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	5314
Gene name	PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Gene symbol	PKHD1
Synonyms (NCBI Gene)	ARPKDFCYTFPCPCYTPKD4TIGM1
Chromosome	6
Chromosome location	6p12.3-p12.2
Summary	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28937907	G>A	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34796823	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs35403035	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant
rs45517932	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs137852944	G>A	Likely-pathogenic, protective, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs137852945	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs137852946	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs137852947	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852949	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs137925439	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138350291	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs138388301	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138672830	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs138968608	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138989655	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140674740	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141103838	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs141177165	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant
rs141360909	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs141622697	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142107837	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs142526715	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs142922408	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs143616240	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained
rs143737660	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs144025892	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs144106341	A>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs144193508	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained
rs145651593	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs145815264	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs145886657	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs145960781	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146083613	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs146468152	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs146519878	A>G	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs146531432	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146649803	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs146789444	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs147051900	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs147222255	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs147584295	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147851214	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs147915980	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs148356158	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs148497044	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs148790132	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs148817026	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs148932323	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant
rs149111536	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs149310653	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant, non coding transcript variant
rs149427926	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs149522482	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs149781976	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs149798764	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs180675584	C>T	Pathogenic, pathogenic-likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs181208607	G>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs183674012	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs184441390	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant
rs186227053	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs187667255	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs190396031	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs199531851	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs199559837	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs199564783	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs199568593	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs199621305	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200179145	A>G,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200204857	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs200391019	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs200432861	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200511208	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs200511261	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200679577	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200707468	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs200807210	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200864129	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs201105958	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs201432731	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs201670044	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs201812542	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs267601070	G>A,C	Pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs367564272	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs367608402	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs367707903	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, missense variant
rs368093611	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs368263958	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs368339881	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369292828	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs369925690	T>C,G	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, upstream transcript variant
rs370277502	G>A,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs371508721	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs371510537	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs373409786	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs374650666	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, upstream transcript variant
rs375603741	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs376040501	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs376658460	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs376709130	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, upstream transcript variant, intron variant
rs376987651	T>C	Pathogenic	Genic upstream transcript variant, initiator codon variant, non coding transcript variant, missense variant
rs398124475	A>C,G	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs398124476	C>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant
rs398124477	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant, 5 prime UTR variant
rs398124478	G>A,C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs398124479	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs398124480	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs398124481	TC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124483	C>-	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124484	GG>C	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124485	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs398124486	C>GGGGAATA	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs398124487	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs398124491	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, upstream transcript variant
rs398124492	A>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124495	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs398124496	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs398124498	C>A	Pathogenic-likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs398124500	G>A	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs398124501	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs398124502	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs398124503	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs535128714	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs552339299	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs557437764	G>A,T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, upstream transcript variant, synonymous variant
rs566540835	A>-,AA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs571966529	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs727504087	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic upstream transcript variant
rs727504089	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, stop gained
rs727504096	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs745770404	C>T	Pathogenic-likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs746441159	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs746471701	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs746625317	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs746838237	->T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs746972457	G>-	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs747322128	C>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs747895516	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs748365248	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs748540413	A>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs749293235	A>G,T	Likely-benign, pathogenic-likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs749295454	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs749454235	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs749768205	TC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs750190287	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs750730042	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs751084512	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs751754608	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs752305132	->A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs752327566	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs752509045	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs752994816	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs753307105	C>T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs753471298	C>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs753492974	T>C,G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs754392766	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs754626014	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs755566688	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs755688912	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs757099749	C>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs757521428	T>C	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs757854282	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs757946548	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs758352210	G>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs758732107	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs759439479	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs759851475	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs760222236	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs760426769	G>C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs760710708	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs760921148	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs764409182	ACAAA>-	Pathogenic	Stop gained, inframe indel, coding sequence variant, non coding transcript variant
rs765020336	G>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, downstream transcript variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs765209037	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs765871629	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs767511678	A>G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs767695967	T>A,G	Likely-pathogenic	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs767737392	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs770494581	C>T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs770522674	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs771180444	GT>-	Pathogenic, likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs771563591	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs773136605	C>G,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs773991918	GG>-,GGG	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs774250209	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs774759689	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs775511838	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs775628123	G>A,C	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs775638588	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs777183511	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs777377414	A>C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs777976050	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs777999875	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs778537772	C>-	Pathogenic	Non coding transcript variant, frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs779050294	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant
rs779168950	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs780097121	G>A,C,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs780898021	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs786204241	C>T	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs786204588	CATT>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, initiator codon variant, coding sequence variant, genic upstream transcript variant
rs786204688	G>A	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs786204696	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs786204707	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs786204749	G>T	Pathogenic-likely-pathogenic	Non coding transcript variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs786205582	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs794727037	G>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs794727466	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs794727566	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs794727572	TC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727680	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs794727756	C>A,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, stop gained, intron variant, coding sequence variant
rs794727759	A>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs797044607	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797044713	->G	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs797044745	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045101	A>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs863224528	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs868562051	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs868673401	C>A,G,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs886039888	T>G	Likely-pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs886042676	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs886042677	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043593	TG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886061616	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886061623	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, splice donor variant
rs908880474	->T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs910497248	CA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs913487671	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1020621286	T>C,G	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516201	C>G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1057516221	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516263	->A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, stop gained
rs1057516283	T>-	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057516382	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057516407	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant, splice acceptor variant
rs1057516413	->ATGG	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516441	G>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057516445	G>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1057516490	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516562	ATTCACTCTCACC>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, splice donor variant, intron variant
rs1057516577	G>A	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1057516588	C>A	Likely-pathogenic	Splice donor variant
rs1057516594	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057516596	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516607	C>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516608	G>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516626	TA>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516690	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516691	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057516692	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516697	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, splice donor variant
rs1057516706	T>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516709	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516751	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516762	TCACAATGTCACAGGACCGATTGCCCACAAGT>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516768	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057516775	G>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516804	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516872	T>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057516885	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516922	A>-	Pathogenic-likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516975	C>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057516982	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1057517071	->A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517078	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517158	G>A	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1057517178	A>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517220	GTCA>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, initiator codon variant, frameshift variant
rs1057517244	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs1057517270	A>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1057517273	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517324	C>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517357	->AACT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, stop gained
rs1057517378	CTA>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057517387	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517394	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057518952	->C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057524563	C>G,T	Likely-pathogenic, uncertain-significance	Downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1060501356	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs1064796287	TCTTCTGT>CAGA	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1160209891	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1183281205	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1203260419	T>C,G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1210846081	T>C	Pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, missense variant, non coding transcript variant, intron variant
rs1226122841	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1240212722	T>C	Likely-pathogenic	Intron variant
rs1246693314	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1273202231	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1295732689	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1325403863	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1334145215	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1334913120	T>-	Likely-pathogenic	Splice acceptor variant
rs1340926191	T>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs1344820986	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs1350620976	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1351918391	C>A,T	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1373102999	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, synonymous variant
rs1405067373	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1412045164	T>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1446729264	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1464962854	A>C,G	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs1485161784	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1488844530	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554132790	C>T	Likely-pathogenic	Splice acceptor variant
rs1554133736	C>T	Likely-pathogenic	Splice donor variant
rs1554134080	GATAGAGGTCTGTATCC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554162725	->GT	Likely-pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs1554167673	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554169567	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554191298	->GGCG	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554194504	AC>-	Likely-pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1554194511	A>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554194574	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554197152	T>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554198072	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554198717	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs1554198780	CAAGG>TGACCCCTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs1554199226	G>-	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554199349	ACGGGCGAAGAACCTGTTGCCAGCCCAGACC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554200778	->TG	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs1554200780	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs1554204054	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554207834	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554208257	C>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554209188	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554210085	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554211308	CGCTGTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554212326	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554212403	T>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554213853	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs1554216499	->AACT	Likely-pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554216538	CC>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554216571	ACTTGCACAG>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554217691	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1554217913	TGGAGGCCA>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, inframe deletion, non coding transcript variant, genic upstream transcript variant
rs1554218506	ATT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554218519	->AA	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554218666	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1554218926	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1554219429	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554219449	->A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554220431	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554221465	->G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554221478	CTA>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1554222508	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554222939	A>G	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1554223403	C>T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554223950	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant, intron variant
rs1554224707	A>-	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554227162	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554227215	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554227278	T>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554228601	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554229312	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554243821	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1554263076	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1554270880	C>G	Likely-pathogenic	Splice donor variant
rs1554271235	T>C	Likely-pathogenic	Splice acceptor variant
rs1554282419	C>A	Likely-pathogenic	Splice donor variant
rs1554282540	C>G	Pathogenic	Splice acceptor variant
rs1554289495	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554299291	TAATGTTTCAACAAATC>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant
rs1561920869	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561921358	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561967407	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1562140771	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1562581286	CT>TC	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1581726525	T>C	Pathogenic	Genic upstream transcript variant, intron variant
rs1581727260	C>-	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1581763359	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1581806935	AGA>CT	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581808463	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1581809655	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581810497	->G	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581811762	CC>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581812192	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581827172	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1581910796	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1581910835	G>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581928360	C>T	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1581955260	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1581956689	CC>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581974348	C>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1581992845	C>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1581999471	A>C	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant
rs1582002018	C>T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1582013246	C>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1582024305	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1582038191	G>C	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1582053820	T>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1582064292	C>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1582064844	->T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582085757	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1582154630	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1582436832	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582441455	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1582441668	->TGTCACTAAT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582469538	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1582470309	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant, 3 prime UTR variant
rs1582479341	CCTTGACTTCTTTCACAGT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582925274	T>A	Pathogenic	Intron variant, splice acceptor variant
rs1583013487	CGGCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583053996	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583054534	TAGACAATGTATCACGT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583055258	GCTCTAA>ACTCTAG	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs1583202788	T>G	Likely-pathogenic	Intron variant
rs1583203255	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

330

Show/Hide all (330)

miRTarBase ID	miRNA	Experiments	Reference
MIRT722332	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT722331	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT722330	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT722329	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT722328	hsa-miR-574-5p	HITS-CLIP	19536157
MIRT722327	hsa-miR-891b	HITS-CLIP	19536157
MIRT722326	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT722325	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722324	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722323	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT722322	hsa-miR-892c-3p	HITS-CLIP	19536157
MIRT666961	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT666960	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT666959	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT666958	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT666957	hsa-miR-617	HITS-CLIP	23824327
MIRT666956	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT666955	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT666954	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT666953	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT666952	hsa-miR-5095	HITS-CLIP	23824327
MIRT666951	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT666950	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT666949	hsa-miR-4323	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT639390	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT639389	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT639388	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT483438	hsa-miR-892c-5p	PAR-CLIP	23592263
MIRT483437	hsa-miR-759	PAR-CLIP	23592263
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610476	hsa-miR-1305	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610475	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	27418678
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	27418678
MIRT722332	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT722331	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT722330	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT722329	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT722328	hsa-miR-574-5p	HITS-CLIP	19536157
MIRT722327	hsa-miR-891b	HITS-CLIP	19536157
MIRT722326	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT722325	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722324	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722323	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT722322	hsa-miR-892c-3p	HITS-CLIP	19536157
MIRT666961	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT666960	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT666959	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT666958	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT666957	hsa-miR-617	HITS-CLIP	23824327
MIRT666956	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT666955	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT666954	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT666953	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT666952	hsa-miR-5095	HITS-CLIP	23824327
MIRT666951	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT666950	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT666949	hsa-miR-4323	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT639390	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT639389	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT639388	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT636325	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT636324	hsa-miR-6090	HITS-CLIP	23824327
MIRT636323	hsa-miR-4300	HITS-CLIP	23824327
MIRT636322	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT636321	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT636320	hsa-miR-920	HITS-CLIP	23824327
MIRT636319	hsa-miR-1233-5p	HITS-CLIP	23824327
MIRT636318	hsa-miR-6778-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610479	hsa-miR-1296-3p	HITS-CLIP	23824327
MIRT610478	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT610477	hsa-miR-4727-3p	HITS-CLIP	23824327
MIRT610476	hsa-miR-1305	HITS-CLIP	23824327
MIRT610475	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT483438	hsa-miR-892c-5p	PAR-CLIP	23592263
MIRT483437	hsa-miR-759	PAR-CLIP	23592263
MIRT1237412	hsa-miR-1	CLIP-seq
MIRT1237413	hsa-miR-128	CLIP-seq
MIRT1237414	hsa-miR-133a	CLIP-seq
MIRT1237415	hsa-miR-133b	CLIP-seq
MIRT1237416	hsa-miR-140-3p	CLIP-seq
MIRT1237417	hsa-miR-206	CLIP-seq
MIRT1237418	hsa-miR-3129-3p	CLIP-seq
MIRT1237419	hsa-miR-3155	CLIP-seq
MIRT1237420	hsa-miR-3155b	CLIP-seq
MIRT1237421	hsa-miR-3189-3p	CLIP-seq
MIRT1237422	hsa-miR-3190	CLIP-seq
MIRT1237423	hsa-miR-3545-3p	CLIP-seq
MIRT1237424	hsa-miR-3607-5p	CLIP-seq
MIRT1237425	hsa-miR-3647-3p	CLIP-seq
MIRT1237426	hsa-miR-3673	CLIP-seq
MIRT1237427	hsa-miR-3919	CLIP-seq
MIRT1237428	hsa-miR-4266	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT1237430	hsa-miR-4289	CLIP-seq
MIRT1237431	hsa-miR-4307	CLIP-seq
MIRT1237432	hsa-miR-4462	CLIP-seq
MIRT1237433	hsa-miR-4490	CLIP-seq
MIRT1237434	hsa-miR-452	CLIP-seq
MIRT1237435	hsa-miR-4676-3p	CLIP-seq
MIRT1237436	hsa-miR-4687-3p	CLIP-seq
MIRT1237437	hsa-miR-4693-5p	CLIP-seq
MIRT1237438	hsa-miR-4720-3p	CLIP-seq
MIRT1237439	hsa-miR-4752	CLIP-seq
MIRT1237440	hsa-miR-4757-5p	CLIP-seq
MIRT1237441	hsa-miR-484	CLIP-seq
MIRT1237442	hsa-miR-514	CLIP-seq
MIRT1237443	hsa-miR-514b-3p	CLIP-seq
MIRT1237444	hsa-miR-548a-3p	CLIP-seq
MIRT1237445	hsa-miR-548a-5p	CLIP-seq
MIRT1237446	hsa-miR-548ab	CLIP-seq
MIRT1237447	hsa-miR-548ac	CLIP-seq
MIRT1237448	hsa-miR-548ae	CLIP-seq
MIRT1237449	hsa-miR-548aj	CLIP-seq
MIRT1237450	hsa-miR-548ak	CLIP-seq
MIRT1237451	hsa-miR-548am	CLIP-seq
MIRT1237452	hsa-miR-548b-5p	CLIP-seq
MIRT1237453	hsa-miR-548c-5p	CLIP-seq
MIRT1237454	hsa-miR-548d-3p	CLIP-seq
MIRT1237455	hsa-miR-548d-5p	CLIP-seq
MIRT1237456	hsa-miR-548e	CLIP-seq
MIRT1237457	hsa-miR-548f	CLIP-seq
MIRT1237458	hsa-miR-548h	CLIP-seq
MIRT1237459	hsa-miR-548i	CLIP-seq
MIRT1237460	hsa-miR-548j	CLIP-seq
MIRT1237461	hsa-miR-548k	CLIP-seq
MIRT1237462	hsa-miR-548l	CLIP-seq
MIRT1237463	hsa-miR-548w	CLIP-seq
MIRT1237464	hsa-miR-548x	CLIP-seq
MIRT1237465	hsa-miR-548y	CLIP-seq
MIRT1237466	hsa-miR-548z	CLIP-seq
MIRT1237467	hsa-miR-559	CLIP-seq
MIRT1237468	hsa-miR-580	CLIP-seq
MIRT1237469	hsa-miR-582-3p	CLIP-seq
MIRT1237470	hsa-miR-583	CLIP-seq
MIRT1237471	hsa-miR-613	CLIP-seq
MIRT1237472	hsa-miR-651	CLIP-seq
MIRT1237473	hsa-miR-1205	CLIP-seq
MIRT1237474	hsa-miR-3074-5p	CLIP-seq
MIRT1237475	hsa-miR-3973	CLIP-seq
MIRT1237476	hsa-miR-516a-3p	CLIP-seq
MIRT1237477	hsa-miR-520g	CLIP-seq
MIRT1237478	hsa-miR-520h	CLIP-seq
MIRT1237479	hsa-miR-607	CLIP-seq
MIRT2297167	hsa-miR-101	CLIP-seq
MIRT2297168	hsa-miR-144	CLIP-seq
MIRT2297169	hsa-miR-365	CLIP-seq
MIRT2392580	hsa-miR-1271	CLIP-seq
MIRT2392581	hsa-miR-182	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT2392582	hsa-miR-513a-3p	CLIP-seq
MIRT2392583	hsa-miR-96	CLIP-seq
MIRT2392580	hsa-miR-1271	CLIP-seq
MIRT2392581	hsa-miR-182	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT2594530	hsa-miR-4642	CLIP-seq
MIRT2392582	hsa-miR-513a-3p	CLIP-seq
MIRT2392583	hsa-miR-96	CLIP-seq
MIRT2392580	hsa-miR-1271	CLIP-seq
MIRT2392581	hsa-miR-182	CLIP-seq
MIRT1237429	hsa-miR-4282	CLIP-seq
MIRT2594530	hsa-miR-4642	CLIP-seq
MIRT2392582	hsa-miR-513a-3p	CLIP-seq
MIRT2392583	hsa-miR-96	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000132	Process	Establishment of mitotic spindle orientation	ISS
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	ISS
GO:0003382	Process	Epithelial cell morphogenesis	ISS
GO:0005515	Function	Protein binding	IPI	16243292, 18235088, 20048263, 20709014
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	20709014
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005813	Component	Centrosome	IDA	20554582
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	15458427, 16956880, 17470460
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	IMP	20048263
GO:0006874	Process	Intracellular calcium ion homeostasis	IMP	17669261
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	19943112
GO:0009897	Component	External side of plasma membrane	TAS	11919560
GO:0010824	Process	Regulation of centrosome duplication	IMP	20554582
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	16243292
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022407	Process	Regulation of cell-cell adhesion	ISS
GO:0030155	Process	Regulation of cell adhesion	ISS
GO:0032006	Process	Regulation of TOR signaling	IMP	19524688
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	21300060
GO:0036064	Component	Ciliary basal body	IDA	14978161, 14983006
GO:0038023	Function	Signaling receptor activity	NAS	11919560
GO:0042592	Process	Homeostatic process	NAS	11919560
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	19943112, 21300060
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0045216	Process	Cell-cell junction organization	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20709014
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0051660	Process	Establishment of centrosome localization	ISS
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	21300060
GO:0060271	Process	Cilium assembly	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IEA
GO:0070062	Component	Extracellular exosome	ISS
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IMP	17669261
GO:0072686	Component	Mitotic spindle	IDA	20554582
GO:0090175	Process	Regulation of establishment of planar polarity	IEA
GO:0090175	Process	Regulation of establishment of planar polarity	ISS
GO:0097731	Component	9+0 non-motile cilium	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	ISS
GO:1904054	Process	Regulation of cholangiocyte proliferation	IMP	30898581

MIM	HGNC	e!Ensembl
606702	9016	ENSG00000170927

P08F94

Protein name

Fibrocystin (Polycystic kidney and hepatic disease 1 protein) (Polyductin) (Tigmin)

Protein function

Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring co

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01833	TIG	259 → 341	IPT/TIG domain	Domain
PF01833	TIG	931 → 1010	IPT/TIG domain	Domain
PF01833	TIG	1019 → 1102	IPT/TIG domain	Domain
PF01833	TIG	1108 → 1192	IPT/TIG domain	Domain
PF01833	TIG	1389 → 1479	IPT/TIG domain	Domain
PF01833	TIG	1486 → 1569	IPT/TIG domain	Domain
PF01833	TIG	1573 → 1658	IPT/TIG domain	Domain
PF10162	G8	1933 → 2052	G8 domain	Domain
PF13229	Beta_helix	2242 → 2419	Right handed beta helix region	Family
PF10162	G8	2748 → 2872	G8 domain	Domain
PF13229	Beta_helix	3002 → 3177	Right handed beta helix region	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather ind

Sequence

MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEI
HLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPN
PGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVIL
EAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVH
KKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIR
HVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASS
PFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVG
TADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNP
DVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIE
ELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPA
AQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDC
TDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSG
TARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQR
RQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDL
YTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATA
NQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQ
FLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPR
LDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDG
RIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLD
VEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFS
IEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDA
GAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVG
GSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSV
VLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHT
ILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLT
TVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYA
CSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGA
ELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGA
ANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITA
VTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLC
GLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPS
FSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNF
SLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGP
IELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLH
GSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQ
DTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEAN
APEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSL
TLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISW
EAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAG
YGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWES
AGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIK
TPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPH
AAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLAN
TPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSA
TFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLT
YLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPG
DDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPL
EKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNE
RIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTED
GRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPL
YSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTV
TNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSD
NVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLL
AVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGR
IGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNA
ENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGR
ALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLMQGFICKQTDQVVLILDSADA
IWAIQKLYPVVSVTSGFVDVFSSVNANIPCSTSGSVSTFYSILPIRQITKVCFMDQTPQV
LRFFLLGNKSTSKLLLAVFYHELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMD
NLLYVVLQGEEPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHE
MPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRASPPMTVETISK
VIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTGVLENVLNMTIGALLVTQSKG
VIGYGNTSSFKTGNLIYIRPYALSILVQPSDGEVGNELPVQPQLVFLDEQNRRVESLGPP
SEPWTISASLEGASDSVLKGCTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFT
ARSKPFAVLPVTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQT
NNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGVSRRKVSRHIV
REEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWKEGQEQLLRYQLAGQNQLLLL
CPDFRQERQQLPGQSRLSKQSGSLGLSQEKKASCGATEAFCLHSVHPETIQEQL

Sequence length

4074

Interactions

View interactions

6611

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal intrahepatic bile duct morphology	Pathogenic; Likely pathogenic	rs727504096, rs200391019	RCV000626995 RCV000626996
Abnormality of the genitourinary system	Pathogenic	rs1485161784, rs181208607, rs1057517047	RCV001814379 RCV001814084 RCV001814154
Anhydramnios	Pathogenic	rs2128236766, rs2150417724, rs2150329422	RCV001807670 RCV001807672 RCV001807673
Autosomal dominant polycystic kidney disease	Pathogenic	rs398124478	RCV001844805
Autosomal dominant polycystic liver disease	Likely pathogenic; Pathogenic	rs398124483, rs2150413999, rs2128144126, rs1775373904, rs1250269841, rs2128193153, rs200391019, rs786204696, rs137852944, rs137852949, rs773136605, rs781368899, rs774759689, rs769559267, rs200432861 View all (6 more)	RCV001844806 RCV001844866 RCV001844869 RCV001844870 RCV001844873 RCV001844874 RCV001844877 RCV001844812 RCV001844813 RCV000845138 RCV000845135 RCV001844815 RCV000845132 RCV001844829 RCV001844843 RCV001844847 RCV001844845 RCV001844848 RCV000845133 RCV000845137 RCV000845136 RCV001844851
Autosomal recessive polycystic kidney disease	Pathogenic; Likely pathogenic	rs774086520, rs398124475, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs2150277532 View all (644 more)	RCV003612711 RCV000179585 RCV000176433 RCV002514445 RCV000179010 RCV000169008 RCV001244749 RCV000179135 RCV001854440 RCV001035923 RCV000169555 RCV000174614 RCV000179217 RCV000174804 RCV001379251 RCV001379991 RCV001379513 RCV001379520 RCV001379393 RCV001378594 RCV001379980 RCV001379413 RCV001379562 RCV001379064 RCV001377496 RCV001377311 RCV001377956 RCV001377569 RCV001390659 RCV001386689 RCV001385038 RCV001387380 RCV001390998 RCV001383916 RCV001388205 RCV001390678 RCV001382195 RCV001386809 RCV001381569 RCV001384496 RCV001385597 RCV001382710 RCV001380825 RCV001383342 RCV001383093 RCV001382111 RCV001389507 RCV001385249 RCV001390549 RCV001390455 RCV001388864 RCV001387001 RCV001387002 RCV001382258 RCV001389535 RCV001387683 RCV001533173 RCV001873799 RCV002032720 RCV002541157 RCV002544253 RCV001885167 RCV002544268 RCV001797953 RCV001897262 RCV002015121 RCV001965339 RCV001979670 RCV001923013 RCV002019008 RCV001993682 RCV001999799 RCV001917643 RCV001941681 RCV001960617 RCV001941791 RCV001941797 RCV001917500 RCV001950797 RCV001950950 RCV001935706 RCV001982499 RCV001910364 RCV001905031 RCV001961889 RCV002011200 RCV001912209 RCV001963071 RCV001942466 RCV001870696 RCV001945635 RCV001960120 RCV001977086 RCV002001331 RCV002027401 RCV001909406 RCV001993259 RCV002007352 RCV002007378 RCV002037844 RCV001994761 RCV002002448 RCV002035240 RCV002035267 RCV002007186 RCV001926613 RCV001962702 RCV002035404 RCV002040437 RCV001874853 RCV001896687 RCV001960760 RCV001939596 RCV001962880 RCV001939645 RCV001994349 RCV002031165 RCV001941547 RCV001960527 RCV002041581 RCV001879271 RCV001953441 RCV001935120 RCV001963009 RCV001995839 RCV002033050 RCV001956350 RCV001912248 RCV002019355 RCV001878117 RCV001972527 RCV001947037 RCV002005937 RCV002020866 RCV002047463 RCV001999422 RCV001891180 RCV001892922 RCV001949563 RCV001958733 RCV001949634 RCV002003770 RCV001915601 RCV001863701 RCV001984489 RCV001977315 RCV002020997 RCV001918635 RCV001955055 RCV001876534 RCV001916469 RCV002282947 RCV003502617 RCV001384543 RCV000176696 RCV000796722 RCV000177889 RCV000177668 RCV003502619 RCV003099151 RCV005608717 RCV000168405 RCV000168407 RCV005098452 RCV000169068 RCV000169490 RCV000169255 RCV000169496 RCV000169564 RCV000169149 RCV000169334 RCV000169522 RCV000169230 RCV000169507 RCV000169512 RCV000169415 RCV000169599 RCV000169335 RCV003060047 RCV003037166 RCV003037167 RCV003037168 RCV003060049 RCV003060050 RCV003037170 RCV003037172 RCV003052854 RCV003058903 RCV003079467 RCV003083924 RCV003078059 RCV002595155 RCV000004324 RCV000004325 RCV000004328 RCV000004329 RCV000004330 RCV000004331 RCV000176777 RCV002510371 RCV000177479 RCV000394147 RCV003502521 RCV003110775 RCV003104816 RCV000780604 RCV003116270 RCV003611503 RCV003118348 RCV000336528 RCV000844922 RCV002575398 RCV002622848 RCV002618656 RCV002609576 RCV002646453 RCV002685450 RCV002681033 RCV002666614 RCV002663039 RCV002685554 RCV002735109 RCV002685952 RCV002695905 RCV002800594 RCV002795725 RCV002756231 RCV000190615 RCV002832804 RCV002825166 RCV002801604 RCV002839574 RCV002846741 RCV002839133 RCV002825635 RCV002825657 RCV002861785 RCV002880906 RCV002881458 RCV002866084 RCV002876161 RCV002871760 RCV002876596 RCV002862728 RCV002862749 RCV002867520 RCV002881971 RCV002903895 RCV002877307 RCV002918774 RCV002933555 RCV002962614 RCV002953655 RCV000200756 RCV002953418 RCV002993720 RCV002982185 RCV003020467 RCV003016483 RCV003020575 RCV003009984 RCV003019174 RCV003008448 RCV003022110 RCV003023658 RCV003017447 RCV003026974 RCV003037968 RCV003023390 RCV003017354 RCV003027873 RCV003046947 RCV003049931 RCV003059763 RCV003036527 RCV003050003 RCV003611631 RCV003226883 RCV000256369 RCV000780594 RCV003236329 RCV000798170 RCV000300283 RCV003611647 RCV003611645 RCV003611653 RCV003611654 RCV003611655 RCV003502738 RCV003502739 RCV003502740 RCV005616646 RCV005100207 RCV003485950 RCV003611658 RCV003486502 RCV003502922 RCV003503467 RCV003503596 RCV003502899 RCV003503547 RCV003502842 RCV003502889 RCV003502898 RCV003502938 RCV003502947 RCV003503521 RCV003503577 RCV003503865 RCV003503631 RCV003503813 RCV003503654 RCV003503740 RCV003503748 RCV003503932 RCV003502302 RCV003502071 RCV003502245 RCV003504536 RCV003504537 RCV003504538 RCV003504539 RCV003504540 RCV003504542 RCV003503062 RCV003503065 RCV003502393 RCV003502991 RCV003503051 RCV003502418 RCV003503044 RCV003503045 RCV003503172 RCV003502452 RCV003502461 RCV003503306 RCV003503437 RCV003503964 RCV003504071 RCV003503327 RCV003503412 RCV003611737 RCV003611728 RCV003611730 RCV003611817 RCV003611981 RCV003612509 RCV003612587 RCV003612716 RCV003612526 RCV003612601 RCV003612735 RCV003612889 RCV003612817 RCV003612863 RCV003612882 RCV003612778 RCV003613206 RCV003613202 RCV003613203 RCV003613064 RCV003612965 RCV003613051 RCV003613053 RCV003613085 RCV003613259 RCV003613400 RCV003613427 RCV003613221 RCV003613311 RCV003613470 RCV003613471 RCV003613474 RCV003613508 RCV003611001 RCV003611061 RCV003613477 RCV003611098 RCV000390646 RCV000299549 RCV003611218 RCV003611408 RCV003612156 RCV003612147 RCV003612412 RCV003612339 RCV000315696 RCV003822303 RCV003825652 RCV003842912 RCV003842913 RCV003840027 RCV003857913 RCV003853463 RCV003853486 RCV003866300 RCV003874817 RCV003862290 RCV003879766 RCV003869882 RCV003988485 RCV004587976 RCV000408884 RCV000412407 RCV000411765 RCV000410089 RCV000412022 RCV000410535 RCV000411085 RCV000411250 RCV005606661 RCV000408992 RCV000412217 RCV000411686 RCV000409558 RCV000412178 RCV000409067 RCV000411938 RCV000410933 RCV000410465 RCV000411034 RCV000411161 RCV000409248 RCV000409843 RCV000409814 RCV000412211 RCV000411783 RCV000410242 RCV000410533 RCV000412096 RCV000409321 RCV000408967 RCV000410281 RCV000411384 RCV000411920 RCV000411630 RCV001004198 RCV001828451 RCV000474720 RCV000467466 RCV000476666 RCV005239073 RCV001004192 RCV001829415 RCV000500109 RCV000505653 RCV000557398 RCV000548550 RCV000555749 RCV000546671 RCV000557856 RCV000532711 RCV000550974 RCV000578239 RCV000590265 RCV000588451 RCV000586446 RCV000587245 RCV001378086 RCV000594446 RCV001377108 RCV000625613 RCV000633435 RCV000633429 RCV000633431 RCV000633434 RCV000665966 RCV000670802 RCV000667303 RCV000669151 RCV000666787 RCV000672675 RCV000665307 RCV000667214 RCV000666217 RCV000664790 RCV000667175 RCV000667904 RCV005606700 RCV000665232 RCV000671557 RCV000670899 RCV000671482 RCV000675040 RCV000674601 RCV000672971 RCV005606695 RCV000673409 RCV000666936 RCV000669717 RCV000671833 RCV000670400 RCV000672762 RCV000672829 RCV000666039 RCV000673461 RCV000670178 RCV000665223 RCV000670931 RCV000668772 RCV000665876 RCV000669137 RCV000671958 RCV000671399 RCV000667179 RCV000674293 RCV000668499 RCV000664542 RCV000664559 RCV000667920 RCV000666503 RCV000671679 RCV000665516 RCV000665124 RCV000667097 RCV000666433 RCV000677706 RCV000677707 RCV000699689 RCV000700684 RCV000694411 RCV000696601 RCV000685078 RCV001388528 RCV001004187 RCV001004219 RCV003768197 RCV001004184 RCV000794567 RCV000766230 RCV000770983 RCV000779513 RCV000781730 RCV000781731 RCV000781724 RCV000781723 RCV000781721 RCV000780598 RCV000781727 RCV000781728 RCV000781719 RCV000780595 RCV000786871 RCV000786959 RCV001004194 RCV001220463 RCV001004206 RCV001229792 RCV000789045 RCV000809877 RCV000803076 RCV000814732 RCV000821994 RCV000796412 RCV000792502 RCV000795866 RCV000793810 RCV000822887 RCV000804678 RCV000795867 RCV000794343 RCV000812342 RCV000804473 RCV003611535 RCV000984960 RCV000987716 RCV000987717 RCV000987718 RCV000991309 RCV000995602 RCV001002793 RCV001004185 RCV001004188 RCV001004189 RCV001004190 RCV001004191 RCV001004193 RCV003611544 RCV001004197 RCV001004199 RCV001004202 RCV001004203 RCV001004204 RCV001004205 RCV001004208 RCV001004209 RCV001004210 RCV001004211 RCV001004212 RCV001004213 RCV001004215 RCV001004216 RCV001004217 RCV001004218 RCV001328217 RCV001066696 RCV001050582 RCV001048012 RCV001052108 RCV001047428 RCV001066753 RCV001070589 RCV001060122 RCV001071247 RCV001037607 RCV001069479 RCV001036123 RCV001034834 RCV001070680 RCV001067721 RCV001061311 RCV001062632 RCV001044857 RCV001055749 RCV001050110 RCV001047078 RCV001064967 RCV001090030 RCV001209147 RCV001174805 RCV001174853 RCV001175224 RCV001175220 RCV001175221 RCV001194456 RCV001193198 RCV001193197 RCV001194457 RCV001199864 RCV001215566 RCV001220424 RCV001221862 RCV001219862 RCV001222260 RCV001222497 RCV001214097 RCV001209271 RCV001213042 RCV001211325 RCV001202003 RCV001218758 RCV001223409 RCV001218723 RCV001219795 RCV001225449 RCV001227958 RCV001229987 RCV001233821 RCV001227858 RCV001238235 RCV001246302 RCV003862439 RCV001243159 RCV001246002 RCV001240404 RCV001239664 RCV001248507 RCV001281216 RCV001281215 RCV001281212 RCV001281209 RCV001281163 RCV001281162 RCV001281213 RCV001281210 RCV001251457 RCV001257503 RCV001257504 RCV001257505 RCV001257506 RCV001257509 RCV001257510 RCV001257512 RCV001257513 RCV001260316 RCV001328215 RCV001863170 RCV002017996 RCV001830113
Biliary tract abnormality	Pathogenic; Likely pathogenic	rs760222236, rs369925690, rs201082169, rs367707903	RCV005621938 RCV005625611 RCV005625689 RCV005626211
Caroli disease	Likely pathogenic; Pathogenic	rs534831346, rs200391019, rs764696718	RCV001507097 RCV001507098 RCV001507099
Classic homocystinuria	Likely pathogenic	rs797044607	RCV000192625
Colorectal cancer, protection against	Likely pathogenic; Pathogenic	rs137852944	RCV000023566
Enlarged kidney	Pathogenic	rs2128236766, rs2150417724, rs2150329422	RCV001807670 RCV001807672 RCV001807673
Familial cystic renal disease	Pathogenic	rs2151011995	RCV005241465
Hyperechogenic kidneys	Pathogenic	rs2128236766, rs2150417724, rs2150329422	RCV001807670 RCV001807672 RCV001807673
Hypoplastic aortic arch	Pathogenic	rs2151550125	RCV001801169
Multiple renal cysts	Pathogenic	rs2128236766, rs2150417724	RCV001807670 RCV001807672
Oligohydramnios	Likely pathogenic; Pathogenic	rs137852944	RCV000414898
Periportal fibrosis	Likely pathogenic; Pathogenic	rs137852944	RCV000414898
PKHD1-related disorder	Pathogenic; Likely pathogenic	rs398124478, rs398124483, rs398124484, rs398124495, rs398124498, rs398124502, rs398124503, rs1365407882, rs1477456222, rs727504089, rs746838237, rs200391019, rs148617572, rs786204688, rs200179145 View all (50 more)	RCV004748567 RCV004748569 RCV003407466 RCV003407467 RCV003398683 RCV003390781 RCV004748570 RCV003408098 RCV003893017 RCV003917507 RCV004748604 RCV003398859 RCV003937523 RCV004748616 RCV004748614 RCV003927564 RCV004748617 RCV003415647 RCV004748496 RCV003415648 RCV004749942 RCV003898708 RCV003427875 RCV003397560 RCV003414416 RCV003416976 RCV003901091 RCV004723324 RCV003901107 RCV003409556 RCV003912528 RCV003896884 RCV003896399 RCV003912306 RCV003401390 RCV004748748 RCV004748747 RCV004748752 RCV003401465 RCV003409665 RCV003419833 RCV003900129 RCV003925600 RCV003420014 RCV003392471 RCV003411573 RCV004748888 RCV003411585 RCV003918107 RCV004748917 RCV004748930 RCV003892657 RCV004723147 RCV004748964 RCV004748966 RCV003396367 RCV004748981 RCV004748968 RCV004749600 RCV004749614 RCV004749615 RCV004726991 RCV004749627 RCV004727011 RCV003399026
Polycystic kidney disease	Pathogenic; Likely pathogenic	rs2151550125, rs200391019, rs181208607, rs200179145, rs786204707, rs137852944, rs760222236, rs1057517273, rs1057518952, rs1210846081, rs1554218506, rs367678592, rs376987651, rs868562051, rs367707903 View all (5 more)	RCV001801169 RCV001292108 RCV000415427 RCV001291886 RCV000415273 RCV000414898 RCV001292483 RCV001292409 RCV000414774 RCV001291854 RCV000501264 RCV001292490 RCV001292012 RCV001292132 RCV001027935 RCV001027937 RCV005245513 RCV001292356 RCV001292352 RCV001292076
Polycystic kidney disease 4	Likely pathogenic; Pathogenic	rs1020902474, rs1250269841, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124498, rs398124500, rs398124501, rs398124502 View all (666 more)	RCV003472463 RCV001332900 RCV004566956 RCV002470759 RCV001262428 RCV002490727 RCV002505007 RCV002505008 RCV001781409 RCV005430120 RCV005430121 RCV003129775 RCV003474684 RCV001535976 RCV001535900 RCV001580453 RCV002504635 RCV005232300 RCV002504634 RCV004596452 RCV003469711 RCV005040271 RCV002471106 RCV003469662 RCV001780340 RCV003469671 RCV002493935 RCV003463023 RCV003473974 RCV002504639 RCV003989694 RCV001536006 RCV001536023 RCV005225422 RCV001542751 RCV003470867 RCV001580761 RCV003463056 RCV001784842 RCV001784843 RCV001784844 RCV001784845 RCV001784846 RCV001782637 RCV001782638 RCV001782639 RCV001782640 RCV001824232 RCV002492293 RCV005031873 RCV004571707 RCV005042480 RCV005032001 RCV004571450 RCV003475254 RCV003464189 RCV002484648 RCV005038488 RCV002307808 RCV003464283 RCV003475205 RCV003464216 RCV003464302 RCV002471203 RCV003464303 RCV003464400 RCV003463292 RCV005032011 RCV002507000 RCV003464357 RCV003470946 RCV004571734 RCV003492721 RCV002478273 RCV004571746 RCV004571747 RCV003471232 RCV005038371 RCV005603753 RCV002236187 RCV003464170 RCV005038496 RCV002225057 RCV002237202 RCV002250837 RCV002463375 RCV002273122 RCV002289048 RCV001781495 RCV003474811 RCV001261932 RCV005430502 RCV002306459 RCV002306507 RCV002306574 RCV002306597 RCV002306646 RCV002306664 RCV002306675 RCV002309581 RCV002309590 RCV002309605 RCV002309617 RCV002309667 RCV002309756 RCV002309803 RCV002309807 RCV002309837 RCV002309862 RCV002309865 RCV002309901 RCV002309915 RCV002309928 RCV002309965 RCV002309969 RCV002310000 RCV002310044 RCV002310061 RCV002307872 RCV002307882 RCV002307915 RCV002307923 RCV002307947 RCV002307961 RCV002307978 RCV002308021 RCV002308072 RCV002308131 RCV002308138 RCV002308212 RCV002308240 RCV002308244 RCV002308252 RCV002308271 RCV002308282 RCV002308327 RCV002309012 RCV002309041 RCV002309089 RCV002309100 RCV002309140 RCV002309141 RCV002309145 RCV002309157 RCV002309169 RCV002309201 RCV002309203 RCV002309212 RCV002309226 RCV002309250 RCV002309343 RCV002309373 RCV002309392 RCV002309479 RCV002309497 RCV002309532 RCV002306840 RCV002306855 RCV002306870 RCV002306871 RCV002306909 RCV002306977 RCV002307060 RCV002307095 RCV002307165 RCV002307201 RCV002307206 RCV002307235 RCV002307244 RCV002307257 RCV002307309 RCV002307311 RCV002307312 RCV002307335 RCV002310064 RCV002310180 RCV002310182 RCV002310225 RCV002310238 RCV002310245 RCV002310317 RCV002310320 RCV002310321 RCV002310332 RCV002310347 RCV002310354 RCV002310368 RCV002310372 RCV002310394 RCV002310407 RCV002310429 RCV002310435 RCV002310452 RCV002310467 RCV002310532 RCV002310554 RCV002308394 RCV002308411 RCV002308430 RCV002471293 RCV001331702 RCV002471406 RCV002471489 RCV002471641 RCV002471703 RCV002470613 RCV003462264 RCV002492694 RCV001331692 RCV002272153 RCV001374661 RCV001542752 RCV002492692 RCV005603604 RCV001283774 RCV003398869 RCV003152689 RCV002498843 RCV003462270 RCV003468840 RCV004572719 RCV005045251 RCV003459741 RCV004572753 RCV005870023 RCV001535891 RCV003137490 RCV003460425 RCV002496252 RCV003460426 RCV001198369 RCV003468862 RCV001781535 RCV004572848 RCV002503686 RCV003462287 RCV002500505 RCV003474935 RCV002267610 RCV003464576 RCV003465802 RCV003464577 RCV004571207 RCV005044949 RCV003464587 RCV005044988 RCV005034405 RCV003462297 RCV003465857 RCV003464632 RCV004567411 RCV003334405 RCV005034586 RCV003459708 RCV003465914 RCV003131193 RCV003131197 RCV003152985 RCV001782763 RCV003230784 RCV003463750 RCV001810443 RCV003314511 RCV003326288 RCV003459859 RCV003459857 RCV003472453 RCV003472455 RCV003472456 RCV003472457 RCV003472458 RCV003472459 RCV003472460 RCV003472461 RCV003472462 RCV003472465 RCV003463235 RCV003463236 RCV003471662 RCV003463237 RCV003463238 RCV003463239 RCV003463240 RCV003471663 RCV003463241 RCV003471664 RCV003463242 RCV003471665 RCV003471666 RCV003471667 RCV003471668 RCV003463243 RCV003471669 RCV003463244 RCV003471670 RCV003463245 RCV003463246 RCV003463247 RCV003463248 RCV003463249 RCV003471671 RCV003471672 RCV003471673 RCV003471674 RCV003463251 RCV003463252 RCV003463253 RCV003463254 RCV003471675 RCV003471676 RCV003463255 RCV003463256 RCV003463257 RCV003463258 RCV003463259 RCV003463260 RCV003463261 RCV003463262 RCV003471677 RCV003463263 RCV003471678 RCV003463265 RCV003471679 RCV003463266 RCV003463267 RCV003463269 RCV003463270 RCV003471680 RCV003471681 RCV003471682 RCV003471683 RCV003463272 RCV003463273 RCV003463274 RCV003471684 RCV003463275 RCV003471685 RCV003463276 RCV003463277 RCV003471686 RCV003463278 RCV003463279 RCV003463280 RCV003463281 RCV003471687 RCV003463282 RCV003471688 RCV003463283 RCV003463284 RCV003463285 RCV003463286 RCV003471689 RCV003463287 RCV003463288 RCV003463289 RCV003463290 RCV003463291 RCV003471691 RCV003471692 RCV003471693 RCV003463294 RCV003471694 RCV003463295 RCV003471695 RCV003463296 RCV003463297 RCV003463298 RCV003463299 RCV003471696 RCV003471697 RCV003471698 RCV003471699 RCV003471700 RCV004574053 RCV003493241 RCV003493242 RCV003493243 RCV003493244 RCV003493325 RCV006249881 RCV004574065 RCV005047699 RCV006257381 RCV004574124 RCV004554269 RCV006249895 RCV005036929 RCV004573200 RCV004573192 RCV002502379 RCV002504175 RCV004573257 RCV005044580 RCV003984905 RCV003994726 RCV004547254 RCV004566459 RCV004549025 RCV004555295 RCV004555330 RCV004574539 RCV004574540 RCV004574541 RCV004574542 RCV004574543 RCV004574544 RCV004574545 RCV004574546 RCV004574547 RCV004574548 RCV004574549 RCV004574550 RCV004574551 RCV004574552 RCV004574553 RCV004574554 RCV004574555 RCV004574556 RCV004574557 RCV004574558 RCV004574559 RCV004574560 RCV004574561 RCV004574562 RCV004574563 RCV004574564 RCV004574566 RCV004574567 RCV004574568 RCV004574569 RCV004574570 RCV004574571 RCV005038724 RCV004595052 RCV004595053 RCV004595227 RCV003470353 RCV002504202 RCV003475963 RCV005430308 RCV005430293 RCV005430339 RCV005430325 RCV005044614 RCV005430333 RCV002470850 RCV002505992 RCV005430341 RCV005430309 RCV003463795 RCV005430299 RCV005430296 RCV005430344 RCV005430337 RCV003463790 RCV005430321 RCV005430301 RCV005430307 RCV005430311 RCV001580492 RCV005430319 RCV002488838 RCV005430306 RCV003463786 RCV005430298 RCV003463808 RCV005430316 RCV005430343 RCV004796163 RCV001332899 RCV002488836 RCV003463799 RCV005430313 RCV003463798 RCV003463803 RCV003475954 RCV005033912 RCV005430312 RCV005430295 RCV003470349 RCV005430305 RCV002488841 RCV002502424 RCV005430330 RCV005033914 RCV003463796 RCV002502426 RCV005430291 RCV003475973 RCV005430302 RCV005430317 RCV003463802 RCV002470849 RCV005430329 RCV005430334 RCV005430320 RCV003475940 RCV005430315 RCV005430338 RCV005430331 RCV005430335 RCV001775118 RCV002481410 RCV001262841 RCV005044666 RCV002496875 RCV001775124 RCV003464070 RCV002506218 RCV005430547 RCV001535924 RCV004568753 RCV002470913 RCV005034156 RCV003465326 RCV003471952 RCV001580522 RCV003471977 RCV003459514 RCV002499047 RCV002499048 RCV001784237 RCV005430681 RCV005430686 RCV005430660 RCV005430440 RCV003459584 RCV003459607 RCV002477493 RCV005430448 RCV005430740 RCV003459569 RCV003387905 RCV004568498 RCV005430405 RCV005430641 RCV002507150 RCV005430401 RCV005430794 RCV005430698 RCV005430663 RCV005430558 RCV003465479 RCV005430820 RCV005034265 RCV005430767 RCV002507152 RCV003459627 RCV003465502 RCV001784270 RCV005430720 RCV003465541 RCV004568550 RCV005430813 RCV005430783 RCV003459639 RCV005430414 RCV005430567 RCV005430732 RCV005430406 RCV003472155 RCV002485554 RCV005430812 RCV005430455 RCV005430778 RCV005430443 RCV005430634 RCV003459631 RCV005430750 RCV003459573 RCV003459637 RCV005430667 RCV005430753 RCV005430742 RCV005430684 RCV005430746 RCV005430428 RCV004568554 RCV005430655 RCV002477480 RCV002499176 RCV005430635 RCV003472098 RCV005430606 RCV005430422 RCV004568521 RCV005430821 RCV005046894 RCV005430736 RCV005430700 RCV002272320 RCV002289952 RCV003472168 RCV003459597 RCV005430386 RCV005430390 RCV005430596 RCV005430394 RCV003472063 RCV005430436 RCV003459590 RCV005430717 RCV003459579 RCV005430614 RCV001784272 RCV005430559 RCV005430727 RCV005430410 RCV004568489 RCV005430555 RCV005430792 RCV002499152 RCV001810482 RCV002493192 RCV002493135 RCV003461001 RCV003465658 RCV002499354 RCV002507294 RCV002485925 RCV001784363 RCV001810485 RCV003467315 RCV003472319 RCV002501020 RCV003461059 RCV002477789 RCV003461058 RCV001810486 RCV003472329 RCV002051894 RCV001810487 RCV003461065 RCV003472328 RCV001353367 RCV003461276 RCV003461086 RCV002478926 RCV003472379 RCV002470987 RCV002290976 RCV003132130 RCV002488076 RCV002505501 RCV002505537 RCV002290984 RCV003467570 RCV002471011 RCV002489514 RCV002290985 RCV003461306 RCV002471012 RCV002290986 RCV003473546 RCV003467572 RCV002290987 RCV003461307 RCV003461308 RCV003461309 RCV002290988 RCV005047217 RCV003473690 RCV005863337 RCV005645200 RCV003469264 RCV002497474 RCV002481854 RCV004570305 RCV002482115 RCV005036354 RCV002497395 RCV003462636 RCV002471039 RCV003462642 RCV004796368 RCV002497676 RCV001195837 RCV001198964 RCV004570413 RCV003462749 RCV001780149 RCV003462722 RCV002051922 RCV005036468 RCV003469389 RCV001780143 RCV002491733 RCV002497800 RCV003469446 RCV001331697 RCV004570644 RCV004570650 RCV003469487 RCV002307718 RCV001290418 RCV002504426 RCV005032106 RCV004570671
Polycystic kidney disease, adult type	Likely pathogenic; Pathogenic	rs760426769	RCV005645170
Pregnancy loss, recurrent, susceptibility to, 3	Pathogenic	rs2151020668	RCV001543163
Renal cyst	Likely pathogenic; Pathogenic	rs2128151491, rs200391019, rs786204707, rs137852944, rs1057518952	RCV001526535 RCV005625351 RCV000415273 RCV005624669 RCV000414774
See cases	Likely pathogenic; Pathogenic	rs2533812777, rs727504096, rs137852944, rs770461067, rs369925690	RCV004584511 RCV004584358 RCV004584312 RCV003985310 RCV003985354
Ventricular hypertrophy	Likely pathogenic; Pathogenic	rs786204707, rs1057518952	RCV000415273 RCV000414774

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs4715272	RCV005887668
Clear cell carcinoma of kidney	Benign; Likely benign	rs7766366	RCV005887670
Colon cancer	Uncertain significance	rs149798764	RCV001263488
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	rs367564272, rs369677008	RCV005898737 RCV005902068
Gastric cancer	Conflicting classifications of pathogenicity	rs200511208	RCV005899120
Hepatocellular carcinoma	Benign	rs4715272, rs139555370	RCV005887667 RCV005887672
Hereditary disease	Conflicting classifications of pathogenicity	rs200497761	RCV001824136
Incidental Discovery	Conflicting classifications of pathogenicity	rs141103838	RCV006268710
Kidney failure	Conflicting classifications of pathogenicity; Uncertain significance	rs147222255, rs201812542	RCV005629851 RCV005629856
Lung cancer	Likely benign; Uncertain significance	rs80047024, rs199552642	RCV005917716 RCV005927232
Malignant tumor of esophagus	Uncertain significance	rs189345248	RCV005901492
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs7766366, rs149522482	RCV005887669 RCV005892097
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs7766366, rs753255216, rs539832575	RCV005887671 RCV005928223 RCV005895893
Prostate cancer	Uncertain significance	rs142346881	RCV000149362
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs111383080, rs150925674	RCV005888441 RCV005893573
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs111383080	RCV005888442

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	34303217
Aneuploidy	Associate	34303217
Biliary Atresia	Associate	19292732
Cakut	Associate	27151922
Capillary Malformation Arteriovenous Malformation	Associate	28814334
Carcinoma Ductal	Associate	19292732
Carcinoma Hepatocellular	Associate	35602894
Carcinoma Renal Cell	Associate	38179759
Cardiomegaly	Associate	33059727
Caroli Disease	Associate	12846734, 14971004, 24710345, 28814334, 32957915, 34536170, 35715958, 38115240
Caroli disease isolated	Associate	24710345
Chemical and Drug Induced Liver Injury	Associate	35715958
Cholangiocarcinoma	Associate	19292732
Chromosomal Instability	Associate	38178618
Ciliopathies	Associate	25966130
Colonic Neoplasms	Associate	21274727, 38178618
Colorectal Neoplasms	Associate	21274727, 30804124, 38178618
Congenital Hypothyroidism	Associate	34536170
Cystic Disease Of Lung	Associate	36691356
Cysts	Associate	32957915
Death	Associate	12846734, 19940839, 30595564
Diabetes Mellitus Type 2	Associate	26634513
Digestive System Diseases	Associate	19292732
Early Onset Glaucoma	Associate	33059727
Epilepsy Benign Neonatal	Associate	19292732
Familial paroxysmal dystonia	Associate	19914852, 24009235
Fetal Death	Associate	34536170
Fibrosis	Associate	19940839
Fibrous Dysplasia of Bone	Associate	33059616
Genetic Diseases Inborn	Associate	24710345
Hepatic Fibrosis Congenital	Associate	12846734, 15698423, 16523049, 19292732, 19914852, 21945273, 23041322, 37872485
Hodgkin Disease	Associate	36691356
Hydrocephalus	Associate	25966130
Hypertension	Associate	15698423, 34536170
Hypertension Portal	Associate	15698423, 23582048
Infant Newborn Diseases	Associate	19292732
Kidney Cortex Necrosis	Associate	19940839
Kidney Diseases	Associate	19914852, 19940839, 27151922, 33059727, 33095447, 35715958
Kidney Diseases Cystic	Associate	32574212, 36573973, 36691356
Kidney Failure Chronic	Associate	15698423, 33059616
Lateral Medullary Syndrome	Associate	20413436
Liver Cirrhosis	Associate	23582048, 34536170
Liver Diseases	Associate	32919899, 33059727, 35211789
Liver Failure	Associate	28814334, 36691356
Metabolic Syndrome	Associate	34801968
Microsatellite Instability	Associate	38178618
Mycoses	Associate	33059727
Neonatal hemochromatosis	Associate	19292732
Neoplasms	Associate	38178618
Neoplasms by Histologic Type	Associate	19940839
Obesity	Associate	30677029
Perinatal Death	Associate	19940839
Peritonitis	Associate	30804124
Polycystic Kidney Autosomal Dominant	Associate	31488014, 38537868
Polycystic Kidney Autosomal Recessive	Associate	11898128, 12846734, 14971004, 15698423, 16199545, 16523049, 18256315, 19292732, 19914852, 19940839, 20413436, 20490649, 21274727, 21945273, 22415584 View all (26 more)
Polycystic Kidney Diseases	Associate	32779812, 33059616, 33437033
Polycystic liver disease	Associate	22415584, 36691356
Renal cell carcinoma 1	Associate	30566001
Renal Insufficiency Chronic	Associate	34536170
Respiratory Insufficiency	Associate	33059727
Sepsis	Associate	37872485
Stroke	Associate	36065636
Syndrome	Associate	27151922

PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)