Ubiad1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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126 records found for search term Ubiad1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11596007	CV275890	single nucleotide variant	NM_013319.3(UBIAD1):c.-4T>C	Schnyder crystalline corneal dystrophy [RCV000377189]	uncertain significance	1	11273528	11273528	Human	1	name
11595397	CV275893	single nucleotide variant	NM_013319.3(UBIAD1):c.*18C>T	Schnyder crystalline corneal dystrophy [RCV000370217]	benign\|likely benign	1	11286149	11286149	Human	1	name
11598093	CV275980	single nucleotide variant	NM_013319.3(UBIAD1):c.*94G>A	Schnyder crystalline corneal dystrophy [RCV000401521]	likely benign\|uncertain significance	1	11286225	11286225	Human	1	name
11590550	CV276070	single nucleotide variant	NM_013319.3(UBIAD1):c.-47T>G	Schnyder crystalline corneal dystrophy [RCV000320369]\|not provided [RCV004714645]	benign	1	11273485	11273485	Human	1	name
28880758	CV861935	single nucleotide variant	NM_013319.3(UBIAD1):c.-86G>C	Schnyder crystalline corneal dystrophy [RCV001096649]	uncertain significance	1	11273446	11273446	Human	1	name
28880762	CV861936	single nucleotide variant	NM_013319.3(UBIAD1):c.-78G>C	Schnyder crystalline corneal dystrophy [RCV001096650]	uncertain significance	1	11273454	11273454	Human	1	name
28886830	CV861942	single nucleotide variant	NM_013319.3(UBIAD1):c.*48A>G	Schnyder crystalline corneal dystrophy [RCV001098586]	benign	1	11286179	11286179	Human	1	name
11594506	CV275884	single nucleotide variant	NM_013319.3(UBIAD1):c.-195G>A	Schnyder crystalline corneal dystrophy [RCV000359966]	benign\|likely benign	1	11273337	11273337	Human	1	name
11654943	CV275898	single nucleotide variant	NM_013319.3(UBIAD1):c.*247T>C	Schnyder crystalline corneal dystrophy [RCV000322020]	uncertain significance	1	11286378	11286378	Human	1	name
11596446	CV275899	single nucleotide variant	NM_013319.3(UBIAD1):c.*552G>A	Schnyder crystalline corneal dystrophy [RCV000382607]	benign\|likely benign	1	11286683	11286683	Human	1	name
11587210	CV275901	single nucleotide variant	NM_013319.3(UBIAD1):c.*684C>A	Schnyder crystalline corneal dystrophy [RCV000293583]	benign\|likely benign	1	11286815	11286815	Human	1	name
11593379	CV275905	single nucleotide variant	NM_013319.3(UBIAD1):c.*819G>A	Schnyder crystalline corneal dystrophy [RCV000348372]	benign	1	11286950	11286950	Human	1	name
11587349	CV275907	single nucleotide variant	NM_013319.3(UBIAD1):c.*904T>C	Schnyder crystalline corneal dystrophy [RCV000294531]\|not provided [RCV004714646]	benign	1	11287035	11287035	Human	1	name
11587826	CV275981	single nucleotide variant	NM_013319.3(UBIAD1):c.*148A>G	Schnyder crystalline corneal dystrophy [RCV000297865]\|not provided [RCV004713499]	benign\|likely benign	1	11286279	11286279	Human	1	name
11582773	CV275986	single nucleotide variant	NM_013319.3(UBIAD1):c.*239G>A	Schnyder crystalline corneal dystrophy [RCV000262219]	uncertain significance	1	11286370	11286370	Human	1	name
11594328	CV275987	single nucleotide variant	NM_013319.3(UBIAD1):c.*420C>T	Schnyder crystalline corneal dystrophy [RCV000358216]	benign\|likely benign	1	11286551	11286551	Human	1	name
11590858	CV276001	single nucleotide variant	NM_013319.3(UBIAD1):c.*531C>A	Schnyder crystalline corneal dystrophy [RCV000323298]	likely benign\|uncertain significance	1	11286662	11286662	Human	1	name
11649571	CV276003	single nucleotide variant	NM_013319.3(UBIAD1):c.*612T>C	Schnyder crystalline corneal dystrophy [RCV000288346]	uncertain significance	1	11286743	11286743	Human	1	name
11596501	CV276007	single nucleotide variant	NM_013319.3(UBIAD1):c.*675A>G	Schnyder crystalline corneal dystrophy [RCV000383235]	uncertain significance	1	11286806	11286806	Human	1	name
11662727	CV276078	single nucleotide variant	NM_013319.3(UBIAD1):c.*847A>T	Schnyder crystalline corneal dystrophy [RCV000389017]	uncertain significance	1	11286978	11286978	Human	1	name
11651347	CV276176	single nucleotide variant	NM_013319.3(UBIAD1):c.-311C>T	Schnyder crystalline corneal dystrophy [RCV000298203]	uncertain significance	1	11273221	11273221	Human	1	name
11583602	CV276177	single nucleotide variant	NM_013319.3(UBIAD1):c.-104G>A	Schnyder crystalline corneal dystrophy [RCV000267590]	uncertain significance	1	11273428	11273428	Human	1	name
11655886	CV276197	single nucleotide variant	NM_013319.3(UBIAD1):c.*619A>G	Schnyder crystalline corneal dystrophy [RCV000329309]	uncertain significance	1	11286750	11286750	Human	1	name
11663168	CV276203	single nucleotide variant	NM_013319.3(UBIAD1):c.*997C>T	Schnyder crystalline corneal dystrophy [RCV000393271]	uncertain significance	1	11287128	11287128	Human	1	name
11666173	CV353030	single nucleotide variant	NM_013319.2(UBIAD1):c.-337C>T	Schnyder crystalline corneal dystrophy [RCV000322246]	likely benign\|uncertain significance	1	11273195	11273195	Human	1	name
28880754	CV861934	single nucleotide variant	NM_013319.3(UBIAD1):c.-310C>T	Schnyder crystalline corneal dystrophy [RCV001096648]	uncertain significance	1	11273222	11273222	Human	1	name
28886836	CV861943	single nucleotide variant	NM_013319.3(UBIAD1):c.*170T>G	Schnyder crystalline corneal dystrophy [RCV001098587]	uncertain significance	1	11286301	11286301	Human	1	name
28891891	CV861944	single nucleotide variant	NM_013319.3(UBIAD1):c.*234C>T	Schnyder crystalline corneal dystrophy [RCV001100350]	uncertain significance	1	11286365	11286365	Human	1	name
28891896	CV861945	single nucleotide variant	NM_013319.3(UBIAD1):c.*295G>A	Schnyder crystalline corneal dystrophy [RCV001100352]	uncertain significance	1	11286426	11286426	Human	1	name
28891898	CV861946	single nucleotide variant	NM_013319.3(UBIAD1):c.*467G>A	Schnyder crystalline corneal dystrophy [RCV001100353]	benign	1	11286598	11286598	Human	1	name
28891902	CV861947	single nucleotide variant	NM_013319.3(UBIAD1):c.*519G>A	Schnyder crystalline corneal dystrophy [RCV001100354]	uncertain significance	1	11286650	11286650	Human	1	name
28896777	CV861948	single nucleotide variant	NM_013319.3(UBIAD1):c.*709C>T	Schnyder crystalline corneal dystrophy [RCV001102333]	uncertain significance	1	11286840	11286840	Human	1	name
28881671	CV861949	single nucleotide variant	NM_013319.3(UBIAD1):c.*990T>C	Schnyder crystalline corneal dystrophy [RCV001096934]	uncertain significance	1	11287121	11287121	Human	1	name
11651913	CV275908	single nucleotide variant	NM_013319.3(UBIAD1):c.*1167C>T	Schnyder crystalline corneal dystrophy [RCV000301858]	uncertain significance	1	11287298	11287298	Human	1	name
11652904	CV275911	single nucleotide variant	NM_013319.3(UBIAD1):c.*1426C>T	Schnyder crystalline corneal dystrophy [RCV000307956]	uncertain significance	1	11287557	11287557	Human	1	name
11646755	CV275914	single nucleotide variant	NM_013319.3(UBIAD1):c.*1459T>A	Schnyder crystalline corneal dystrophy [RCV000272715]	uncertain significance	1	11287590	11287590	Human	1	name
11662411	CV275915	single nucleotide variant	NM_013319.3(UBIAD1):c.*1495T>C	Schnyder crystalline corneal dystrophy [RCV000385857]	uncertain significance	1	11287626	11287626	Human	1	name
11595673	CV275917	single nucleotide variant	NM_013319.3(UBIAD1):c.*1564C>T	Schnyder crystalline corneal dystrophy [RCV000373288]	benign\|likely benign	1	11287695	11287695	Human	1	name
11657153	CV275919	deletion	NM_013319.3(UBIAD1):c.*1810del	Schnyder crystalline corneal dystrophy [RCV000339229]\|not provided [RCV004691127]	uncertain significance	1	11287929	11287929	Human	1	name
11657848	CV275922	single nucleotide variant	NM_013319.3(UBIAD1):c.*2187G>A	Schnyder crystalline corneal dystrophy [RCV000344818]	uncertain significance	1	11288318	11288318	Human	1	name
11584922	CV276008	single nucleotide variant	NM_013319.3(UBIAD1):c.*1532C>T	Schnyder crystalline corneal dystrophy [RCV000277543]	benign	1	11287663	11287663	Human	1	name
11647766	CV276012	single nucleotide variant	NM_013319.3(UBIAD1):c.*1586C>T	Schnyder crystalline corneal dystrophy [RCV000278396]	uncertain significance	1	11287717	11287717	Human	1	name
11652277	CV276013	single nucleotide variant	NM_013319.3(UBIAD1):c.*2115C>G	Schnyder crystalline corneal dystrophy [RCV000304147]	uncertain significance	1	11288246	11288246	Human	1	name
11591796	CV276085	single nucleotide variant	NM_013319.3(UBIAD1):c.*1535A>T	Schnyder crystalline corneal dystrophy [RCV000332629]	uncertain significance	1	11287666	11287666	Human	1	name
11592421	CV276089	single nucleotide variant	NM_013319.3(UBIAD1):c.*1671G>A	Schnyder crystalline corneal dystrophy [RCV000338091]	benign\|likely benign	1	11287802	11287802	Human	1	name
11656858	CV276209	single nucleotide variant	NM_013319.3(UBIAD1):c.*1010C>T	Schnyder crystalline corneal dystrophy [RCV000337070]	uncertain significance	1	11287141	11287141	Human	1	name
11597820	CV276214	single nucleotide variant	NM_013319.3(UBIAD1):c.*1060G>A	Schnyder crystalline corneal dystrophy [RCV000398620]\|not provided [RCV004713500]	benign\|likely benign	1	11287191	11287191	Human	1	name
11594611	CV276215	single nucleotide variant	NM_013319.3(UBIAD1):c.*1265T>A	Schnyder crystalline corneal dystrophy [RCV000361232]	uncertain significance	1	11287396	11287396	Human	1	name
11583472	CV276226	single nucleotide variant	NM_013319.3(UBIAD1):c.*1304C>T	Schnyder crystalline corneal dystrophy [RCV000266840]\|not provided [RCV004713501]	benign	1	11287435	11287435	Human	1	name
11659918	CV276227	single nucleotide variant	NM_013319.3(UBIAD1):c.*1427T>C	Schnyder crystalline corneal dystrophy [RCV000362554]	uncertain significance	1	11287558	11287558	Human	1	name
11591701	CV276228	single nucleotide variant	NM_013319.3(UBIAD1):c.*1494A>G	Schnyder crystalline corneal dystrophy [RCV000331382]	uncertain significance	1	11287625	11287625	Human	1	name
11661173	CV276229	single nucleotide variant	NM_013319.3(UBIAD1):c.*1719A>G	Schnyder crystalline corneal dystrophy [RCV000374053]	uncertain significance	1	11287850	11287850	Human	1	name
11648835	CV276273	single nucleotide variant	NM_013319.3(UBIAD1):c.*1779C>T	Schnyder crystalline corneal dystrophy [RCV000284133]	uncertain significance	1	11287910	11287910	Human	1	name
28881675	CV861950	single nucleotide variant	NM_013319.3(UBIAD1):c.*1189A>G	Schnyder crystalline corneal dystrophy [RCV001096935]	uncertain significance	1	11287320	11287320	Human	1	name
28887137	CV861951	single nucleotide variant	NM_013319.3(UBIAD1):c.*1228A>G	Schnyder crystalline corneal dystrophy [RCV001098681]	uncertain significance	1	11287359	11287359	Human	1	name
28892218	CV861952	single nucleotide variant	NM_013319.3(UBIAD1):c.*1506T>C	Schnyder crystalline corneal dystrophy [RCV001100483]	uncertain significance	1	11287637	11287637	Human	1	name
28892222	CV861953	single nucleotide variant	NM_013319.3(UBIAD1):c.*1565G>A	Schnyder crystalline corneal dystrophy [RCV001100484]	uncertain significance	1	11287696	11287696	Human	1	name
28892223	CV861954	single nucleotide variant	NM_013319.3(UBIAD1):c.*1570G>A	Schnyder crystalline corneal dystrophy [RCV001100485]	uncertain significance	1	11287701	11287701	Human	1	name
28892227	CV861955	single nucleotide variant	NM_013319.3(UBIAD1):c.*1580C>T	Schnyder crystalline corneal dystrophy [RCV001100486]	uncertain significance	1	11287711	11287711	Human	1	name
28897029	CV861956	single nucleotide variant	NM_013319.3(UBIAD1):c.*1811G>C	Schnyder crystalline corneal dystrophy [RCV001102441]	uncertain significance	1	11287942	11287942	Human	1	name
28897032	CV861957	single nucleotide variant	NM_013319.3(UBIAD1):c.*1876G>A	Schnyder crystalline corneal dystrophy [RCV001102442]	uncertain significance	1	11288007	11288007	Human	1	name
28897035	CV861958	single nucleotide variant	NM_013319.3(UBIAD1):c.*2091G>A	Schnyder crystalline corneal dystrophy [RCV001102443]	uncertain significance	1	11288222	11288222	Human	1	name
28881976	CV861959	single nucleotide variant	NM_013319.3(UBIAD1):c.*2201C>A	Schnyder crystalline corneal dystrophy [RCV001097034]	uncertain significance	1	11288332	11288332	Human	1	name
28881980	CV861960	single nucleotide variant	NM_013319.3(UBIAD1):c.*2213C>T	Schnyder crystalline corneal dystrophy [RCV001097035]	uncertain significance	1	11288344	11288344	Human	1	name
11659387	CV275896	deletion	NM_013319.3(UBIAD1):c.221_223del	Schnyder crystalline corneal dystrophy [RCV000357457]	uncertain significance	1	11286350	11286352	Human	1	name
11583657	CV276000	deletion	NM_013319.3(UBIAD1):c.465_466del	Schnyder crystalline corneal dystrophy [RCV000268207]	uncertain significance	1	11286596	11286597	Human	1	name
11597572	CV275920	deletion	NM_013319.3(UBIAD1):c.1817_1820del	Schnyder crystalline corneal dystrophy [RCV000395834]	benign	1	11287945	11287948	Human	1	name
11666754	CV353031	single nucleotide variant	NM_001330349.2(UBIAD1):c.618+2704C>T	Schnyder crystalline corneal dystrophy [RCV000376638]	likely benign	1	11288436	11288436	Human	1	name
11592080	CV276079	insertion	NM_013319.3(UBIAD1):c.969_970insTTTG	Schnyder crystalline corneal dystrophy [RCV000335467]	benign	1	11287098	11287099	Human	1	name
156366605	CV2130691	single nucleotide variant	NM_013319.3(UBIAD1):c.351T>C (p.Asp117=)	not provided [RCV002967352]	benign	1	11273882	11273882	Human		name
155920408	CV2215259	single nucleotide variant	NM_013319.3(UBIAD1):c.41T>G (p.Leu14Arg)	not specified [RCV004086961]	uncertain significance	1	11273572	11273572	Human		name
11578823	CV275891	single nucleotide variant	NM_013319.3(UBIAD1):c.370C>A (p.Arg124=)	Schnyder crystalline corneal dystrophy [RCV000289699]	benign\|uncertain significance	1	11273901	11273901	Human	1	name
11578596	CV275976	single nucleotide variant	NM_013319.3(UBIAD1):c.867C>T (p.Thr289=)	Schnyder crystalline corneal dystrophy [RCV000285093]\|not provided [RCV003688835]	benign\|likely benign	1	11285981	11285981	Human	1	name
11577959	CV276071	single nucleotide variant	NM_013319.3(UBIAD1):c.60A>C (p.Lys20Asn)	Schnyder crystalline corneal dystrophy [RCV000271094]	likely benign\|uncertain significance	1	11273591	11273591	Human	1	name
11580997	CV276073	single nucleotide variant	NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=)	Schnyder crystalline corneal dystrophy [RCV000351714]\|not provided [RCV004713496]	benign\|likely benign	1	11273948	11273948	Human	1	name
11581662	CV276075	single nucleotide variant	NM_013319.3(UBIAD1):c.837C>T (p.Cys279=)	Schnyder crystalline corneal dystrophy [RCV000379604]\|not provided [RCV005090405]	benign\|likely benign	1	11285951	11285951	Human	1	name
402468373	CV2921122	single nucleotide variant	NM_013319.3(UBIAD1):c.675C>G (p.Thr225=)	not provided [RCV003569805]	benign	1	11285789	11285789	Human		name
402485147	CV2931561	single nucleotide variant	NM_013319.3(UBIAD1):c.765G>A (p.Thr255=)	not provided [RCV003572456]	likely benign	1	11285879	11285879	Human		name
405799902	CV3341435	single nucleotide variant	NM_013319.3(UBIAD1):c.94C>T (p.Pro32Ser)	not specified [RCV004476988]	uncertain significance	1	11273625	11273625	Human		name
407522851	CV3491103	single nucleotide variant	NM_013319.3(UBIAD1):c.73G>A (p.Asp25Asn)	not specified [RCV004677840]	uncertain significance	1	11273604	11273604	Human		name
597682438	CV3625949	single nucleotide variant	NM_013319.3(UBIAD1):c.44C>T (p.Ser15Leu)	not specified [RCV004883761]	uncertain significance	1	11273575	11273575	Human		name
598129898	CV3887322	single nucleotide variant	NM_013319.3(UBIAD1):c.59A>G (p.Lys20Arg)	not provided [RCV005245382]	uncertain significance	1	11273590	11273590	Human		name
156332774	CV2214500	single nucleotide variant	NM_013319.3(UBIAD1):c.277G>A (p.Ala93Thr)	not specified [RCV004088554]	uncertain significance	1	11273808	11273808	Human		name
11580312	CV276072	single nucleotide variant	NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe)	Schnyder crystalline corneal dystrophy [RCV000329450]\|not provided [RCV002519369]	benign\|likely benign	1	11273755	11273755	Human	1	name
405799898	CV3341433	single nucleotide variant	NM_013319.3(UBIAD1):c.112C>A (p.Pro38Thr)	not specified [RCV004476986]	uncertain significance	1	11273643	11273643	Human		name
407522854	CV3491104	single nucleotide variant	NM_013319.3(UBIAD1):c.271G>C (p.Val91Leu)	not specified [RCV004677841]	uncertain significance	1	11273802	11273802	Human		name
598189269	CV3928896	single nucleotide variant	NM_013319.3(UBIAD1):c.262G>A (p.Ala88Thr)	not specified [RCV005288050]	uncertain significance	1	11273793	11273793	Human		name
598189284	CV3928898	single nucleotide variant	NM_013319.3(UBIAD1):c.112C>T (p.Pro38Ser)	not specified [RCV005288052]	uncertain significance	1	11273643	11273643	Human		name
598265269	CV3928899	single nucleotide variant	NM_013319.3(UBIAD1):c.132G>C (p.Gln44His)	not specified [RCV005301693]	uncertain significance	1	11273663	11273663	Human		name
28886189	CV861937	single nucleotide variant	NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg)	Schnyder crystalline corneal dystrophy [RCV001098378]\|not specified [RCV004032039]	likely benign\|uncertain significance	1	11273647	11273647	Human	1	name
28886195	CV861938	single nucleotide variant	NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu)	Schnyder crystalline corneal dystrophy [RCV001098379]\|not specified [RCV004877698]	uncertain significance	1	11273722	11273722	Human	1	name
28886198	CV861939	single nucleotide variant	NM_013319.3(UBIAD1):c.230G>A (p.Gly77Asp)	Schnyder crystalline corneal dystrophy [RCV001098380]	likely benign	1	11273761	11273761	Human	1	name
126912615	CV1036926	single nucleotide variant	NM_013319.3(UBIAD1):c.460C>T (p.Pro154Ser)	not provided [RCV001356664]	uncertain significance	1	11273991	11273991	Human		name
126911679	CV1036927	single nucleotide variant	NM_013319.3(UBIAD1):c.679G>T (p.Ala227Ser)	not provided [RCV001355633]	uncertain significance	1	11285793	11285793	Human		name
150520602	CV1290494	single nucleotide variant	NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)	Schnyder crystalline corneal dystrophy [RCV001731228]	likely pathogenic	1	11285832	11285832	Human	1	name
8595180	CV15895	single nucleotide variant	NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)	Schnyder crystalline corneal dystrophy [RCV000000904]	pathogenic	1	11273836	11273836	Human	1	name
8595181	CV15896	single nucleotide variant	NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg)	Schnyder crystalline corneal dystrophy [RCV000000905]	pathogenic	1	11274060	11274060	Human	1	name
8595182	CV15897	single nucleotide variant	NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly)	Schnyder crystalline corneal dystrophy [RCV000000906]	pathogenic	1	11273886	11273886	Human	1	name
8595183	CV15898	single nucleotide variant	NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)	Schnyder crystalline corneal dystrophy [RCV000000907]	pathogenic	1	11274055	11274055	Human	1	name
8595184	CV15899	single nucleotide variant	NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser)	Schnyder crystalline corneal dystrophy [RCV000000908]	pathogenic	1	11285809	11285809	Human	1	name
8595185	CV15900	single nucleotide variant	NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly)	Schnyder crystalline corneal dystrophy [RCV000000909]	pathogenic	1	11273866	11273866	Human	1	name
8595186	CV15901	single nucleotide variant	NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro)	Schnyder crystalline corneal dystrophy [RCV000000910]	pathogenic	1	11274042	11274042	Human	1	name
8595187	CV15902	single nucleotide variant	NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg)	Schnyder crystalline corneal dystrophy [RCV000000911]	pathogenic	1	11285670	11285670	Human	1	name
8595188	CV15903	single nucleotide variant	NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu)	Schnyder crystalline corneal dystrophy [RCV000000912]	pathogenic	1	11285822	11285822	Human	1	name
156237778	CV2224237	single nucleotide variant	NM_013319.3(UBIAD1):c.770C>T (p.Ser257Phe)	not specified [RCV004096069]	uncertain significance	1	11285884	11285884	Human		name
156284684	CV2259364	single nucleotide variant	NM_013319.3(UBIAD1):c.682A>G (p.Ile228Val)	not specified [RCV004122602]	uncertain significance	1	11285796	11285796	Human		name
156174331	CV2326906	single nucleotide variant	NM_013319.3(UBIAD1):c.724G>C (p.Glu242Gln)	not specified [RCV004176723]	uncertain significance	1	11285838	11285838	Human		name
11581466	CV275892	single nucleotide variant	NM_013319.3(UBIAD1):c.600G>A (p.Met200Ile)	Schnyder crystalline corneal dystrophy [RCV000370908]	likely benign\|uncertain significance	1	11285714	11285714	Human	1	name
11581723	CV275968	single nucleotide variant	NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val)	Schnyder crystalline corneal dystrophy [RCV000381691]\|not provided [RCV002522049]	benign\|likely benign	1	11273829	11273829	Human	1	name
11650478	CV275975	single nucleotide variant	NM_013319.3(UBIAD1):c.494T>G (p.Phe165Cys)	Schnyder crystalline corneal dystrophy [RCV000293265]	uncertain significance	1	11274025	11274025	Human	1	name
11581912	CV276178	single nucleotide variant	NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys)	Schnyder crystalline corneal dystrophy [RCV000389691]\|UBIAD1-related disorder [RCV003910054]\|not provided [RCV003565398]	benign\|likely benign	1	11273983	11273983	Human	1	name , trait , alternate_id
11578096	CV276192	single nucleotide variant	NM_013319.3(UBIAD1):c.740C>T (p.Thr247Met)	Schnyder crystalline corneal dystrophy [RCV000274086]	likely benign\|uncertain significance	1	11285854	11285854	Human	1	name
11580383	CV276196	single nucleotide variant	NM_013319.3(UBIAD1):c.751C>A (p.Leu251Ile)	Schnyder crystalline corneal dystrophy [RCV000331536]\|not specified [RCV004877660]	uncertain significance	1	11285865	11285865	Human	1	name
401854442	CV2770528	single nucleotide variant	NM_013319.3(UBIAD1):c.721C>T (p.Arg241Trp)	not specified [RCV004347810]	uncertain significance	1	11285835	11285835	Human		name
401921325	CV2804542	single nucleotide variant	NM_013319.3(UBIAD1):c.991C>T (p.Pro331Ser)	UBIAD1-related disorder [RCV003402916]	uncertain significance	1	11286105	11286105	Human		name , trait , alternate_id
405799900	CV3341434	single nucleotide variant	NM_013319.3(UBIAD1):c.568A>G (p.Ile190Val)	not specified [RCV004476987]	uncertain significance	1	11285682	11285682	Human		name
407522848	CV3491102	single nucleotide variant	NM_013319.3(UBIAD1):c.578C>G (p.Thr193Ser)	not specified [RCV004677839]	uncertain significance	1	11285692	11285692	Human		name
596926217	CV3536164	single nucleotide variant	NM_013319.3(UBIAD1):c.362T>G (p.Leu121Arg)	Schnyder crystalline corneal dystrophy [RCV004788594]	likely pathogenic	1	11273893	11273893	Human	1	name
597682448	CV3625951	single nucleotide variant	NM_013319.3(UBIAD1):c.922C>A (p.Leu308Met)	not specified [RCV004883763]	uncertain significance	1	11286036	11286036	Human		name
597682458	CV3625952	single nucleotide variant	NM_013319.3(UBIAD1):c.338A>G (p.His113Arg)	not specified [RCV004883764]	uncertain significance	1	11273869	11273869	Human		name
597701743	CV3711002	single nucleotide variant	NM_013319.3(UBIAD1):c.577A>G (p.Thr193Ala)	Schnyder crystalline corneal dystrophy [RCV005008840]	uncertain significance	1	11285691	11285691	Human	1	name
598189277	CV3928897	single nucleotide variant	NM_013319.3(UBIAD1):c.764C>T (p.Thr255Met)	not specified [RCV005288051]	uncertain significance	1	11285878	11285878	Human		name
8604620	CV49835	single nucleotide variant	NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)	Schnyder crystalline corneal dystrophy [RCV000034310]\|not provided [RCV004696646]	pathogenic\|likely pathogenic	1	11285644	11285644	Human	1	name
28896516	CV861940	single nucleotide variant	NM_013319.3(UBIAD1):c.711G>T (p.Met237Ile)	Schnyder crystalline corneal dystrophy [RCV001102234]	uncertain significance	1	11285825	11285825	Human	1	name
28896520	CV861941	single nucleotide variant	NM_013319.3(UBIAD1):c.739A>G (p.Thr247Ala)	Schnyder crystalline corneal dystrophy [RCV001102235]	uncertain significance	1	11285853	11285853	Human	1	name
405272023	CV3197511	single nucleotide variant	NC_000001.11:g.11294897G>A	UBIAD1-related disorder [RCV003901480]	likely benign	1	11294897	11294897	Human		trait , alternate_id

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