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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	7399
Gene name	Usherin
Gene symbol	USH2A
Synonyms (NCBI Gene)	RP39US2USH2dJ1111A8.1
Chromosome	1
Chromosome location	1q41
Summary	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

462

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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

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

6864

Show/Hide Causal Diseases (33)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal macular morphology	Pathogenic	rs111033272	RCV000627017
Autosomal dominant nonsyndromic hearing loss 36	Pathogenic; Likely pathogenic	rs2464391981, rs111033265, rs1355461608	RCV003155536 RCV003155537 RCV003155539
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs80338902, rs876657731, rs2034900559, rs2036952419, rs2037760415	RCV001257905 RCV001257907 RCV001257906 RCV001257873 RCV001257908
Blindness	Pathogenic	rs111033272	RCV000627017
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs483353055, rs80338903, rs397517974, rs397517994	RCV000787729 RCV000787897 RCV001199582 RCV000787726
Cone-rod dystrophy 3	Likely pathogenic; Pathogenic	rs199840367	RCV002272234
Congenital sensorineural hearing impairment	Pathogenic; Likely pathogenic	rs111033364, rs1057518826	RCV000415089 RCV000414770
Congenital stationary night blindness	Pathogenic	rs80338903	RCV000787899
Deafness	Pathogenic	rs767797828	RCV000679847
Ear malformation	Pathogenic; Likely pathogenic	rs1657911759, rs1161652737, rs2102522151, rs80338902, rs534534437, rs1558151555	RCV001814328 RCV001814553 RCV001814333 RCV001813938 RCV001814193 RCV001814216
Gastric cancer	Pathogenic	rs754970095	RCV005901934
Hearing impairment	Pathogenic; Likely pathogenic	rs111033364, rs371777049, rs1461319754, rs748961218	RCV000414867 RCV000754554 RCV001375184 RCV001526604
Hearing loss, autosomal recessive	Pathogenic	rs767797828	RCV001291497
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs527236126, rs754768875	RCV000144482 RCV000787898
Macular dystrophy	Pathogenic	rs80338903	RCV000787895
Monogenic hearing loss	Pathogenic; Likely pathogenic	rs80338903, rs753330544, rs750396156, rs780308389, rs143344549, rs397517973, rs1419913594, rs1558036860, rs763831329	RCV006253447 RCV006253872 RCV006259366 RCV006268822 RCV005646972 RCV006261727 RCV006252571 RCV005863375 RCV005647380
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs878853233, rs202175091, rs397518003	RCV000225050 RCV001544538 RCV001544537
Pigmentary retinopathy	Pathogenic	rs111033272	RCV000627017
Rare genetic deafness	Likely pathogenic; Pathogenic	rs527236137, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727504608, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs80338903, rs397518008 View all (72 more)	RCV000824779 RCV000152615 RCV000824777 RCV000156228 RCV000152565 RCV000824786 RCV000155859 RCV000152599 RCV000152604 RCV000155748 RCV000156887 RCV000152630 RCV000156272 RCV000824793 RCV000824792 RCV000824798 RCV000824781 RCV000824799 RCV000824795 RCV000824794 RCV000216826 RCV000217703 RCV000213731 RCV000222048 RCV000217100 RCV000213465 RCV000213203 RCV000220465 RCV004017262 RCV000824796 RCV000605844 RCV000605510 RCV000613330 RCV000605356 RCV000616874 RCV000825553 RCV000826153 RCV000041664 RCV000824797 RCV000041669 RCV000824783 RCV000824782 RCV000041677 RCV000041678 RCV000041686 RCV000041690 RCV000041696 RCV000041697 RCV000041710 RCV000041711 RCV000390593 RCV000041714 RCV000041715 RCV000041716 RCV000041728 RCV000041731 RCV000824778 RCV000041739 RCV000041749 RCV000041752 RCV000041756 RCV000041772 RCV000041794 RCV000041799 RCV000041823 RCV000824791 RCV000824790 RCV000824789 RCV000041838 RCV000041852 RCV000041861 RCV000041869 RCV000041870 RCV000041871 RCV000041880 RCV000041884 RCV000041905 RCV000041921 RCV000824785 RCV000041937 RCV000041939 RCV000824800 RCV000041947 RCV000041950 RCV000041952 RCV000041954 RCV000041960
Retinal degeneration	Pathogenic	rs539192853, rs397518043	RCV002226464 RCV002226452
Retinal disorder	Pathogenic; Likely pathogenic	rs398124619, rs753886165, rs781223647, rs151148854, rs111033273, rs111033280, rs397518043, rs1558036860	RCV006270219 RCV006273835 RCV006265195 RCV006253748 RCV006445483 RCV006272084 RCV006277680 RCV006254234
Retinal dystrophy	Pathogenic; Likely pathogenic	rs398124618, rs398124619, rs2102658764, rs768062696, rs876657733, rs137853923, rs756570931, rs2102630480, rs2102440742, rs143453173, rs1219505844, rs527236139, rs527236137, rs527236127, rs527236124 View all (299 more)	RCV001074195 RCV001075205 RCV004815506 RCV004815512 RCV004815511 RCV001074825 RCV004815576 RCV001591891 RCV004815610 RCV003888944 RCV003888947 RCV001074730 RCV001073283 RCV001073355 RCV001075191 RCV003888572 RCV001075672 RCV003888574 RCV003889102 RCV003889108 RCV001073548 RCV003991016 RCV001074086 RCV001073844 RCV000504893 RCV001074210 RCV001075161 RCV000210326 RCV001073308 RCV001074393 RCV000504814 RCV001074873 RCV001075725 RCV001074823 RCV001075757 RCV004818213 RCV003889266 RCV001075614 RCV001075871 RCV001074617 RCV001073681 RCV001073824 RCV001074360 RCV004817120 RCV001073310 RCV003889175 RCV004816341 RCV003889204 RCV004817179 RCV001073289 RCV000210293 RCV001073320 RCV001075409 RCV001074367 RCV001074876 RCV001073837 RCV000225551 RCV000225477 RCV000225372 RCV000225467 RCV000225445 RCV000225641 RCV000225527 RCV000225482 RCV000225579 RCV000225664 RCV000225384 RCV000225689 RCV000225369 RCV004818284 RCV003888668 RCV001073486 RCV001074717 RCV001074509 RCV001075572 RCV001073771 RCV001075586 RCV001074790 RCV001073636 RCV003889305 RCV004818349 RCV004818350 RCV004818351 RCV003889313 RCV004818395 RCV004818406 RCV003890496 RCV003890501 RCV003890504 RCV003890505 RCV003890508 RCV003890509 RCV003890514 RCV003890518 RCV003890519 RCV003890527 RCV003890528 RCV003890532 RCV003890536 RCV003890539 RCV003890545 RCV003890556 RCV003890561 RCV003890569 RCV003890574 RCV003890580 RCV003890586 RCV003890592 RCV003890595 RCV003890598 RCV003890604 RCV003890605 RCV003890606 RCV003890608 RCV003890609 RCV003890610 RCV003890615 RCV004818466 RCV004816634 RCV001074252 RCV001074515 RCV001075754 RCV001074930 RCV001073281 RCV004816656 RCV001074794 RCV001074209 RCV001074094 RCV004816688 RCV001074179 RCV004816700 RCV004816701 RCV004816718 RCV001074399 RCV001073605 RCV001074297 RCV001074750 RCV004817729 RCV001075684 RCV001073573 RCV001075415 RCV001073947 RCV003889925 RCV001073311 RCV001073236 RCV001074303 RCV001074344 RCV001075129 RCV004817810 RCV001073531 RCV003889966 RCV001073825 RCV001073725 RCV001074654 RCV001074753 RCV001074867 RCV001074341 RCV001075271 RCV001073802 RCV001074508 RCV001075535 RCV001074343 RCV001075239 RCV001075673 RCV004817898 RCV001074600 RCV001073245 RCV003889945 RCV004817912 RCV001075394 RCV001075758 RCV001074797 RCV004817862 RCV004817871 RCV001075029 RCV001075805 RCV004817892 RCV001073509 RCV001074255 RCV004817908 RCV004817869 RCV001074715 RCV001075752 RCV001073756 RCV001073924 RCV001073226 RCV004817890 RCV001073564 RCV001073368 RCV004817907 RCV001074119 RCV004817891 RCV001075425 RCV001075428 RCV004817872 RCV001074724 RCV001075017 RCV001073540 RCV001074740 RCV004817887 RCV004817874 RCV001075062 RCV001075571 RCV001074678 RCV004817921 RCV004814972 RCV001074772 RCV004814973 RCV001074824 RCV001073629 RCV001073926 RCV001074997 RCV001075329 RCV001073917 RCV001074339 RCV001074786 RCV001074436 RCV001075301 RCV001073672 RCV003887895 RCV004814977 RCV001074602 RCV001074200 RCV001074044 RCV004794353 RCV001074605 RCV001073793 RCV001074162 RCV003888408 RCV001075171 RCV001075814 RCV001074427 RCV001074810 RCV001075710 RCV001075163 RCV001074075 RCV001074647 RCV001073611 RCV001074359 RCV004818014 RCV003889991 RCV001075207 RCV001075468 RCV004818110 RCV001074944 RCV001073915 RCV001074597 RCV004818159 RCV004818158 RCV004818174 RCV004818175 RCV001075585 RCV001075003 RCV001075376 RCV001073838 RCV004813699 RCV001075770 RCV001073608 RCV001074285 RCV001074866 RCV001074675 RCV001075393 RCV001073386 RCV001073301 RCV001074995 RCV001073329 RCV001073536 RCV001075268 RCV001074890 RCV001075685 RCV001074113 RCV001073466 RCV001075429 RCV001075028 RCV001073693 RCV001074877 RCV001075392 RCV001075154 RCV001073843 RCV001074349 RCV001073651 RCV001074741 RCV001073356 RCV001075753 RCV001075822 RCV001073563 RCV001074304 RCV001075683 RCV001075313 RCV001074614 RCV001073901 RCV001074494 RCV001075405 RCV001075640 RCV001075525 RCV001073302 RCV001073967 RCV001075269 RCV001075492 RCV001073478 RCV001074063 RCV001075750 RCV001075061 RCV001074953 RCV001075303 RCV001074264 RCV001075057 RCV001074677 RCV004813727 RCV004813884 RCV004813931 RCV004813912 RCV004814035 RCV004814055 RCV004814046
Retinal pigment epithelial atrophy	Pathogenic	rs111033272	RCV000627017
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs756570931, rs2102549174, rs111033273, rs1472714005, rs778336512, rs1183957540, rs2102796558, rs1553261372, rs998302546, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125 View all (99 more)	RCV003324566 RCV001724839 RCV001724840 RCV001724841 RCV001724842 RCV001724844 RCV001724845 RCV001724846 RCV003324580 RCV000504711 RCV003324517 RCV000132704 RCV000132705 RCV000132706 RCV000132707 RCV000132709 RCV000132713 RCV000132714 RCV000132716 RCV000132717 RCV000505112 RCV000505055 RCV000787718 RCV000032524 RCV000032523 RCV000504922 RCV000032522 RCV001723753 RCV000505000 RCV000505154 RCV000504835 RCV000504830 RCV001723796 RCV003324522 RCV000504963 RCV001003268 RCV000787740 RCV001199569 RCV000787725 RCV000504721 RCV000504662 RCV000505059 RCV000504698 RCV000504870 RCV000505042 RCV000504889 RCV000504834 RCV000504675 RCV000505005 RCV000505079 RCV000504635 RCV000505173 RCV000504899 RCV000504668 RCV000787731 RCV001003270 RCV001199807 RCV001724127 RCV001724125 RCV001199785 RCV002272323 RCV001724130 RCV001003274 RCV001003280 RCV001724131 RCV001723627 RCV003324502 RCV001723628 RCV000504620 RCV000787727 RCV000132715 RCV000504790 RCV000505107 RCV001723630 RCV000787745 RCV001731926 RCV000787722 RCV000787720 RCV000787743 RCV000787741 RCV000787736 RCV000787735 RCV000787730 RCV000787728 RCV000787723 RCV000787742 RCV000787926 RCV000787894 RCV001199578 RCV001003261 RCV001003264 RCV001003276 RCV001003278 RCV001003290 RCV001199788 RCV001199787 RCV001199577 RCV001199574 RCV001199572 RCV001199571 RCV001199570 RCV001199568 RCV001199808 RCV001199806 RCV001199805 RCV001199580 RCV001199581 RCV001199790 RCV001199801 RCV001823185 RCV001249898 RCV001249897 RCV001249896 RCV001249900 RCV001270351
Retinitis pigmentosa 39	Pathogenic; Likely pathogenic	rs1293619630, rs1423233510, rs1656936749, rs2034899344, rs398124618, rs398124619, rs751479180, rs1254637647, rs754131049, rs368770647, rs755646290, rs761075303, rs1475129324, rs878853405, rs2034908815 View all (743 more)	RCV003473854 RCV005014424 RCV003453872 RCV001335661 RCV000671759 RCV000675016 RCV001376389 RCV001376408 RCV001376354 RCV001376509 RCV001376461 RCV001376286 RCV001376455 RCV001376344 RCV001376244 RCV001376463 RCV001376309 RCV003473901 RCV003462944 RCV003469625 RCV003462952 RCV003462953 RCV003473912 RCV003463028 RCV004570962 RCV004570945 RCV003469690 RCV003473922 RCV003462996 RCV003462984 RCV002499807 RCV003463014 RCV001587388 RCV003469689 RCV003462998 RCV005014539 RCV001376202 RCV001542726 RCV001542729 RCV003451808 RCV001591875 RCV001591876 RCV001591881 RCV002495940 RCV001591890 RCV001591893 RCV003463058 RCV005014609 RCV005005994 RCV005014619 RCV003451858 RCV005014620 RCV003451860 RCV003474015 RCV001808150 RCV003464335 RCV003471091 RCV003475177 RCV005016940 RCV005008349 RCV000675179 RCV003453052 RCV003475194 RCV004571727 RCV003475228 RCV005016949 RCV003464309 RCV004571444 RCV003464315 RCV003475270 RCV003471004 RCV005863635 RCV003464165 RCV002507733 RCV005016864 RCV003451986 RCV004571713 RCV003446982 RCV003471027 RCV003471208 RCV005016947 RCV003464306 RCV005016795 RCV003453877 RCV004571741 RCV003475242 RCV004571852 RCV003471178 RCV003475116 RCV004571989 RCV003471086 RCV000678643 RCV000983996 RCV003453100 RCV000675147 RCV003453101 RCV003462053 RCV004572084 RCV004572089 RCV005017180 RCV003454076 RCV003164465 RCV000671700 RCV003462063 RCV000984232 RCV000411616 RCV005016474 RCV000666832 RCV000412258 RCV003453127 RCV001376394 RCV003467214 RCV003474803 RCV003462062 RCV000191141 RCV000671576 RCV000984013 RCV003460406 RCV000002450 RCV000412373 RCV000763297 RCV000984315 RCV000002455 RCV000002457 RCV000002458 RCV003464446 RCV005254059 RCV003464447 RCV003475338 RCV000664558 RCV003459736 RCV003465946 RCV003459758 RCV005021661 RCV003459770 RCV003459771 RCV003475521 RCV003459772 RCV005011099 RCV004572810 RCV005011100 RCV005011101 RCV005021658 RCV003465986 RCV003454452 RCV000669197 RCV000666303 RCV000179099 RCV001376411 RCV000666708 RCV003465791 RCV003465830 RCV000191142 RCV003464605 RCV005008771 RCV003465854 RCV003464629 RCV003464636 RCV004571782 RCV003464635 RCV005019428 RCV003465881 RCV003465880 RCV004572548 RCV003459707 RCV003465899 RCV005010881 RCV003459717 RCV004572668 RCV005235679 RCV003445198 RCV002272177 RCV001542731 RCV000666079 RCV000666615 RCV000673469 RCV001542730 RCV000668930 RCV000667749 RCV003445719 RCV000675144 RCV000675178 RCV004567690 RCV002487041 RCV000671733 RCV003466008 RCV003459786 RCV003153233 RCV003224961 RCV003475859 RCV000984319 RCV003454778 RCV000672669 RCV000678635 RCV000678656 RCV000675149 RCV005021870 RCV003463751 RCV000666542 RCV000668895 RCV003315184 RCV003389586 RCV003389613 RCV003459863 RCV003466499 RCV003464782 RCV003464783 RCV003464784 RCV003464785 RCV003466500 RCV003466501 RCV003464786 RCV003464787 RCV003464788 RCV003464789 RCV003464790 RCV003464791 RCV003464792 RCV003464793 RCV003464794 RCV003464795 RCV003464796 RCV003464797 RCV003466503 RCV003464798 RCV003464799 RCV003464800 RCV003464801 RCV003464802 RCV003464803 RCV003466504 RCV003464804 RCV003464805 RCV003464806 RCV003464807 RCV003464808 RCV003464809 RCV003464810 RCV003464811 RCV003464812 RCV003464813 RCV003466505 RCV003466506 RCV003466507 RCV003464814 RCV003464815 RCV003464816 RCV003464817 RCV003466508 RCV003464818 RCV003464819 RCV003464820 RCV003466509 RCV003466510 RCV003474205 RCV003474206 RCV003474207 RCV003474208 RCV003474209 RCV003474210 RCV003474211 RCV003474212 RCV003474213 RCV003474214 RCV003474215 RCV003474216 RCV003474217 RCV003474218 RCV003474219 RCV003474220 RCV003474221 RCV003474222 RCV003474223 RCV003474224 RCV003474225 RCV003474226 RCV003474227 RCV003474228 RCV003474229 RCV003474230 RCV003474231 RCV003474232 RCV003474233 RCV003464821 RCV003466511 RCV003466512 RCV003464822 RCV003466513 RCV003464824 RCV003466514 RCV003466515 RCV003464825 RCV003464826 RCV003464827 RCV003466516 RCV003464828 RCV003464829 RCV003466517 RCV003466518 RCV003466519 RCV003466520 RCV003466521 RCV003466522 RCV003464830 RCV003464831 RCV003466523 RCV003464832 RCV003466524 RCV003464833 RCV003464834 RCV003464835 RCV003464836 RCV003464837 RCV003466525 RCV003464838 RCV003464839 RCV003464840 RCV003466526 RCV003466527 RCV003464842 RCV003464843 RCV003464844 RCV003466528 RCV003466529 RCV003464845 RCV003464846 RCV003464847 RCV003466530 RCV003464848 RCV003464849 RCV003464850 RCV003466531 RCV003466532 RCV003464851 RCV003466533 RCV003464852 RCV003464853 RCV003464854 RCV003466534 RCV003464855 RCV003464856 RCV003464857 RCV003466535 RCV003464858 RCV004574091 RCV004574092 RCV004574093 RCV005014766 RCV005013070 RCV004574184 RCV004574249 RCV004573151 RCV004573414 RCV005006329 RCV005015083 RCV004555820 RCV004573817 RCV004573818 RCV004573819 RCV004573820 RCV004573821 RCV004573822 RCV004573823 RCV004573824 RCV004573825 RCV004573827 RCV004573828 RCV004573829 RCV004573830 RCV004573831 RCV004573832 RCV004573833 RCV004573834 RCV004573835 RCV004573836 RCV004573837 RCV004573838 RCV004573840 RCV004573841 RCV004573842 RCV004573843 RCV004573844 RCV004573845 RCV004573846 RCV004573847 RCV004573848 RCV004573849 RCV004573851 RCV004573852 RCV004573853 RCV004573854 RCV004573855 RCV004573856 RCV004595117 RCV000409412 RCV000412623 RCV003449036 RCV000673542 RCV000671186 RCV003449048 RCV000589870 RCV001095706 RCV000664608 RCV001376412 RCV004568190 RCV000984317 RCV003464018 RCV003470537 RCV000674309 RCV003463976 RCV003449251 RCV000667007 RCV001376314 RCV003126756 RCV003464064 RCV000670712 RCV001376291 RCV003470635 RCV001542725 RCV000670212 RCV000670590 RCV001376218 RCV002496963 RCV000670550 RCV000674025 RCV000669452 RCV000666545 RCV000665487 RCV003464080 RCV000673031 RCV000672338 RCV003465286 RCV000586218 RCV000668783 RCV000666089 RCV001376324 RCV000667726 RCV000670491 RCV000669125 RCV001376397 RCV003471974 RCV000665082 RCV003451479 RCV005019034 RCV003465355 RCV000625628 RCV000625627 RCV000625670 RCV003451622 RCV000661902 RCV000670469 RCV000673446 RCV000673678 RCV000670968 RCV000674880 RCV000672632 RCV000673159 RCV000671255 RCV000669706 RCV000669737 RCV000672574 RCV000667246 RCV000668504 RCV000672985 RCV000671566 RCV000670292 RCV002468597 RCV000674765 RCV000666901 RCV000673642 RCV000668847 RCV000673852 RCV000670974 RCV000670406 RCV003453361 RCV000670198 RCV000667083 RCV000672965 RCV000669892 RCV000666562 RCV000668871 RCV000672715 RCV000669826 RCV000670327 RCV000674858 RCV000666872 RCV000673923 RCV000669839 RCV000672770 RCV000673284 RCV000669725 RCV000664876 RCV000670103 RCV000664642 RCV000674350 RCV000674124 RCV000672003 RCV000670330 RCV000670856 RCV000669187 RCV000671631 RCV000670898 RCV000669141 RCV000670253 RCV000666031 RCV000671998 RCV000674769 RCV000674780 RCV000674831 RCV000673865 RCV000669740 RCV000669209 RCV000667456 RCV000672187 RCV000674125 RCV000672161 RCV000664550 RCV000667309 RCV000672460 RCV000674537 RCV000667924 RCV000670017 RCV000664526 RCV000665854 RCV000670682 RCV000673896 RCV000673184 RCV000665749 RCV000671455 RCV000670015 RCV000669541 RCV000670462 RCV000670401 RCV000668946 RCV000673641 RCV000673985 RCV000665425 RCV000667768 RCV000669263 RCV000674803 RCV000664530 RCV000667358 RCV000671650 RCV000671361 RCV000672583 RCV000667787 RCV000667964 RCV004568546 RCV000670876 RCV000672679 RCV000671885 RCV000668753 RCV000673897 RCV000672318 RCV000672769 RCV000670774 RCV000672707 RCV000670084 RCV000669904 RCV000666805 RCV000669486 RCV000670151 RCV000664714 RCV000669361 RCV000671172 RCV000674272 RCV000672102 RCV000674380 RCV000671836 RCV000674857 RCV000671428 RCV000673948 RCV000669247 RCV000664904 RCV000672653 RCV000671982 RCV000669530 RCV000672888 RCV000669181 RCV000669369 RCV000673506 RCV000665610 RCV000671635 RCV000673272 RCV000665759 RCV000671851 RCV000667892 RCV000674037 RCV000666713 RCV000669313 RCV003446324 RCV000670108 RCV000670287 RCV000669105 RCV000666580 RCV000672901 RCV000667707 RCV000668909 RCV000666746 RCV000669090 RCV000669952 RCV000664581 RCV000666765 RCV000669584 RCV000667534 RCV000668857 RCV000671976 RCV000668189 RCV000671165 RCV000672162 RCV000672792 RCV003465544 RCV003459648 RCV000678654 RCV002283505 RCV000678648 RCV003459653 RCV003465549 RCV000668813 RCV000411779 RCV000670189 RCV000665210 RCV000666226 RCV002496659 RCV000664676 RCV000670912 RCV003445116 RCV000669396 RCV000670110 RCV000666727 RCV000670554 RCV000675157 RCV000670430 RCV003460549 RCV000410671 RCV003450773 RCV002496661 RCV000674521 RCV000665736 RCV000671978 RCV000678646 RCV000665036 RCV003460551 RCV003450838 RCV000410392 RCV004566810 RCV000667951 RCV000668739 RCV000675153 RCV000665613 RCV003450867 RCV000673453 RCV003466893 RCV000675158 RCV000669898 RCV000665497 RCV000666550 RCV000411255 RCV001588862 RCV001376451 RCV002504928 RCV000674717 RCV000668014 RCV001376321 RCV003453521 RCV003453567 RCV003461016 RCV004569425 RCV003453572 RCV000760987 RCV000786945 RCV003453626 RCV005012310 RCV005021181 RCV003461062 RCV003467322 RCV003467456 RCV005021234 RCV001376441 RCV003473510 RCV003461113 RCV002507436 RCV005012345 RCV003461145 RCV002503145 RCV003446564 RCV003467540 RCV004569827 RCV003455026 RCV003455031 RCV002489511 RCV003455054 RCV001376437 RCV003455058 RCV003467566 RCV003455051 RCV003455050 RCV003446587 RCV003446588 RCV003467567 RCV002489513 RCV003455065 RCV004569853 RCV003467586 RCV005021315 RCV001029955 RCV003455253 RCV003473689 RCV003467808 RCV003467794 RCV003473680 RCV003455229 RCV004570095 RCV004570284 RCV003455223 RCV003469261 RCV001376322 RCV002497384 RCV003473664 RCV005863342 RCV005021405 RCV003446597 RCV003455354 RCV003455310 RCV003455327 RCV003455410 RCV003455387 RCV003455320 RCV005021432 RCV003455390 RCV003455330 RCV003455386 RCV003455412 RCV003455360 RCV003455374 RCV003455422 RCV003455425 RCV004570315 RCV003455369 RCV003455368 RCV003455415 RCV003455340 RCV003455411 RCV003455321 RCV003446607 RCV003446615 RCV003446612 RCV003446614 RCV003446613 RCV001593259 RCV003462635 RCV003455444 RCV001376445 RCV003469315 RCV003449706 RCV003473776 RCV005012599 RCV004570448 RCV003462680 RCV003462702 RCV003469357 RCV004570473 RCV003469394 RCV003462787 RCV003449724 RCV005012656 RCV003462777 RCV005014265 RCV004570579 RCV003462781 RCV004570563 RCV003462783 RCV002504336 RCV003462803 RCV005235542 RCV003449771 RCV005012676 RCV003462795 RCV003462775 RCV005014276 RCV004570635 RCV003462819 RCV003469480 RCV003469488 RCV001262309 RCV003462847 RCV004570661 RCV002491871 RCV003462845
Rod-cone dystrophy	Pathogenic	rs111033272	RCV000627017
See cases	Pathogenic; Likely pathogenic	rs2528045584, rs80338902, rs111033364, rs886041502, rs747063294, rs779572631, rs111033264, rs2032462132	RCV004584488 RCV002251859 RCV004584307 RCV002287402 RCV005901475 RCV004584401 RCV002287354 RCV005912365
Sensorineural hearing loss disorder	Likely pathogenic	rs2527813410	RCV002795936
USH2A-related disorder	Likely pathogenic; Pathogenic	rs878853405, rs2102792994, rs2102656326, rs2102499717, rs773417196, rs554957414, rs111033265, rs2102661164, rs527236139, rs2464898805, rs727505116, rs146733615, rs80338903, rs111033367, rs80338902 View all (47 more)	RCV005634123 RCV005634132 RCV005634128 RCV005635138 RCV005635307 RCV005635394 RCV005863635 RCV005635380 RCV004732702 RCV005635489 RCV004528894 RCV004544405 RCV001095692 RCV000310917 RCV000404009 RCV001813732 RCV000778222 RCV004725564 RCV005227813 RCV004725565 RCV004537466 RCV004537468 RCV004537478 RCV001824687 RCV004532752 RCV005632338 RCV004532830 RCV004732821 RCV004531635 RCV004533027 RCV001824575 RCV004535496 RCV005869530 RCV001836644 RCV004732969 RCV004732968 RCV004535690 RCV004527731 RCV005632587 RCV004533465 RCV005632604 RCV004533468 RCV004732991 RCV004533461 RCV004533469 RCV004732588 RCV005632208 RCV004732590 RCV000270130 RCV004537153 RCV000295857 RCV005632209 RCV004732599 RCV000790914 RCV004733108 RCV004528359 RCV005633835 RCV004726845 RCV005633880 RCV005633886 RCV001095691 RCV005633938
Usher syndrome	Pathogenic; Likely pathogenic	rs1293619630, rs2037760521, rs751479180, rs2102727580, rs1343780391, rs2102460236, rs137853923, rs2102634730, rs111033273, rs2102606427, rs2034687815, rs762167370, rs983763783, rs748465849, rs483353055 View all (157 more)	RCV003235546 RCV001553665 RCV003155401 RCV002274193 RCV002222707 RCV003120593 RCV002469009 RCV002241370 RCV004526858 RCV001733414 RCV005922603 RCV002236182 RCV005057707 RCV003324571 RCV001089677 RCV002469440 RCV005406246 RCV002236189 RCV004699134 RCV003324581 RCV002469437 RCV005923942 RCV004587245 RCV003155437 RCV004782799 RCV003389502 RCV003226212 RCV004525879 RCV002238688 RCV002250425 RCV001004787 RCV000710323 RCV003479025 RCV000504641 RCV000710335 RCV001004780 RCV000505146 RCV000824781 RCV000504809 RCV003388149 RCV004801297 RCV005059181 RCV004587448 RCV002510425 RCV000504696 RCV000710348 RCV001174974 RCV001449693 RCV005406981 RCV001804928 RCV000222048 RCV001375185 RCV002298551 RCV001252669 RCV005437986 RCV003389466 RCV003123562 RCV003155887 RCV003226619 RCV003226620 RCV000594585 RCV001171534 RCV001089679 RCV003389518 RCV003389524 RCV003389532 RCV003389538 RCV003389540 RCV003389541 RCV003389542 RCV003389547 RCV003389548 RCV003389549 RCV003389559 RCV003230863 RCV002229842 RCV004782341 RCV003324684 RCV005062967 RCV004587499 RCV005240821 RCV003994903 RCV004699123 RCV002271497 RCV000505092 RCV000504759 RCV001252667 RCV000504779 RCV000505020 RCV000504911 RCV000505093 RCV004701572 RCV000504990 RCV002231177 RCV000504716 RCV003389475 RCV000504843 RCV000504656 RCV000505121 RCV000504853 RCV003479142 RCV000592080 RCV001269147 RCV004586822 RCV000596173 RCV003155245 RCV000710334 RCV003387897 RCV005438022 RCV005240444 RCV001731867 RCV003389477 RCV005240443 RCV002265845 RCV003389481 RCV005901513 RCV002469251 RCV005407858 RCV003230570 RCV006268935 RCV004768540 RCV003155271 RCV001844217 RCV005240448 RCV003389478 RCV003389479 RCV000826153 RCV004768527 RCV002509496 RCV001171545 RCV001797778 RCV001526995 RCV002298727 RCV002469254 RCV005240456 RCV000710349 RCV000504880 RCV003323372 RCV003226175 RCV001004773 RCV003114221 RCV004799759 RCV000505082 RCV001004618 RCV000710326 RCV001004785 RCV000041918 RCV003389452 RCV000710341 RCV001193386 RCV000505018 RCV004767034 RCV000041952 RCV001778686 RCV003324534 RCV003226391 RCV003324539 RCV003230611 RCV005418945 RCV003226415 RCV002282422 RCV004800657 RCV003389482 RCV004782633 RCV003117733 RCV003226420 RCV002282450 RCV005236587 RCV005418987 RCV003323795 RCV003389489 RCV005909077 RCV003389490 RCV005408776 RCV003323835 RCV001779148
Usher syndrome type 2	Pathogenic; Likely pathogenic	rs768062696, rs1438734382, rs367850936, rs376983577, rs1558078416, rs2102793202, rs727505343, rs80338903, rs111033364, rs111033272, rs111033334, rs2528250720, rs2527618865, rs1663780024, rs766915522 View all (42 more)	RCV001692374 RCV002307769 RCV002307811 RCV002307814 RCV002307777 RCV002307794 RCV001199802 RCV005357057 RCV001003260 RCV001199595 RCV001003279 RCV002308732 RCV002308733 RCV002308734 RCV002308735 RCV002308736 RCV002308477 RCV002308478 RCV002310609 RCV001003271 RCV001003287 RCV001003267 RCV001199579 RCV001199588 RCV005367492 RCV001003251 RCV001003266 RCV001003286 RCV001003291 RCV001003259 RCV001003288 RCV001003263 RCV001003253 RCV001003258 RCV001003262 RCV001003265 RCV001003272 RCV001003281 RCV001003282 RCV001199586 RCV001199585 RCV001199786 RCV001199583 RCV001199573 RCV001199593 RCV001199592 RCV001199803 RCV001199590 RCV001199796 RCV001199589 RCV001199789 RCV001199587 RCV001199804 RCV001199594 RCV002307669 RCV002307680 RCV002307704
Usher syndrome type 2A	Pathogenic; Likely pathogenic	rs1293619630, rs1423233510, rs949082769, rs1656936749, rs781195579, rs2037760521, rs398124618, rs398124619, rs751479180, rs2034908815, rs2102792994, rs1343780391, rs2030617696, rs759433119, rs2102656326 View all (612 more)	RCV003449895 RCV001830366 RCV001830281 RCV005008300 RCV001825980 RCV003449970 RCV001271126 RCV000675016 RCV005005887 RCV005606814 RCV001831375 RCV003446733 RCV001826127 RCV001831348 RCV001831362 RCV001831370 RCV001831392 RCV001831387 RCV006249755 RCV003450054 RCV001823203 RCV002499807 RCV002246368 RCV003446736 RCV005014539 RCV002307743 RCV003445508 RCV001526705 RCV001542723 RCV001542517 RCV001822896 RCV001822899 RCV001822898 RCV001822897 RCV001823266 RCV001591882 RCV001591883 RCV001591885 RCV001591886 RCV001591892 RCV005005976 RCV001587994 RCV001587999 RCV005606961 RCV005014609 RCV005868302 RCV005005994 RCV005014619 RCV005014620 RCV001725801 RCV001787431 RCV001806687 RCV001808228 RCV001808262 RCV001842255 RCV001842269 RCV003451998 RCV002246560 RCV003453815 RCV005016940 RCV005008349 RCV002246593 RCV000119824 RCV000119825 RCV005016949 RCV003453869 RCV004796671 RCV003452015 RCV005008304 RCV005863635 RCV005014704 RCV003136242 RCV002507733 RCV003452179 RCV003451985 RCV005868480 RCV005607043 RCV003446981 RCV003453814 RCV003453865 RCV005016795 RCV003453876 RCV003453878 RCV005008305 RCV003452062 RCV005614739 RCV005254021 RCV003452070 RCV000132701 RCV000132702 RCV000132703 RCV005016462 RCV000675147 RCV000132711 RCV000132712 RCV002210931 RCV002250929 RCV002251041 RCV002272595 RCV002282977 RCV002283787 RCV002283815 RCV002284020 RCV002289261 RCV000671700 RCV005008063 RCV000984231 RCV000410556 RCV001826849 RCV003453116 RCV000156895 RCV003453126 RCV003453130 RCV003453179 RCV003453204 RCV003453141 RCV000002445 RCV000002446 RCV000002447 RCV000002448 RCV000002449 RCV000174625 RCV000002451 RCV000002452 RCV000002453 RCV000002454 RCV000002456 RCV002308509 RCV002306476 RCV002306483 RCV002306489 RCV002306521 RCV002306560 RCV002306587 RCV002306604 RCV002306607 RCV002306655 RCV002306660 RCV002306692 RCV002306710 RCV002306722 RCV002306727 RCV002306777 RCV002306788 RCV002306805 RCV002309747 RCV002309827 RCV002309887 RCV002309888 RCV002309954 RCV002310008 RCV002310055 RCV002307919 RCV002307971 RCV002308059 RCV002308101 RCV002308171 RCV002308204 RCV002308222 RCV002308228 RCV002308234 RCV002308342 RCV002308352 RCV002309065 RCV002309165 RCV002309189 RCV002309239 RCV002309244 RCV002309260 RCV002309278 RCV002309287 RCV002309290 RCV002309357 RCV002309369 RCV002309414 RCV002306837 RCV002306862 RCV002306872 RCV002306878 RCV002307006 RCV002307012 RCV002307180 RCV002307220 RCV002307336 RCV002310147 RCV002310316 RCV002310356 RCV002310406 RCV002310440 RCV002310543 RCV002310584 RCV002308413 RCV003152795 RCV005869795 RCV002471309 RCV000664558 RCV003455689 RCV005021661 RCV003445214 RCV005011099 RCV005011100 RCV005011101 RCV005021658 RCV003445606 RCV001826903 RCV000669197 RCV001842795 RCV000190637 RCV002569458 RCV001826918 RCV000179630 RCV005008655 RCV005608730 RCV000190638 RCV005608779 RCV000675180 RCV005008771 RCV005019428 RCV000200078 RCV004594662 RCV005010881 RCV005019585 RCV000210302 RCV000210331 RCV001808577 RCV001273711 RCV003445710 RCV001002706 RCV000668930 RCV001097550 RCV001727643 RCV000986539 RCV000675144 RCV000675178 RCV003454686 RCV004541365 RCV001002690 RCV001833241 RCV000671733 RCV002789978 RCV003153030 RCV005608936 RCV003155553 RCV001276244 RCV000984318 RCV001271235 RCV000256404 RCV000256390 RCV000984233 RCV000675149 RCV005021870 RCV001828199 RCV001828224 RCV003324609 RCV003388857 RCV005638663 RCV005012976 RCV005012977 RCV005012978 RCV005012979 RCV005608981 RCV005014765 RCV005014766 RCV005608992 RCV005013070 RCV005014861 RCV005006329 RCV005015083 RCV003991322 RCV004555418 RCV004576170 RCV004585140 RCV000411819 RCV000411193 RCV000673542 RCV001199349 RCV000671186 RCV001271125 RCV001833524 RCV003992295 RCV000023700 RCV000023701 RCV000023702 RCV003449171 RCV000984316 RCV003446078 RCV003449187 RCV005018793 RCV000667007 RCV003446084 RCV003449253 RCV000515699 RCV000515714 RCV005018826 RCV003449387 RCV001829437 RCV001197198 RCV005018864 RCV000670212 RCV005606667 RCV000670590 RCV001834625 RCV001829439 RCV000670550 RCV000674025 RCV000669452 RCV000666545 RCV001834622 RCV002470889 RCV000673031 RCV000672338 RCV000578433 RCV000670513 RCV000668783 RCV000666089 RCV001271237 RCV003326139 RCV005019022 RCV003446171 RCV000669125 RCV000986515 RCV001271137 RCV000665082 RCV005019035 RCV003446265 RCV001198126 RCV000625605 RCV000670469 RCV000673446 RCV000673678 RCV000670968 RCV000674880 RCV000672632 RCV000673159 RCV000671255 RCV000669706 RCV000669737 RCV000672574 RCV000667246 RCV000668504 RCV000672985 RCV000671566 RCV000670292 RCV001810473 RCV000674765 RCV000666901 RCV000673642 RCV000668847 RCV000673852 RCV000670974 RCV000670406 RCV000672982 RCV000670198 RCV000667083 RCV000672965 RCV000669892 RCV000666562 RCV000668871 RCV000672715 RCV000669826 RCV000670327 RCV000674858 RCV000666872 RCV000673923 RCV000669839 RCV000672770 RCV000673284 RCV000669725 RCV000664876 RCV000670103 RCV000664642 RCV000674350 RCV000674124 RCV000672003 RCV000670330 RCV000670856 RCV000669187 RCV000671631 RCV000670898 RCV000669141 RCV000670253 RCV000666031 RCV000671998 RCV000674769 RCV000674780 RCV000674831 RCV000673865 RCV000669740 RCV000669209 RCV000667456 RCV000672187 RCV000674125 RCV000672161 RCV000664550 RCV000667309 RCV000672460 RCV000674537 RCV000667924 RCV000670017 RCV000664526 RCV000665854 RCV000670682 RCV000673896 RCV000673184 RCV000665749 RCV000671455 RCV000670015 RCV000669541 RCV000670462 RCV000670401 RCV000668946 RCV000673641 RCV000673985 RCV000665425 RCV000667768 RCV000669263 RCV000674803 RCV000664530 RCV000667358 RCV000671650 RCV000671361 RCV000672583 RCV000667787 RCV000667964 RCV005614437 RCV000670876 RCV000672679 RCV000671885 RCV000668753 RCV000673897 RCV000672318 RCV000672769 RCV000670774 RCV000672707 RCV000670084 RCV000669904 RCV000666805 RCV000669486 RCV000670151 RCV000664714 RCV000669361 RCV000671172 RCV000674272 RCV000672102 RCV000674380 RCV000671836 RCV000674857 RCV000671428 RCV000673948 RCV000669247 RCV000664904 RCV000672653 RCV000671982 RCV000669530 RCV000672888 RCV000669181 RCV000669369 RCV000673506 RCV000665610 RCV000671635 RCV000673272 RCV000665759 RCV000671851 RCV000667892 RCV000674037 RCV000666713 RCV000669313 RCV003446323 RCV000670108 RCV000670287 RCV000669105 RCV000666580 RCV000672901 RCV000667707 RCV000668909 RCV000666746 RCV000669090 RCV000669952 RCV000664581 RCV000666765 RCV000669584 RCV000667534 RCV000668857 RCV000671976 RCV000668189 RCV000671165 RCV000672162 RCV000672792 RCV000678655 RCV000678653 RCV005010672 RCV000680443 RCV003450730 RCV000041668 RCV000670189 RCV000041673 RCV000041676 RCV003450737 RCV000664676 RCV003445114 RCV001831699 RCV003445115 RCV000669396 RCV000670110 RCV000666727 RCV000670554 RCV003445120 RCV005007961 RCV003450767 RCV000670430 RCV001810411 RCV000041735 RCV002496661 RCV000674521 RCV000665736 RCV000671978 RCV000984314 RCV000665036 RCV000041825 RCV000041828 RCV000041829 RCV001199964 RCV000667951 RCV000668739 RCV002291270 RCV000665613 RCV001826597 RCV000673453 RCV003450885 RCV000675158 RCV000669898 RCV000041930 RCV000666550 RCV000041941 RCV001002711 RCV001831709 RCV000674717 RCV000668014 RCV000735748 RCV000758201 RCV001825506 RCV003453568 RCV003453570 RCV003453571 RCV000786995 RCV003992391 RCV001004145 RCV005012310 RCV005021181 RCV001830680 RCV005021234 RCV001830806 RCV001276249 RCV005012345 RCV001830736 RCV000853507 RCV000986517 RCV000986521 RCV000986526 RCV000986528 RCV000986537 RCV000986541 RCV000986545 RCV000986548 RCV000986549 RCV000986550 RCV002286426 RCV001002710 RCV001002693 RCV001002691 RCV001832324 RCV003455053 RCV003455052 RCV001827167 RCV003455057 RCV003455059 RCV003455056 RCV003455055 RCV001004141 RCV001004144 RCV001004146 RCV001004147 RCV002462254 RCV003338901 RCV001827174 RCV003455064 RCV005012499 RCV003455273 RCV003455289 RCV005021401 RCV003455228 RCV003455148 RCV005606757 RCV003455300 RCV003455294 RCV002497384 RCV001832555 RCV003455275 RCV005021405 RCV001276140 RCV001199963 RCV006249709 RCV005021432 RCV005021431 RCV002250723 RCV002471033 RCV001809978 RCV004527411 RCV005860183 RCV005012539 RCV001828541 RCV001089579 RCV002290591 RCV003455443 RCV001174953 RCV001199962 RCV001199966 RCV001196251 RCV001196594 RCV001196595 RCV001196596 RCV001199007 RCV002497762 RCV003449696 RCV005012599 RCV005012611 RCV005012618 RCV001833961 RCV002246225 RCV005014265 RCV003449720 RCV005606782 RCV001836188 RCV001828813 RCV002504336 RCV003388606 RCV005012676 RCV001833957 RCV005014276 RCV001835257 RCV001250804 RCV003449817 RCV001258347 RCV001260190 RCV002491871 RCV001835427 RCV001836270
Usher syndrome type 3A	Pathogenic	rs111033364	RCV003314546

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs794729203, rs587776538, rs1558028562	-
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity	rs75415213, rs45549044	RCV005916115 RCV005890282
Bardet-Biedl syndrome	Benign	rs41315579	RCV003224127
Childhood onset hearing loss	Conflicting classifications of pathogenicity	rs148033154, rs140895792	RCV001328024 RCV001543605
Cholangiocarcinoma	Benign	rs34565443	RCV005867953
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs45549044	RCV005890283
Familial cancer of breast	Likely benign; Benign; Uncertain significance	rs150579700, rs34565443, rs143898511	RCV005917628 RCV005867950 RCV005902146
Familial pancreatic carcinoma	Benign	rs74329863	RCV005890288
Hearing loss	Uncertain significance	rs770595289	RCV005235745
Hepatocellular carcinoma	Uncertain significance	rs2527777752	RCV005871360
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs1558077707, rs2527622993, rs12122550, rs200081251	RCV005930667 RCV005931523 RCV005905526 RCV005913615
Malignant lymphoma, large B-cell, diffuse	Benign	rs10864183, rs34565443	RCV005918404 RCV005867951
Malignant tumor of urinary bladder	Uncertain significance	rs1668037260	RCV005922841
Melanoma	Conflicting classifications of pathogenicity	rs45549044	RCV005890285
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs56056328	RCV005890289
Optic atrophy	Uncertain significance; Likely benign	rs1368683731, rs2528042295	RCV004815472 RCV004818435
Ovarian cancer	Benign	rs74329863	RCV005890287
Progressive cone dystrophy (without rod involvement)	Benign; Conflicting classifications of pathogenicity	rs111033282, rs41303287	RCV000787896 RCV000787924
Prostate cancer	Uncertain significance	rs193921072	RCV000149394
Retinitis Pigmentosa, Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs372388546, rs886045946, rs376363548, rs201127450, rs751661540, rs151238022	RCV000399208 RCV000303688 RCV000273734 RCV000322788 RCV000362323 RCV000332183 RCV000394513
Retinitis pigmentosa-deafness syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs372388546, rs886045946, rs376363548, rs201127450, rs751661540, rs151238022	RCV000304777 RCV000358595 RCV000368196 RCV000376961 RCV000307584 RCV000386444 RCV000298323
Sarcoma	Benign	rs12065013	RCV005919611
Stargardt-like macular dystrophy	Conflicting classifications of pathogenicity	rs201190539	RCV006275872
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign; Likely benign	rs45549044, rs41313732, rs56056328	RCV005890284 RCV005890286 RCV005890290
Usher syndrome type 1	Uncertain significance; Benign	rs1057519382, rs111033524	RCV000216234 RCV000219904
Uterine carcinosarcoma	Benign	rs12065013, rs11120629	RCV005919612 RCV005923780
Uterine corpus endometrial carcinoma	Benign	rs34565443	RCV005867954
Uveal melanoma	Benign	rs11120629	RCV005923779

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)