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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7399
Gene name Gene Name - the full gene name approved by the HGNC.	Usherin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	USH2A
Synonyms (NCBI Gene) Gene synonyms aliases	RP39, US2, USH2, dJ1111A8.1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q41
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutation

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730254	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs34713174	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs35818432	G>C	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs41302239	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs41303255	T>A	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs41303287	T>C	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs41308425	C>G	Pathogenic	Genic downstream transcript variant, splice donor variant
rs41314534	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs41315579	G>A	Likely-pathogenic, benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs45549044	C>T	Benign-likely-benign, pathogenic, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs45555435	A>C,G	Likely-pathogenic, benign	Coding sequence variant, synonymous variant, missense variant
rs55921307	G>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs55958016	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs56136489	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs73090721	G>A,T	Benign, pathogenic, benign-likely-benign	Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs75698489	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs80338902	C>A	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338903	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs80338904	T>C,G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs111033263	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs111033264	A>G	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs111033265	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs111033268	TGCCTGAATAGATC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs111033269	C>T	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs111033272	G>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs111033273	A>G	Pathogenic	Missense variant, coding sequence variant
rs111033280	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033282	G>T	Likely-pathogenic, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033333	G>A	Likely-benign, uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs111033334	G>A	Pathogenic	Coding sequence variant, stop gained
rs111033364	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs111033367	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs111033379	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained
rs111033382	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs111033385	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained
rs111033386	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained
rs111033408	CATGTTCTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs111033414	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs111033417	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs111033418	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs111033450	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs111033508	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs111033518	A>T	Likely-pathogenic, uncertain-significance, pathogenic	Genic downstream transcript variant, intron variant
rs111033525	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs111033526	C>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs112120466	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs113107803	T>C,G	Likely-benign, likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs114116572	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912598	A>C	Pathogenic	Stop gained, coding sequence variant
rs121912599	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121912600	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137954284	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs138398671	G>A	Likely-pathogenic, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs138574386	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs139474806	T>A,C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs139921272	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs140331348	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs141672841	->A	Pathogenic	Coding sequence variant, frameshift variant
rs142381713	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs142481947	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs142786231	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs143240767	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs143344549	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs143696882	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs144343161	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs145718407	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant
rs146733615	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs146824138	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146892520	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs146916397	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148000219	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs148153079	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs148660051	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs149202379	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs149506333	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs149553844	C>A,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs150230450	G>C	Likely-pathogenic, uncertain-significance, likely-benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs150264392	C>G	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs150532013	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs150807452	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs151148854	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs199605265	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs199679165	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs199782530	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs199840367	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs199982344	C>T	Likely-pathogenic	Splice acceptor variant
rs200712760	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs200871041	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs200949691	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs201238640	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs201401001	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201527662	A>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201657446	G>C	Pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant
rs201730567	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs201863550	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs202175091	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs367674026	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs368049814	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs368327746	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs368675850	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs368687374	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs368770647	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs369522997	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs370327669	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs370364142	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs371777049	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs372015149	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs372347027	T>C	Pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant
rs372927796	C>T	Likely-pathogenic	Splice acceptor variant
rs373599651	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs374536346	C>T	Pathogenic, likely-pathogenic	Intron variant
rs375499259	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs376674482	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397517963	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397517964	TT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397517973	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397517974	C>T	Pathogenic	Splice donor variant
rs397517976	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397517977	C>G,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs397517978	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs397517979	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs397517981	A>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397517982	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397517983	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397517984	T>C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs397517988	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397517989	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397517990	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397517991	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs397517994	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397518003	T>C	Pathogenic	Splice acceptor variant
rs397518023	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs397518026	A>C,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397518029	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397518036	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs397518039	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs397518041	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397518042	A>C,G	Pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs397518043	->GCTG	Pathogenic	Coding sequence variant, frameshift variant
rs397518046	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397518048	C>A,G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs398124618	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs398124619	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs483353054	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs483353056	G>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs527236118	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236119	T>C,G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236120	C>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs527236121	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs527236122	G>A,C	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236123	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs527236124	C>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236125	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236126	G>A	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236127	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236137	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236138	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs527236139	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs533700989	C>T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs534534437	G>A	Pathogenic	Stop gained, coding sequence variant
rs536593247	GT>-	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs541022183	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs577938494	T>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs587776538	->ATCG,TACG	Pathogenic	Coding sequence variant, frameshift variant
rs727503715	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs727503723	ATT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe indel
rs727503725	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs727503731	->T	Pathogenic	Coding sequence variant, frameshift variant
rs727503736	G>T	Pathogenic	Stop gained, coding sequence variant
rs727504608	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs727504867	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs727504893	C>T	Pathogenic	Stop gained, coding sequence variant
rs727505337	C>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs727505343	A>-	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs730880349	->A	Pathogenic	Stop gained, coding sequence variant
rs745350407	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs745693690	A>G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs746331566	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs746447649	CC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs746837034	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs747063294	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs747160949	AA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs748393788	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs748810737	C>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs748863844	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs748961218	C>G	Pathogenic	Splice acceptor variant
rs749228276	G>C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs749452910	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs749702843	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs749726310	A>C,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs749889050	C>G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs750228923	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs750396156	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs750418422	A>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs751035557	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs751111524	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs751176116	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs751411512	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs752377040	A>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs753330544	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs753505333	T>C,G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs753886165	T>A	Pathogenic	Genic downstream transcript variant, intron variant
rs754970095	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs757676723	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs758303489	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs758571672	C>A	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs758660532	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs759433119	C>A,T	Pathogenic	Splice donor variant
rs759494205	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs759898765	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs760225886	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs760302201	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs760858249	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs762159022	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs762388072	G>A,C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs762608746	A>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs762869685	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs763463859	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs764182950	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs764917754	CA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs765476745	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs766443785	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs766491471	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs766515318	A>C,G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs766590491	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs767078782	G>C,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs767265734	C>T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, splice acceptor variant
rs768161313	ATTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs768436928	C>T	Pathogenic	Missense variant, coding sequence variant
rs769838859	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs770383273	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs770553471	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs770984400	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs771000800	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs771051185	C>A,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs771583281	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Intron variant
rs772100045	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant
rs772124060	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs772808534	G>A	Pathogenic	Stop gained, coding sequence variant
rs773539640	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs774573692	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs774677256	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs775490668	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs776202248	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs777465132	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs777629750	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs777682016	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs777699434	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs777701725	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs778669346	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs779572631	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs779791079	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs780308389	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs780779563	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs780893919	G>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs781223647	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs781625683	TT>-,TTTTTT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs786200928	T>C	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs786205116	A>-,AA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs786205452	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs794727579	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs794727830	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs794729203	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045113	G>A	Pathogenic	Coding sequence variant, stop gained
rs863224941	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs868562952	G>A	Pathogenic	Coding sequence variant, stop gained
rs869312179	C>A	Pathogenic	Coding sequence variant, stop gained
rs869312182	G>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs869312186	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs876657730	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs876657732	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs876657733	C>T	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs878853233	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs878853407	C>A,T	Pathogenic, uncertain-significance	Splice acceptor variant, genic downstream transcript variant
rs878853408	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs878853410	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs878853413	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs878853414	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886039449	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs886041502	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886042722	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs886042766	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs898430789	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs919142559	C>A,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs924627806	T>C,G	Likely-pathogenic	Initiator codon variant, missense variant
rs944675223	T>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs970237364	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs988693758	C>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs993185407	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1003869920	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1035024403	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057517533	GGAGAAG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517844	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518826	G>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519193	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057519208	G>A,T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs1057519382	A>C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064793288	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064793289	->AA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064794034	C>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064795047	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1064795279	C>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1064797133	->TA	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064797134	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1163061829	C>A,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs1172628170	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1177257719	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1188025733	CT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1212608410	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1255535680	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1262416703	C>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1269642027	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1284826852	->A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1288381992	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs1293202153	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1295968274	A>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1301139848	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1358947010	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1359713084	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1360258103	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1362058696	A>G,T	Likely-pathogenic, pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1366496013	TA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1369414978	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1386612395	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1394737087	G>A	Pathogenic	Coding sequence variant, stop gained
rs1414935620	C>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, coding sequence variant
rs1415157305	->TGGAAAGCTGAAGACA	Pathogenic	Coding sequence variant, frameshift variant
rs1415484067	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1419157426	C>A,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1431048303	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1453306308	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1484339054	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1485173724	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553248216	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553248224	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553248234	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553248812	TAAACATTC>G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553249290	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553249294	TAGAGGT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553249311	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553249452	CGCCCTCCGTCGGTTAACACGT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553250050	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553250072	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553250077	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553250150	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553250184	G>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553250192	GT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553250416	ATTCACTGCCCAGA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553250952	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1553252041	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553252052	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553252343	A>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553252363	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553252388	AGAGTCCATGTTC>CAAG	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe indel
rs1553252389	T>GAC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553252409	CTAA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553252469	GTGGG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553252499	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553252528	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553253747	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553256576	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553256587	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553257497	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553257502	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553257685	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1553257705	GAGT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553257707	CG>AAA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553257761	C>T	Likely-pathogenic	Splice donor variant
rs1553258031	T>A	Pathogenic	Intron variant
rs1553258037	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553258076	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553258097	->GTAC	Pathogenic	Frameshift variant, coding sequence variant
rs1553258122	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553259060	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553259179	ATAAT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553261118	TTCT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553261372	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1553261387	->TA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553261476	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1553261478	C>G,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553261479	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553261898	TT>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553262411	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553263572	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1553263639	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1553265829	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553268434	TC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553268435	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553268562	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553268563	C>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, coding sequence variant
rs1553268582	AG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553268594	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553270954	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553270960	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553271001	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553271002	T>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553272035	AATA>-,AATAAATA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553272176	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553272201	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553273280	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553273330	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553273412	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553273421	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553274424	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553274435	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553274448	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553274531	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1553277866	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553281890	->AT	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553282698	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553282707	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553285919	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553285944	CCTCGTCAGT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553285970	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553287070	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1553287116	CTAAATCTAG>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant
rs1553287118	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553294144	->G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553297684	TT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553300558	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553320397	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1553320451	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553320542	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553327452	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558049084	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1558111861	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1558141330	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1558146243	C>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1558151555	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1558366840	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571623023	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1571657777	GCTCCAGG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1571657875	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1571668556	T>G	Pathogenic	Coding sequence variant, missense variant
rs1571681377	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571686349	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1571701069	CA>AT	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1571701072	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1571702193	C>A	Pathogenic	Coding sequence variant, stop gained
rs1571703770	->TG	Pathogenic	Coding sequence variant, frameshift variant
rs1571703801	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571715796	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571762632	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571774019	A>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1571783742	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1571801514	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571801564	CACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACCT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1571801788	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1571805164	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1571805235	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571876788	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1571929573	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1571945476	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1571945537	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1571947757	CTGGTTTACTATA>GTAGG	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1571948114	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1571949264	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1571949388	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571953381	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571953449	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1572020896	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1572088481	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016756	hsa-miR-335-5p	Microarray	18185580
MIRT022120	hsa-miR-124-3p	Microarray	18668037
MIRT1477231	hsa-miR-3923	CLIP-seq
MIRT1477232	hsa-miR-4459	CLIP-seq
MIRT1477233	hsa-miR-4699-3p	CLIP-seq
MIRT1477234	hsa-miR-4753-5p	CLIP-seq
MIRT1477235	hsa-miR-4779	CLIP-seq
MIRT1477236	hsa-miR-548c-3p	CLIP-seq
MIRT1477237	hsa-miR-628-3p	CLIP-seq
MIRT1477238	hsa-miR-665	CLIP-seq
MIRT1477239	hsa-miR-765	CLIP-seq
MIRT1477240	hsa-miR-1297	CLIP-seq
MIRT1477241	hsa-miR-26a	CLIP-seq
MIRT1477242	hsa-miR-26b	CLIP-seq
MIRT1477243	hsa-miR-3684	CLIP-seq
MIRT1477244	hsa-miR-4282	CLIP-seq
MIRT1477245	hsa-miR-4465	CLIP-seq
MIRT1477246	hsa-miR-513a-3p	CLIP-seq
MIRT1477247	hsa-miR-539	CLIP-seq
MIRT1921028	hsa-miR-1303	CLIP-seq
MIRT1921029	hsa-miR-3123	CLIP-seq
MIRT1921030	hsa-miR-3925-5p	CLIP-seq
MIRT1921031	hsa-miR-4540	CLIP-seq
MIRT1921032	hsa-miR-4670-3p	CLIP-seq
MIRT1921028	hsa-miR-1303	CLIP-seq
MIRT1921029	hsa-miR-3123	CLIP-seq
MIRT1921030	hsa-miR-3925-5p	CLIP-seq
MIRT1921031	hsa-miR-4540	CLIP-seq
MIRT1921032	hsa-miR-4670-3p	CLIP-seq
MIRT1921028	hsa-miR-1303	CLIP-seq
MIRT1921029	hsa-miR-3123	CLIP-seq
MIRT1921030	hsa-miR-3925-5p	CLIP-seq
MIRT1921031	hsa-miR-4540	CLIP-seq
MIRT1921032	hsa-miR-4670-3p	CLIP-seq
MIRT2143722	hsa-miR-18a	CLIP-seq
MIRT2143723	hsa-miR-18b	CLIP-seq
MIRT2143724	hsa-miR-214	CLIP-seq
MIRT2143725	hsa-miR-3619-5p	CLIP-seq
MIRT2143726	hsa-miR-4264	CLIP-seq
MIRT2143727	hsa-miR-4291	CLIP-seq
MIRT2143728	hsa-miR-4676-5p	CLIP-seq
MIRT2143729	hsa-miR-4711-5p	CLIP-seq
MIRT2143730	hsa-miR-4735-3p	CLIP-seq
MIRT2143731	hsa-miR-4761-5p	CLIP-seq
MIRT2143732	hsa-miR-4778-3p	CLIP-seq
MIRT2143733	hsa-miR-4797-3p	CLIP-seq
MIRT2143734	hsa-miR-575	CLIP-seq
MIRT2143735	hsa-miR-761	CLIP-seq
MIRT2143736	hsa-miR-922	CLIP-seq
MIRT2143737	hsa-miR-935	CLIP-seq
MIRT2364033	hsa-miR-3117-5p	CLIP-seq
MIRT2364034	hsa-miR-3140-3p	CLIP-seq
MIRT2364035	hsa-miR-514	CLIP-seq
MIRT2364036	hsa-miR-514b-3p	CLIP-seq
MIRT2364037	hsa-miR-584	CLIP-seq
MIRT1921028	hsa-miR-1303	CLIP-seq
MIRT1921029	hsa-miR-3123	CLIP-seq
MIRT1921030	hsa-miR-3925-5p	CLIP-seq
MIRT1921031	hsa-miR-4540	CLIP-seq
MIRT1921032	hsa-miR-4670-3p	CLIP-seq
MIRT2463002	hsa-miR-3662	CLIP-seq

Show/Hide all(51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0002141	Component	Stereocilia ankle link	IEA
GO:0002141	Component	Stereocilia ankle link	ISS
GO:0002142	Component	Stereocilia ankle link complex	IEA
GO:0002142	Component	Stereocilia ankle link complex	ISS
GO:0005515	Function	Protein binding	IPI	16301216, 16434480, 20440071, 23351521
GO:0005518	Function	Collagen binding	IDA	14676276
GO:0005518	Function	Collagen binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IDA	12433396
GO:0005604	Component	Basement membrane	IEA
GO:0005737	Component	Cytoplasm	IDA	16434480
GO:0005886	Component	Plasma membrane	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	10090909
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017022	Function	Myosin binding	IEA
GO:0017022	Function	Myosin binding	ISS
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0032421	Component	Stereocilium bundle	IEA
GO:0032421	Component	Stereocilium bundle	ISS
GO:0035315	Process	Hair cell differentiation	IEA
GO:0035315	Process	Hair cell differentiation	ISS
GO:0036064	Component	Ciliary basal body	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043195	Component	Terminal bouton	ISS
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045184	Process	Establishment of protein localization	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	10090909
GO:0048496	Process	Maintenance of animal organ identity	IMP	15671307
GO:0048513	Process	Animal organ development	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	10090909
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060113	Process	Inner ear receptor cell differentiation	ISS
GO:0060113	Process	Inner ear receptor cell differentiation	NAS	25406310
GO:0060171	Component	Stereocilium membrane	IEA
GO:0060171	Component	Stereocilium membrane	ISS
GO:1990075	Component	Periciliary membrane compartment	IEA
GO:1990075	Component	Periciliary membrane compartment	ISS
GO:1990696	Component	USH2 complex	IEA
GO:1990696	Component	USH2 complex	ISS

MIM	HGNC	e!Ensembl
608400	12601	ENSG00000042781

Protein

UniProt ID

O75445

Protein name

Usherin (Usher syndrome type IIa protein) (Usher syndrome type-2A protein)

Protein function

Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13385	Laminin_G_3	130 → 286		Domain
PF00055	Laminin_N	290 → 516	Laminin N-terminal (Domain VI)	Family
PF00053	Laminin_EGF	518 → 566	Laminin EGF domain	Domain
PF00053	Laminin_EGF	575 → 634	Laminin EGF domain	Domain
PF00053	Laminin_EGF	641 → 691	Laminin EGF domain	Domain
PF00053	Laminin_EGF	694 → 744	Laminin EGF domain	Domain
PF00053	Laminin_EGF	747 → 794	Laminin EGF domain	Domain
PF00053	Laminin_EGF	795 → 844	Laminin EGF domain	Domain
PF00053	Laminin_EGF	847 → 897	Laminin EGF domain	Domain
PF00053	Laminin_EGF	900 → 948	Laminin EGF domain	Domain
PF00053	Laminin_EGF	951 → 999	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1002 → 1050	Laminin EGF domain	Domain
PF00041	fn3	1147 → 1231	Fibronectin type III domain	Domain
PF00041	fn3	1243 → 1351	Fibronectin type III domain	Domain
PF00041	fn3	1367 → 1456	Fibronectin type III domain	Domain
PF02210	Laminin_G_2	1548 → 1681	Laminin G domain	Domain
PF02210	Laminin_G_2	1744 → 1871	Laminin G domain	Domain
PF00041	fn3	1956 → 2044	Fibronectin type III domain	Domain
PF00041	fn3	2437 → 2522	Fibronectin type III domain	Domain
PF00041	fn3	2534 → 2614	Fibronectin type III domain	Domain
PF00041	fn3	2628 → 2712	Fibronectin type III domain	Domain
PF00041	fn3	2725 → 2803	Fibronectin type III domain	Domain
PF00041	fn3	2927 → 3006	Fibronectin type III domain	Domain
PF00041	fn3	3592 → 3670	Fibronectin type III domain	Domain
PF00041	fn3	3776 → 3856	Fibronectin type III domain	Domain
PF00041	fn3	3969 → 4057	Fibronectin type III domain	Domain
PF00041	fn3	4159 → 4253	Fibronectin type III domain	Domain
PF00041	fn3	4357 → 4432	Fibronectin type III domain	Domain
PF00041	fn3	4533 → 4621	Fibronectin type III domain	Domain
PF00041	fn3	4827 → 4921	Fibronectin type III domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus a

Sequence

MNCPVLSLGSGFLFQVIEMLIFAYFASISLTESRGLFPRLENVGAFKKVSIVPTQAVCGL
PDRSTFCHSSAAAESIQFCTQRFCIQDCPYRSSHPTYTALFSAGLSSCITPDKNDLHPNA
HSNSASFIFGNHKSCFSSPPSPKLMASFTLAVWLKPEQQGVMCVIEKTVDGQIVFKLTIS
EKETMFYYRTVNGLQPPIKVMTLGRILVKKWIHLSVQVHQTKISFFINGVEKDHTPFNAR
TLSGSITDFASGTVQIGQSLNGLEQFVGRMQDFRLYQVALTNREILEVFSGDLLRLHAQS
HCRCPGSHPRVHPLAQRYCIPNDAGDTADNRVSRLNPEAHPLSFVNDNDVGTSWVSNVFT
NITQLNQGVTISVDLENGQYQVFYIIIQFFSPQPTEIRIQRKKENSLDWEDWQYFARNCG
AFGMKNNGDLEKPDSVNCLQLSNFTPYSRGNVTFSILTPGPNYRPGYNNFYNTPSLQEFV
KATQIRFHFHGQYYTTETAVNLRHRYYAVDEITISGRCQCHGHADNCDTTSQPYRCLCSQ
ESFTEGLHCDRCLPLYNDKPFRQGDQVYAFNCKPCQCNSHSKSCHYNISVDPFPFEHFRG
GGGVCDDCEHNTTGRNCELCKDYFFRQVGADPSAIDVCKPCDCDTVGTRNGSILCDQIGG
QCNCKRHVSGRQCNQCQNGFYNLQELDPDGCSPCNCNTSGTVDGDITCHQNSGQCKCKAN
VIGLRCDHCNFGFKFLRSFNDVGCEPCQCNLHGSVNKFCNPHSGQCECKKEAKGLQCDTC
RENFYGLDVTNCKACDCDTAGSLPGTVCNAKTGQCICKPNVEGRQCNKCLEGNFYLRQNN
SFLCLPCNCDKTGTINGSLLCNKSTGQCPCKLGVTGLRCNQCEPHRYNLTIDNFQHCQMC
ECDSLGTLPGTICDPISGQCLCVPNRQGRRCNQCQPGFYISPGNATGCLPCSCHTTGAVN
HICNSLTGQCVCQDASIAGQRCDQCKDHYFGFDPQTGRCQPCNCHLSGALNETCHLVTGQ
CFCKQFVTGSKCDACVPSASHLDVNNLLGCSKTPFQQPPPRGQVQSSSAINLSWSPPDSP
NAHWLTYSLLRDGFEIYTTEDQYPYSIQYFLDTDLLPYTKYSYYIETTNVHGSTRSVAVT
YKTKPGVPEGNLTLSYIIPIGSDSVTLTWTTLSNQSGPIEKYILSCAPLAGGQPCVSYEG
HETSATIWNLVPFAKYDFSVQACTSGGCLHSLPITVTTAQAPPQRLSPPKMQKISSTELH
VEWSPPAELNGIIIRYELYMRRLRSTKETTSEESRVFQSSGWLSPHSFVESANENALKPP
QTMTTITGLEPYTKYEFRVLAVNMAGSVSSAWVSERTGESAPVFMIPPSVFPLSSYSLNI
SWEKPADNVTRGKVVGYDINMLSEQSPQQSIPMAFSQLLHTAKSQELSYTVEGLKPYRIY
EFTITLCNSVGCVTSASGAGQTLAAAPAQLRPPLVKGINSTTIHLRWFPPEELNGPSPIY
QLERRESSLPALMTTMMKGIRFIGNGYCKFPSSTHPVNTDFTGIKASFRTKVPEGLIVFA
ASPGNQEEYFALQLKKGRLYFLFDPQGSPVEVTTTNDHGKQYSDGKWHEIIAIRHQAFGQ
ITLDGIYTGSSAILNGSTVIGDNTGVFLGGLPRSYTILRKDPEIIQKGFVGCLKDVHFMK
NYNPSAIWEPLDWQSSEEQINVYNSWEGCPASLNEGAQFLGAGFLELHPYMFHGGMNFEI
SFKFRTDQLNGLLLFVYNKDGPDFLAMELKSGILTFRLNTSLAFTQVDLLLGLSYCNGKW
NKVIIKKEGSFISASVNGLMKHASESGDQPLVVNSPVYVGGIPQELLNSYQHLCLEQGFG
GCMKDVKFTRGAVVNLASVSSGAVRVNLDGCLSTDSAVNCRGNDSILVYQGKEQSVYEGG
LQPFTEYLYRVIASHEGGSVYSDWSRGRTTGAAPQSVPTPSRVRSLNGYSIEVTWDEPVV
RGVIEKYILKAYSEDSTRPPRMPSASAEFVNTSNLTGILTGLLPFKNYAVTLTACTLAGC
TESSHALNISTPQEAPQEVQPPVAKSLPSSLLLSWNPPKKANGIITQYCLYMDGRLIYSG
SEENYIVTDLAVFTPHQFLLSACTHVGCTNSSWVLLYTAQLPPEHVDSPVLTVLDSRTIH
IQWKQPRKISGILERYVLYMSNHTHDFTIWSVIYNSTELFQDHMLQYVLPGNKYLIKLGA
CTGGGCTVSEASEALTDEDIPEGVPAPKAHSYSPDSFNVSWTEPEYPNGVITSYGLYLDG
ILIHNSSELSYRAYGFAPWSLHSFRVQACTAKGCALGPLVENRTLEAPPEGTVNVFVKTQ
GSRKAHVRWEAPFRPNGLLTHSVLFTGIFYVDPVGNNYTLLNVTKVMYSGEETNLWVLID
GLVPFTNYTVQVNISNSQGSLITDPITIAMPPGAPDGVLPPRLSSATPTSLQVVWSTPAR
NNAPGSPRYQLQMRSGDSTHGFLELFSNPSASLSYEVSDLQPYTEYMFRLVASNGFGSAH
SSWIPFMTAEDKPGPVVPPILLDVKSRMMLVTWQHPRKSNGVITHYNIYLHGRLYLRTPG
NVTNCTVMHLHPYTAYKFQVEACTSKGCSLSPESQTVWTLPGAPEGIPSPELFSDTPTSV
IISWQPPTHPNGLVENFTIERRVKGKEEVTTLVTLPRSHSMRFIDKTSALSPWTKYEYRV
LMSTLHGGTNSSAWVEVTTRPSRPAGVQPPVVTVLEPDAVQVTWKPPLIQNGDILSYEIH
MPDPHITLTNVTSAVLSQKVTHLIPFTNYSVTIVACSGGNGYLGGCTESLPTYVTTHPTV
PQNVGPLSVIPLSESYVVISWQPPSKPNGPNLRYELLRRKIQQPLASNPPEDLNRWHNIY
SGTQWLYEDKGLSRFTTYEYMLFVHNSVGFTPSREVTVTTLAGLPERGANLTASVLNHTA
IDVRWAKPTVQDLQGEVEYYTLFWSSATSNDSLKILPDVNSHVIGHLKPNTEYWIFISVF
NGVHSINSAGLHATTCDGEPQGMLPPEVVIINSTAVRVIWTSPSNPNGVVTEYSIYVNNK
LYKTGMNVPGSFILRDLSPFTIYDIQVEVCTIYACVKSNGTQITTVEDTPSDIPTPTIRG
ITSRSLQIDWVSPRKPNGIILGYDLLWKTWYPCAKTQKLVQDQSDELCKAVRCQKPESIC
GHICYSSEAKVCCNGVLYNPKPGHRCCEEKYIPFVLNSTGVCCGGRIQEAQPNHQCCSGY
YARILPGEVCCPDEQHNRVSVGIGDSCCGRMPYSTSGNQICCAGRLHDGHGQKCCGRQIV
SNDLECCGGEEGVVYNRLPGMFCCGQDYVNMSDTICCSASSGESKAHIKKNDPVPVKCCE
TELIPKSQKCCNGVGYNPLKYVCSDKISTGMMMKETKECRILCPASMEATEHCGRCDFNF
TSHICTVIRGSHNSTGKASIEEMCSSAEETIHTGSVNTYSYTDVNLKPYMTYEYRISAWN
SYGRGLSKAVRARTKEDVPQGVSPPTWTKIDNLEDTIVLNWRKPIQSNGPIIYYILLRNG
IERFRGTSLSFSDKEGIQPFQEYSYQLKACTVAGCATSSKVVAATTQGVPESILPPSITA
LSAVALHLSWSVPEKSNGVIKEYQIRQVGKGLIHTDTTDRRQHTVTGLQPYTNYSFTLTA
CTSAGCTSSEPFLGQTLQAAPEGVWVTPRHIIINSTTVELYWSLPEKPNGLVSQYQLSRN
GNLLFLGGSEEQNFTDKNLEPNSRYTYKLEVKTGGGSSASDDYIVQTPMSTPEEIYPPYN
ITVIGPYSIFVAWIPPGILIPEIPVEYNVLLNDGSVTPLAFSVGHHQSTLLENLTPFTQY
EIRIQACQNGSCGVSSRMFVKTPEAAPMDLNSPVLKALGSACIEIKWMPPEKPNGIIINY
FIYRRPAGIEEESVLFVWSEGALEFMDEGDTLRPFTLYEYRVRACNSKGSVESLWSLTQT
LEAPPQDFPAPWAQATSAHSVLLNWTKPESPNGIISHYRVVYQERPDDPTFNSPTVHAFT
VKGTSHQAHLYGLEPFTTYRIGVVAANHAGEILSPWTLIQTLESSPSGLRNFIVEQKENG
RALLLQWSEPMRTNGVIKTYNIFSDGFLEYSGLNRQFLFRRLDPFTLYTLTLEACTRAGC
AHSAPQPLWTDEAPPDSQLAPTVHSVKSTSVELSWSEPVNPNGKIIRYEVIRRCFEGKAW
GNQTIQADEKIVFTEYNTERNTFMYNDTGLQPWTQCEYKIYTWNSAGHTCSSWNVVRTLQ
APPEGLSPPVISYVSMNPQKLLISWIPPEQSNGIIQSYRLQRNEMLYPFSFDPVTFNYTD
EELLPFSTYSYALQACTSGGCSTSKPTSITTLEAAPSEVSPPDLWAVSATQMNVCWSPPT
VQNGKITKYLVRYDNKESLAGQGLCLLVSHLQPYSQYNFSLVACTNGGCTASVSKSAWTM
EALPENMDSPTLQVTGSESIEITWKPPRNPNGQIRSYELRRDGTIVYTGLETRYRDFTLT
PGVEYSYTVTASNSQGGILSPLVKDRTSPSAPSGMEPPKLQARGPQEILVNWDPPVRTNG
DIINYTLFIRELFERETKIIHINTTHNSFGMQSYIVNQLKPFHRYEIRIQACTTLGCASS
DWTFIQTPEIAPLMQPPPHLEVQMAPGGFQPTVSLLWTGPLQPNGKVLYYELYRRQIATQ
PRKSNPVLIYNGSSTSFIDSELLPFTEYEYQVWAVNSAGKAPSSWTWCRTGPAPPEGLRA
PTFHVISSTQAVVNISAPGKPNGIVSLYRLFSSSAHGAETVLSEGMATQQTLHGLQAFTN
YSIGVEACTCFNCCSKGPTAELRTHPAPPSGLSSPQIGTLASRTASFRWSPPMFPNGVIH
SYELQFHVACPPDSALPCTPSQIETKYTGLGQKASLGGLQPYTTYKLRVVAHNEVGSTAS
EWISFTTQKELPQYRAPFSVDSNLSVVCVNWSDTFLLNGQLKEYVLTDGGRRVYSGLDTT
LYIPRTADKTFFFQVICTTDEGSVKTPLIQYDTSTGLGLVLTTPGKKKGSRSKSTEFYSE
LWFIVLMAMLGLILLAIFLSLILQRKIHKEPYIRERPPLVPLQKRMSPLNVYPPGENHMG
LADTKIPRSGTPVSIRSNRSACVLRIPSQNQTSLTYSQGSLHRSVSQLMDIQDKKVLMDN
SLWEAIMGHNSGLYVDEEDLMNAIKDFSSVTKERTTFTDTHL

Sequence length

5202

Interactions

View interactions

Show/Hide Causal Diseases (11)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cone-rod dystrophy	Cone-rod dystrophy	rs483353055, rs80338903, rs397517974, rs397517994	N/A
Congenital stationary night blindness	congenital stationary night blindness	rs80338903	N/A
hearing impairment	Hearing impairment	rs371777049, rs111033364, rs748961218, rs1461319754	N/A
Leber Congenital Amaurosis	leber congenital amaurosis	rs527236126, rs754768875	N/A
retinal dystrophy	Retinal dystrophy	rs765293412, rs760302201, rs886039450, rs762159022, rs397517963, rs200712760, rs397517984, rs1553299079, rs757154662, rs780779563, rs1057517533, rs1660298900, rs746551311, rs1661818720, rs1057519193 View all (235 more)	N/A
Retinitis Pigmentosa	Retinitis pigmentosa 39, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs1661140054, rs1553259179, rs397518013, rs55958016, rs1394737087, rs80338903, rs1553300340, rs111033264, rs1553257707, rs368049814, rs1301139848, rs2038566220, rs727503725, rs201863550, rs397518043 View all (381 more)	N/A
Usher Syndrome	usher syndrome, Usher syndrome type 2A, usher syndrome type 2	rs121912600, rs747160949, rs1553258037, rs1571941511, rs376591221, rs760858249, rs768161313, rs1358947010, rs774573692, rs483353055, rs397518039, rs2030619513, rs397518036, rs1665132445, rs754374132 View all (346 more)	N/A
Cone-rod dystrophy	Cone-rod dystrophy 3	rs199840367	N/A
deafness	Deafness	rs767797828	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs767797828	N/A
Macular dystrophy	macular dystrophy	rs80338903	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bardet-Biedl Syndrome	bardet-biedl syndrome	N/A	N/A	ClinVar
Progressive Cone Dystrophy	progressive cone dystrophy (without rod involvement)	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	30075702
Albinism	Associate	39596324
Alzheimer Disease	Associate	33794991
Aneurysm	Associate	33089500
Arteriovenous Malformations	Associate	29932521
Astigmatism	Associate	37466950
Autism Spectrum Disorder	Associate	31209396
Autistic Disorder	Associate	23575222
Bietti Crystalline Dystrophy	Associate	35814500
Blindness	Associate	36980924
Breast Neoplasms	Associate	28840378, 34888385, 40312292
Cataract	Associate	25375654
Central Nervous System Diseases	Associate	30814317
Choroideremia	Associate	23940504
Chromosome 17q21.31 Deletion Syndrome	Associate	29588463
Ciliopathies	Associate	39596324
Color Vision Defects	Associate	23940504
Cone Rod Dystrophies	Associate	23940504, 35656873
Congenital Microtia	Associate	30691450
Deaf Blind Disorders	Associate	22563300, 31046701, 31842393, 33105608, 39596236
Deafness	Associate	23767834, 23967202, 25388789, 25649381, 27344577, 29142287, 31992338, 35062939, 36597107
Diabetes Mellitus Type 2	Associate	35152177
Disease	Associate	22004887
Epileptic Syndromes	Associate	20309401
Epiretinal Membrane	Associate	34781295
Eye Diseases Hereditary	Associate	29588463, 30374144
Genetic Diseases Inborn	Associate	23737954, 33926394
Gyrate Atrophy	Associate	39596324
Hearing Disorders	Associate	28894305, 29142287, 35346118
Hearing Loss	Associate	10775529, 15015129, 16931589, 18641288, 18665195, 18806881, 20309401, 22004887, 24164807, 25375654, 25388789, 28000701, 28281779, 29293505, 29899460 View all (20 more)
Hearing Loss Sensorineural	Associate	19023448, 21686329, 29986705, 34070435, 35152177, 37126974, 37287646, 39596236
Hereditary Motor And Sensory Neuropathy VI	Associate	32100970
Hypertensive Retinopathy	Associate	31904091, 33105608, 34638692
Intracranial Hemorrhages	Associate	29932521
Keratoconus	Associate	33926394
Kidney Diseases Cystic	Associate	34781295
Leber Congenital Amaurosis	Associate	23940504, 36140798
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	34781295
Lymphoma B Cell Marginal Zone	Associate	24349473
Macular Edema	Associate	36011334
Medulloblastoma	Associate	34272868
Mental Disorders	Associate	37126974
Moloney syndrome	Associate	32100970
Mood Disorders	Associate	18854872
Myopia	Associate	37466950
Neoplasms	Associate	25576899
Neoplastic Syndromes Hereditary	Associate	36362125, 37017887
Netherton Syndrome	Associate	36011334
Night Blindness	Associate	31817543, 36140798, 36980924, 37126974
Nonsyndromic Deafness	Associate	18641288, 25133613, 34837038, 37981655
Nonsyndromic sensorineural hearing loss	Associate	36555390, 39967327
Oculocutaneous albinism type 2	Associate	31904091
Osler rendu weber syndrome 2	Associate	22952568
Papillary Thyroid Microcarcinoma	Associate	34731936
Progressive hearing loss stapes fixation	Associate	33452396
Refsum Disease Infantile	Associate	31842393, 33452396, 34828430, 37237007, 37778667
Retinal Cone Dystrophy 1	Associate	28894305
Retinal Degeneration	Associate	25649381, 26352687, 28130426, 28945494, 30685615, 31046701, 33105608, 33133772, 33507217, 34331386, 35152177, 35266249, 35293952, 36980924, 39596236
Retinal Diseases	Associate	18641288, 18665195, 25649381, 32188678, 32423767, 33691693, 35621151, 36460718, 36524988
Retinal Dystrophies	Associate	23591405, 24516651, 24625443, 25133751, 27880076, 28761320, 30190494, 33173045, 34203883, 34781295, 36011402, 36084042, 36140798, 37287646, 39596236, 39596324, 40384762 View all (2 more)
Retinal Dystrophy Early Onset Severe	Associate	34203883
Retinal Neoplasms	Associate	32188678
Retinal Perforations	Associate	40725401
Retinitis Pigmentosa	Associate	10775529, 11402400, 15015129, 17085681, 18641288, 18806881, 18854872, 19023448, 19881469, 20309401, 20507924, 21686329, 22004887, 22876132, 23940504 View all (48 more)
Retinitis pigmentosa 1	Associate	29912909
RHYNS syndrome	Associate	20507924, 30453153, 31904091, 33105608, 33926394, 37654703, 39596236
Space Motion Sickness	Associate	37778667
Squamous Cell Carcinoma of Head and Neck	Associate	37373553
Stomach Neoplasms	Associate	33900127
Syndrome	Associate	18854872
Telangiectasia Hereditary Hemorrhagic	Associate	29932521
Teratoma	Associate	37126974
Testicular Neoplasms	Associate	31699113
Thyroid Carcinoma Anaplastic	Associate	25576899
Uniparental Disomy	Associate	32449591
Usher syndrome type 2A	Associate	20309401, 20440071, 25133613, 25649381, 31766479, 31817543, 32449591, 32945453, 34419747, 35346118, 36362125, 37099934
Usher Syndrome Type IF	Associate	10729113, 11402400, 15015129, 18665195, 23441107, 23924366, 25133613, 25352746, 30468996, 32093671, 33124170, 33133772, 33302902, 34781295, 36362125 View all (5 more)
Usher Syndromes	Associate	10051015, 10775529, 14740321, 15015129, 16963483, 17085681, 17093394, 18641288, 18665195, 18806881, 19023448, 19881469, 20145675, 20309401, 20507924 View all (68 more)
Vision Disorders	Associate	25375654, 29142287, 29912909, 31046701, 31904091, 32188678, 33133772, 34070435, 35346118, 35621151, 36980924, 37126974, 39596236
Vision Low	Associate	37126974

USH2A (usherin)