POLG (DNA polymerase gamma, catalytic subunit)

Gene

• Entrez ID: 5428
• Gene name: DNA polymerase gamma, catalytic subunit
• Gene symbol: POLG
• Synonyms (NCBI Gene): MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
• Chromosome: 15
• Chromosome location: 15q26.1
• Summary: Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutami

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2307437	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant
rs2307440	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs2307448	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Intron variant
rs3087378	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant
rs3176162	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs11546842	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs41549716	T>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs55779802	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs56047213	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61752784	C>G	Uncertain-significance, not-provided, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113994093	C>T	Pathogenic	Missense variant, coding sequence variant
rs113994094	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs113994096	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs113994097	C>G	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs113994098	C>T	Not-provided, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs113994099	T>C	Pathogenic	Missense variant, coding sequence variant
rs115109291	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918044	A>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918045	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918046	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918047	C>A	Pathogenic	Coding sequence variant, stop gained
rs121918048	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918049	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918050	T>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918051	C>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918053	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121918054	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918056	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs138457939	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138917386	C>T	Pathogenic	Splice donor variant
rs138929605	T>A,C,G	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs139488968	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs139590686	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs139599587	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139717885	G>A,C	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs140079523	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs141367015	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141538857	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142347031	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs143631183	C>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs143810171	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs144439703	G>A,C	Likely-pathogenic, benign, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs144500145	G>A	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146936870	G>C,T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147282197	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147407423	G>A	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147563527	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs181860632	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200056162	GAG>-,GAGGAG	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs201477273	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs201732356	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs201749977	A>G	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs202037973	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202039305	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606959	G>A	Pathogenic	Coding sequence variant, missense variant
rs367610201	A>G	Pathogenic	Coding sequence variant, missense variant
rs368435864	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs368587966	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs371334941	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs373550219	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs374937961	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375305567	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs375935084	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376306906	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs377390914	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs531744363	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs548076633	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs550592814	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs551973680	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs555280530	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs562847013	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs566373471	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs568913937	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs745310138	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs745539599	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs747632869	A>T	Likely-pathogenic	Splice donor variant
rs751376824	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs752892262	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs753160398	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs753410045	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs754615624	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs755315398	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs757120802	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs758402960	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs758438414	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs758613718	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs759128787	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs761080016	CGC>-,CGCCGC	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe insertion, inframe deletion, coding sequence variant
rs761649878	G>C	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs763312940	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs763393580	C>G,T	Pathogenic, not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs764036283	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs764287987	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs765472726	C>A,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765916932	A>C,G	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs766465907	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs767138032	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs767708989	G>A	Pathogenic	Stop gained, coding sequence variant
rs767709505	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs769210629	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs769346219	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs769410130	G>A,C	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs769735492	TTGCTGCTG>-,TTGCTGCTGTTGCTGCTG	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Inframe insertion, inframe deletion, coding sequence variant
rs769827124	G>A	Pathogenic, likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs770115219	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs770438363	T>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs771254207	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs774768199	G>A	Pathogenic	Coding sequence variant, stop gained
rs775445970	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs778429780	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs778573169	T>A,C	Pathogenic	Intron variant
rs780953863	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052887	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs796052888	C>T	Pathogenic	Coding sequence variant, missense variant
rs796052889	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052890	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052891	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052892	G>T	Likely-pathogenic	Intron variant
rs796052899	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796052906	G>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs796052907	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052919	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs867038717	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs878854560	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs886041047	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886041276	CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041592	G>A	Pathogenic	Coding sequence variant, missense variant
rs886051522	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs935602068	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs963553787	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1001570418	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1003442806	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1021719232	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517803	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517891	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1064793493	C>G	Pathogenic	Splice acceptor variant
rs1064793800	->AACA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1064794213	->GGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1064794214	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1064794735	GCAGGCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307976	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1254855971	G>A	Pathogenic	Stop gained, coding sequence variant
rs1282521429	->GTCCACGTCGTTGT	Pathogenic	Coding sequence variant, frameshift variant
rs1283198587	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1290567099	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1332921412	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1356604153	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1405268319	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1447799185	C>-,CC,CCCC	Pathogenic	Frameshift variant, coding sequence variant, inframe insertion
rs1484810169	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555452453	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555452461	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555452607	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555452983	T>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs1555453824	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1567185026	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1567185048	->CTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1567185178	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567185468	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567185603	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567185770	G>A	Pathogenic	Coding sequence variant, stop gained
rs1567185775	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567186581	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567186591	A>T	Pathogenic	Coding sequence variant, missense variant
rs1567186613	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567186614	G>A	Pathogenic	Coding sequence variant, missense variant
rs1567186779	T>G	Pathogenic	Coding sequence variant, missense variant
rs1567186787	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567187057	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567187093	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567187103	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs1567187326	C>T	Pathogenic	Splice donor variant
rs1567187745	C>G	Pathogenic	Splice donor variant
rs1567187766	CAT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1567188178	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567188588	C>T	Pathogenic	Splice donor variant
rs1567188632	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567190247	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567192203	C>G	Pathogenic	Splice acceptor variant
rs1567192879	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567192884	->T	Pathogenic	Coding sequence variant, stop gained
rs1567193844	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567194013	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567194243	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1596350117	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596350386	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1596352300	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596352762	A>G	Likely-pathogenic	Splice donor variant
rs1596352895	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596354607	GC>CT	Pathogenic	Intron variant
rs1596359629	->TGTTTGCCCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1596360430	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028963	hsa-miR-26b-5p	Microarray	19088304
MIRT046950	hsa-miR-221-3p	CLASH	23622248
MIRT041750	hsa-miR-484	CLASH	23622248
MIRT039938	hsa-miR-615-3p	CLASH	23622248
MIRT038412	hsa-miR-296-3p	CLASH	23622248
MIRT649332	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT649331	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT649330	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649329	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT649328	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649327	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT649326	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT649325	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT649324	hsa-miR-765	HITS-CLIP	23824327
MIRT649323	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT649321	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT649322	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT649320	hsa-miR-421	HITS-CLIP	23824327
MIRT649318	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT649319	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT649317	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT649316	hsa-miR-4443	HITS-CLIP	23824327
MIRT649315	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT649332	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT649331	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT649330	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649329	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT649328	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649327	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT649326	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT649325	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT649324	hsa-miR-765	HITS-CLIP	23824327
MIRT649323	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT649321	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT649322	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT649320	hsa-miR-421	HITS-CLIP	23824327
MIRT649318	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT649319	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT649317	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT649316	hsa-miR-4443	HITS-CLIP	23824327
MIRT649315	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT1247650	hsa-miR-2682	CLIP-seq
MIRT1247651	hsa-miR-34a	CLIP-seq
MIRT1247652	hsa-miR-34c-5p	CLIP-seq
MIRT1247653	hsa-miR-449a	CLIP-seq
MIRT1247654	hsa-miR-449b	CLIP-seq
MIRT1247655	hsa-miR-449c	CLIP-seq
MIRT1247656	hsa-miR-4514	CLIP-seq
MIRT1247657	hsa-miR-4645-5p	CLIP-seq
MIRT1247658	hsa-miR-4673	CLIP-seq
MIRT1247659	hsa-miR-4692	CLIP-seq
MIRT1247660	hsa-miR-4797-5p	CLIP-seq
MIRT1247661	hsa-miR-2278	CLIP-seq
MIRT1247662	hsa-miR-2355-3p	CLIP-seq
MIRT1247663	hsa-miR-3124-3p	CLIP-seq
MIRT1247664	hsa-miR-3127-3p	CLIP-seq
MIRT1247665	hsa-miR-3679-3p	CLIP-seq
MIRT1247666	hsa-miR-3977	CLIP-seq
MIRT1247667	hsa-miR-4260	CLIP-seq
MIRT1247668	hsa-miR-4272	CLIP-seq
MIRT1247669	hsa-miR-4283	CLIP-seq
MIRT1247670	hsa-miR-4312	CLIP-seq
MIRT1247671	hsa-miR-432	CLIP-seq
MIRT1247672	hsa-miR-4424	CLIP-seq
MIRT1247673	hsa-miR-4452	CLIP-seq
MIRT1247674	hsa-miR-4489	CLIP-seq
MIRT1247675	hsa-miR-4539	CLIP-seq
MIRT1247676	hsa-miR-4642	CLIP-seq
MIRT1247677	hsa-miR-4680-3p	CLIP-seq
MIRT1247678	hsa-miR-4682	CLIP-seq
MIRT1247679	hsa-miR-4781-3p	CLIP-seq
MIRT1247680	hsa-miR-486-5p	CLIP-seq
MIRT1247681	hsa-miR-569	CLIP-seq
MIRT1247682	hsa-miR-579	CLIP-seq
MIRT1247683	hsa-miR-657	CLIP-seq
MIRT1247684	hsa-miR-659	CLIP-seq
MIRT1247685	hsa-miR-676	CLIP-seq
MIRT1247666	hsa-miR-3977	CLIP-seq
MIRT1247682	hsa-miR-579	CLIP-seq
MIRT2456829	hsa-miR-129-3p	CLIP-seq
MIRT2456830	hsa-miR-3122	CLIP-seq
MIRT2456831	hsa-miR-3130-3p	CLIP-seq
MIRT2456832	hsa-miR-3176	CLIP-seq
MIRT2456833	hsa-miR-3652	CLIP-seq
MIRT2456834	hsa-miR-3689a-3p	CLIP-seq
MIRT2456835	hsa-miR-3689c	CLIP-seq
MIRT2456836	hsa-miR-3913-5p	CLIP-seq
MIRT2456837	hsa-miR-3922-3p	CLIP-seq
MIRT2456838	hsa-miR-4293	CLIP-seq
MIRT2456839	hsa-miR-4300	CLIP-seq
MIRT2456840	hsa-miR-4423-3p	CLIP-seq
MIRT2456841	hsa-miR-4430	CLIP-seq
MIRT2456842	hsa-miR-4505	CLIP-seq
MIRT2456843	hsa-miR-450b-5p	CLIP-seq
MIRT1247678	hsa-miR-4682	CLIP-seq
MIRT2456844	hsa-miR-4766-5p	CLIP-seq
MIRT2456845	hsa-miR-507	CLIP-seq
MIRT2456846	hsa-miR-518a-5p	CLIP-seq
MIRT2456847	hsa-miR-527	CLIP-seq
MIRT2456848	hsa-miR-557	CLIP-seq
MIRT2456849	hsa-miR-596	CLIP-seq
MIRT2456850	hsa-miR-767-5p	CLIP-seq
MIRT2456851	hsa-miR-920	CLIP-seq
MIRT2456829	hsa-miR-129-3p	CLIP-seq
MIRT2456832	hsa-miR-3176	CLIP-seq
MIRT2456833	hsa-miR-3652	CLIP-seq
MIRT2456837	hsa-miR-3922-3p	CLIP-seq
MIRT2456840	hsa-miR-4423-3p	CLIP-seq
MIRT2456841	hsa-miR-4430	CLIP-seq
MIRT2456842	hsa-miR-4505	CLIP-seq
MIRT2456829	hsa-miR-129-3p	CLIP-seq
MIRT2456832	hsa-miR-3176	CLIP-seq
MIRT2456833	hsa-miR-3652	CLIP-seq
MIRT2456837	hsa-miR-3922-3p	CLIP-seq
MIRT2456840	hsa-miR-4423-3p	CLIP-seq
MIRT2456841	hsa-miR-4430	CLIP-seq
MIRT2456842	hsa-miR-4505	CLIP-seq
MIRT2456843	hsa-miR-450b-5p	CLIP-seq
MIRT2456845	hsa-miR-507	CLIP-seq
MIRT2456846	hsa-miR-518a-5p	CLIP-seq
MIRT2456847	hsa-miR-527	CLIP-seq
MIRT2456848	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000262	Component	Mitochondrial chromosome	IDA	26253742
GO:0002020	Function	Protease binding	IPI	14739292
GO:0003677	Function	DNA binding	IDA	10608893
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	18063578
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	10608893, 11897778, 15164064, 15177179, 19837034, 19858216, 26056153, 26095671, 26123486, 26446790, 28430993, 37202477
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	26554610
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS	8884268, 9034326
GO:0005515	Function	Protein binding	IPI	10608893, 16263719, 16488880, 17762861, 19837034, 26496610, 28514442, 33855352, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8884268
GO:0005759	Component	Mitochondrial matrix	IDA	19837034
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005760	Component	Gamma DNA polymerase complex	IDA	10608893, 19837034, 19858216, 26056153, 26123486, 26446790, 26554610, 37202477
GO:0005760	Component	Gamma DNA polymerase complex	IEA
GO:0005760	Component	Gamma DNA polymerase complex	IPI	19837034
GO:0006259	Process	DNA metabolic process	TAS	8884268
GO:0006260	Process	DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	IDA	10608893, 15167897, 19837034, 19858216, 26123486, 26446790, 28430993
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	TAS	3619920
GO:0006264	Process	Mitochondrial DNA replication	IBA
GO:0006264	Process	Mitochondrial DNA replication	IDA	19837034
GO:0006264	Process	Mitochondrial DNA replication	IEA
GO:0006264	Process	Mitochondrial DNA replication	IMP	26554610
GO:0006264	Process	Mitochondrial DNA replication	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IDA	9770471
GO:0006287	Process	Base-excision repair, gap-filling	IDA	15177179
GO:0008310	Function	Single-stranded DNA 3'-5' DNA exonuclease activity	IDA	11897778, 26095671
GO:0008310	Function	Single-stranded DNA 3'-5' DNA exonuclease activity	IMP	37202477
GO:0008408	Function	3'-5' exonuclease activity	IBA
GO:0008408	Function	3'-5' exonuclease activity	IDA	28430993
GO:0008408	Function	3'-5' exonuclease activity	IMP	26554610
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	25378300
GO:0034061	Function	DNA polymerase activity	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578, 23275553
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0045004	Process	DNA replication proofreading	IDA	37202477
GO:0045004	Process	DNA replication proofreading	IMP	11897778
GO:0051575	Function	5'-deoxyribose-5-phosphate lyase activity	IDA	9770471
GO:0051575	Function	5'-deoxyribose-5-phosphate lyase activity	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0140640	Function	Catalytic activity, acting on a nucleic acid	IEA

Other IDs

• MIM: 174763
• HGNC: 9179
• e!Ensembl: ENSG00000140521

Protein

• UniProt ID: P54098
• Protein name: DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (5'-deoxyribose-phosphate lyase) (EC 4.2.99.-) (Mitochondrial DNA polymerase catalytic subunit) (PolG-alpha)
• Protein function: Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Replicates both heavy and light strands of the circular mtDNA genome using a single-stranded DNA template, RNA primers and the four deoxyr
• PDB: 3IKM, 4ZTU, 4ZTZ, 5C51, 5C52, 5C53, 8D33, 8D37, 8D3R, 8D42, 8G5I, 8G5J, 8G5K, 8G5L, 8G5M, 8G5N, 8G5O, 8G5P, 8T7E, 8UDK, 8UDL, 8V54, 8V55, 8V5D, 8V5R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18136	DNApol_Exo	121 → 414	DNA mitochondrial polymerase exonuclease domain	Domain
  PF00476	DNA_pol_A	756 → 1185	DNA polymerase family A	Family

• Sequence:

  MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQ
  VLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPL
  PDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGP
  EGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS
  PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMA
  ISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVH
  RLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH
  PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK
  EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQ
  QDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTP
  KLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHC
  LEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT
  ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQ
  AGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAI
  LPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAA
  VLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP
  FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWI
  SLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCIS
  RALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYL
  VREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP
  SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP

• Sequence length: 1239

Pathways

KEGG:

Base excision repair

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of corpus callosum	Likely pathogenic; Pathogenic	rs121918056	RCV000787362	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs201732356	RCV001814095	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute rhabdomyolysis	Likely pathogenic; Pathogenic	rs113994097	RCV005865180	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpers-like hepatocerebral syndrome	Likely pathogenic	rs751676137	RCV000855753	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability	Likely pathogenic; Pathogenic	rs121918049	RCV004760332	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood myocerebrohepatopathy spectrum	Likely pathogenic; Pathogenic	rs201732356, rs2055358006	RCV001263172 RCV001263173	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy	Pathogenic	rs796052908	RCV000449589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs796052908	RCV000449589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Pathogenic; Likely pathogenic	rs144500145, rs113994098, rs121918054	RCV001847829 RCV001847601 RCV001847605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs144500145	RCV001252349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs1567187326	RCV005897316	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MELAS syndrome	Likely pathogenic; Pathogenic	rs778429780	RCV003232989	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs753410045, rs201732356, rs886043241, rs2509206788, rs113994099, rs121918048, rs113994098, rs113994097, rs121918054, rs113994101, rs113994093, rs1131691575, rs1085307741, rs1567184117, rs1335880349, rs767708989	RCV001753589 RCV001753588 RCV001753746 RCV004786941 RCV000508934 RCV004786259 RCV002272018 RCV000508846 RCV000508744 RCV000020479 RCV000020483 RCV000508838 RCV001526408 RCV001756159 RCV001526407 RCV004788155	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome	Likely pathogenic; Pathogenic	rs2509202643, rs201732356, rs796052888, rs745539599, rs753160398, rs113994099, rs121918046, rs121918048, rs113994098, rs121918050, rs121918056, rs267606959, rs796052887, rs2509249174, rs113994093, rs1057517803, rs775576189, rs1354582663, rs775445970	RCV005239496 RCV004700573 RCV003330555 RCV003330554 RCV005431581 RCV005431583 RCV003478975 RCV004579531 RCV004700232 RCV003230362 RCV004586006 RCV004586007 RCV006268077 RCV006269856 RCV004526307 RCV005237397 RCV005431647 RCV005239152 RCV004689813 RCV004702394	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome 4b	Likely pathogenic; Pathogenic	rs761664802, rs1319481399, rs2141806882, rs781311846, rs1466226819, rs2055531147, rs1253517114, rs780379693, rs201732356, rs796052887, rs796052906, rs767709505, rs886041276, rs771623994, rs769827124, rs139590686, rs1468794540, rs2055307723, rs3176179, rs121918044, rs121918046, rs121918048, rs121918049, rs113994098, rs121918050, rs113994097, rs121918054, rs121918056, rs267606959, rs2509274839, rs1567187326, rs2509262137, rs2509277475, rs1299487054, rs142347031, rs139717885, rs867038717, rs1131691575, rs121918051, rs1356604153, rs751376824, rs1354582663, rs778573169, rs1567185048, rs1283198587, rs1567191417, rs1596350117, rs1252078081	RCV005005947 RCV003989692 RCV005006083 RCV005005297 RCV005006313 RCV003490974 RCV005002724 RCV005008709 RCV003984830 RCV005003543 RCV005008119 RCV005008118 RCV005003600 RCV005003603 RCV005008229 RCV001004600 RCV005012966 RCV005012967 RCV005003644 RCV005007843 RCV005003357 RCV005007844 RCV005007845 RCV000014452 RCV000014458 RCV001198081 RCV000768053 RCV000014469 RCV000014471 RCV005013110 RCV005003692 RCV005013134 RCV005006440 RCV004574886 RCV005010308 RCV005010323 RCV005004154 RCV005010403 RCV005010436 RCV005860091 RCV005010461 RCV004546534 RCV005010677 RCV005010726 RCV005004401 RCV005004400 RCV005004399 RCV001004599 RCV005012479	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
mitochondrial hepatopathy	Pathogenic	rs1596359384	RCV000855759	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial neurogastrointestinal encephalomyopathy	Likely pathogenic	rs2055619068	RCV001249204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal seizure	Pathogenic	rs769827124	RCV004819196	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Pathogenic	rs796052908	RCV000449589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLG-related disorder	Likely pathogenic; Pathogenic	rs2055626123, rs781311846, rs920850257, rs201732356, rs144500145, rs767709505, rs796052899, rs369549749, rs771623994, rs769827124, rs139590686, rs121918044, rs121918049, rs113994098, rs113994097, rs121918054, rs1567187326, rs2509264996, rs2509216498, rs142347031, rs761649878, rs1131691575, rs1085307741, rs778429780, rs1555452983, rs375305567, rs775576189, rs1282521429, rs1567188178, rs1254855971, rs764287987, rs756325504, rs139562274	RCV006439018 RCV006442441 RCV006442477 RCV006439742 RCV004526636 RCV006439750 RCV000779176 RCV003226732 RCV006439905 RCV006439904 RCV000306622 RCV006439571 RCV000778451 RCV000363602 RCV000313739 RCV000370280 RCV005407216 RCV005433518 RCV004586316 RCV004800399 RCV003492040 RCV006443530 RCV006438096 RCV003330728 RCV006438103 RCV005418172 RCV006438204 RCV004526756 RCV006440093 RCV006440100 RCV005418332 RCV006440092 RCV006440165	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Likely pathogenic; Pathogenic	rs761664802, rs2141806882, rs781311846, rs1466226819, rs2055531147, rs1253517114, rs1567187837, rs780379693, rs796052888, rs144500145, rs796052887, rs796052906, rs767709505, rs769410130, rs886041276, rs771623994, rs769827124, rs139590686, rs1468794540, rs2055307723, rs3176179, rs113994099, rs121918044, rs121918046, rs121918048, rs121918049, rs113994098, rs121918050, rs113994097, rs121918051, rs121918054, rs121918055, rs121918056, rs2509274839, rs1567187326, rs2509262137, rs2509277475, rs142347031, rs139717885, rs867038717, rs1131691575, rs1356604153, rs751376824, rs1555453538, rs1354582663, rs778573169, rs1567185048, rs1283198587, rs1567186779, rs1567191417, rs1252078081, rs775260762	RCV005005947 RCV005006083 RCV005005297 RCV005006313 RCV003490974 RCV005002724 RCV002291441 RCV005008709 RCV003137764 RCV004786515 RCV005003543 RCV005008119 RCV005008118 RCV001332170 RCV005003600 RCV005003603 RCV005008229 RCV005003601 RCV005012966 RCV005012967 RCV005003644 RCV000014439 RCV005007843 RCV005003357 RCV005007844 RCV005007845 RCV000678386 RCV005007847 RCV002247336 RCV000014462 RCV000768053 RCV000014468 RCV005007850 RCV005013110 RCV005003692 RCV005013134 RCV005006440 RCV005010308 RCV005010323 RCV005004154 RCV005010403 RCV005010436 RCV005004195 RCV005010461 RCV000678335 RCV005004274 RCV005010677 RCV005010726 RCV005004401 RCV005004400 RCV000758456 RCV005004399 RCV005012479 RCV003514462	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Likely pathogenic; Pathogenic	rs761664802, rs2141806882, rs781311846, rs1466226819, rs2055531147, rs1253517114, rs780379693, rs796052887, rs796052906, rs767709505, rs769410130, rs886041276, rs771623994, rs769827124, rs139590686, rs1468794540, rs2055307723, rs3176179, rs121918044, rs121918045, rs121918046, rs121918048, rs121918049, rs113994098, rs121918050, rs113994097, rs121918054, rs121918056, rs2509274839, rs1567187326, rs2509262137, rs2509277475, rs142347031, rs139717885, rs867038717, rs1131691575, rs121918051, rs1356604153, rs751376824, rs1354582663, rs778573169, rs1567185048, rs1283198587, rs1567191417, rs1252078081, rs2055630470	RCV005005947 RCV005006083 RCV005005297 RCV005006313 RCV003490974 RCV005002724 RCV005008709 RCV005003543 RCV002288793 RCV005008118 RCV000995844 RCV005003600 RCV005003603 RCV000626194 RCV005003601 RCV005012966 RCV005012967 RCV005003644 RCV000014444 RCV000014445 RCV005003357 RCV005007844 RCV005007845 RCV000014449 RCV005007847 RCV005007848 RCV000014467 RCV005007850 RCV005013110 RCV005003692 RCV005013134 RCV005006440 RCV005010308 RCV005010323 RCV005004154 RCV005010403 RCV005010436 RCV005004195 RCV005010461 RCV005004274 RCV005010677 RCV005010726 RCV005004401 RCV005004400 RCV005004399 RCV005012479 RCV001264386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic	Pathogenic	rs113994098	RCV000014450	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive sclerosing poliodystrophy	Likely pathogenic; Pathogenic	rs2055524549, rs2152061668, rs2152063421, rs2152067781, rs1473911378, rs761664802, rs1319481399, rs2055626123, rs1483201828, rs2141806882, rs781311846, rs2152065937, rs2152062443, rs1159974816, rs2055309922, rs2152056369, rs2152063472, rs750514687, rs1442498340, rs2055359441, rs2152061226, rs2152068651, rs749799663, rs2152058768, rs774474723, rs2152060929, rs1466226819, rs2152067996, rs2141815273, rs2055531147, rs1253517114, rs2152065935, rs2152065886, rs920850257, rs2152061062, rs2509216852, rs2509275684, rs138917386, rs1406911104, rs2509203709, rs780379693, rs2509202643, rs139562274, rs56047213, rs753410045, rs201732356, rs796052888, rs144500145, rs796052887, rs796052919, rs796052906, rs767709505, rs796052908, rs769410130, rs796052899, rs2509276392, rs2509261166, rs1232362461, rs2509183959, rs2509274602, rs1348641548, rs2509203728, rs2509217516, rs2509185174, rs886041276, rs771623994, rs202039305, rs753160398, rs769827124, rs886041592, rs139590686, rs886043241, rs2509206788, rs2509262240, rs2509260328, rs2509204042, rs2509253189, rs1326779034, rs2509260144, rs2509207680, rs1468794540, rs2055626493, rs2055307723, rs2509223240, rs1010372555, rs1596348547, rs2509262414, rs2509216634, rs2509184108, rs2509256201, rs2509248353, rs3176179, rs2509265266, rs2509256107, rs752920956, rs2509233602, rs2055536585, rs2509275138, rs2509248856, rs113994099, rs121918044, rs121918046, rs121918048, rs121918049, rs113994098, rs121918047, rs121918050, rs113994097, rs121918051, rs1567185775, rs121918054, rs121918056, rs267606959, rs1567187745, rs1596352071, rs2509216493, rs2509232352, rs2509232156, rs2509184679, rs2509223374, rs2055628382, rs759284625, rs2509217554, rs1567185212, rs2055386406, rs1064794214, rs2509218972, rs2509187011, rs1064793493, rs2509248765, rs2509227095, rs2509262236, rs2509249045, rs2509255999, rs2055533504, rs2509252822, rs2509261900, rs2509207448, rs121918053, rs2509260376, rs2509265618, rs2509252746, rs2509255117, rs2509233969, rs372740330, rs2055502246, rs2509234272, rs200132079, rs2509217738, rs749765817, rs2509277695, rs2509186369, rs2509253445, rs765339802, rs2055531567, rs2509248512, rs2509274839, rs1314787391, rs2509182728, rs2509256349, rs1567187326, rs2509248363, rs2509262137, rs775248939, rs2509277006, rs2509201560, rs2509277475, rs2509252741, rs2509264996, rs2509265601, rs1299487054, rs2509265966, rs113994093, rs1057517803, rs1057518035, rs142347031, rs1057517891, rs139717885, rs867038717, rs780953863, rs761649878, rs1555452453, rs1555452461, rs1064793800, rs747632869, rs1064794735, rs1131691575, rs1085307741, rs765916932, rs778429780, rs1356604153, rs375305567, rs751376824, rs1447799185, rs1555452607, rs775576189, rs1555453824, rs1354582663, rs1282521429, rs1567184117, rs1567193844, rs778573169, rs1567192203, rs1335880349, rs774768199, rs754844175, rs778115255, rs1567185026, rs1567185048, rs1567185178, rs140079523, rs767708989, rs1567185603, rs1567185770, rs1567186581, rs1567186591, rs1567186613, rs1567186614, rs935602068, rs1283198587, rs1567186787, rs1567187057, rs1567187093, rs775445970, rs1567187103, rs1567187766, rs1567188178, rs1254855971, rs1567188632, rs764287987, rs1567191094, rs1567191417, rs1567191474, rs960142425, rs1567192879, rs1567192884, rs1567194013, rs1567194243, rs756325504, rs1567188588, rs1596354607, rs1596350386, rs1596360430, rs1596352762, rs763393580, rs755315398, rs1596359629, rs1021719232, rs1596348443, rs1596352895, rs1596350117, rs1332921412, rs1252078081, rs775260762, rs2055503614, rs2055505065, rs2055625602, rs1465650547, rs2055345819, rs2055630470	RCV001332165 RCV001367160 RCV001386591 RCV001389357 RCV001390462 RCV002564259 RCV004596467 RCV003626676 RCV003626680 RCV005006083 RCV002542788 RCV001943891 RCV001970249 RCV001918974 RCV001925518 RCV001960578 RCV002000611 RCV001917522 RCV001949314 RCV001989774 RCV002000149 RCV001912854 RCV001957402 RCV001916204 RCV002007520 RCV001962884 RCV001939367 RCV001877576 RCV001939704 RCV001970028 RCV001956362 RCV001956442 RCV001949327 RCV001956083 RCV001927899 RCV002286486 RCV002292198 RCV003514555 RCV002617624 RCV002617170 RCV002715795 RCV002740529 RCV001878352 RCV001857636 RCV002514035 RCV000758420 RCV001059624 RCV000758451 RCV000633537 RCV000758305 RCV000758426 RCV000702972 RCV002517886 RCV000758260 RCV000758271 RCV000758269 RCV002824674 RCV002851670 RCV002866545 RCV002847998 RCV002895382 RCV002909910 RCV003019300 RCV003055508 RCV003225607 RCV005090326 RCV000758422 RCV000758262 RCV000758268 RCV000547242 RCV000985201 RCV000633543 RCV003463763 RCV003514642 RCV003463325 RCV003463326 RCV003463327 RCV003463329 RCV003463330 RCV003463331 RCV003463332 RCV003463333 RCV003463334 RCV003463335 RCV003471715 RCV003463336 RCV003463337 RCV003471716 RCV003463338 RCV003463339 RCV003471717 RCV003463340 RCV003471718 RCV003471719 RCV003471720 RCV003471721 RCV003463341 RCV003463342 RCV003463343 RCV003463344 RCV000758267 RCV000626287 RCV001382679 RCV000758263 RCV000226986 RCV000014451 RCV000014453 RCV002513043 RCV000014461 RCV003460472 RCV000014465 RCV000233045 RCV000525480 RCV000014470 RCV003514674 RCV003514676 RCV003514766 RCV003515308 RCV003515310 RCV003515554 RCV003515532 RCV003515534 RCV003515570 RCV003514195 RCV003514205 RCV003516366 RCV003516367 RCV003516368 RCV003516369 RCV003516371 RCV003514888 RCV003515188 RCV003515250 RCV003514905 RCV003515252 RCV003515259 RCV003515837 RCV003515840 RCV003515813 RCV003516092 RCV003626885 RCV003627012 RCV003626909 RCV003626973 RCV003627020 RCV003627593 RCV003627066 RCV003627819 RCV003627864 RCV003627802 RCV003627853 RCV003627951 RCV003628031 RCV003628071 RCV003628169 RCV003628130 RCV003628146 RCV003628295 RCV003628421 RCV003628431 RCV003626232 RCV003626289 RCV003626317 RCV003626318 RCV003626311 RCV003626199 RCV003626237 RCV003627176 RCV003627485 RCV003627563 RCV003873267 RCV004574589 RCV004574590 RCV004574591 RCV004574592 RCV004574593 RCV004574594 RCV004574596 RCV004574886 RCV005102008 RCV003514301 RCV001865283 RCV000758490 RCV000821077 RCV003626616 RCV000758261 RCV000758415 RCV001861504 RCV000758419 RCV001336497 RCV000690284 RCV001389063 RCV003464028 RCV001389575 RCV000814983 RCV000758421 RCV000758459 RCV000758455 RCV002524270 RCV000758310 RCV000660508 RCV001226304 RCV000538511 RCV000526093 RCV000534104 RCV002529053 RCV005004274 RCV005010677 RCV000700867 RCV000686623 RCV000688138 RCV000758418 RCV003461008 RCV001037377 RCV003461011 RCV000758330 RCV000758430 RCV000758280 RCV000758279 RCV000758472 RCV000758466 RCV000758278 RCV000758277 RCV000758275 RCV000758462 RCV000758460 RCV000758265 RCV000758264 RCV000758457 RCV000758274 RCV000758316 RCV000758309 RCV000758450 RCV000758417 RCV000758429 RCV000758304 RCV000758302 RCV000758425 RCV000758423 RCV000758439 RCV000758294 RCV000758489 RCV000758273 RCV000758436 RCV000758414 RCV000758270 RCV000758432 RCV000758480 RCV000758448 RCV000758281 RCV000758428 RCV000758427 RCV000758424 RCV000758563 RCV000794071 RCV000803087 RCV000792937 RCV000855760 RCV000855756 RCV000855757 RCV000855758 RCV003461299 RCV003467557 RCV003461301 RCV001004599 RCV003461313 RCV001048162 RCV001065150 RCV001212885 RCV001205837 RCV001202188 RCV001233059 RCV001240587 RCV001244608 RCV001262612 RCV001388404	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recessive mitochondrial ataxia syndrome	Likely pathogenic	rs201732356	RCV004798801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Likely pathogenic; Pathogenic	rs761664802, rs2141806882, rs781311846, rs1159974816, rs1466226819, rs2055531147, rs1253517114, rs780379693, rs201732356, rs796052887, rs796052906, rs767709505, rs796052899, rs886041276, rs771623994, rs769827124, rs139590686, rs1468794540, rs2055307723, rs3176179, rs121918044, rs121918046, rs121918048, rs121918049, rs113994098, rs121918050, rs113994097, rs121918054, rs121918056, rs2509274839, rs1567187326, rs2509262137, rs2509277475, rs1299487054, rs142347031, rs139717885, rs867038717, rs1131691575, rs121918051, rs1356604153, rs751376824, rs1354582663, rs778573169, rs1567185048, rs1283198587, rs1567191417, rs139562274, rs1484810169, rs1596348443, rs1596352895, rs1596358408, rs1252078081, rs2055536585	RCV005005947 RCV005006083 RCV005005297 RCV003502611 RCV005006313 RCV003490974 RCV005002724 RCV005008709 RCV005252129 RCV005003543 RCV005008119 RCV005008118 RCV002288792 RCV005003600 RCV005003603 RCV001263147 RCV005003601 RCV005012966 RCV005012967 RCV005003644 RCV005007843 RCV000014446 RCV000014454 RCV000014455 RCV001027839 RCV005007847 RCV000014459 RCV000768053 RCV005007850 RCV005013110 RCV005003692 RCV005013134 RCV005006440 RCV004574886 RCV005010308 RCV003147454 RCV005004154 RCV005010403 RCV005010436 RCV005004195 RCV005010461 RCV005004274 RCV005010677 RCV005010726 RCV005004401 RCV005004400 RCV005004399 RCV000855761 RCV000855755 RCV000995841 RCV000995842 RCV000995843 RCV005012479 RCV004768907	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia with epilepsy	Likely pathogenic; Pathogenic	rs113994097	RCV000014460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs2509216493	RCV005931284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic; Pathogenic	rs139590686, rs121918054, rs780953863	RCV001848045 RCV003318542 RCV003319987	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive progressive external ophthalmoplegia	Benign; Likely benign	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPTOCORMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth disease axonal type 2U	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONVULSIONS IN THE NEWBORN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset Parkinson disease 20	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EEG abnormality	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Failure to thrive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary skeletal muscle disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Idiopathic camptocormia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA depletion syndrome 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL ENCEPHALOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 20, EARLY-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary progressive multiple sclerosis	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar atrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations