001194685 RCV005600634 RCV002266920 RCV001853092 RCV001281109 RCV000680620 RCV000660341 RCV003512006 RCV001853093 RCV000806791 RCV002513719 RCV001853094 RCV002250551 RCV001037582 RCV005089455 RCV003985724 RCV006436422 RCV001250764 RCV002514278 RCV001853095 RCV000989440 RCV002051805 RCV003512007 RCV000722175 RCV002513722 RCV001250504 RCV002513723 RCV005016353 RCV005089457 RCV005089458 RCV001250497 RCV005890370 RCV001853096 RCV001853097 RCV001250496 RCV001250503 RCV003512008 RCV001814036 RCV003626604 RCV000816368 RCV001854154 RCV001388145 RCV000201097 RCV003512009 RCV001248431 RCV001824119 RCV001058718 RCV000466789 RCV003512010 RCV005089460 RCV002513725 RCV001250762 RCV001042510 RCV000989414 RCV000989421 RCV000989425 RCV000989427 RCV000989428 RCV000989433 RCV000989434 RCV000989439 RCV000989441 RCV003626650 RCV003512094 RCV005093050 RCV001211891 RCV001039905 RCV001068366 RCV001049073 RCV001065161 RCV001061746 RCV001040877 RCV001066746 RCV001063494 RCV001069148 RCV001044510 RCV001050047 RCV001042646 RCV001041714 RCV001053378 RCV001044014 RCV001050170 RCV001059000 RCV001056118 RCV001036657 RCV001040318 RCV001036030 RCV001069106 RCV001051041 RCV001050863 RCV001039926 RCV001051648 RCV001034833 RCV001055793 RCV001060045 RCV001065329 RCV001036353 RCV001049347 RCV001065003 RCV001069910 RCV001037962 RCV003130153 RCV001194683 RCV001194691 RCV001194692 RCV001194676 RCV001194677 RCV001194678 RCV001194679 RCV001194680 RCV001194682 RCV001194686 RCV001194688 RCV001194689 RCV002267081 RCV001214238 RCV001224397 RCV001223478 RCV001214898 RCV001217944 RCV001218321 RCV001223302 RCV001223699 RCV001225123 RCV001216098 RCV001215628 RCV001211842 RCV001213734 RCV001203262 RCV001209272 RCV001212746 RCV001211770 RCV001216852 RCV001232211 RCV001238797 RCV001235987 RCV001232879 RCV001239234 RCV001243438 RCV001240065 RCV001246448 RCV001247159 RCV001243707 RCV001281333 RCV001250760 RCV001250759 RCV001250763 RCV001250758 RCV001250757 RCV001250761 RCV001257305 RCV001258096 RCV001262864 RCV001280903 RCV001863148
Tuberous sclerosis syndrome	Pathogenic; Likely pathogenic	rs2151164702, rs137854089, rs796053484, rs2543891095, rs886041772, rs886041563, rs2548538848, rs137854083, rs45483392, rs45512692, rs137854337, rs45517179, rs28934872, rs45517214, rs121964862, rs45517148, rs45516293, rs137854218, rs45517259, rs45517258, rs137854250, rs45515894, rs2543764309, rs2151170644, rs2544156047, rs2544067323, rs2544402748, rs2544324324, rs137854330, rs397515105, rs2543817109, rs2543673284, rs137854036, rs1057521562, rs794727906, rs1567533189, rs1567489890, rs1555511352, rs137854345, rs45469099, rs137853998, rs137854127, rs137854360, rs45517169, rs137854226, rs45514794, rs45517177, rs45517199, rs45517201, rs45469298, rs137854310, rs45517210, rs45517218, rs45517220, rs45517096, rs45481704, rs45517229, rs45517234, rs137853997, rs137854140, rs137854232, rs45475594, rs137854328, rs34245038, rs45438592, rs45465195, rs45491698, rs45506401, rs45443096, rs137854076, rs45498892, rs137854018, rs137854253, rs45517105, rs137854208, rs45451497, rs137854326, rs137853982, rs45517297, rs45517299, rs45517305, rs45517306, rs137854368, rs137854289, rs137854273, rs45517334, rs45517339, rs137854307, rs137854312, rs137854160, rs45517348, rs137854175, rs137854425, rs45517352, rs137854146, rs45517358, rs45517109, rs45517370, rs45488500, rs45517371, rs137854331, rs45455296, rs45446901, rs137854095, rs45485092, rs45517382, rs45448101, rs45476793, rs45517387, rs137854882, rs45484794, rs137854336, rs45517393, rs45517396, rs45517398, rs137854251, rs137854219, rs45517411, rs137854397, rs45517115, rs45460895, rs45517118, rs137854236, rs45517129, rs45506396, rs45517150, rs45451199, rs45517139, rs137854012, rs45517140, rs45488893, rs45517119, rs137854002, rs137854317, rs45517399, rs45515392, rs45467993, rs45517388, rs137853977, rs137854020, rs45517410, rs137854156, rs45471896, rs45517369, rs45517386, rs45517412, rs45495796, rs45455897, rs45517355, rs137854880, rs45517344, rs45497997, rs45517346, rs137854045, rs45517349, rs137854028, rs137854053, rs45517335, rs45478894, rs45517337, rs137854327, rs1555511663, rs137854393, rs137854223, rs137854210, rs45517280, rs45517308, rs45517327, rs45517263, rs137854001, rs45468292, rs45517296, rs45476100, rs45517233, rs137854155, rs45489791, rs45517288, rs137854128, rs45517255, rs137854019, rs137854247, rs45464093, rs137854375, rs45517192, rs137854371, rs137854322, rs45517209, rs45517174, rs137854346, rs45517178, rs137853983, rs45517182, rs45517183, rs137854189, rs45491095, rs45469896, rs45517091, rs137854117, rs45457701, rs45517225, rs45509697, rs45480292, rs137854082, rs45517164, rs137854021, rs45517227, rs45517228, rs137854071, rs45454398, rs137853995, rs45517212, rs45501596, rs137854015, rs45464800, rs45517213, rs45462192, rs45517099, rs45517262, rs137854216, rs45517239, rs45458694, rs45438205, rs137853988, rs45517324, rs45517246, rs45517268, rs137854162, rs45517360, rs45496291, rs45517329, rs137854106, rs45517330, rs137854427, rs45502196, rs45517111, rs45517368, rs45437193, rs137854135, rs137854306, rs137854074, rs137854046, rs137854399, rs137854113, rs137854329, rs45517372, rs45517270, rs45517252, rs45517404, rs137854027, rs45517375, rs45517389, rs45517293, rs45438192, rs45484992, rs45463996, rs137854122, rs137854049, rs45498496, rs137854292, rs137854261, rs137854101, rs45517117, rs45468592, rs45517379, rs45517125, rs45517128, rs45517131, rs45466296, rs45517132, rs45446594, rs45517395, rs137854052, rs137854024, rs45517143, rs137854200, rs45472701, rs45503995, rs45507199, rs45517413, rs45517377, rs137854343, rs137854141, rs45454192, rs45517341, rs137854017, rs137854382, rs137853993, rs45445199, rs45514095, rs137854359, rs45517112, rs137854157, rs45517282, rs45517362, rs45517287, rs137854302, rs45517289, rs1555510754, rs137854363, rs45517292, rs45517102, rs45505995, rs45487291, rs137854037, rs137854314, rs45517248, rs45517250, rs137854132, rs45477491, rs45517257, rs45517367, rs137854203, rs45479192, rs137854877, rs45483301, rs45486196, rs45517298, rs137854320, rs45517216, rs45517217, rs137854361, rs45515902, rs137854006, rs45517222, rs137854023, rs45517226, rs45471596, rs45517190, rs45462194, rs45517232, rs45509791, rs45509094, rs137854072, rs45517158, rs45517159, rs45438400, rs45517165, rs137854266, rs45517207, rs45481400, rs45481199, rs397514884, rs397514888, rs397514897, rs397514902, rs397515297, rs397514913, rs397514914, rs45517205, rs397514919, rs397514922, rs137854050, rs397514929, rs397514933, rs397514939, rs397515303, rs397514941, rs397514952, rs397514953, rs137854415, rs397514958, rs397514959, rs397514972, rs397514976, rs397514978, rs397514979, rs397514997, rs137854079, rs397515003, rs397515009, rs397515014, rs397515021, rs397515023, rs397515033, rs397515309, rs397515035, rs397515039, rs397515053, rs397515054, rs45471791, rs397515066, rs397515070, rs397515073, rs397515076, rs397515082, rs397515085, rs397515087, rs397515097, rs397515301, rs397515315, rs397515115, rs397515144, rs397515148, rs397515154, rs397515159, rs397515163, rs397515168, rs397515169, rs397515170, rs397515173, rs397515176, rs397515177, rs397515194, rs397515195, rs397515198, rs397515203, rs397515204, rs397515205, rs397515208, rs397515218, rs397515319, rs397515220, rs137854879, rs397515302, rs137854144, rs397515227, rs397515228, rs45517364, rs397515246, rs397515256, rs397515257, rs397515260, rs397515262, rs397515270, rs397515274, rs397515277, rs397515284, rs397515287, rs2086699971, rs2090634528	RCV006437142 RCV003776272 RCV003996881 RCV003149162 RCV005865289 RCV005865288 RCV003324399 RCV000042568 RCV000043065 RCV000042837 RCV000043367 RCV000043399 RCV000042946 RCV000042452 RCV000042413 RCV000042986 RCV000043266 RCV000043162 RCV000042875 RCV000042962 RCV000042482 RCV000042461 RCV000043450 RCV003994567 RCV006444118 RCV005356523 RCV003994692 RCV004006265 RCV004018357 RCV004018364 RCV004556116 RCV004556161 RCV004556163 RCV000043252 RCV005865353 RCV000984876 RCV005407850 RCV000754676 RCV005357922 RCV006440058 RCV000042395 RCV000042397 RCV000042400 RCV000042402 RCV000042406 RCV000042408 RCV000042410 RCV000042414 RCV000042417 RCV000042430 RCV000042431 RCV000042433 RCV000042442 RCV000042447 RCV000042454 RCV000042456 RCV000042457 RCV000042462 RCV000042463 RCV000042465 RCV000042466 RCV000042471 RCV000042479 RCV000042480 RCV000042485 RCV000042491 RCV000042495 RCV000042499 RCV000042500 RCV000042503 RCV000042504 RCV000042505 RCV000042506 RCV000042509 RCV000042511 RCV000042512 RCV000042515 RCV000042516 RCV000042520 RCV000042521 RCV000042522 RCV000042523 RCV000042528 RCV000042529 RCV000042543 RCV000042544 RCV000042546 RCV000042550 RCV000042553 RCV000042555 RCV000042557 RCV000042559 RCV000042560 RCV000042563 RCV000042564 RCV000042565 RCV000042570 RCV000042572 RCV000042579 RCV000042580 RCV000042581 RCV000042583 RCV000042585 RCV000042586 RCV000042587 RCV000042589 RCV000042593 RCV000042595 RCV000042600 RCV000042602 RCV000042603 RCV000042604 RCV000042605 RCV000042609 RCV000042610 RCV000042611 RCV000042612 RCV000042620 RCV000042622 RCV000042623 RCV000042626 RCV000042636 RCV000042637 RCV000042640 RCV000042643 RCV000042645 RCV000042648 RCV000042656 RCV000042657 RCV000042662 RCV000042664 RCV000042665 RCV000042670 RCV000042671 RCV000042674 RCV000042677 RCV000042685 RCV000042687 RCV000042689 RCV000042697 RCV000042700 RCV000042703 RCV000042707 RCV000042708 RCV000042713 RCV000042715 RCV000042718 RCV000042724 RCV000042728 RCV000042731 RCV000042735 RCV000042736 RCV000042739 RCV000042745 RCV000042746 RCV000042750 RCV000042751 RCV000042752 RCV000042757 RCV000042758 RCV000042765 RCV000042775 RCV000042776 RCV000042778 RCV000042784 RCV000042785 RCV000042787 RCV000042794 RCV000042795 RCV000042799 RCV000042807 RCV000042809 RCV000042810 RCV000042815 RCV000042820 RCV000042821 RCV000042828 RCV000042829 RCV000042830 RCV000042839 RCV000042841 RCV000042844 RCV000042847 RCV000042848 RCV000042850 RCV000042853 RCV000042856 RCV000042860 RCV000042861 RCV000042862 RCV000042868 RCV000042880 RCV000042885 RCV000042891 RCV000042894 RCV000042895 RCV000042898 RCV000042899 RCV000042905 RCV000042906 RCV000042908 RCV000042909 RCV000042912 RCV000042913 RCV000042918 RCV000042923 RCV000042937 RCV000042938 RCV000042941 RCV000042945 RCV000042947 RCV000042955 RCV000042956 RCV000042973 RCV000042975 RCV000042977 RCV000042979 RCV000042985 RCV000042990 RCV000042995 RCV000042996 RCV000042998 RCV000042999 RCV000043000 RCV000043001 RCV000043002 RCV000043003 RCV000043011 RCV000043014 RCV000043015 RCV000043016 RCV000043024 RCV000043035 RCV000043036 RCV000043043 RCV000043045 RCV000043047 RCV000043051 RCV000043059 RCV000043062 RCV000043066 RCV000043068 RCV000043072 RCV000043079 RCV000043081 RCV000043085 RCV000043086 RCV000043087 RCV000043091 RCV000043092 RCV000043094 RCV000043097 RCV000043099 RCV000043100 RCV000043103 RCV000043104 RCV000043107 RCV000043109 RCV000043111 RCV000043114 RCV000043115 RCV000043118 RCV000043125 RCV000043130 RCV000043134 RCV000043137 RCV000043140 RCV000043142 RCV000043143 RCV000043145 RCV000043147 RCV000043149 RCV000043153 RCV000043159 RCV000043163 RCV000043169 RCV000043170 RCV000043177 RCV000043181 RCV000043186 RCV000043188 RCV000043189 RCV000043190 RCV000043193 RCV000043196 RCV000043197 RCV000043198 RCV000043199 RCV000043202 RCV000043210 RCV000043211 RCV000043213 RCV000043215 RCV000043217 RCV000043223 RCV000043227 RCV000043228 RCV000043229 RCV000043232 RCV000043245 RCV000043248 RCV000043251 RCV000043254 RCV000043259 RCV000043267 RCV000043271 RCV000043281 RCV000043292 RCV000043297 RCV000043304 RCV000043305 RCV000043307 RCV000043314 RCV000043318 RCV000043321 RCV000043322 RCV000043323 RCV000043324 RCV000043327 RCV000043329 RCV000043330 RCV000043331 RCV000043332 RCV000043333 RCV000043342 RCV000043343 RCV000043346 RCV000043349 RCV000043353 RCV000043359 RCV000043361 RCV000043362 RCV000043363 RCV000043370 RCV000043372 RCV000043373 RCV000043376 RCV000043379 RCV000043385 RCV000043386 RCV000043387 RCV000043394 RCV000043396 RCV000043398 RCV000043401 RCV000043411 RCV000043413 RCV000043415 RCV000043416 RCV000043424 RCV000043430 RCV000043431 RCV000043433 RCV000043443 RCV000043444 RCV000043446 RCV000043455 RCV000043457 RCV000043459 RCV000043461 RCV000043463 RCV000043464 RCV000055050 RCV000055057 RCV000055064 RCV000055071 RCV000055076 RCV000055085 RCV000055089 RCV000055090 RCV000055096 RCV000055098 RCV000055102 RCV000055109 RCV000055110 RCV000055114 RCV000055122 RCV000055123 RCV000055124 RCV000055138 RCV000055139 RCV000055140 RCV000055146 RCV000055147 RCV000055163 RCV000055168 RCV000055172 RCV000055175 RCV000055176 RCV000055192 RCV000055199 RCV000055207 RCV000055209 RCV000055216 RCV000055224 RCV000055229 RCV000055230 RCV000055237 RCV000055238 RCV000055241 RCV000055243 RCV000055246 RCV000055256 RCV000055257 RCV000055259 RCV000055264 RCV000055280 RCV000055281 RCV000055298 RCV000055300 RCV000055302 RCV000055306 RCV000055309 RCV000055312 RCV000055321 RCV000055325 RCV000055329 RCV000055343 RCV000055347 RCV000055351 RCV000055366 RCV000055367 RCV000055375 RCV000055411 RCV000055416 RCV000055428 RCV000055434 RCV000055442 RCV000055451 RCV000055453 RCV000055455 RCV000055458 RCV000055460 RCV000055463 RCV000055464 RCV000055466 RCV000055480 RCV000055488 RCV000055489 RCV000055492 RCV000055494 RCV000055498 RCV000055500 RCV000055501 RCV000055506 RCV000055513 RCV000055520 RCV000055522 RCV000055523 RCV000055526 RCV000055531 RCV000055533 RCV000055534 RCV000055535 RCV000055542 RCV000055558 RCV000055569 RCV000055570 RCV000055572 RCV000055575 RCV000055584 RCV000055589 RCV000055592 RCV000055594 RCV000055605 RCV000055609 RCV005865471 RCV006437026

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs2151549002, rs2090619495, rs397514906, rs397514907, rs397515137, rs397515237, rs397515238, rs397515258, rs397515259	-
Acute myeloid leukemia	Benign; Uncertain significance	rs45517351, rs757274577	RCV005890315 RCV005603682
Adrenocortical carcinoma, hereditary	Benign	rs1800720	RCV005890324
Astroblastoma, MN1-altered	Uncertain significance	rs1596457926	RCV003325215
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Benign	rs45445593, rs1800720	RCV005890310 RCV005890329
Colon adenocarcinoma	Benign; Likely benign	rs45517264	RCV005890298
Colorectal cancer	Conflicting classifications of pathogenicity; Benign	rs150195368, rs756995937, rs1800720	RCV005888939 RCV005899956 RCV005890327
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	rs999523698	RCV005626308
Dilated cardiomyopathy 1D	Conflicting classifications of pathogenicity	rs779275341	RCV005863056
Dystonia, early-onset, and/or spastic paraplegia	Conflicting classifications of pathogenicity	rs45517172	RCV005625249
Epilepsy	Conflicting classifications of pathogenicity	rs397515288	RCV005625258
Familial cancer of breast	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs747561824, rs2543969428, rs45517317	RCV005912693 RCV005927129 RCV005890312
Familial prostate cancer	-	rs137854173	RCV005917501
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs375837026, rs137854268, rs45517206	RCV005899441 RCV005890313 RCV005890314
Hepatocellular carcinoma	Benign; Likely benign	rs45517264, rs11551373, rs45487992	RCV005890299 RCV005890302 RCV005890307
Hirschsprung disease, susceptibility to, 1	Conflicting classifications of pathogenicity	rs45484298	RCV000201296
Hypertrophic cardiomyopathy 7	Conflicting classifications of pathogenicity	rs140618379	RCV005863060
Lung lymphangioleiomyomatosis	Conflicting classifications of pathogenicity; Benign; Likely benign	rs137854239, rs35986575, rs45517208, rs45517373, rs45480591	RCV005357280 RCV005357281 RCV005357282 RCV005357283 RCV005364918
Lymphoma	Benign	rs1800720	RCV005890328
Malignant lymphoma, large B-cell, diffuse	Benign	rs1800720	RCV005890326
Malignant tumor of esophagus	Benign	rs45517351	RCV005890316
Neoplasm of brain	Benign	rs1800720	RCV000055133
Neuroblastoma	other	rs45517289	RCV000505679
Neurodevelopmental delay	Conflicting classifications of pathogenicity	rs878854104	RCV002243904
Nonpapillary renal cell carcinoma	Benign; not provided	rs1800720, rs397515247	RCV005890323 RCV005890371
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs1800725, rs13331451, rs753907159, rs150195368, rs759786102	RCV005911052 RCV005934685 RCV005896664 RCV005888940 RCV005901748
Recurrent fever	Uncertain significance	rs2090160412	RCV001725211
Renal cyst	Conflicting classifications of pathogenicity; Benign; Likely benign	rs368164133, rs745897413	RCV005626433 RCV005625417
Rhabdomyoma	Conflicting classifications of pathogenicity	rs1596342841	RCV005235487
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs45517185, rs35660529, rs11551373, rs45517351, rs45490792	RCV005892207 RCV005890297 RCV005890304 RCV005890318 RCV005890332
Seizure	Conflicting classifications of pathogenicity; Uncertain significance	rs878854104, rs1555498802, rs45485591	RCV002243904 RCV000678855 RCV000781951
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs1057521562, rs45517351, rs137853994	RCV005896661 RCV005890320 RCV005890330
Tuberous sclerosis and lymphangiomyomatosis	Benign; Likely benign	rs45517423	RCV000148917
Uterine carcinosarcoma	Benign	rs45517351	RCV005890319
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign; not provided	rs115599333, rs150195368, rs11551373, rs45487992, rs45445593, rs45517351, rs397515247	RCV005916353 RCV005888942 RCV005890306 RCV005890308 RCV005890311 RCV005890322 RCV005890372
Uveal melanoma	Benign	rs1800720	RCV005890325
Vascular dementia	Conflicting classifications of pathogenicity	rs45517343	RCV002051724
Vesicoureteral reflux 8	Conflicting classifications of pathogenicity	rs1219556604	RCV005863249

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Neoplasms	Associate	23867796
Adenocarcinoma	Associate	11696455, 21751195
Adenocarcinoma of Lung	Associate	32083571
Adenomatous Polyposis Coli	Associate	39519399
Alzheimer Disease	Associate	24373378
Angina Stable	Associate	30220708
Angiofibroma	Associate	32461669, 35358092, 36104799, 37141891
Angiomyolipoma	Associate	10823953, 11112665, 16192644, 17003820, 18958173, 19443708, 21949787, 22791333, 23705901, 25782670, 27494029, 27640314, 29512829, 29697822, 29764404, 30285856, 31077186, 31586081, 31597506, 31847710, 31927531, 35483879, 9529362
Appendiceal Neoplasms	Associate	33295976
Astrocytoma	Associate	14723270, 16237225, 20133820, 24917535, 25227171, 27625244, 32461669, 33051600, 37629066
Ataxia	Associate	34130600
Attention Deficit Disorder with Hyperactivity	Associate	33076974, 33225634
Autism Spectrum Disorder	Associate	22558107, 30201051, 31591157, 33076974, 36750796, 37880800
Autistic Disorder	Associate	21345208, 22558107, 24698169, 25160545
Basal Ganglia Diseases	Associate	23524469
Beta ketothiolase deficiency	Associate	23851963
Birt Hogg Dube Syndrome	Associate	27871249
Blindness	Associate	30220708
Brain Damage Chronic	Associate	32873234
Brain Diseases	Associate	27406250, 34130600
Brain Neoplasms	Associate	35947627, 37423059
Breast Neoplasms	Associate	16648488, 26577839, 28027327, 31704974, 32811538, 35732329, 37144254
Breast Neoplasms	Inhibit	20658316, 26167915
Bronchopulmonary Dysplasia	Associate	34057840
Calcinosis Cutis	Associate	15583138, 32811538
Capillary Malformation Arteriovenous Malformation	Associate	19912235
Carcinogenesis	Associate	20133820, 24690483
Carcinoid Tumor	Associate	38237798
Carcinoma Hepatocellular	Associate	30373752, 31063779, 33929972, 34211467, 35998012, 36806581, 37769223
Carcinoma Merkel Cell	Associate	36602798
Carcinoma Non Small Cell Lung	Associate	20008839, 24593867, 29642873, 30585697, 34985374
Carcinoma Renal Cell	Associate	20304964, 24797175, 25432535, 26626617, 27640314, 27682873, 29572283, 29610387, 29659200, 29941307, 29975249, 30303819, 31098421, 32616874, 34229737, 36510186
Carcinoma Squamous Cell	Associate	30585697
Central Nervous System Vascular Malformations	Associate	32502382
Cerebellar Diseases	Associate	28786492, 29572283, 9006320
Chediak Higashi Syndrome	Associate	34130600
Chordoma	Associate	19401700, 21266383
Chromosome Deletion	Associate	18818683, 22169896, 33485185, 34860161, 38411894, 40170159
Chromosome Disorders	Associate	18818683, 23738537, 26077033, 27595512, 31176519, 37294265
Chromosome Disorders	Inhibit	31870441
Chronobiology Disorders	Associate	31591157
Clear cell metastatic renal cell carcinoma	Associate	26831717, 31389395
Cognition Disorders	Associate	24304436, 25498131
Colorectal Neoplasms	Associate	20622004, 36572026
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19893037, 34130600
Craniocerebral Trauma	Associate	11112665
Cysts	Associate	17003820, 27640314, 32461669
Cytomegalovirus Infections	Associate	18407068
Death Sudden	Associate	37995443
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	27682873
Demyelinating Diseases	Associate	23524469
Dental Plaque	Associate	32218621
Developmental Disabilities	Associate	31005478, 32461669, 37088138, 37629066, 39510572
Diabetes Mellitus	Inhibit	24797175
Diabetes Mellitus	Associate	35288456
Diabetic Nephropathies	Associate	24797175
Drug Related Side Effects and Adverse Reactions	Associate	35962345
Drug Resistant Epilepsy	Associate	32461669, 39383590
Dysplastic Nevus Syndrome	Associate	30127391
Ehlers Danlos Syndrome Type IV	Associate	37800821
Endometrial Hyperplasia	Associate	11696455
Ependymoma	Associate	18350576
Epilepsies Partial	Associate	24917535, 30220708, 30911571
Epilepsy	Associate	20041940, 24075384, 24304436, 24698169, 25498131, 28074849, 28892148, 29056246, 29929111, 31525612, 31591157, 31761686, 32218621, 32313033, 33748956, 34252879, 34258938, 34417327, 37995443, 39383590, 39510572, 40126049
Esophageal Squamous Cell Carcinoma	Associate	32308763, 35121801
Facial Neoplasms	Associate	35358092
Familial renal cell carcinoma	Associate	29659200
Fanconi Anemia	Associate	28423363
Fatty Liver	Associate	35288456
Fetal Diseases	Associate	32871942, 34480426
Fibrolamellar hepatocellular carcinoma	Inhibit	24925055
Fibrosis	Associate	23705901, 25149531
Focal Cortical Dysplasia	Associate	19175396, 9006320
Focal cortical dysplasia of Taylor	Associate	18368626, 36342087
Fractures Spontaneous	Associate	27406250
Frontotemporal Dementia	Associate	34130600
Gallbladder Neoplasms	Associate	24508317
Gastro enteropancreatic neuroendocrine tumor	Associate	32883742
Gastroesophageal Reflux	Associate	21751195
Gaucher Disease	Associate	34130600
Genee Wiedemann syndrome	Associate	22169896
Genetic Diseases Inborn	Associate	24714658
Genetic Diseases Inborn	Stimulate	40170159
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glioblastoma	Associate	16740698
Gliosis	Associate	18226172
Glycogen Storage Disease	Associate	34130600
Hamartoma	Associate	11468687, 11710839, 18292222, 28968464
Hamartoma Syndrome Multiple	Associate	29684080
Head and Neck Neoplasms	Associate	16412252
Hemangioblastoma	Associate	36510186
Hemimegalencephaly	Associate	16196383, 31444548
Hemorrhage	Associate	29308833
Hereditary leiomyomatosis and renal cell cancer	Associate	15467714, 16084893
Heredodegenerative Disorders Nervous System	Associate	37878632
Histiocytosis Langerhans Cell	Associate	35231481
Huntington Disease	Associate	34130600
Hyperplasia	Associate	20526286
Hyperthyroidism	Associate	37876543
Hypertrophy	Associate	22879939
Hypoxia	Associate	16648488, 28115701
Hypoxia Brain	Associate	26762835, 31083211
Insulin Resistance	Associate	15380067
Intellectual Disability	Associate	22189265, 24917535, 30201051, 31005478, 31077186, 31591157, 32216820, 32313033, 33278787, 37880800
KBG syndrome	Associate	38253421
Kidney Diseases	Associate	11112665, 12192641, 36581342
Kidney Failure Chronic	Associate	25519866
Kidney Neoplasms	Associate	23038766, 24797175, 25149531, 25432535, 27640314, 28787086, 32251007, 36581342
Laryngeal Neoplasms	Associate	32791689
Learning Disabilities	Associate	16700943, 30201051
Leiomyoma	Stimulate	21145542
Leukemia	Associate	32037392
Leukemia Myeloid Acute	Associate	25149531, 25476905, 32037392, 33375770, 39650664
Leukoencephalopathies	Associate	30581017
Lip Hamartomatous	Associate	22301052
Lung Diseases	Associate	17114346, 19596836, 23867796, 27871249
Lung Neoplasms	Associate	22693540, 24593867, 30008631
Lymphangioleiomyomatosis	Associate	10823953, 12045200, 12547707, 15583138, 16388022, 16424383, 16575396, 17114346, 17878649, 19155472, 19443708, 19596836, 19893037, 20630348, 20639436, 21036916, 21128782, 23555865, 23867796, 23983265, 24051985, 24606538, 25411763, 25476905, 26167915, 27016587, 27171001, 27494029, 28410230, 28643793, 30922357, 31034819, 31856217, 31878201, 32603599, 33922083, 34936509, 35181635, 35231481, 35483879, 36117164, 36543771, 9529362
Lymphangioleiomyomatosis	Inhibit	35806041
Lymphatic Diseases	Associate	23867796
Macules hereditary congenital hypopigmented and hyperpigmented	Associate	27918305, 31525612, 32461669
Malformations of Cortical Development	Associate	36226386
Malignant mesenchymal tumor	Associate	32889887
Melanoma	Associate	36715448
Mental Disorders	Associate	27216612, 29196670, 36232477
Metrorrhagia	Associate	29308833
Multiple Organ Failure	Associate	37271041
Multiple Pulmonary Nodules	Associate	35292049
Muscular dystrophy congenital with central nervous system involvement	Associate	32313033
Neoplasm Metastasis	Inhibit	26167915
Neoplasm Metastasis	Associate	29486199, 33722295, 37232011
Neoplasms	Inhibit	12045200, 12468542, 12842888, 12867426, 12906785, 15066998, 15340059, 15380067, 15728574, 16388022, 16424383, 16636147, 17114346, 17622239, 18298802, 18974095, 19349254, 19917848, 20169078, 20304964, 20433884, 20671064, 21036916, 21128782, 22301052, 22685542, 23341583, 23857276, 23867796, 24051985, 24271014, 24593867, 24690483, 27493206, 29127155, 30842342, 32849516, 36581342, 39596632, 7608212
Neoplasms	Associate	12547707, 16237225, 16412252, 18397877, 18538015, 19596836, 20706560, 23022476, 24345884, 24714658, 25295501, 25432535, 26374334, 26577839, 26893383, 27255162, 27682873, 27871249, 28659645, 29642139, 29659200, 29684080, 29764404, 30285856, 30303819, 30508944, 31039793, 31077186, 31665227, 31878201, 32624572, 33352201, 33727259, 34155195, 34561551, 34637337, 35231481, 35947627, 36117164, 36510186, 36602798, 36715448, 37041531, 37086484, 9006320
Neoplasms Cystic Mucinous and Serous	Associate	31098421
Neoplasms Glandular and Epithelial	Associate	35483879
Neoplastic Syndromes Hereditary	Associate	27682873
Nervous System Diseases	Associate	22791573
Nervous System Malformations	Associate	28344003
Neurocutaneous Syndromes	Associate	37088138
Neurodegenerative Diseases	Associate	34130600
Neurodevelopmental Disorders	Associate	31921404
Neuroendocrine Tumors	Associate	25110431, 25210493, 27994516, 39447548
Neurofibromatosis 1	Associate	29973652
Neurologic Manifestations	Associate	27857203, 28344003, 30201051, 31591157
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Neurotoxicity Syndromes	Associate	27860187
Niemann Pick Disease Type A	Associate	34130600
Night blindness congenital stationary	Associate	29449635
Non functioning pancreatic endocrine tumor	Associate	19917848
Obesity	Associate	35288456, 38483608
Obsessive Compulsive Disorder	Associate	39383590
Oculocutaneous albinism type 2	Associate	28786492
Odontogenic Cyst Calcifying	Associate	27406250
Osteoarthritis	Associate	30184535
Ovarian Neoplasms	Associate	25151963, 33560870, 39456660
Pancreatic Neoplasms	Associate	28591720, 31160355, 34880877
Paraganglioma	Associate	31410193
Parathyroid Neoplasms	Associate	30373905
Parkinson Disease	Associate	33504893, 34130600
Pediatric acute onset neuropsychiatric syndrome	Associate	30201051
Perivascular Epithelioid Cell Neoplasms	Associate	20048174, 27871249, 30285856, 33180365, 33727259, 34561551, 35483879, 36360169, 36367123, 37041531
Pheochromocytoma	Associate	31410193
Phobia Social	Associate	33225634
Pigmentation Disorders	Associate	27918305, 37212043
Pneumothorax	Associate	27229674, 36117164, 37800821
Polycystic Kidney Autosomal Dominant	Associate	18818683, 24495558, 27595512, 28978585, 31488014, 31870441, 36422197, 36581342, 40170159, 9382094
Polycystic Kidney Autosomal Dominant	Inhibit	25519866
Polycystic Kidney Diseases	Associate	22169896, 31176519, 33485185
Primary Ovarian Insufficiency	Associate	36229297
Prostatic Neoplasms	Associate	26374334
Psychotic Disorders	Associate	39383590
Renal Insufficiency Chronic	Associate	23738537, 36422197
Retinitis	Associate	36719021
Rhabdomyoma	Associate	16877242, 24075384, 29877000, 34480426, 37629066
Sarcoma	Associate	29801054, 34561551, 37536918
Sarcoma Endometrial Stromal	Associate	34561551
Schwannomatosis	Associate	32281771
Seizures	Associate	24304436, 24698169, 24917535, 31005478, 32461669, 33011641, 33225634, 39510572, 9989450
Self Mutilation	Associate	30201051
Skin Diseases	Associate	35358092, 36232477
Skin Neoplasms	Associate	35947627
Spasm	Associate	34252879
Spasms Infantile	Associate	18801034, 20041940, 24917535, 25498131, 36279597, 37629066
Squamous Cell Carcinoma of Head and Neck	Associate	18538015, 30046007
Status Epilepticus	Associate	31083211, 33278787
Stress Disorders Post Traumatic	Associate	39383590
Sudden Infant Death	Associate	37995443
talaromycosis	Associate	34057840
Tauopathies	Associate	36469115
Thymoma	Associate	37749819
Thymus Neoplasms	Associate	37749819
Thyroid Carcinoma Anaplastic	Associate	28489587, 30758123
Thyroid Neoplasms	Associate	32737449, 34229737
Thyroid Nodule	Associate	31525612
Tooth Loss	Associate	23337002
Tourette Syndrome	Associate	28978585
Tuberculosis Pulmonary	Associate	37493735
Tuberous Sclerosis	Associate	10227394, 10340649, 11068191, 11112665, 11468687, 11583980, 11710839, 12192641, 12235314, 12271141, 12867426, 15150271, 15340059, 15380067, 16192644, 16624901, 16700943, 16877242, 16981987, 17114346, 17592551, 18060739, 18226172, 18292222, 18302728, 18350576, 18547304, 18772611, 18854862, 19133941, 19259131, 19443708, 19912235, 20133820, 20383465, 20498439, 20547222, 20639436, 20671064, 21266383, 21268779, 21345208, 22169896, 22189265, 22707510, 22791333, 22791573, 22927055, 22974335, 23337002, 23660529, 23661441, 23857276, 24075384, 24271014, 24304436, 24495558, 24512506, 24558502, 24714658, 24884933, 24917535, 25160545, 25432535, 25498131, 25519866, 25782670, 25927202, 26077033, 26374334, 26540169, 26703369, 26893383, 27216612, 27406250, 27493206, 27640314, 28087349, 28344003, 28659645, 28786492, 28892148, 28968464, 28973543, 28978585, 28993242, 29196670, 29308833, 29314583, 29449635, 29540858, 29572283, 29659200, 29843636, 30127391, 30185235, 30190613, 30236073, 30298907, 30581017, 30872599, 31005478, 31083211, 31160751, 31317616, 31488014, 31525612, 31591157, 31655562, 31761686, 31870441, 32218621, 32313033, 32383331, 32461669, 32502382, 32555378, 32807195, 32849516, 32871942, 32873234, 32917147, 32954437, 33011641, 33076974, 33225634, 33485185, 33773987, 33972524, 34059113, 34145886, 34229737, 34328706, 34344650, 34348978, 34399110, 34417327, 34480426, 34709498, 34860161, 35060563, 35358092, 35366331, 35483879, 35947627, 36142537, 36229297, 36232477, 36469115, 37031967, 37141891, 37271041, 37294265, 37356622, 37629066, 37880800, 38217425, 38412945, 39383590, 39510572, 39596632, 39762914, 40225170, 40226305, 7608212, 7837252, 8755927, 8825048, 8943076, 8950679, 9006320, 9382094, 9529362, 9863590, 9989450
Tuberous Sclerosis	Inhibit	12582162, 12906785, 16575396, 18368626, 23705901, 24606538, 27918305, 31834371, 36581342, 37946245
Tuberous Sclerosis	Stimulate	22301052
Tuberous Sclerosis 1	Associate	11068191, 22301052, 25149531, 30201051, 30872599, 31034819, 31927531, 35358092, 38253421
Tuberous Sclerosis 2	Associate	8828041
Urethral Neoplasms	Associate	21533174
Uterine Neoplasms	Associate	33727259