COL4A5 (collagen type IV alpha 5 chain)

Gene

• Entrez ID: 1287
• Gene name: Collagen type IV alpha 5 chain
• Gene symbol: COL4A5
• Synonyms (NCBI Gene): ASLN, ATS, ATS1, CA54
• Chromosome: X
• Chromosome location: Xq22.3
• Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the typ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5973838	C>A,G,T	Pathogenic	Intron variant
rs104886042	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886043	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886044	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886045	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886046	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886047	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs104886048	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886051	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886052	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886053	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886054	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886055	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886056	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886057	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886058	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886059	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886060	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886061	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886062	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886063	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886065	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886066	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886067	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886068	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886069	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886070	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886071	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs104886072	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886073	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886074	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886075	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886076	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886077	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886078	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886079	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886080	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886081	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs104886082	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886083	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886084	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886085	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886086	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886088	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs104886091	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886092	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886093	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886094	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs104886095	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886096	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886097	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886098	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886099	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886100	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886101	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886102	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886103	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886104	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886105	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886107	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886108	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886109	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886110	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886111	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886112	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886113	C>-,CC	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886114	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886115	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886116	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886117	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886118	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886119	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886120	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886121	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886122	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886123	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886124	G>-	Pathogenic	Splice donor variant
rs104886125	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886126	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886127	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886128	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886129	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886130	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886131	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886132	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886133	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886134	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886135	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886136	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886137	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886138	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886139	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886140	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886141	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886142	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886143	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886144	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886145	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886146	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886147	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886150	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886151	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886152	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886153	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886156	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886157	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886158	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886159	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886160	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886161	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886162	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs104886163	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886164	C>G,T	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs104886165	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886166	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886167	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886168	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886169	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886171	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886172	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886173	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886174	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886175	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886176	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104886177	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886178	T>-	Pathogenic	Splice donor variant
rs104886179	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886180	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886181	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs104886182	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886183	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886184	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886185	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886186	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886187	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886188	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886189	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs104886190	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886191	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886193	A>G	Pathogenic	Coding sequence variant, missense variant
rs104886194	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886195	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886196	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886197	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886198	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886199	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886200	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886201	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886202	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886204	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886206	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886207	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886208	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886209	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886210	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886211	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886212	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886213	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886214	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886215	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886216	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886217	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886218	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886219	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886221	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886222	C>G	Pathogenic	Coding sequence variant, stop gained
rs104886223	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886224	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886225	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104886226	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886227	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886228	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886229	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886231	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886232	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886233	A>T	Pathogenic	Coding sequence variant, stop gained
rs104886234	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886235	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs104886236	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886237	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886238	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886239	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886240	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886241	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886242	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886244	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886245	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886246	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886247	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886248	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886249	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886250	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886251	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886252	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886253	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886254	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs104886255	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104886256	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs104886257	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886258	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886259	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886260	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs104886261	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886262	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886263	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886264	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886265	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs104886266	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs104886267	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs104886268	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886269	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886272	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886273	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886274	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886275	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886276	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886277	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886279	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886280	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886281	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886282	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886283	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886284	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886286	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886287	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886288	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886289	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886290	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886291	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886292	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886293	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs104886294	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886296	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886297	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886298	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886299	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886300	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886301	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886302	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886303	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886304	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886305	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886306	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886307	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886308	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886310	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886311	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886312	G>A	Pathogenic	Splice donor variant
rs104886313	G>A	Pathogenic	Splice donor variant
rs104886314	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs104886315	G>A,T	Pathogenic, uncertain-significance	Intron variant
rs104886316	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886317	G>A	Pathogenic	Splice donor variant
rs104886318	->G	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886319	A>G	Pathogenic	Splice acceptor variant
rs104886320	AT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886321	CCCCCCAGG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs104886323	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886324	T>G	Pathogenic	Splice donor variant
rs104886325	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886326	->GGGG	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886327	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886328	->C	Pathogenic	Intron variant
rs104886329	G>A	Pathogenic	Splice acceptor variant
rs104886331	G>A	Pathogenic	Splice donor variant
rs104886332	G>T	Pathogenic	Splice acceptor variant
rs104886333	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886337	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs104886338	G>A,T	Pathogenic	Splice acceptor variant
rs104886339	G>A	Pathogenic	Splice donor variant
rs104886340	G>T	Pathogenic	Splice donor variant
rs104886341	A>C,G	Pathogenic	Intron variant
rs104886342	->CAACCAGGCTTGCCAGGGATACCTGGTAGCAAAGGAGAACCAGGTATCCCTGG	Pathogenic	Coding sequence variant, frameshift variant
rs104886343	A>C	Pathogenic	Intron variant
rs104886344	A>G	Pathogenic	Splice acceptor variant
rs104886345	C>G	Pathogenic	Intron variant
rs104886346	AAGGCCCTCCTGGGCCACCCG>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886347	T>G	Pathogenic	Splice donor variant
rs104886348	G>A	Pathogenic	Splice acceptor variant
rs104886349	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886350	G>A,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886351	->A	Pathogenic	Coding sequence variant, frameshift variant
rs104886352	A>C,G	Pathogenic	Intron variant
rs104886354	AGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886355	AGGGATCCCCGGAGCACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886356	ACCACCAGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886359	TCCTGGACTTGATGTTCCAGGACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886360	T>G	Pathogenic	Intron variant
rs104886361	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886362	->C	Pathogenic	Coding sequence variant, frameshift variant
rs104886363	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886365	G>A,T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886366	T>-	Pathogenic	Splice donor variant
rs104886367	G>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886368	->T	Pathogenic	Coding sequence variant, frameshift variant
rs104886369	GTA>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886370	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886371	G>C,T	Pathogenic	Splice donor variant
rs104886372	G>A,C,T	Pathogenic	Splice acceptor variant
rs104886373	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886374	GACCCAGGGCAACCTGGA>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs104886375	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886377	G>T	Pathogenic	Splice donor variant
rs104886378	G>A	Pathogenic	Splice acceptor variant
rs104886379	A>G	Pathogenic	Splice acceptor variant
rs104886380	->CCTG	Pathogenic	Coding sequence variant, frameshift variant
rs104886381	G>A	Pathogenic	Splice acceptor variant
rs104886382	C>G	Pathogenic	Intron variant
rs104886383	C>G	Pathogenic	Intron variant
rs104886384	G>A	Pathogenic	Splice acceptor variant
rs104886385	A>G	Pathogenic	Splice acceptor variant
rs104886387	C>A,G	Pathogenic	Intron variant
rs104886388	A>G	Pathogenic	Intron variant
rs104886389	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886390	ACCTCAAGG>-	Pathogenic	Coding sequence variant, inframe deletion, genic upstream transcript variant
rs104886391	AGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886392	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs104886393	CAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886394	->GGCA	Pathogenic	Coding sequence variant, frameshift variant
rs104886395	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886396	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886397	A>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, downstream transcript variant
rs104886403	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886405	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886409	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886413	G>A,C,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs104886414	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886416	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886420	GA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886421	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886423	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs104886424	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886426	CGCTGAAA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886429	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886430	->T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886431	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886432	->G	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886433	->C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886434	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886435	GCCCTCCTGGTCCACCAGG>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886436	TT>-	Pathogenic	Intron variant, genic upstream transcript variant
rs104886437	C>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886438	->G,GG	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886440	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886441	C>G	Pathogenic	Intron variant, genic upstream transcript variant
rs104886442	G>A,T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886443	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886444	T>G	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886445	GGGACTT>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886446	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886447	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886448	G>A	Pathogenic	5 prime UTR variant, splice acceptor variant
rs104886449	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886450	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886451	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886452	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs104886453	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs142929745	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144282156	C>A,T	Benign, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs150305490	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs183837448	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs201123438	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201220208	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874655	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874656	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874657	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874658	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874659	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874660	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874661	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874662	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874663	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874664	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874667	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874668	T>A,C	Pathogenic	Intron variant
rs281874669	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874670	G>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874671	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874672	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874673	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874674	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs281874675	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874676	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874677	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874678	TTCCTGGCCCGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874679	G>C	Pathogenic	Intron variant
rs281874680	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874681	C>T	Pathogenic	Missense variant, coding sequence variant
rs281874682	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874683	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874684	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs281874685	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874686	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874687	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs281874688	G>T	Pathogenic	Splice donor variant
rs281874689	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874690	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874691	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs281874692	G>T	Pathogenic	Coding sequence variant, stop gained
rs281874694	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874695	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874696	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874697	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874698	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874699	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874700	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874701	GTATGATGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874702	G>A,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs281874703	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs281874704	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874705	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874706	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874708	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874710	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874711	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874712	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874713	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs281874714	G>A	Pathogenic	Splice donor variant
rs281874715	G>T	Pathogenic	Splice donor variant
rs281874716	GGGTGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874717	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874719	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874720	CCCCCAGGCCCTCCTGG>T	Pathogenic	Frameshift variant, coding sequence variant
rs281874721	G>T	Pathogenic	Missense variant, coding sequence variant
rs281874722	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874723	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874724	G>A,C	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs281874725	G>A	Pathogenic	Downstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs281874727	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874728	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874729	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874731	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874732	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874733	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874734	G>C,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281874735	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874736	->TCCAGATGGATTGCAAGGTCCCCCAGGTCCCCCTGG	Pathogenic	Inframe insertion, coding sequence variant, genic downstream transcript variant
rs281874737	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874738	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs281874739	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs281874740	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874741	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874742	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874743	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874744	ATTATGTTCCTTCTCCTTTTCC>CA	Pathogenic	Intron variant, genic downstream transcript variant
rs281874745	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874746	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874747	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874748	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874749	TG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874750	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874751	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874752	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281874753	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874754	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874755	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874756	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs281874757	->AG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874758	A>G,T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs281874759	GC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874761	T>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874762	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs281874763	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874764	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874766	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874767	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874768	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874769	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs377663039	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs397515492	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397515494	->T	Pathogenic	Intron variant, genic downstream transcript variant
rs397515495	CCTCCTGG>AACCTGGACCAATGGGACCAATGGGAACAC	Pathogenic	Frameshift variant, coding sequence variant
rs397515496	G>T	Pathogenic	Missense variant, coding sequence variant
rs397515497	A>G	Pathogenic	Intron variant
rs483352870	G>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587776400	A>G	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs587776401	G>A,C	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs587776402	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587776403	G>A,C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587776404	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs606231370	->AACC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231371	->TCCT	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231372	AGATGGATTGCAAGGTCCCCCAGGTCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs606231373	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231374	CCCCATT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs753437190	G>A	Likely-pathogenic	Splice acceptor variant
rs755038747	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs759179999	A>C	Pathogenic	Splice acceptor variant
rs759512115	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs760109866	A>G	Pathogenic	Splice acceptor variant
rs767087695	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs767619131	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs770451831	G>A,T	Pathogenic	Splice acceptor variant
rs794727397	G>A	Pathogenic	Missense variant, coding sequence variant
rs797045035	G>A	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs867625069	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs867721264	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs868580411	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs869025330	A>G	Likely-pathogenic	Intron variant
rs869025331	G>A,C	Pathogenic	Splice donor variant
rs869025332	G>A	Pathogenic	Missense variant, coding sequence variant
rs869025333	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs869025334	G>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs878853015	G>A,T	Likely-pathogenic	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs878853017	AGGTCTTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853030	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853089	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs878853114	G>A	Pathogenic	Splice donor variant
rs886039886	CCCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039890	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041509	G>A,T	Pathogenic	Splice acceptor variant
rs1057516187	CC>G	Pathogenic	Frameshift variant, coding sequence variant
rs1057516203	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057518125	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057522042	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060499694	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499710	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794029	GGTTTACATGGAATA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1085307808	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691795	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131692060	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692246	A>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1170254952	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1196820381	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1210495852	G>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1291655627	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1360698598	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1437633065	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1556403086	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556403112	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556403276	GTAAG>-	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1556404027	G>C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556404985	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556405010	TA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556405916	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556405926	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556405930	G>A	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant
rs1556406001	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556406775	G>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556406859	A>G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1556407064	G>A,T	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1556407078	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1556407684	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1556407701	G>T	Pathogenic	Splice donor variant
rs1556410266	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556410516	G>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556411578	AAGGTGACA>-	Pathogenic	5 prime UTR variant, splice acceptor variant, coding sequence variant
rs1556411631	->C	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1556418210	G>A	Pathogenic	Missense variant, coding sequence variant
rs1556418287	G>A	Pathogenic	Splice donor variant
rs1556419800	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1556419831	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556419850	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556419869	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556419895	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556420349	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556420358	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556421106	GCCTGGAGACCCAGGGCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1556421731	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556439394	T>A	Pathogenic	Stop gained, coding sequence variant
rs1556445736	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs1556446493	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1556446657	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556451235	TCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAATCCAGG>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1556453243	G>T	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs1556453276	G>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant
rs1556462911	CAGATGTGCAGTATGTGAAGCTCCAGCTGTGG>-	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant, coding sequence variant
rs1556462917	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1556463583	->A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569488388	->GT	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant
rs1569488415	->CA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569488424	GTATT>ATAC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569488426	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488429	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488434	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1569488437	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569488841	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488946	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569489328	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569489339	CAAGTAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1569489341	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569489348	AGTA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1569489353	->T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569489799	C>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1569489828	->CC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569489856	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569489863	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490148	G>T	Pathogenic	Genic upstream transcript variant, intron variant
rs1569490379	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490387	T>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490446	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490465	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490592	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490603	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490635	G>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1569490913	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490932	T>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490970	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490975	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569490985	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1569491068	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs1569491075	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs1569491107	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs1569491387	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491399	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491718	G>A	Pathogenic	Splice acceptor variant
rs1569491729	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491753	G>C	Pathogenic	Splice donor variant
rs1569492113	AACATTGGGTTGCCTGGGTTGCCTGGAGAAAAAGGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569492120	->C	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569492122	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492147	ATACAGG>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569492161	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492172	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492951	G>A	Pathogenic	Splice acceptor variant
rs1569492996	ATTTCCATTCCTGGACCTCCTGGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569493051	C>G	Pathogenic	Intron variant
rs1569493132	GATATGTGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569493161	->CAAG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569493656	->G	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569493662	G>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569493679	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569493892	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569494000	->TC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569494061	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569494262	T>G	Pathogenic	Intron variant
rs1569494267	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494281	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494302	AATATAGGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569494304	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1569494322	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569494351	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569494378	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494386	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494393	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494852	A>G,T	Pathogenic	Splice acceptor variant
rs1569494882	GCCTGGCTTGCCTGGTAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569494903	GTGATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1569495038	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569495049	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1569495747	A>G	Pathogenic	Intron variant
rs1569495758	T>G	Pathogenic	Coding sequence variant, stop gained
rs1569495819	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569496997	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569497013	ATA>T	Pathogenic	Coding sequence variant, frameshift variant
rs1569497022	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569497030	T>G	Pathogenic	Splice donor variant
rs1569497679	GGTTTACATGGAATACC>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1569497680	GTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTGG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1569497690	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569497695	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569497722	CAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGCAGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569497723	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569497759	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569497776	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1569498110	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498133	GTGGTGTACCTG>T	Pathogenic	Coding sequence variant, frameshift variant
rs1569498140	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569498249	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569498254	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498258	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569498271	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1569498606	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498623	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569498624	ACCTGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569498896	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498904	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569499001	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569499010	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569499015	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569499057	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569499064	G>A	Pathogenic	Splice donor variant
rs1569504056	G>A	Pathogenic	Splice acceptor variant
rs1569504068	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569504072	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569504092	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505374	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569505385	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1569505525	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569505535	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569505604	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505613	T>A	Pathogenic	Splice donor variant
rs1569505614	A>T	Pathogenic	Intron variant
rs1569505747	TGGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505758	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569505771	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1569505800	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505812	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569506917	A>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569506954	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507398	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1569507409	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1569507535	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507550	CCTGGCCAGCCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1569507572	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507577	GG>-	Pathogenic	Coding sequence variant, splice donor variant, genic downstream transcript variant
rs1569508169	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508352	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508360	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508366	->CA	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508382	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508899	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs1569508938	CGGCTGGCAGCTGC>TTTCAT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508951	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508998	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569508999	A>C,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant
rs1569509196	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509201	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509203	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569509210	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509214	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509224	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509234	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509236	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569509257	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509301	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569509307	->G	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509315	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509333	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509336	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509352	C>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509371	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569509492	A>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509494	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1603276159	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603276180	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603278993	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603279005	T>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603279819	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603282474	G>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1603283547	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603283567	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603286154	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1603287481	->AT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603287820	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1603290097	C>G	Likely-pathogenic	Intron variant
rs1603290131	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603290148	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603290169	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603290199	CAGGGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1603290681	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603290763	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603290796	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603291770	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603292021	CTG>-	Pathogenic	Coding sequence variant, inframe indel
rs1603292081	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1603292422	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603293553	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1603293570	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603293605	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603293624	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1603293639	T>A	Pathogenic	Splice donor variant
rs1603297223	T>G	Pathogenic	Coding sequence variant, stop gained
rs1603297305	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603297334	G>T	Pathogenic	Coding sequence variant, missense variant
rs1603297903	G>C	Pathogenic	Splice donor variant
rs1603298378	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603298869	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603298993	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603306716	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603306718	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603310370	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603310380	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603311030	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603318143	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603318154	AGGA>GGG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603323174	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603323278	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603323355	T>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603323412	AA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603326397	->TTAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603326561	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603328025	CA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603328372	G>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018772	hsa-miR-335-5p	Microarray	18185580
MIRT030043	hsa-miR-26b-5p	Microarray	19088304
MIRT053738	hsa-miR-29b-3p	Microarray	22942087
MIRT450890	hsa-miR-199a-3p	PAR-CLIP	22100165
MIRT450889	hsa-miR-199b-3p	PAR-CLIP	22100165
MIRT450888	hsa-miR-3129-5p	PAR-CLIP	22100165
MIRT450887	hsa-miR-802	PAR-CLIP	22100165
MIRT450886	hsa-miR-936	PAR-CLIP	22100165
MIRT450885	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT450884	hsa-miR-4264	PAR-CLIP	22100165
MIRT450883	hsa-miR-3171	PAR-CLIP	22100165
MIRT450882	hsa-miR-222-5p	PAR-CLIP	22100165
MIRT450890	hsa-miR-199a-3p	PAR-CLIP	22100165
MIRT450889	hsa-miR-199b-3p	PAR-CLIP	22100165
MIRT450888	hsa-miR-3129-5p	PAR-CLIP	22100165
MIRT450887	hsa-miR-802	PAR-CLIP	22100165
MIRT450886	hsa-miR-936	PAR-CLIP	22100165
MIRT450885	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT450884	hsa-miR-4264	PAR-CLIP	22100165
MIRT450883	hsa-miR-3171	PAR-CLIP	22100165
MIRT450882	hsa-miR-222-5p	PAR-CLIP	22100165
MIRT902948	hsa-let-7a	CLIP-seq
MIRT902949	hsa-let-7b	CLIP-seq
MIRT902950	hsa-let-7c	CLIP-seq
MIRT902951	hsa-let-7d	CLIP-seq
MIRT902952	hsa-let-7e	CLIP-seq
MIRT902953	hsa-let-7f	CLIP-seq
MIRT902954	hsa-let-7g	CLIP-seq
MIRT902955	hsa-let-7i	CLIP-seq
MIRT902956	hsa-miR-1270	CLIP-seq
MIRT902957	hsa-miR-202	CLIP-seq
MIRT902958	hsa-miR-2110	CLIP-seq
MIRT902959	hsa-miR-29a	CLIP-seq
MIRT902960	hsa-miR-29b	CLIP-seq
MIRT902961	hsa-miR-29c	CLIP-seq
MIRT902962	hsa-miR-3144-5p	CLIP-seq
MIRT902963	hsa-miR-3150a-3p	CLIP-seq
MIRT902964	hsa-miR-3191	CLIP-seq
MIRT902965	hsa-miR-3653	CLIP-seq
MIRT902966	hsa-miR-3923	CLIP-seq
MIRT902967	hsa-miR-4259	CLIP-seq
MIRT902968	hsa-miR-4310	CLIP-seq
MIRT902969	hsa-miR-432	CLIP-seq
MIRT902970	hsa-miR-4427	CLIP-seq
MIRT902971	hsa-miR-4434	CLIP-seq
MIRT902972	hsa-miR-4452	CLIP-seq
MIRT902973	hsa-miR-4458	CLIP-seq
MIRT902974	hsa-miR-4500	CLIP-seq
MIRT902975	hsa-miR-4516	CLIP-seq
MIRT902976	hsa-miR-4531	CLIP-seq
MIRT902977	hsa-miR-4652-5p	CLIP-seq
MIRT902978	hsa-miR-4663	CLIP-seq
MIRT902979	hsa-miR-4668-5p	CLIP-seq
MIRT902980	hsa-miR-4680-3p	CLIP-seq
MIRT902981	hsa-miR-561	CLIP-seq
MIRT902982	hsa-miR-600	CLIP-seq
MIRT902983	hsa-miR-620	CLIP-seq
MIRT902984	hsa-miR-628-5p	CLIP-seq
MIRT902985	hsa-miR-767-5p	CLIP-seq
MIRT902986	hsa-miR-98	CLIP-seq
MIRT902987	hsa-miR-371b-5p	CLIP-seq
MIRT902988	hsa-miR-4681	CLIP-seq
MIRT902989	hsa-miR-4698	CLIP-seq
MIRT902990	hsa-miR-548a-3p	CLIP-seq
MIRT902991	hsa-miR-548e	CLIP-seq
MIRT902992	hsa-miR-548f	CLIP-seq
MIRT902993	hsa-miR-888	CLIP-seq
MIRT1967763	hsa-miR-2467-3p	CLIP-seq
MIRT1967764	hsa-miR-3159	CLIP-seq
MIRT902967	hsa-miR-4259	CLIP-seq
MIRT1967765	hsa-miR-4418	CLIP-seq
MIRT1967766	hsa-miR-4717-5p	CLIP-seq
MIRT1967767	hsa-miR-509-3-5p	CLIP-seq
MIRT1967768	hsa-miR-509-5p	CLIP-seq
MIRT902981	hsa-miR-561	CLIP-seq
MIRT902958	hsa-miR-2110	CLIP-seq
MIRT902959	hsa-miR-29a	CLIP-seq
MIRT902960	hsa-miR-29b	CLIP-seq
MIRT902961	hsa-miR-29c	CLIP-seq
MIRT902962	hsa-miR-3144-5p	CLIP-seq
MIRT902963	hsa-miR-3150a-3p	CLIP-seq
MIRT902964	hsa-miR-3191	CLIP-seq
MIRT902967	hsa-miR-4259	CLIP-seq
MIRT902977	hsa-miR-4652-5p	CLIP-seq
MIRT902981	hsa-miR-561	CLIP-seq
MIRT902985	hsa-miR-767-5p	CLIP-seq
MIRT2506624	hsa-miR-1323	CLIP-seq
MIRT902987	hsa-miR-371b-5p	CLIP-seq
MIRT902972	hsa-miR-4452	CLIP-seq
MIRT2506625	hsa-miR-4522	CLIP-seq
MIRT902988	hsa-miR-4681	CLIP-seq
MIRT902989	hsa-miR-4698	CLIP-seq
MIRT2506626	hsa-miR-4753-3p	CLIP-seq
MIRT902990	hsa-miR-548a-3p	CLIP-seq
MIRT2506627	hsa-miR-548c-3p	CLIP-seq
MIRT902991	hsa-miR-548e	CLIP-seq
MIRT902992	hsa-miR-548f	CLIP-seq
MIRT2506628	hsa-miR-548o	CLIP-seq
MIRT2506629	hsa-miR-582-3p	CLIP-seq
MIRT902993	hsa-miR-888	CLIP-seq
MIRT2506630	hsa-miR-942	CLIP-seq
MIRT2678416	hsa-miR-1285	CLIP-seq
MIRT2506624	hsa-miR-1323	CLIP-seq
MIRT2678417	hsa-miR-3187-5p	CLIP-seq
MIRT902987	hsa-miR-371b-5p	CLIP-seq
MIRT2678418	hsa-miR-410	CLIP-seq
MIRT902972	hsa-miR-4452	CLIP-seq
MIRT2506625	hsa-miR-4522	CLIP-seq
MIRT902988	hsa-miR-4681	CLIP-seq
MIRT902989	hsa-miR-4698	CLIP-seq
MIRT2678419	hsa-miR-4699-3p	CLIP-seq
MIRT2506626	hsa-miR-4753-3p	CLIP-seq
MIRT2678420	hsa-miR-4775	CLIP-seq
MIRT2678421	hsa-miR-513a-3p	CLIP-seq
MIRT902990	hsa-miR-548a-3p	CLIP-seq
MIRT2506627	hsa-miR-548c-3p	CLIP-seq
MIRT902991	hsa-miR-548e	CLIP-seq
MIRT902992	hsa-miR-548f	CLIP-seq
MIRT2506628	hsa-miR-548o	CLIP-seq
MIRT2506629	hsa-miR-582-3p	CLIP-seq
MIRT2678422	hsa-miR-590-3p	CLIP-seq
MIRT2678423	hsa-miR-612	CLIP-seq
MIRT902993	hsa-miR-888	CLIP-seq
MIRT2506630	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005587	Component	Collagen type IV trimer	IBA
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005587	Component	Collagen type IV trimer	TAS	2349482
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28675934
GO:0031012	Component	Extracellular matrix	HDA	28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA

Other IDs

• MIM: 303630
• HGNC: 2207
• e!Ensembl: ENSG00000188153

Protein

• UniProt ID: P29400
• Protein name: Collagen alpha-5(IV) chain
• Protein function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
• PDB: 5NAZ, 6WKU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	33 → 118	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	81 → 164	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	165 → 223	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	283 → 352	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	391 → 449	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	491 → 550	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	598 → 659	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	659 → 706	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	706 → 766	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	754 → 818	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	796 → 854	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	854 → 909	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	896 → 958	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	960 → 1019	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1013 → 1072	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1074 → 1133	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1128 → 1189	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1190 → 1248	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1246 → 1315	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1400 → 1460	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1462 → 1569	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1572 → 1683	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is found in kidney.
• Sequence:

  MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPG
  LPGFPGPEGPPGPRGQKGDDGIPGPPGPKGIRGPPGLPGFPGTPGLPGMPGHDGAPGPQG
  IPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
  IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGP
  PGQISEQKRPIDVEFQKGDQGLPGDRGPPGPPGIRGPPGPPGGEKGEKGEQGEPGKRGKP
  GKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
  IGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPG
  PPGLDGQPGAPGLPGPPGPAGPHIPPSDEICEPGPPGPPGSPGDKGLQGEQGVKGDKGDT
  CFNCIGTGISGPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGF
  PGSKGEPGDILTFPGMKGDKGELGSPGAPGLPGLPGTPGQDGLPGLPGPKGEPGGITFKG
  ERGPPGNPGLPGLPGNIGPMGPPGFGPPGPVGEKGIQGVAGNPGQPGIPGPKGDPGQTIT
  QPGKPGLPGNPGRDGDVGLPGDPGLPGQPGLPGIPGSKGEPGIPGIGLPGPPGPKGFPGI
  PGPPGAPGTPGRIGLEGPPGPPGFPGPKGEPGFALPGPPGPPGLPGFKGALGPKGDRGFP
  GPPGPPGRTGLDGLPGPKGDVGPNGQPGPMGPPGLPGIGVQGPPGPPGIPGPIGQPGLHG
  IPGEKGDPGPPGLDVPGPPGERGSPGIPGAPGPIGPPGSPGLPGKAGASGFPGTKGEMGM
  MGPPGPPGPLGIPGRSGVPGLKGDDGLQGQPGLPGPTGEKGSKGEPGLPGPPGPMDPNLL
  GSKGEKGEPGLPGIPGVSGPKGYQGLPGDPGQPGLSGQPGLPGPPGPKGNPGLPGQPGLI
  GPPGLKGTIGDMGFPGPQGVEGPPGPSGVPGQPGSPGLPGQKGDKGDPGISSIGLPGLPG
  PKGEPGLPGYPGNPGIKGSVGDPGLPGLPGTPGAKGQPGLPGFPGTPGPPGPKGISGPPG
  NPGLPGEPGPVGGGGHPGQPGPPGEKGKPGQDGIPGPAGQKGEPGQPGFGNPGPPGLPGL
  SGQKGDGGLPGIPGNPGLPGPKGEPGFHGFPGVQGPPGPPGSPGPALEGPKGNPGPQGPP
  GRPGLPGPEGPPGLPGNGGIKGEKGNPGQPGLPGLPGLKGDQGPPGLQGNPGRPGLNGMK
  GDPGLPGVPGFPGMKGPSGVPGSAGPEGEPGLIGPPGPPGLPGPSGQSIIIKGDAGPPGI
  PGQPGLKGLPGPQGPQGLPGPTGPPGDPGRNGLPGFDGAGGRKGDPGLPGQPGTRGLDGP
  PGPDGLQGPPGPPGTSSVAHGFLITRHSQTTDAPQCPQGTLQVYEGFSLLYVQGNKRAHG
  QDLGTAGSCLRRFSTMPFMFCNINNVCNFASRNDYSYWLSTPEPMPMSMQPLKGQSIQPF
  ISRCAVCEAPAVVIAVHSQTIQIPHCPQGWDSLWIGYSFMMHTSAGAEGSGQALASPGSC
  LEEFRSAPFIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAGDLRTRISRCQV
  CMKRT

• Sequence length: 1685

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Alport syndrome	Likely pathogenic; Pathogenic	rs2147975020, rs1353480777, rs2147777495, rs2147959392, rs104886299, rs104886303, rs2524632147, rs2524632703, rs2524305677, rs104886440, rs104886071, rs104886079, rs104886101, rs281874670, rs281874673, rs104886142, rs104886189, rs104886210, rs104886247, rs104886286, rs281874753, rs1556420349, rs1569492951, rs1569494378, rs1569492161, rs1603290681, rs281874763, rs2066428351, rs104886184, rs104886199, rs2068717619, rs2066064057, rs2066189282, rs754223700, rs2066528020, rs2066542728, rs2066636714, rs2066640120, rs2066663117, rs397515496, rs1569504072, rs2068058963, rs1381117009, rs2068330799, rs2068333361, rs2068539903, rs2068571470, rs281874747	RCV002471103 RCV001795866 RCV001795869 RCV001795871 RCV001849648 RCV001195698 RCV003526645 RCV003887813 RCV003887818 RCV001328299 RCV001328292 RCV001328073 RCV001328297 RCV001328070 RCV001328298 RCV001328295 RCV001328141 RCV001563661 RCV001328190 RCV001328294 RCV003886366 RCV001328293 RCV001328077 RCV001328076 RCV000785979 RCV001328300 RCV001195700 RCV001195699 RCV001195697 RCV001328075 RCV002272433 RCV001328301 RCV001328072 RCV001328079 RCV001328140 RCV001328191 RCV001328139 RCV001328142 RCV001328065 RCV001328144 RCV001328071 RCV001328184 RCV001328296 RCV001328143 RCV001328068 RCV001328078 RCV001328193 RCV001328291	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport syndrome 1	Pathogenic	rs104886245	RCV005627439	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical hemolytic-uremic syndrome	Likely pathogenic; Pathogenic	rs104886189	RCV001328145	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Alport syndrome	Likely pathogenic; Pathogenic	rs2147849728, rs104886312, rs104886189	RCV001849658 RCV001849660 RCV001849275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic kidney disease	Pathogenic	rs1556446493	RCV000626981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL4A5-related disorder	Likely pathogenic; Pathogenic	rs2147776175, rs2147746303, rs104886338, rs104886303, rs104886308, rs2524281792, rs2524305660, rs1569499010, rs2524308688, rs750941179, rs2524162250, rs104886276, rs2524414237, rs2524235953, rs2524403948, rs2524531360, rs2524422819, rs104886214, rs2524403534, rs2524602289, rs104886407, rs104886107, rs104886101, rs104886111, rs104886142, rs104886134, rs281874697, rs104886363, rs281874713, rs104886228, rs104886382, rs1569505771, rs104886221, rs2066062676, rs104886177, rs2067108651	RCV003416299 RCV003402007 RCV003417753 RCV003398479 RCV003934823 RCV003404316 RCV003406221 RCV003427877 RCV003420861 RCV003400217 RCV003400251 RCV003400415 RCV003399909 RCV003399910 RCV003397518 RCV003391583 RCV003418919 RCV003421036 RCV004750405 RCV003897140 RCV003931473 RCV004749742 RCV003924852 RCV003421929 RCV003904857 RCV004724281 RCV004749399 RCV003395444 RCV003892109 RCV003894817 RCV003400370 RCV003409733 RCV003420207 RCV004749578 RCV003393800 RCV004749634 RCV003908483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Downslanted palpebral fissures	Pathogenic	rs1556411578	RCV000626978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elevated mean arterial pressure	Pathogenic	rs1556446493	RCV000626981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hematuria	Likely pathogenic	rs1131692060	RCV000495839	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis	Pathogenic	rs2066568818	RCV001328290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulopathy	Likely pathogenic; Pathogenic	rs104886142	RCV000414817	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs281874743	RCV001375165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematuria	Likely pathogenic; Pathogenic	rs2147806122, rs104886308, rs104886114, rs104886388, rs1057522042, rs1556411578, rs1556463583, rs1569492951	RCV006254321 RCV001328066 RCV001257274 RCV006253677 RCV006254055 RCV000626978 RCV000626982 RCV006254144	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Pathogenic	rs2147776797	RCV005925635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disorder	Likely pathogenic; Pathogenic	rs104886142	RCV000414817	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated macular dystrophy	Likely pathogenic; Pathogenic	rs104886173	RCV001199473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney damage	Pathogenic	rs1556411578	RCV000626978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Likely pathogenic; Pathogenic	rs2524616827, rs281874743	RCV002294608 RCV002293990	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs1556462917	RCV005901128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs2524403418	RCV005937398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microscopic hematuria	Likely pathogenic; Pathogenic	rs104886114, rs1556446493	RCV001257274 RCV000626981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild proteinuria	Likely pathogenic; Pathogenic	rs104886142	RCV000414817	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs104886142	RCV005888614	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs104886210, rs281874721, rs2066736944, rs1569495819	RCV001849277 RCV001849482 RCV001328067 RCV001328192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2147998807, rs2147754967, rs2147657533, rs2147953102, rs2524307697, rs2524420680, rs104886429, rs104886139, rs104886131, rs281874688, rs104886300, rs104886228, rs1569488437, rs2066062676	RCV005912646 RCV005912661 RCV005914517 RCV005925474 RCV005930289 RCV005931097 RCV005931160 RCV005924036 RCV005937670 RCV005888615 RCV005888633 RCV005901127 RCV005930179 RCV005912460	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proteinuria	Pathogenic; Likely pathogenic	rs1556411578, rs1556463583	RCV000626978 RCV000626982	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs1569497690	RCV000825506	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steroid-resistant nephrotic syndrome	Likely pathogenic	rs1196820381	RCV001003840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147657533, rs104886312, rs763538451, rs2524216449, rs2524307924, rs2524234008, rs104886338, rs1057522042, rs1291655627, rs281874734, rs2066070104, rs2067822565, rs2066435557	RCV005914518 RCV005922800 RCV005924289 RCV005931794 RCV005931983 RCV005928640 RCV005893795 RCV005897945 RCV005912225 RCV005912356 RCV005913626 RCV005909210 RCV005909291	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked Alport syndrome	Likely pathogenic; Pathogenic	rs2147770618, rs2147722151, rs267606310, rs2147776175, rs2147798012, rs2066636714, rs2147859764, rs2067110688, rs104886212, rs281874713, rs2147953060, rs2147959120, rs1327176357, rs104886073, rs104886133, rs1569494322, rs2147956419, rs2147991737, rs1569508998, rs2147998807, rs104886375, rs2147754967, rs2147759475, rs104886084, rs2147787964, rs1569493662, rs104886142, rs2147813821, rs104886161, rs2147832635, rs104886224, rs1290001124, rs2147963152, rs2147974808, rs2147991725, rs2148001657, rs2148002538, rs2147657533, rs1569488426, rs104886101, rs2147869403, rs1603298993, rs2147975121, rs2147991184, rs104886093, rs2147989449, rs2147809078, rs2147975180, rs2147998586, rs2147722497, rs2147776527, rs2147869275, rs2148003624, rs2147980448, rs2147820991, rs104886450, rs2147974770, rs2147959089, rs2147849915, rs2147788213, rs2147781020, rs2148001666, rs104886237, rs2147872358, rs2147798228, rs2147746687, rs2147798059, rs2147956337, rs2147819501, rs104886299, rs104886451, rs2147935344, rs2147809070, rs2147777425, rs104886253, rs2147810410, rs104886402, rs2147850123, rs2147746303, rs763538451, rs1603283567, rs2147722166, rs2147806122, rs2147798001, rs2147865920, rs2147865716, rs2148003771, rs2147974914, rs2147865597, rs140753501, rs2066342908, rs2147813326, rs104886059, rs2147746317, rs2147797210, rs2147753940, rs2147797143, rs2524204781, rs1556404027, rs2524375738, rs2524245595, rs2524162912, rs2524236030, rs1231112953, rs2524632575, rs2524420389, rs2524574720, rs2524652143, rs2524179769, rs2524632984, rs1057516187, rs2524332992, rs2524333149, rs2524235865, rs2524576195, rs2524652341, rs2524408618, rs2523832979, rs2524613304, rs2524216795, rs2067018186, rs2524532130, rs2524403492, rs2524395776, rs2524632295, rs2524308896, rs2524652195, rs2524254589, rs2524414626, rs2524162850, rs2524235917, rs1603323412, rs2524423431, rs2523833392, rs2524235970, rs2524617057, rs2524396617, rs2524566727, rs104886351, rs2524632451, rs2524234935, rs2524403583, rs2524576251, rs2524611865, rs2524216449, rs2524576232, rs2524299345, rs2524195963, rs2524646173, rs2524285124, rs2524628824, rs2524414663, rs2524244170, rs104886086, rs2524299320, rs775988576, rs2524576103, rs2524307924, rs1339067074, rs104886349, rs2066140289, rs2524602187, rs2524419875, rs2524333227, rs2524570014, rs2524346214, rs2524646096, rs2524225282, rs1556462917, rs797045035, rs2524616299, rs281874715, rs2524562354, rs2524414327, rs2068329229, rs2524328853, rs2524162428, rs2524179813, rs869025333, rs869025334, rs104886338, rs869025331, rs869025332, rs878853089, rs878853114, rs2524420036, rs587776401, rs2524325219, rs2066899099, rs104886127, rs281874674, rs2524234179, rs2524562444, rs104886229, rs104886121, rs104886091, rs104886043, rs104886303, rs104886308, rs886039890, rs886039886, rs2524082011, rs2147991488, rs2066069145, rs2524236373, rs2524254479, rs104886138, rs2524420680, rs2524581638, rs2524414414, rs759512115, rs2523833248, rs2524532092, rs2524328643, rs1569498896, rs2524235953, rs1481434540, rs2524408721, rs104886377, rs104886446, rs2523833601, rs2524645713, rs2524395686, rs2524420445, rs2524282171, rs2524179835, rs2524244259, rs2524602272, rs2524420706, rs2524308291, rs2524632041, rs1556418287, rs2068437273, rs2524654509, rs2524325761, rs2147865884, rs2524653885, rs2524531676, rs1311482428, rs2524613345, rs2524225680, rs2524567007, rs2524567510, rs2524243984, rs104886292, rs2524403418, rs2524196982, rs2524407657, rs2524375879, rs2524267221, rs281874743, rs2524616549, rs1461391769, rs104886099, rs2524632501, rs2524254615, rs2524562788, rs104886340, rs104886176, rs104886163, rs2524209858, rs2524569936, rs2524329089, rs2067140465, rs2523832541, rs104886080, rs281874750, rs2524308059, rs2524197153, rs2524408108, rs2524207795, rs2524613087, rs2524575302, rs2524652281, rs2524196968, rs757894483, rs2524162796, rs2524260150, rs2524408042, rs2524254673, rs2524259917, rs2524332908, rs1569504056, rs1057516203, rs281874765, rs104886050, rs104886047, rs281874669, rs104886395, rs281874722, rs281874723, rs104886414, rs281874755, rs104886429, rs104886431, rs104886060, rs104886061, rs104886434, rs104886063, rs281874759, rs104886066, rs104886440, rs281874763, rs104886071, rs281874768, rs104886079, rs104886082, rs104886088, rs104886092, rs104886096, rs104886107, rs281874659, rs104886100, rs104886111, rs104886112, rs104886319, rs104886113, rs104886116, rs281874667, rs281874668, rs104886118, rs281874670, rs104886122, rs281874673, rs104886129, rs281874675, rs104886130, rs104886131, rs104886144, rs104886147, rs104886153, rs104886157, rs104886341, rs104886167, rs104886344, rs281874688, rs281874689, rs104886174, rs104886183, rs281874692, rs104886356, rs281874696, rs104886185, rs281874697, rs104886188, rs104886189, rs281874703, rs104886363, rs104886195, rs104886371, rs104886374, rs104886210, rs104886214, rs104886217, rs104886213, rs104886219, rs104886221, rs281874712, rs104886225, rs104886228, rs104886388, rs104886236, rs104886244, rs104886247, rs104886251, rs104886255, rs104886261, rs281874724, rs1556453243, rs104886269, rs587776402, rs587776403, rs104886276, rs104886279, rs281874741, rs104886413, rs104886293, rs104886287, rs104886288, rs281874747, rs104886298, rs104886302, rs281874753, rs104886306, rs1060499694, rs1060499710, rs1556451235, rs1131691795, rs1131692246, rs1556403112, rs1556404985, rs1556407064, rs281874702, rs104886282, rs1556411631, rs1556407078, rs1556453276, rs1556419850, rs281874738, rs281874761, rs281874671, rs397515496, rs1556405010, rs1556405926, rs1556406001, rs1556406859, rs1556410516, rs1556419831, rs1556419869, rs1556419895, rs1556420349, rs1556420358, rs1556439394, rs1569509234, rs1569505374, rs1569505771, rs760109866, rs104886074, rs1569489353, rs1569490592, rs1569489328, rs1569505604, rs1569507535, rs1569469409, rs1569488434, rs1569488437, rs767619131, rs104886054, rs104886443, rs1569491107, rs1569491399, rs1569491718, rs1210495852, rs1569493670, rs1569494267, rs1569494393, rs867625069, rs886041509, rs1569497776, rs104886368, rs104886372, rs104886226, rs1569505758, rs606231372, rs1569509257, rs1569509371, rs1569490379, rs1569490932, rs1569492147, rs1569494061, rs1569494304, rs1569497690, rs1569498623, rs1569505613, rs1569499015, rs1569508360, rs1569497030, rs1569504068, rs1603290169, rs1603292422, rs1603297305, rs1603310370, rs104886235, rs1603310380, rs1603323174, rs104886424, rs1603279819, rs1603293624, rs1603278993, rs1603290131, rs1603279005, rs281874684, rs1603293639, rs1603328372, rs1556446493, rs1603323278, rs104886173, rs1603276159, rs1603276180, rs1603282474, rs1603287820, rs759179999, rs1603290148, rs1603290199, rs1603290681, rs281874683, rs1603291770, rs1603292021, rs1603293553, rs1603293570, rs1603293605, rs1291655627, rs1603297334, rs1603311030, rs1603323355, rs1603326397, rs104886078, rs1603326561, rs281874734, rs1603286154, rs1603290763, rs1603290796, rs770451831, rs1603298378, rs1603298869, rs1603306716, rs1603306718, rs1603318143, rs1603318154, rs1603328025, rs2066568818, rs104886190, rs2068061224, rs750941179, rs2068718016, rs2067083148, rs2066231013, rs2066342176, rs1569494281, rs2068082287, rs2068126851, rs2068537554, rs2066011284, rs2066339336, rs2066625021, rs1569488381, rs104886199, rs2066062676, rs2066625376, rs2066227699, rs2066237678, rs2066274585, rs2066425897, rs368137679, rs104886140, rs2066627184, rs2067151490, rs2067822565, rs2068084185, rs2068332131, rs2068717187, rs2065509989, rs2065933012, rs2066070056, rs2066070104, rs2066101487, rs2068567564, rs2066011417, rs2066183255, rs2066425550, rs2066736770, rs2068130178, rs2068436110, rs2065868148, rs2066099798, rs2066188778, rs1569492122, rs2066424636, rs2066435557, rs1298839151, rs2067017511, rs2067060145, rs2067108651, rs2067109223, rs2067109423, rs756070988, rs2067151807, rs2067154422, rs2067818573, rs104886240, rs2068126785, rs2068413590, rs143778018, rs754223700, rs2066640120, rs2068097992, rs281874735	RCV001353348 RCV004577548 RCV002493915 RCV002476716 RCV005050364 RCV002493916 RCV001831347 RCV003230669 RCV002499779 RCV005040237 RCV002488195 RCV005040240 RCV003331141 RCV005040269 RCV005867012 RCV005867000 RCV002499815 RCV005040246 RCV002504648 RCV001391159 RCV001391165 RCV001391143 RCV001391163 RCV001391154 RCV001391153 RCV001391157 RCV001391149 RCV001391156 RCV001391152 RCV001391151 RCV001391167 RCV001391162 RCV001391161 RCV001391169 RCV001391158 RCV001391166 RCV001391148 RCV001535977 RCV001536000 RCV001536038 RCV001535859 RCV001535851 RCV001535920 RCV001535849 RCV001542720 RCV001542721 RCV001580376 RCV001580671 RCV001591925 RCV001730002 RCV001730027 RCV001731211 RCV001733371 RCV001780553 RCV001780554 RCV001780555 RCV001780829 RCV001808085 RCV001808173 RCV001808858 RCV001814741 RCV001823548 RCV001837585 RCV001837595 RCV001837599 RCV001837600 RCV001837603 RCV001837604 RCV001843392 RCV002506864 RCV002507678 RCV002490269 RCV002506928 RCV002498077 RCV005401886 RCV002479634 RCV005253995 RCV002503623 RCV005042639 RCV002497810 RCV002486669 RCV002283571 RCV005042702 RCV005040414 RCV005042648 RCV002497891 RCV002497890 RCV003388616 RCV006249803 RCV002479812 RCV002074470 RCV005042750 RCV002249382 RCV002249383 RCV002250924 RCV002255231 RCV002272583 RCV002274274 RCV002274279 RCV002280378 RCV002283625 RCV002283775 RCV002283942 RCV002287208 RCV002290296 RCV002293267 RCV002293276 RCV003484548 RCV002306281 RCV002306499 RCV002306517 RCV002306613 RCV002306778 RCV002309585 RCV002309631 RCV002309662 RCV002309694 RCV002309710 RCV002309804 RCV002309914 RCV002310014 RCV002310049 RCV002310054 RCV002307918 RCV002307938 RCV002307943 RCV002307972 RCV002308050 RCV002308163 RCV002308213 RCV002308238 RCV002308303 RCV002309124 RCV002309126 RCV002309293 RCV002309294 RCV002309341 RCV002309383 RCV002309471 RCV002309478 RCV002306924 RCV002306948 RCV002306965 RCV002306979 RCV002307048 RCV002307058 RCV002307141 RCV002307211 RCV002307333 RCV002310288 RCV002310338 RCV002310430 RCV002310556 RCV002308461 RCV002468690 RCV002468842 RCV002468843 RCV002468844 RCV002468845 RCV002471908 RCV006249822 RCV002470366 RCV002470453 RCV002508854 RCV005050708 RCV004594665 RCV002510417 RCV005047418 RCV004786872 RCV002795895 RCV002814360 RCV002795925 RCV004596559 RCV000191073 RCV003330109 RCV006257368 RCV003152803 RCV005050646 RCV005045157 RCV005050692 RCV003236595 RCV005254682 RCV000207631 RCV000207794 RCV000207547 RCV000207617 RCV000207888 RCV002485452 RCV002494614 RCV003142341 RCV003142372 RCV003143674 RCV003152948 RCV003153095 RCV000233994 RCV003224915 RCV003227563 RCV000011204 RCV000011208 RCV000011209 RCV000011211 RCV000011212 RCV000011213 RCV000256385 RCV000256398 RCV003236642 RCV003236662 RCV003314291 RCV003314342 RCV003314381 RCV003324611 RCV003324636 RCV003335844 RCV003340941 RCV003337949 RCV003387637 RCV003388340 RCV003389144 RCV003389290 RCV005047565 RCV003445433 RCV003447715 RCV003447723 RCV003447779 RCV004577578 RCV004577579 RCV004577580 RCV004577581 RCV004577582 RCV004577584 RCV003479760 RCV003482495 RCV003494520 RCV005047644 RCV004763705 RCV005051343 RCV005047702 RCV003985630 RCV005047779 RCV003622413 RCV003622415 RCV003989211 RCV003991182 RCV003991221 RCV003991246 RCV003991324 RCV003991347 RCV003991349 RCV003991360 RCV003992072 RCV003994650 RCV003994654 RCV003994694 RCV005254898 RCV004546874 RCV004545969 RCV004566444 RCV004566447 RCV004566448 RCV004555280 RCV004555287 RCV004555294 RCV004555316 RCV004555317 RCV004555375 RCV004555467 RCV004555474 RCV004555475 RCV004555479 RCV004555483 RCV004555484 RCV004555486 RCV004555491 RCV004555520 RCV004555730 RCV004555732 RCV004555802 RCV004577175 RCV004586339 RCV004586475 RCV004594748 RCV004594798 RCV004594814 RCV004594840 RCV004595088 RCV004595318 RCV004595349 RCV004595352 RCV004595365 RCV004595389 RCV004595391 RCV004595392 RCV000408880 RCV000408894 RCV005884458 RCV000021092 RCV005042076 RCV004594831 RCV005604034 RCV000021143 RCV005882806 RCV000021154 RCV002468840 RCV003335820 RCV003389146 RCV005048800 RCV000021169 RCV000021170 RCV002468841 RCV000021178 RCV005042077 RCV003152810 RCV000021190 RCV005042570 RCV000021203 RCV002497893 RCV000021213 RCV000021214 RCV004795935 RCV000021227 RCV000011205 RCV005048806 RCV006249356 RCV000021243 RCV001807936 RCV004594811 RCV002504817 RCV003444195 RCV000021272 RCV005252694 RCV003152907 RCV001831594 RCV005042078 RCV000021288 RCV002490400 RCV000021295 RCV004593972 RCV003236591 RCV000021311 RCV005234236 RCV000021315 RCV005041489 RCV003143665 RCV005041490 RCV006252386 RCV000021334 RCV005051342 RCV000021340 RCV000021349 RCV004690230 RCV004595388 RCV002496433 RCV004795588 RCV002476999 RCV000021382 RCV005042079 RCV004593973 RCV006258358 RCV000021406 RCV002496434 RCV005049251 RCV005040774 RCV000021420 RCV000021422 RCV000021436 RCV002283810 RCV002504818 RCV000021453 RCV002512053 RCV002288515 RCV003236663 RCV000021478 RCV001808920 RCV000021482 RCV005041527 RCV000021484 RCV000021496 RCV000021500 RCV000021509 RCV003338386 RCV002468691 RCV005049384 RCV005867790 RCV000021545 RCV005047693 RCV000021555 RCV002496435 RCV005041543 RCV004595357 RCV004595395 RCV000021593 RCV000021604 RCV002484809 RCV002484812 RCV005882508 RCV004577577 RCV000021630 RCV000021636 RCV000021640 RCV005041564 RCV002498036 RCV002468692 RCV000021659 RCV000021665 RCV002470715 RCV000449518 RCV000449531 RCV000449575 RCV000714462 RCV000495977 RCV000498275 RCV000505659 RCV000505571 RCV005049578 RCV001029967 RCV000515472 RCV002506250 RCV002476040 RCV005044768 RCV002468585 RCV002476072 RCV000625582 RCV002307528 RCV004818912 RCV000032053 RCV000032058 RCV004796430 RCV000625639 RCV000625586 RCV000625640 RCV000625688 RCV000625682 RCV000625687 RCV000625545 RCV000625695 RCV000625549 RCV000625623 RCV000625598 RCV000678966 RCV002485578 RCV000714319 RCV005046918 RCV002499206 RCV000995518 RCV002485580 RCV002499209 RCV005046920 RCV002289991 RCV002493259 RCV000714232 RCV002262191 RCV002468603 RCV005040758 RCV005042766 RCV005049669 RCV000021152 RCV000714354 RCV000021196 RCV002051997 RCV005046973 RCV005245570 RCV005049242 RCV004794719 RCV003389145 RCV005041491 RCV005870817 RCV000714360 RCV003448718 RCV000714328 RCV000021445 RCV000714397 RCV002283761 RCV005616915 RCV002471916 RCV006249477 RCV005041555 RCV000714432 RCV005880570 RCV000735739 RCV000735649 RCV000735704 RCV000735765 RCV000735701 RCV000735655 RCV000735702 RCV000735703 RCV000735647 RCV000735718 RCV001803966 RCV000760146 RCV000761226 RCV000761567 RCV000782361 RCV000785927 RCV000787005 RCV000786939 RCV000787015 RCV000787025 RCV000786956 RCV000786979 RCV000787006 RCV000789032 RCV000791325 RCV000824981 RCV000853069 RCV000853577 RCV000853587 RCV000990924 RCV000990925 RCV000990927 RCV000990928 RCV000990930 RCV002488085 RCV005047168 RCV000993763 RCV005871058 RCV000995516 RCV000995517 RCV000995519 RCV000995729 RCV000995730 RCV000995731 RCV000995732 RCV000995733 RCV000995734 RCV000995735 RCV000995736 RCV000995737 RCV000995738 RCV000995739 RCV000995740 RCV000995741 RCV000995742 RCV000995520 RCV000995521 RCV000995522 RCV000995523 RCV000995524 RCV001001195 RCV001001005 RCV001002780 RCV001029792 RCV001029966 RCV001030005 RCV001029913 RCV001029903 RCV001029936 RCV001029888 RCV001029858 RCV001029866 RCV001029852 RCV001029854 RCV001030011 RCV001029889 RCV005866761 RCV005001998 RCV001089924 RCV005047264 RCV001391142 RCV001078190 RCV001089515 RCV001089903 RCV001089921 RCV001089922 RCV001089925 RCV001089926 RCV001089927 RCV004690006 RCV001196163 RCV001198902 RCV005637625 RCV004594252 RCV004789475 RCV003398990 RCV002491816 RCV005040081 RCV001271107 RCV001281237 RCV001281238 RCV001281239 RCV001281133 RCV001281175 RCV001281176 RCV001281177 RCV001281179 RCV001281180 RCV001281181 RCV001281182 RCV001281183 RCV001281235 RCV001281134 RCV001281178 RCV001281233 RCV001281234 RCV001281236 RCV001281232 RCV001251465 RCV001251494 RCV001251478 RCV001251480 RCV001251459 RCV001252965 RCV001251469 RCV001263607 RCV001263608 RCV001263609 RCV001263610 RCV001263611 RCV001263612 RCV001263613 RCV001263614 RCV001263898 RCV001263899 RCV001263900 RCV001263901 RCV001263902 RCV001263903 RCV001263904 RCV001263905 RCV001264065 RCV001264066 RCV001264067 RCV001264068 RCV001264069 RCV001264070 RCV001264071 RCV001264072 RCV001780226 RCV005040113 RCV001280830 RCV002493513 RCV001290541	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q13.3 DELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGENIC ALPORT SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disease of glomerular basement membrane	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIOMYOMA, EPITHELIOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Phelan-McDermid syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare disease with thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unilateral deafness	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED ALPORT SYNDROME-DIFFUSE LEIOMYOMATOSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED DIFFUSE LEIOMYOMATOSIS WITH ALPORT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	15211113		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23564952, 25833149, 28593420, 28616268, 28940943		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23076555, 23486266, 24423157, 25029118, 25236981, 25550848, 25833149, 26787602, 28432617, 28940943, 29228652, 29368062, 29952952, 30352093, 30833014		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	24854265	Associate	★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	10049589, 10094548, 10200983, 10499074, 10684360, 10752524, 10862091, 11044206, 11223851, 11773466, 12105244, 12203217, 12436246, 12478350, 12796257, 1330889, 1363780, 1453602, 14582039, 1474765, 14993485, 15149316, 15524063, 15942778, 1598909, 16114791, 16133187, 1635348, 1635357, 16517570, 1672282, 1684566, 16941480, 17069596, 17277342, 17396119, 18332068, 18373399, 18616531, 19281745, 19756754, 19919694, 20186809, 20197625, 20213338, 20364839, 20386926, 20494893, 20574986, 20881942, 21455721, 21688191, 22958488, 23085274, 23144074, 2349482, 23516419, 23520119, 23732293, 24130771, 24398087, 25110662, 25307543, 25307721, 25381091, 26063487, 26168235, 26866448, 27434427, 27959966, 28013382, 28275241, 28542346, 28570636, 28827396, 28992339, 30062677, 30506145, 30968591, 31096494, 31209800, 31337345, 31490752, 31576025, 31686460, 31754267, 7485125, 7599631, 7711741, 7731166, 7816253, 7833948, 7834912, 7853788, 7993995, 8004101, 8120014, 8196274, 8225325, 8264140, 8301933, 8356449, 8406498, 8441246, 8455372, 8510391, 8599366, 8630497, 8648925, 8661006, 8738805, 8825605, 8971907, 9150741, 9195222, 9463311, 9465897, 9562604, 9621285, 9848783, 9915944		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport Syndrome	Alport Syndrome	CLINGEN_DG	10563487, 14993485, 15153557, 16301374, 23085274, 25572247, 27725546, 27796712, 28542346, 30582011		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport Syndrome	Alport Syndrome	GENOMICS_ENGLAND_DG	14514738, 29270492		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport Syndrome	Alport Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALPORT SYNDROME 1, X-LINKED	Alport Syndrome	UNIPROT_DG	10094548, 10561141, 10563487, 10684360, 10862091, 11004279, 11223851, 1352287, 1363780, 1376965, 1672282, 24522658, 7599631, 7853788, 8406498, 8651292, 8651296, 8829632, 8940267, 9150741, 9452056, 9848783		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 1, X-LINKED	Alport Syndrome	CLINVAR_DG	10094548, 10561141, 10684360, 10862091, 10955921, 11223851, 11462238, 12105244, 12436246, 15780079, 15954103, 1598909, 16941480, 17396119, 17660027, 18616531, 19693995, 19919694, 19965530, 20378821, 21143337, 21332469, 21505094, 22921432, 23085274, 23732293, 24033287, 24304881, 24337245, 24522658, 24854265, 25307721, 26168235, 26581810, 26809805, 26866448, 26934356, 27725546, 27859054, 28013382, 28570636, 7599631, 7969679, 8081393, 8648925, 8651296, 8940267, 9195222, 9848783		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 1, X-LINKED	Alport Syndrome	GENOMICS_ENGLAND_DG	14514738, 9195222		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 1, X-LINKED	Alport Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Dominant	Alport Syndrome	GENOMICS_ENGLAND_DG	14514738		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Recessive	Alport Syndrome	GENOMICS_ENGLAND_DG	14514738		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Recessive	Alport Syndrome	BEFREE	15954103		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	BEFREE	10362815, 10499074, 10561141, 10684360, 11318937, 11462238, 11473630, 11773466, 11961405, 12028435, 12436246, 12969134, 1376965, 14993485, 15149316, 15153557, 15780079, 16235097, 16338941, 16517570, 17396119, 17660027, 18332068, 18616531, 19444485, 19937058, 19965530, 20378821, 20494893, 20574986, 20951199, 21332469, 21505094, 21897443, 22350371, 22919268, 23144074, 23371956, 23714752, 23720012, 23958657, 24033287, 24337245, 24522658, 26168235, 26249550, 26581810, 26809805, 28013382, 29150092, 29198386, 29764427, 30062677, 31209800, 31481700, 31490752, 31576025, 7579094, 7731166, 7783419, 7816253, 8132760, 8196274, 8441246, 8587250, 8651296, 8807602, 8918711, 8940267, 9150741, 9457747, 9463311, 9749944		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	GENOMICS_ENGLAND_DG	14514738		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	15911703, 16338941, 16818210, 17396119, 21897443, 23144074, 24033287, 24383070, 26809805, 31724784		★☆☆☆☆ Found in Text Mining only
Anterior lenticonus	Lenticonus	BEFREE	12796257		★☆☆☆☆ Found in Text Mining only
Anterior lenticonus	Lenticonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	20494893		★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	16338941, 17396119, 21897443, 23144074, 24033287, 26809805		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18811623, 28025923, 30817038, 30961946		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	38139322	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19588543		★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	27545006		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34104083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24423157, 25236981, 25833149, 28940943, 29065153, 29952952		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33838279	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27936202	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	23714752, 31669351		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	29462306, 30704469		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12814616		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	1635348, 20881942, 28177086		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	17277342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16507901		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	1453602		★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	20208042		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	22350371		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	25110662	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Posterior Polymorphous 1	Posterior polymorphous corneal dystrophy	Pubtator	25110662	Associate	★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23967202, 34997062, 7731166	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	11686873		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28985514		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31277135	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31277135		★☆☆☆☆ Found in Text Mining only
Diffuse leiomyomatosis	Diffuse leiomyomatosis	BEFREE	10499074, 11773466, 23958657, 28275241, 8356449, 9465897, 9915944		★☆☆☆☆ Found in Text Mining only
Diffuse leiomyomatosis	Diffuse leiomyomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	32592137	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	9480748	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	19444485		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	22919268, 25110662, 29551517	Associate	★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	16235097, 24398087, 28177086		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hematuria	Hematuria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	24383070		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25840998	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	25106763		★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	30045277		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	GENOMICS_ENGLAND_DG	29270492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	31254113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	29270492		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	1474765, 20881942, 8196274		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	1474765, 20881942, 32893410, 8196274	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	32893410, 34717572, 36130833	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	8238007		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	29764427, 30691124, 33854215	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19965530, 30577881, 32842620, 34997062, 35114279, 35177655, 8651292	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29551517, 29986705, 34795337	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	11318937, 1598909, 19919694, 22919268, 25739341, 26014433, 26168235, 29551517, 30293132, 32592137, 34400539	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hematuria Benign Familial	Hematuria	Pubtator	17396119, 25355442, 29764427, 8072264	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria, Benign Familial	Hematuria	GENOMICS_ENGLAND_DG	14514738		★☆☆☆☆ Found in Text Mining only
Hematuria, Benign Familial	Hematuria	BEFREE	16235097, 17396119, 19937058, 24854265		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	8780101		★☆☆☆☆ Found in Text Mining only
Hereditary nephritis	Hereditary Nephritis	LHGDN	11462238, 11961405, 14531812, 14993485, 15149316, 15780079, 15954103, 16941480, 17277342, 17396119, 18706356, 19065523		★☆☆☆☆ Found in Text Mining only
Hereditary nephritis	Hereditary Nephritis	BEFREE	26168235, 8661006, 9150741, 9848783		★☆☆☆☆ Found in Text Mining only
High-frequency sensorineural hearing impairment	High-frequency sensorineural hearing impairment	BEFREE	17277342		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32592137	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	11686873		★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	33854215, 34930753	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	12021518		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20186809, 24039113		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	9480748	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10362815, 11773466, 1330889, 15149316, 18160688, 20197625, 20881942, 20951199, 23714752, 25307721, 25381091, 25739341, 31490752, 8587250, 9150741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	20881942, 25381091, 25739341, 29551517, 30691124, 35099770, 36100708, 37248651, 38317457, 39907758, 8072264, 8587250	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	19965530, 7706490, 8238007		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	1474765, 19919694, 20881942, 25110662, 25381091, 25739341, 29551517, 29764427, 29959198, 31144478, 32592137, 33202306, 33854215	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	1635348, 20881942, 28177086		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	23738515, 26787895, 9502408	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma, Epithelioid	Leiomyoma	CTD_human_DG	17069596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyomatosis, esophageal and vulval, with nephropathy	Leiomyosarcoma	BEFREE	1453602, 23958657		★☆☆☆☆ Found in Text Mining only
Leiomyomatosis, esophageal and vulval, with nephropathy	Leiomyosarcoma	ORPHANET_DG	20951201		★☆☆☆☆ Found in Text Mining only
Lenticonus	Lenticonus	BEFREE	19965530		★☆☆☆☆ Found in Text Mining only
Lenticonus	Lenticonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lenticonus	Lenticonus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	24423157		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	15911703		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	11686873		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	30754998		★☆☆☆☆ Found in Text Mining only
Malignant hyperthermia susceptibility type 1	Malignant hyperthermia	Pubtator	29764427	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19588543		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24423157, 25236981, 25833149, 25938344, 28940943, 29065153, 29952952		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16507901, 30800594		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37191617	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16284948, 26141216, 29065153		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	2349482, 7993995, 8238007, 8662866, 9150741		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	24130771		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	33854215, 34930753	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NON RARE IN EUROPE: Benign familial hematuria	Benign Hematuria	Orphanet			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	1376965	Associate	★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	BEFREE	24383070		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	19055661		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	11462238, 36553470	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	25739341, 26014433, 30883042, 31096494, 32592137, 33854215, 34930753	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal glomerular disease	Renal Glomerular Disease	BEFREE	20881942, 21327778, 22683419, 29198386		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	27485810		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28304180		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	12969134, 25110662, 25649157, 27485810		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	37191617	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31337345		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	38139322	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	25110662, 29986705		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31959204	Associate	★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	20951199, 21688191, 23516419, 24398087, 25381091, 26809805		★☆☆☆☆ Found in Text Mining only
Thrombophilia due to Activated Protein C Resistance	Thrombophilia	Pubtator	35177655	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24383070		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34104083	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	25106763, 30376129		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	8630497		★☆☆☆☆ Found in Text Mining only
X-linked Alport syndrome	Alport Syndrome, X-Linked	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked Alport syndrome-diffuse leiomyomatosis	Alport Syndrome, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	10499074, 14993485, 17463160, 20378821, 20494893, 20574986, 22919268, 23572034, 26014433, 26581810, 29150092, 30062677, 30128941, 30883042, 31481700, 31576025, 9749944		★☆☆☆☆ Found in Text Mining only