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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7249
Gene name Gene Name - the full gene name approved by the HGNC.	TSC complex subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TSC2
Synonyms (NCBI Gene) Gene synonyms aliases	LAM, PPP1R160, TSC4
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Show/Hide all(7)

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

Show/Hide all(1)

Transcription factor	Regulation	Reference
AR	Repression	21036700

Show/Hide all(65)

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

MIM	HGNC	e!Ensembl
191092	12363	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

Interactions

View interactions

	KEGG		Reactome
	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		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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type II	rs45517222, rs1060500972, rs397514939, rs397514897, rs45517329, rs45516293	N/A
lymphangiomyomatosis	Lymphangiomyomatosis	rs397515287, rs137854157, rs45517213, rs45517132, rs397515023, rs45517403, rs45517148, rs45514095, rs45517179, rs45517205, rs137854360, rs28934872, rs137854210, rs45483392, rs137854320, rs45517169, rs397514941, rs45517299 View all (3 more)	N/A
Tuberous Sclerosis	Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 1	rs137854113, rs137854327, rs1567386603, rs137854302, rs137854216, rs45517214, rs397514929, rs45503995, rs45517334, rs397515203, rs45517232, rs45517386, rs1555501373, rs137854328, rs397515082 View all (538 more)	N/A
Mental retardation	intellectual disability	rs137854128	N/A
neoplasm	Neoplasm	rs45446594, rs45481400	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Acute Myeloid Leukemia	Acute myeloid leukemia	Reduced expression levels of LZTR1, NF1, TSC1, and TSC2 correlate with reduced sensitivity to sorafenib in samples from patients with acute myeloid leukemia and deficiency results in hyperactivation of MAPK or MTOR pathways in acute myeloid leukemia cells	33375770	CBGDA
autism spectrum disorder	Autism spectrum disorder	N/A	N/A	ClinVar
Brain Neoplasms	Neoplasm of brain	N/A	N/A	ClinVar
Hirschsprung Disease	Hirschsprung disease, susceptibility to, 1	N/A	N/A	ClinVar
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Neuroblastoma	neuroblastoma	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
seizure	Seizure	N/A	N/A	ClinVar
vascular dementia	Vascular dementia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (204)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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 View all (8 more)
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 View all (1 more)
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 View all (7 more)
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 View all (28 more)
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 View all (25 more)
Neoplasms	Associate	12547707, 16237225, 16412252, 18397877, 18538015, 19596836, 20706560, 23022476, 24345884, 24714658, 25295501, 25432535, 26374334, 26577839, 26893383 View all (30 more)
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 View all (160 more)
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

TSC2 (TSC complex subunit 2)