Stub1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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225 records found for search term Stub1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151729954	CV1517730	single nucleotide variant	NM_005861.4(STUB1):c.*94C>T	not provided [RCV002052345]	benign	16	682583	682583	Human		name
155716605	CV1780511	single nucleotide variant	NM_005861.4(STUB1):c.-96C>T	not provided [RCV002306116]	likely benign	16	680430	680430	Human		name
13534191	CV512989	single nucleotide variant	NM_005861.4(STUB1):c.*240T>C	Autosomal recessive spinocerebellar ataxia 16 [RCV000625522]	likely pathogenic	16	682729	682729	Human	1	name
150447480	CV1015239	single nucleotide variant	NM_005861.4(STUB1):c.525-8A>G	Autosomal recessive spinocerebellar ataxia 16 [RCV001647175]	uncertain significance	16	681785	681785	Human	1	name
150412277	CV1175454	deletion	NM_005861.4(STUB1):c.786+8del	Autosomal recessive spinocerebellar ataxia 16 [RCV001544332]\|Spinocerebellar ataxia 48 [RCV001544331]\|not provided [RCV001685494]	benign	16	682288	682288	Human	2	name
153346809	CV1691224	single nucleotide variant	NM_005861.4(STUB1):c.525-1G>A	Spinocerebellar ataxia 48 [RCV002272705]	likely pathogenic	16	681792	681792	Human	1	name
156344618	CV1907686	single nucleotide variant	NM_005861.4(STUB1):c.160-4C>T	not provided [RCV003090563]	likely benign	16	681148	681148	Human		name
156253141	CV2082688	single nucleotide variant	NM_005861.4(STUB1):c.669+7G>T	not provided [RCV002877014]	likely benign	16	682083	682083	Human		name
405176781	CV2860951	single nucleotide variant	NM_005861.4(STUB1):c.669+9G>T	not provided [RCV003542828]	likely benign	16	682085	682085	Human		name
405165001	CV3018732	single nucleotide variant	NM_005861.4(STUB1):c.160-5C>G	not provided [RCV003704238]	uncertain significance	16	681147	681147	Human		name
405002663	CV3120673	single nucleotide variant	NM_005861.4(STUB1):c.524+3G>A	not provided [RCV003828276]	uncertain significance	16	681606	681606	Human		name
405140798	CV3155176	single nucleotide variant	NM_005861.4(STUB1):c.525-4C>T	not provided [RCV003855414]	likely benign	16	681789	681789	Human		name
405257137	CV3222411	single nucleotide variant	NM_005861.4(STUB1):c.669+2T>C	Spinocerebellar ataxia 48 [RCV003985717]	uncertain significance	16	682078	682078	Human	1	name
407475916	CV3416240	single nucleotide variant	NM_005861.4(STUB1):c.613-8C>T	not provided [RCV004599118]	uncertain significance	16	682012	682012	Human		name
597834330	CV3735248	single nucleotide variant	NM_005861.4(STUB1):c.669+4A>T	Spinocerebellar ataxia 48 [RCV005054980]	uncertain significance	16	682080	682080	Human	1	name
597964144	CV3830399	single nucleotide variant	NM_005861.4(STUB1):c.612+8T>C	not provided [RCV005164539]	likely benign	16	681888	681888	Human		name
598208491	CV3916083	single nucleotide variant	NM_005861.4(STUB1):c.786+5G>C	Inborn genetic diseases [RCV005291492]	uncertain significance	16	682286	682286	Human	1	name
616933264	CV4012888	single nucleotide variant	NM_005861.4(STUB1):c.524+5G>C	Autosomal recessive spinocerebellar ataxia 16 [RCV005410352]	uncertain significance	16	681608	681608	Human	1	name
126740571	CV1018131	single nucleotide variant	NM_005861.4(STUB1):c.612+11C>G	Autosomal recessive spinocerebellar ataxia 16 [RCV001329471]	uncertain significance	16	681891	681891	Human	1	name
150512372	CV1212976	single nucleotide variant	NM_005861.4(STUB1):c.525-68T>G	not provided [RCV001598208]	benign	16	681725	681725	Human		name
150516814	CV1227253	single nucleotide variant	NM_005861.4(STUB1):c.525-22C>T	not provided [RCV001639353]	benign	16	681771	681771	Human		name
155268597	CV1705424	single nucleotide variant	NM_005861.4(STUB1):c.612+53G>A	not provided [RCV002286029]	likely benign	16	681933	681933	Human		name
155645894	CV1709250	single nucleotide variant	NM_005861.4(STUB1):c.613-67G>A	not provided [RCV002292126]	likely benign	16	681953	681953	Human		name
156124164	CV1953052	single nucleotide variant	NM_005861.4(STUB1):c.160-16C>G	not provided [RCV002571981]	likely benign	16	681136	681136	Human		name
156415486	CV1958580	single nucleotide variant	NM_005861.4(STUB1):c.670-15G>T	not provided [RCV002589195]	likely benign	16	682150	682150	Human		name
156416623	CV1976727	single nucleotide variant	NM_005861.4(STUB1):c.359-20G>C	not provided [RCV002589787]	likely benign	16	681418	681418	Human		name
156256355	CV2041277	single nucleotide variant	NM_005861.4(STUB1):c.669+13C>T	not provided [RCV002806180]	benign	16	682089	682089	Human		name
156014832	CV2047845	single nucleotide variant	NM_005861.4(STUB1):c.669+14G>C	not provided [RCV002795296]	benign	16	682090	682090	Human		name
156361601	CV2119515	duplication	NM_005861.4(STUB1):c.612+15dup	not provided [RCV002967015]	benign	16	681889	681890	Human		name
405160923	CV2951294	single nucleotide variant	NM_005861.4(STUB1):c.612+16A>G	not provided [RCV003670723]	likely benign	16	681896	681896	Human		name
405113948	CV3115372	single nucleotide variant	NM_005861.4(STUB1):c.787-17C>T	not provided [RCV003814054]	likely benign	16	682347	682347	Human		name
404982629	CV3121517	single nucleotide variant	NM_005861.4(STUB1):c.670-20C>T	not provided [RCV003826316]	likely benign	16	682145	682145	Human		name
405174343	CV3123011	single nucleotide variant	NM_005861.4(STUB1):c.669+14G>A	not provided [RCV003819409]	likely benign	16	682090	682090	Human		name
405148716	CV3123195	single nucleotide variant	NM_005861.4(STUB1):c.786+11C>T	not provided [RCV003817428]	likely benign	16	682292	682292	Human		name
405213893	CV3127634	single nucleotide variant	NM_005861.4(STUB1):c.525-17T>C	not provided [RCV003823682]	likely benign	16	681776	681776	Human		name
405203280	CV3143954	single nucleotide variant	NM_005861.4(STUB1):c.525-19G>A	not provided [RCV003844744]	likely benign	16	681774	681774	Human		name
405236268	CV3166350	single nucleotide variant	NM_005861.4(STUB1):c.787-16C>T	not provided [RCV003853799]	likely benign	16	682348	682348	Human		name
404993087	CV3176363	single nucleotide variant	NM_005861.4(STUB1):c.359-20G>A	not provided [RCV003881795]	likely benign	16	681418	681418	Human		name
597853594	CV3747523	single nucleotide variant	NM_005861.4(STUB1):c.612+10C>T	not provided [RCV005066534]	likely benign	16	681890	681890	Human		name
597849668	CV3761706	single nucleotide variant	NM_005861.4(STUB1):c.358+14C>T	not provided [RCV005087802]	likely benign	16	681364	681364	Human		name
597866464	CV3834464	single nucleotide variant	NM_005861.4(STUB1):c.358+12A>G	not provided [RCV005175831]	likely benign	16	681362	681362	Human		name
617152479	CV4017976	single nucleotide variant	NM_005861.4(STUB1):c.670-19G>A	not specified [RCV005417766]	likely benign	16	682146	682146	Human		name
150495425	CV1282940	single nucleotide variant	NM_005861.4(STUB1):c.160-197A>T	not provided [RCV001717372]	benign	16	680955	680955	Human		name
150514894	CV1285357	single nucleotide variant	NM_005861.4(STUB1):c.159+146C>T	not provided [RCV001722810]	benign	16	680830	680830	Human	1	name
150514894	CV1285357	single nucleotide variant	NM_005861.4(STUB1):c.159+146C>T	not provided [RCV001722810]	benign	16	680830	680831	Human	1	name
155267305	CV1699535	single nucleotide variant	NM_005861.4(STUB1):c.159+195G>C	not provided [RCV002283330]	likely benign	16	680879	680879	Human		name
402474961	CV3182843	microsatellite	NM_005861.4(STUB1):c.669+5GT[3]	not provided [RCV003875087]	likely benign	16	682081	682082	Human		name
152977939	CV1671300	deletion	NM_005861.4(STUB1):c.612+4_612+46del	Autosomal recessive spinocerebellar ataxia 16 [RCV002226974]	uncertain significance	16	681877	681919	Human	1	name
156417117	CV1970214	single nucleotide variant	NM_005861.4(STUB1):c.15G>A (p.Glu5=)	not provided [RCV002590035]	likely benign	16	680540	680540	Human		name
155996188	CV2064044	single nucleotide variant	NM_005861.4(STUB1):c.57C>T (p.Ser19=)	not provided [RCV002843192]	likely benign	16	680582	680582	Human		name
156335907	CV2191975	single nucleotide variant	NM_005861.4(STUB1):c.60C>A (p.Pro20=)	not provided [RCV003063963]	likely benign	16	680585	680585	Human		name
405240946	CV3060978	single nucleotide variant	NM_005861.4(STUB1):c.60C>G (p.Pro20=)	not provided [RCV003737244]	likely benign	16	680585	680585	Human		name
405268906	CV3201146	single nucleotide variant	NM_005861.4(STUB1):c.60C>T (p.Pro20=)	STUB1-related disorder [RCV003899253]	likely benign	16	680585	680585	Human		name , trait , alternate_id
407573432	CV3499210	single nucleotide variant	NM_005861.4(STUB1):c.42C>T (p.Gly14=)	not provided [RCV005103582]\|not specified [RCV004701103]	likely benign	16	680567	680567	Human		name
407573433	CV3499211	single nucleotide variant	NM_005861.4(STUB1):c.42C>A (p.Gly14=)	not specified [RCV004701104]	likely benign	16	680567	680567	Human		name
596927432	CV3536697	single nucleotide variant	NM_005861.4(STUB1):c.3G>T (p.Met1Ile)	Spinocerebellar ataxia 48 [RCV004790107]	likely pathogenic	16	680528	680528	Human	1	name
401748344	CV2696603	single nucleotide variant	NM_005861.4(STUB1):c.25G>A (p.Gly9Ser)	Inborn genetic diseases [RCV003242492]	uncertain significance	16	680550	680550	Human	1	name
405176514	CV3023795	single nucleotide variant	NM_005861.4(STUB1):c.243C>T (p.Ala81=)	not provided [RCV003705140]	likely benign	16	681235	681235	Human		name
407428248	CV3410143	single nucleotide variant	NM_005861.4(STUB1):c.144C>T (p.Cys48=)	not specified [RCV004587750]	likely benign	16	680669	680669	Human		name
596932857	CV3539509	single nucleotide variant	NM_005861.4(STUB1):c.13G>A (p.Glu5Lys)	not provided [RCV004794134]	uncertain significance	16	680538	680538	Human		name
597875026	CV3813061	single nucleotide variant	NM_005861.4(STUB1):c.198G>A (p.Arg66=)	not provided [RCV005148997]	likely benign	16	681190	681190	Human		name
40889693	CV975439	deletion	NM_005861.4(STUB1):c.65del (p.Lys22fs)	not provided [RCV001268123]	pathogenic	16	680589	680589	Human		name
155704169	CV1771257	single nucleotide variant	NM_005861.4(STUB1):c.43G>T (p.Ala15Ser)	not provided [RCV002295756]	uncertain significance	16	680568	680568	Human		name
155952713	CV1889591	single nucleotide variant	NM_005861.4(STUB1):c.44C>T (p.Ala15Val)	not provided [RCV002511816]	uncertain significance	16	680569	680569	Human		name
156417250	CV1913278	single nucleotide variant	NM_005861.4(STUB1):c.873C>T (p.Asp291=)	not provided [RCV002610621]	likely benign	16	682450	682450	Human		name
155953116	CV1918215	single nucleotide variant	NM_005861.4(STUB1):c.756C>T (p.Tyr252=)	not provided [RCV002616331]	likely benign	16	682251	682251	Human		name
156441681	CV1941010	single nucleotide variant	NM_005861.4(STUB1):c.870T>C (p.Ile290=)	not provided [RCV003112010]	likely benign	16	682447	682447	Human		name
156115979	CV1952340	single nucleotide variant	NM_005861.4(STUB1):c.543G>A (p.Gln181=)	not provided [RCV002571675]	likely benign	16	681811	681811	Human		name
156158267	CV1967746	single nucleotide variant	NM_005861.4(STUB1):c.636C>T (p.Asp212=)	not provided [RCV002594375]	likely benign	16	682043	682043	Human		name
156009151	CV1981599	single nucleotide variant	NM_005861.4(STUB1):c.31G>A (p.Ala11Thr)	not provided [RCV002618813]	uncertain significance	16	680556	680556	Human		name
156126398	CV2005385	single nucleotide variant	NM_005861.4(STUB1):c.393C>T (p.Phe131=)	not provided [RCV002663053]	likely benign	16	681472	681472	Human		name
156367842	CV2007456	single nucleotide variant	NM_005861.4(STUB1):c.876A>C (p.Ala292=)	not provided [RCV002676688]	likely benign	16	682453	682453	Human		name
155933395	CV2064184	single nucleotide variant	NM_005861.4(STUB1):c.384G>C (p.Arg128=)	not provided [RCV002861270]	likely benign	16	681463	681463	Human		name
155932506	CV2096160	single nucleotide variant	NM_005861.4(STUB1):c.438C>T (p.Arg146=)	not provided [RCV002903908]	likely benign	16	681517	681517	Human		name
156314614	CV2120258	single nucleotide variant	NM_005861.4(STUB1):c.729G>A (p.Pro243=)	not provided [RCV002962822]	likely benign	16	682224	682224	Human		name
156128885	CV2125042	single nucleotide variant	NM_005861.4(STUB1):c.402C>T (p.Asp134=)	not provided [RCV002953801]	likely benign	16	681481	681481	Human		name
401725404	CV2735876	single nucleotide variant	NM_005861.4(STUB1):c.771C>T (p.Ile257=)	not provided [RCV003312319]	likely benign	16	682266	682266	Human		name
401740552	CV2738732	single nucleotide variant	NM_005861.4(STUB1):c.52G>A (p.Gly18Arg)	not provided [RCV003318126]	uncertain significance	16	680577	680577	Human		name
401930174	CV2810725	single nucleotide variant	NM_005861.4(STUB1):c.76G>A (p.Ala26Thr)	not provided [RCV003390594]	uncertain significance	16	680601	680601	Human		name
401930176	CV2810726	single nucleotide variant	NM_005861.4(STUB1):c.303G>T (p.Gly101=)	not provided [RCV003390595]	likely benign	16	681295	681295	Human		name
401904630	CV2810727	single nucleotide variant	NM_005861.4(STUB1):c.552C>T (p.His184=)	not provided [RCV003395131]	likely benign	16	681820	681820	Human		name
401904634	CV2810729	single nucleotide variant	NM_005861.4(STUB1):c.627G>A (p.Ala209=)	not provided [RCV003395133]	likely benign	16	682034	682034	Human		name
405201198	CV2873442	single nucleotide variant	NM_005861.4(STUB1):c.831G>A (p.Gln277=)	not provided [RCV003551403]	likely benign	16	682408	682408	Human		name
402493797	CV2874254	single nucleotide variant	NM_005861.4(STUB1):c.714G>A (p.Glu238=)	not provided [RCV003545184]	likely benign	16	682209	682209	Human		name
405119958	CV2891704	single nucleotide variant	NM_005861.4(STUB1):c.298C>T (p.Leu100=)	not provided [RCV003558984]	likely benign	16	681290	681290	Human		name
405056915	CV2932127	single nucleotide variant	NM_005861.4(STUB1):c.807C>T (p.Pro269=)	not provided [RCV003580191]	likely benign	16	682384	682384	Human		name
405160163	CV2950239	single nucleotide variant	NM_005861.4(STUB1):c.819C>T (p.Ser273=)	not provided [RCV003674624]	likely benign	16	682396	682396	Human		name
404981446	CV3006448	single nucleotide variant	NM_005861.4(STUB1):c.468C>T (p.His156=)	not provided [RCV003691296]	likely benign	16	681547	681547	Human		name
405696138	CV3226696	single nucleotide variant	NM_005861.4(STUB1):c.477C>T (p.Ser159=)	not provided [RCV003993089]	uncertain significance	16	681556	681556	Human		name
597633552	CV3615141	single nucleotide variant	NM_005861.4(STUB1):c.71C>G (p.Pro24Arg)	Inborn genetic diseases [RCV004969123]	uncertain significance	16	680596	680596	Human	1	name
597633559	CV3615143	single nucleotide variant	NM_005861.4(STUB1):c.83A>C (p.Glu28Ala)	Inborn genetic diseases [RCV004969125]	uncertain significance	16	680608	680608	Human	1	name
597908494	CV3739007	single nucleotide variant	NM_005861.4(STUB1):c.777G>A (p.Glu259=)	not provided [RCV005073242]	likely benign	16	682272	682272	Human		name
597949730	CV3746015	single nucleotide variant	NM_005861.4(STUB1):c.903G>A (p.Glu301=)	not provided [RCV005079199]	likely benign	16	682480	682480	Human		name
597873542	CV3747344	single nucleotide variant	NM_005861.4(STUB1):c.702G>A (p.Lys234=)	not provided [RCV005069028]	likely benign	16	682197	682197	Human		name
597963691	CV3754203	single nucleotide variant	NM_005861.4(STUB1):c.849C>T (p.Asn283=)	not provided [RCV005082310]	likely benign	16	682426	682426	Human		name
597975072	CV3832204	single nucleotide variant	NM_005861.4(STUB1):c.303G>A (p.Gly101=)	not provided [RCV005168940]	likely benign	16	681295	681295	Human		name
597926036	CV3840637	single nucleotide variant	NM_005861.4(STUB1):c.465C>A (p.Ile155=)	not provided [RCV005185108]	likely benign	16	681544	681544	Human		name
597831561	CV3863851	duplication	NM_005861.4(STUB1):c.116dup (p.Arg40fs)	Autosomal recessive spinocerebellar ataxia 16 [RCV005208265]	uncertain significance	16	680638	680639	Human	1	name
15135589	CV715023	single nucleotide variant	NM_005861.4(STUB1):c.642T>C (p.Leu214=)	Autosomal recessive spinocerebellar ataxia 16 [RCV002505455]\|not provided [RCV000965313]	benign\|likely benign	16	682049	682049	Human	1	name
42723242	CV985416	single nucleotide variant	NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)	Spinocerebellar ataxia 48 [RCV001293253]	pathogenic	16	680622	680622	Human	1	name
150447486	CV1015237	single nucleotide variant	NM_005861.4(STUB1):c.170C>T (p.Pro57Leu)	Spinocerebellar ataxia 48 [RCV001647176]	likely pathogenic	16	681162	681162	Human	1	name
150447349	CV1015238	single nucleotide variant	NM_005861.4(STUB1):c.199G>A (p.Ala67Thr)	Spinocerebellar ataxia 48 [RCV001647149]	pathogenic	16	681191	681191	Human	1	name
150516479	CV1287378	single nucleotide variant	NM_005861.4(STUB1):c.107T>C (p.Leu36Pro)	not provided [RCV001723357]	uncertain significance	16	680632	680632	Human		name
150528802	CV1288504	single nucleotide variant	NM_005861.4(STUB1):c.182T>C (p.Val61Ala)	not provided [RCV001726972]	uncertain significance	16	681174	681174	Human		name
150554202	CV1296603	single nucleotide variant	NM_005861.4(STUB1):c.116G>A (p.Gly39Asp)	not provided [RCV001770840]	uncertain significance	16	680641	680641	Human		name
151348740	CV1324193	single nucleotide variant	NM_005861.4(STUB1):c.134C>A (p.Ala45Glu)	Spinocerebellar ataxia 48 [RCV001808109]	uncertain significance	16	680659	680659	Human	1	name
151350414	CV1324710	single nucleotide variant	NM_005861.4(STUB1):c.154G>A (p.Ala52Thr)	Spinocerebellar ataxia 48 [RCV001809155]	uncertain significance	16	680679	680679	Human	1	name
151350417	CV1324711	duplication	NM_005861.4(STUB1):c.807dup (p.Val270fs)	Spinocerebellar ataxia 48 [RCV001809156]	likely pathogenic	16	682380	682381	Human	1	name
151350607	CV1325730	single nucleotide variant	NM_005861.4(STUB1):c.195C>G (p.Asn65Lys)	not specified [RCV001815075]	uncertain significance	16	681187	681187	Human		name
8657806	CV132647	single nucleotide variant	NM_005861.4(STUB1):c.235G>A (p.Ala79Thr)	Autosomal recessive spinocerebellar ataxia 16 [RCV000115004]	pathogenic	16	681227	681227	Human	1	name
8657807	CV132648	single nucleotide variant	NM_005861.4(STUB1):c.236C>A (p.Ala79Asp)	Autosomal recessive spinocerebellar ataxia 16 [RCV000115005]	pathogenic	16	681228	681228	Human	1	name
152979617	CV1671870	duplication	NM_005861.4(STUB1):c.778dup (p.His260fs)	Spinocerebellar ataxia 48 [RCV002237203]	likely pathogenic	16	682272	682273	Human	1	name
153303575	CV1690359	single nucleotide variant	NM_005861.4(STUB1):c.146A>G (p.Tyr49Cys)	not provided [RCV002269401]	conflicting interpretations of pathogenicity\|uncertain significance	16	680671	680671	Human		name
9687183	CV171813	single nucleotide variant	NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)	Autosomal recessive spinocerebellar ataxia 16 [RCV000149509]\|Spinocerebellar ataxia 48 [RCV002468569]\|not provided [RCV001575125]	pathogenic\|likely pathogenic	16	681186	681186	Human	2	name
155741292	CV1779923	single nucleotide variant	NM_005861.4(STUB1):c.143G>A (p.Cys48Tyr)	not provided [RCV003546758]\|not specified [RCV002302527]	uncertain significance	16	680668	680668	Human		name
156166629	CV1866909	single nucleotide variant	NM_005861.4(STUB1):c.104G>C (p.Arg35Pro)	not provided [RCV002508461]	uncertain significance	16	680629	680629	Human		name
329951954	CV2668288	single nucleotide variant	NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)	Autosomal recessive spinocerebellar ataxia 16 [RCV003229792]	likely pathogenic	16	681199	681199	Human	1	name
401860563	CV2752305	single nucleotide variant	NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)	Autosomal recessive spinocerebellar ataxia 16 [RCV003336695]	pathogenic	16	681160	681160	Human	1	name
405063896	CV2939828	indel	NM_005861.4(STUB1):c.612+6_612+7delinsTT	not provided [RCV003658983]	uncertain significance	16	681886	681887	Human		name
402509336	CV2994610	single nucleotide variant	NM_005861.4(STUB1):c.145T>G (p.Tyr49Asp)	not provided [RCV003689400]	uncertain significance	16	680670	680670	Human		name
405780512	CV3331002	single nucleotide variant	NM_005861.4(STUB1):c.193A>G (p.Asn65Asp)	Inborn genetic diseases [RCV004458580]	uncertain significance	16	681185	681185	Human	1	name
408366083	CV3500092	single nucleotide variant	NM_005861.4(STUB1):c.111C>G (p.Phe37Leu)	not provided [RCV004722135]	uncertain significance	16	680636	680636	Human		name
598208494	CV3916084	single nucleotide variant	NM_005861.4(STUB1):c.228C>A (p.His76Gln)	Inborn genetic diseases [RCV005291493]	uncertain significance	16	681220	681220	Human	1	name
617154340	CV4022654	single nucleotide variant	NM_005861.4(STUB1):c.197G>A (p.Arg66Gln)	not provided [RCV005430012]	uncertain significance	16	681189	681189	Human		name
13215871	CV429838	duplication	NM_005861.4(STUB1):c.646dup (p.Ser216fs)	Autosomal recessive spinocerebellar ataxia 16 [RCV000503054]\|Spinocerebellar ataxia 48 [RCV001823003]\|not provided [RCV004721402]	pathogenic\|likely pathogenic	16	682047	682048	Human	2	name
13215712	CV429841	deletion	NM_005861.4(STUB1):c.832del (p.Glu278fs)	not provided [RCV003679006]\|not specified [RCV000502847]	likely pathogenic\|uncertain significance	16	682408	682408	Human		name
21074688	CV797358	single nucleotide variant	NM_005861.4(STUB1):c.101A>G (p.Asn34Ser)	not provided [RCV000995444]	uncertain significance	16	680626	680626	Human		name
21074689	CV797359	deletion	NM_005861.4(STUB1):c.518del (p.Arg173fs)	not provided [RCV000995445]	likely pathogenic	16	681597	681597	Human		name
28880332	CV860278	deletion	NM_005861.4(STUB1):c.824del (p.Leu275fs)	not provided [RCV001090955]	likely pathogenic\|conflicting interpretations of pathogenicity	16	682401	682401	Human		name
38598853	CV964876	duplication	NM_005861.4(STUB1):c.823dup (p.Leu275fs)	Spinocerebellar ataxia 48 [RCV001254134]\|not provided [RCV005235550]	pathogenic\|likely pathogenic	16	682395	682396	Human	1	name
150447473	CV1015240	single nucleotide variant	NM_005861.4(STUB1):c.721C>T (p.Arg241Trp)	Spinocerebellar ataxia 48 [RCV001647174]	likely pathogenic	16	682216	682216	Human	1	name
150334854	CV1166190	single nucleotide variant	NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)	Autosomal recessive spinocerebellar ataxia 16 [RCV003458070]\|not provided [RCV001531218]	uncertain significance	16	681338	681338	Human	1	name
150338528	CV1174349	single nucleotide variant	NM_005861.4(STUB1):c.779A>C (p.His260Pro)	Autosomal recessive spinocerebellar ataxia 16 [RCV001542491]	likely pathogenic	16	682274	682274	Human	1	name
150530198	CV1291527	single nucleotide variant	NM_005861.4(STUB1):c.544C>T (p.Arg182Ter)	not provided [RCV001732794]	likely pathogenic	16	681812	681812	Human		name
150545605	CV1293868	single nucleotide variant	NM_005861.4(STUB1):c.736A>C (p.Thr246Pro)	not provided [RCV001763049]	uncertain significance	16	682231	682231	Human		name
150531553	CV1310972	single nucleotide variant	NM_005861.4(STUB1):c.760C>T (p.Arg254Cys)	not provided [RCV001776706]	uncertain significance	16	682255	682255	Human		name
8657800	CV132641	single nucleotide variant	NM_005861.4(STUB1):c.493C>T (p.Leu165Phe)	Autosomal recessive spinocerebellar ataxia 16 [RCV000114998]	pathogenic	16	681572	681572	Human	1	name
8657801	CV132642	single nucleotide variant	NM_005861.4(STUB1):c.389A>T (p.Asn130Ile)	Autosomal recessive spinocerebellar ataxia 16 [RCV000114999]	pathogenic	16	681468	681468	Human	1	name
8657802	CV132643	single nucleotide variant	NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)	Autosomal recessive spinocerebellar ataxia 16 [RCV000115000]	pathogenic	16	681520	681520	Human	1	name
8657803	CV132644	single nucleotide variant	NM_005861.4(STUB1):c.737C>T (p.Thr246Met)	Autosomal recessive spinocerebellar ataxia 16 [RCV000115001]\|Spinocerebellar ataxia 48 [RCV004786372]\|not provided [RCV000995447]	pathogenic\|uncertain significance	16	682232	682232	Human	2	name
8657804	CV132645	single nucleotide variant	NM_005861.4(STUB1):c.367C>G (p.Leu123Val)	Autosomal recessive spinocerebellar ataxia 16 [RCV000115002]	pathogenic\|likely pathogenic	16	681446	681446	Human	1	name
8657805	CV132646	single nucleotide variant	NM_005861.4(STUB1):c.719T>C (p.Met240Thr)	Autosomal recessive spinocerebellar ataxia 16 [RCV000115003]	pathogenic	16	682214	682214	Human	1	name
152045717	CV1670325	single nucleotide variant	NM_005861.4(STUB1):c.746G>T (p.Gly249Val)	Autosomal recessive spinocerebellar ataxia 16 [RCV004785533]\|Spinocerebellar ataxia 48 [RCV002225177]	uncertain significance	16	682241	682241	Human	2	name
152980050	CV1675842	single nucleotide variant	NM_005861.4(STUB1):c.829C>T (p.Gln277Ter)	not provided [RCV002244433]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	682406	682406	Human		name
153001516	CV1679446	single nucleotide variant	NM_005861.4(STUB1):c.469C>T (p.Gln157Ter)	Autosomal recessive spinocerebellar ataxia 16 [RCV002250835]	likely pathogenic	16	681548	681548	Human	1	name
153001527	CV1679450	single nucleotide variant	NM_005861.4(STUB1):c.518G>T (p.Arg173Leu)	Autosomal recessive spinocerebellar ataxia 16 [RCV002250839]\|not provided [RCV004770427]	uncertain significance	16	681597	681597	Human	1	name
152999210	CV1679654	single nucleotide variant	NM_005861.4(STUB1):c.391T>C (p.Phe131Leu)	Autosomal recessive spinocerebellar ataxia 16 [RCV002251043]	uncertain significance	16	681470	681470	Human	1	name
153303823	CV1690496	single nucleotide variant	NM_005861.4(STUB1):c.853G>A (p.Ala285Thr)	not provided [RCV002269540]	uncertain significance	16	682430	682430	Human		name
153349601	CV1693659	single nucleotide variant	NM_005861.4(STUB1):c.440G>A (p.Trp147Ter)	not provided [RCV002276017]	pathogenic	16	681519	681519	Human		name
155685955	CV1771089	single nucleotide variant	NM_005861.4(STUB1):c.395G>A (p.Gly132Glu)	not provided [RCV002298966]	uncertain significance	16	681474	681474	Human		name
155740021	CV1779621	single nucleotide variant	NM_005861.4(STUB1):c.591G>C (p.Gln197His)	not provided [RCV002302252]	uncertain significance	16	681859	681859	Human		name
155720951	CV1781280	single nucleotide variant	NM_005861.4(STUB1):c.535G>A (p.Glu179Lys)	not provided [RCV002306356]\|not specified [RCV003987995]	uncertain significance	16	681803	681803	Human		name
155800488	CV1863632	single nucleotide variant	NM_005861.4(STUB1):c.848A>T (p.Asn283Ile)	not provided [RCV002474055]	uncertain significance	16	682425	682425	Human		name
156393660	CV1876198	single nucleotide variant	NM_005861.4(STUB1):c.347A>G (p.Asn116Ser)	not provided [RCV003068322]	uncertain significance	16	681339	681339	Human		name
155952731	CV1936161	single nucleotide variant	NM_005861.4(STUB1):c.844C>G (p.Pro282Ala)	not provided [RCV002511817]	uncertain significance	16	682421	682421	Human		name
156436871	CV1936765	single nucleotide variant	NM_005861.4(STUB1):c.854C>T (p.Ala285Val)	not provided [RCV003106395]	uncertain significance	16	682431	682431	Human		name
156410865	CV1965988	single nucleotide variant	NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)	Inborn genetic diseases [RCV003167441]\|Spinocerebellar ataxia 48 [RCV004546737]\|not provided [RCV002587294]	uncertain significance	16	681821	681821	Human	2	name
156325463	CV1980533	single nucleotide variant	NM_005861.4(STUB1):c.615C>G (p.Asp205Glu)	not provided [RCV002630626]	uncertain significance	16	682022	682022	Human		name
156393766	CV2002537	single nucleotide variant	NM_005861.4(STUB1):c.640C>G (p.Leu214Val)	not provided [RCV002681026]	uncertain significance	16	682047	682047	Human		name
156013073	CV2042231	single nucleotide variant	NM_005861.4(STUB1):c.545G>A (p.Arg182Gln)	not provided [RCV002780251]	uncertain significance	16	681813	681813	Human		name
10404643	CV208300	single nucleotide variant	NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	Autosomal recessive spinocerebellar ataxia 16 [RCV000989407]\|Autosomal recessive spinocerebellar ataxia 16 [RCV005396579]\|Inborn genetic diseases [RCV002517140]\|Spinocerebellar ataxia 48 [RCV005409632]\|not provided [RCV002517982]\|not specified [RCV000194931]	conflicting interpretations of pathogenicity\|uncertain significance	16	681512	681512	Human	3	name
156340427	CV2092717	single nucleotide variant	NM_005861.4(STUB1):c.543G>T (p.Gln181His)	not provided [RCV002900446]	uncertain significance	16	681811	681811	Human		name
156002156	CV2119067	single nucleotide variant	NM_005861.4(STUB1):c.577G>A (p.Val193Ile)	not provided [RCV002975235]	uncertain significance	16	681845	681845	Human		name
155911468	CV2152171	single nucleotide variant	NM_005861.4(STUB1):c.539G>A (p.Cys180Tyr)	not provided [RCV002991353]	uncertain significance	16	681807	681807	Human		name
243049602	CV2416993	single nucleotide variant	NM_005861.4(STUB1):c.786G>C (p.Gln262His)	not specified [RCV003151665]	uncertain significance	16	682281	682281	Human		name
329386409	CV2428304	single nucleotide variant	NM_005861.4(STUB1):c.521A>G (p.Glu174Gly)	Inborn genetic diseases [RCV003189642]\|not provided [RCV005061055]	uncertain significance	16	681600	681600	Human	1	name
329372644	CV2428584	single nucleotide variant	NM_005861.4(STUB1):c.575A>G (p.His192Arg)	Inborn genetic diseases [RCV003184881]	likely benign	16	681843	681843	Human	1	name
329954243	CV2669479	single nucleotide variant	NM_005861.4(STUB1):c.636C>G (p.Asp212Glu)	not provided [RCV003231987]	uncertain significance	16	682043	682043	Human		name
329954244	CV2669480	single nucleotide variant	NM_005861.4(STUB1):c.509C>T (p.Ala170Val)	not provided [RCV003231988]	uncertain significance	16	681588	681588	Human		name
401828063	CV2744433	single nucleotide variant	NM_005861.4(STUB1):c.752C>A (p.Thr251Asn)	not provided [RCV003327830]	uncertain significance	16	682247	682247	Human		name
401855673	CV2753091	single nucleotide variant	NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)	Autosomal recessive spinocerebellar ataxia 16 [RCV003338147]	uncertain significance	16	681539	681539	Human	1	name
401904632	CV2810728	single nucleotide variant	NM_005861.4(STUB1):c.568G>A (p.Asp190Asn)	not provided [RCV003395132]\|not specified [RCV003994550]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	681836	681836	Human		name
402483735	CV2857457	single nucleotide variant	NM_005861.4(STUB1):c.587A>G (p.Gln196Arg)	not provided [RCV003544276]	likely benign	16	681855	681855	Human		name
405207163	CV2874109	single nucleotide variant	NM_005861.4(STUB1):c.886G>C (p.Glu296Gln)	not provided [RCV003552089]	uncertain significance	16	682463	682463	Human		name
405249817	CV3000904	single nucleotide variant	NM_005861.4(STUB1):c.382C>T (p.Arg128Trp)	not provided [RCV003721446]	uncertain significance	16	681461	681461	Human		name
402494132	CV3004859	single nucleotide variant	NM_005861.4(STUB1):c.677A>G (p.Asp226Gly)	not provided [RCV003687831]	uncertain significance	16	682172	682172	Human		name
402520376	CV3126847	single nucleotide variant	NM_005861.4(STUB1):c.425C>T (p.Ala142Val)	not provided [RCV003824765]	uncertain significance	16	681504	681504	Human		name
405270477	CV3187741	single nucleotide variant	NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)	Spinocerebellar ataxia 48 [RCV003887824]\|not provided [RCV004721235]	likely pathogenic\|uncertain significance	16	682223	682223	Human	1	name
405780519	CV3331003	single nucleotide variant	NM_005861.4(STUB1):c.346A>C (p.Asn116His)	Inborn genetic diseases [RCV004458581]	uncertain significance	16	681338	681338	Human	1	name
405780528	CV3331005	single nucleotide variant	NM_005861.4(STUB1):c.581G>A (p.Arg194Gln)	Inborn genetic diseases [RCV004458583]	uncertain significance	16	681849	681849	Human	1	name
405780535	CV3331006	single nucleotide variant	NM_005861.4(STUB1):c.626C>T (p.Ala209Val)	Inborn genetic diseases [RCV004458584]	uncertain significance	16	682033	682033	Human	1	name
405780541	CV3331007	single nucleotide variant	NM_005861.4(STUB1):c.658G>A (p.Glu220Lys)	Inborn genetic diseases [RCV004458585]	uncertain significance	16	682065	682065	Human	1	name
405869422	CV3396697	single nucleotide variant	NM_005861.4(STUB1):c.755A>G (p.Tyr252Cys)	Spinocerebellar ataxia 48 [RCV004566560]	uncertain significance	16	682250	682250	Human	1	name
405867628	CV3397947	single nucleotide variant	NM_005861.4(STUB1):c.848A>G (p.Asn283Ser)	Spinocerebellar ataxia 48 [RCV004574947]	uncertain significance	16	682425	682425	Human	1	name
407427492	CV3411915	single nucleotide variant	NM_005861.4(STUB1):c.888G>T (p.Glu296Asp)	not provided [RCV004592086]	uncertain significance	16	682465	682465	Human		name
407475841	CV3415750	single nucleotide variant	NM_005861.4(STUB1):c.788G>A (p.Arg263His)	not provided [RCV004598626]	uncertain significance	16	682365	682365	Human		name
407459326	CV3496778	single nucleotide variant	NM_005861.4(STUB1):c.784C>T (p.Gln262Ter)	Spinocerebellar ataxia 48 [RCV004698460]	likely pathogenic	16	682279	682279	Human	1	name
408366351	CV3500211	single nucleotide variant	NM_005861.4(STUB1):c.772G>T (p.Glu258Ter)	not provided [RCV004722254]	likely pathogenic	16	682267	682267	Human		name
408377588	CV3501608	single nucleotide variant	NM_005861.4(STUB1):c.586C>T (p.Gln196Ter)	STUB1-related disorder [RCV004731687]\|not provided [RCV004727667]	pathogenic	16	681854	681854	Human	1	name , trait , alternate_id
408377982	CV3503193	single nucleotide variant	NM_005861.4(STUB1):c.722G>C (p.Arg241Pro)	not provided [RCV004727764]	uncertain significance	16	682217	682217	Human		name
408390037	CV3524890	single nucleotide variant	NM_005861.4(STUB1):c.565G>A (p.Asp189Asn)	not provided [RCV004769785]	uncertain significance	16	681833	681833	Human		name
596932858	CV3539510	single nucleotide variant	NM_005861.4(STUB1):c.436C>G (p.Arg146Gly)	not provided [RCV004794135]	uncertain significance	16	681515	681515	Human		name
596947225	CV3548775	single nucleotide variant	NM_005861.4(STUB1):c.610C>T (p.His204Tyr)	not provided [RCV004811099]	uncertain significance	16	681878	681878	Human		name
597633556	CV3615142	single nucleotide variant	NM_005861.4(STUB1):c.532G>C (p.Glu178Gln)	Inborn genetic diseases [RCV004969124]	uncertain significance	16	681800	681800	Human	1	name
597667730	CV3732714	single nucleotide variant	NM_005861.4(STUB1):c.835C>T (p.Gln279Ter)	not provided [RCV005004544]	uncertain significance	16	682412	682412	Human		name
597925677	CV3863520	single nucleotide variant	NM_005861.4(STUB1):c.628G>A (p.Asp210Asn)	not provided [RCV005205845]	uncertain significance	16	682035	682035	Human		name
598232886	CV3886489	single nucleotide variant	NM_005861.4(STUB1):c.869T>C (p.Ile290Thr)	Autosomal recessive spinocerebellar ataxia 16 [RCV005255933]	uncertain significance	16	682446	682446	Human	1	name
598122793	CV3889945	single nucleotide variant	NM_005861.4(STUB1):c.728C>G (p.Pro243Arg)	Cerebellar ataxia [RCV005250462]	uncertain significance	16	682223	682223	Human	2	name
598176115	CV3891098	single nucleotide variant	NM_005861.4(STUB1):c.674G>A (p.Arg225Gln)	not provided [RCV005251951]	uncertain significance	16	682169	682169	Human		name
598225010	CV3894190	single nucleotide variant	NM_005861.4(STUB1):c.446G>T (p.Ser149Ile)	not provided [RCV005257433]	uncertain significance	16	681525	681525	Human		name
598228392	CV3894623	single nucleotide variant	NM_005861.4(STUB1):c.364A>T (p.Ser122Cys)	not provided [RCV005257867]	uncertain significance	16	681443	681443	Human		name
598208487	CV3916082	single nucleotide variant	NM_005861.4(STUB1):c.756C>G (p.Tyr252Ter)	Inborn genetic diseases [RCV005291491]	uncertain significance	16	682251	682251	Human	1	name
598178611	CV4008465	single nucleotide variant	NM_005861.4(STUB1):c.852G>C (p.Leu284Phe)	Autosomal recessive spinocerebellar ataxia 16 [RCV005393984]	uncertain significance	16	682429	682429	Human	1	name
616938847	CV4015242	single nucleotide variant	NM_005861.4(STUB1):c.877T>C (p.Phe293Leu)	not provided [RCV005412255]	uncertain significance	16	682454	682454	Human		name
617149959	CV4019084	single nucleotide variant	NM_005861.4(STUB1):c.814C>T (p.Arg272Trp)	not provided [RCV005423492]	uncertain significance	16	682391	682391	Human		name
13214018	CV429840	single nucleotide variant	NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)	Autosomal recessive spinocerebellar ataxia 16 [RCV000500739]	likely pathogenic	16	682216	682216	Human	1	name
13705328	CV536471	single nucleotide variant	NM_005861.4(STUB1):c.832G>T (p.Glu278Ter)	not provided [RCV000657787]	uncertain significance	16	682409	682409	Human		name
14396427	CV612194	duplication	NM_005861.4(STUB1):c.885dup (p.Glu296Ter)	Autosomal recessive spinocerebellar ataxia 16 [RCV000761294]	pathogenic	16	682461	682462	Human	1	name
15182030	CV715021	single nucleotide variant	NM_005861.4(STUB1):c.326G>A (p.Ser109Asn)	STUB1-related disorder [RCV003918563]\|not provided [RCV000974536]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	681318	681318	Human	1	name , trait , alternate_id
21074690	CV797360	single nucleotide variant	NM_005861.4(STUB1):c.673C>T (p.Arg225Ter)	Spinocerebellar ataxia 48 [RCV001644885]\|not provided [RCV000995446]	pathogenic\|likely pathogenic	16	682168	682168	Human	1	name
21074691	CV797361	single nucleotide variant	NM_005861.4(STUB1):c.757G>A (p.Asp253Asn)	not provided [RCV000995448]	uncertain significance	16	682252	682252	Human		name
40814801	CV970143	single nucleotide variant	NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)	Spinocerebellar ataxia 48 [RCV001261528]	likely pathogenic	16	682255	682255	Human	1	name
42723244	CV985417	single nucleotide variant	NM_005861.4(STUB1):c.682C>T (p.Pro228Ser)	Spinocerebellar ataxia 48 [RCV001293254]	pathogenic	16	682177	682177	Human	1	name
150447490	CV1015241	microsatellite	NM_005861.4(STUB1):c.791_792del (p.Val264fs)	Spinocerebellar ataxia 48 [RCV001647177]	pathogenic	16	682365	682366	Human		name
150480171	CV1207964	microsatellite	NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	Autosomal recessive spinocerebellar ataxia 16 [RCV003336422]\|Spinocerebellar ataxia 48 [RCV002221280]\|not provided [RCV001590241]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	681505	681507	Human		name
151352849	CV1326165	microsatellite	NM_005861.4(STUB1):c.860AGG[1] (p.Glu288del)	Autosomal recessive spinocerebellar ataxia 16 [RCV004785325]\|not provided [RCV001815783]	likely pathogenic\|uncertain significance	16	682437	682439	Human		name
405698435	CV3226981	duplication	NM_005861.4(STUB1):c.384_387dup (p.Asn130fs)	not provided [RCV003993375]	pathogenic	16	681461	681462	Human		name
13827372	CV581213	deletion	NM_005861.4(STUB1):c.823_824del (p.Leu275fs)	Spinocerebellar ataxia 48 [RCV000721117]\|not provided [RCV002462119]	pathogenic\|likely pathogenic	16	682400	682401	Human	1	name
28880328	CV860277	deletion	NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)	Autosomal recessive spinocerebellar ataxia 16 [RCV001559327]\|Spinocerebellar ataxia 48 [RCV001293255]\|not provided [RCV001090954]	pathogenic\|likely pathogenic	16	682182	682185	Human	2	name
42723624	CV984515	deletion	NM_005861.4(STUB1):c.617_618del (p.Lys206fs)	not provided [RCV001291599]	pathogenic	16	682024	682025	Human		name
42723246	CV985421	duplication	NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)	Spinocerebellar ataxia 48 [RCV001293256]	pathogenic	16	682394	682395	Human	1	name
405280974	CV3223788	deletion	NM_005861.4(STUB1):c.876_887del (p.Phe293_Glu296del)	Spinocerebellar ataxia 48 [RCV003988172]	uncertain significance	16	682453	682464	Human	1	name
13217025	CV429839	deletion	NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)	Autosomal recessive spinocerebellar ataxia 16 [RCV000504494]	likely pathogenic	16	682189	682194	Human	1	name
598129927	CV3887351	duplication	NM_005861.4(STUB1):c.815_829dup (p.Thr276_Gln277insArgSerProLeuThr)	not provided [RCV005245412]	uncertain significance	16	682385	682386	Human		name
329352037	CV2476612	single nucleotide variant	NM_001005920.4(JMJD8):c.*300G>A	STUB1-related disorder [RCV003906674]\|not provided [RCV003222844]	likely benign	16	682494	682494	Human	1	trait , alternate_id

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