Six6 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

139 records found for search term Six6

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28911935	CV871972	single nucleotide variant	NM_007374.3(SIX6):c.-64C>T	Anophthalmia-microphthalmia syndrome [RCV001111372]\|not provided [RCV001560721]	likely benign	14	60509335	60509335	Human	1	name
11600516	CV320746	single nucleotide variant	NM_007374.3(SIX6):c.-149C>T	Anophthalmia-microphthalmia syndrome [RCV000274371]	likely benign\|uncertain significance	14	60509250	60509250	Human	1	name
11623155	CV329589	single nucleotide variant	NM_007374.3(SIX6):c.-161T>C	Anophthalmia-microphthalmia syndrome [RCV000369028]\|not provided [RCV001642976]	benign	14	60509238	60509238	Human	1	name
11619236	CV329623	single nucleotide variant	NM_007374.3(SIX6):c.*101C>G	Anophthalmia-microphthalmia syndrome [RCV000322860]\|not provided [RCV001594943]	benign	14	60511353	60511353	Human	1	name
11647786	CV329626	single nucleotide variant	NM_007374.3(SIX6):c.*232C>T	Anophthalmia-microphthalmia syndrome [RCV000278206]	pathogenic\|uncertain significance	14	60511484	60511484	Human	1	name
11623454	CV336214	single nucleotide variant	NM_007374.3(SIX6):c.*210G>T	Anophthalmia-microphthalmia syndrome [RCV000372803]	uncertain significance	14	60511462	60511462	Human	1	name
11657022	CV336218	single nucleotide variant	NM_007374.3(SIX6):c.*298A>G	Anophthalmia-microphthalmia syndrome [RCV000337980]	uncertain significance	14	60511550	60511550	Human	1	name
11617047	CV338110	single nucleotide variant	NM_007374.3(SIX6):c.-174C>G	Anophthalmia-microphthalmia syndrome [RCV000300322]	uncertain significance	14	60509225	60509225	Human	1	name
11654193	CV338117	single nucleotide variant	NM_007374.3(SIX6):c.-114G>A	Anophthalmia-microphthalmia syndrome [RCV000315480]	uncertain significance	14	60509285	60509285	Human	1	name
11663541	CV338126	single nucleotide variant	NM_007374.3(SIX6):c.*409T>G	Anophthalmia-microphthalmia syndrome [RCV000396775]	uncertain significance	14	60511661	60511661	Human	1	name
28911934	CV871971	single nucleotide variant	NM_007374.3(SIX6):c.-147T>C	Anophthalmia-microphthalmia syndrome [RCV001111371]\|not provided [RCV001551014]	likely benign	14	60509252	60509252	Human	1	name
28910386	CV871979	single nucleotide variant	NM_007374.3(SIX6):c.*121A>T	Anophthalmia-microphthalmia syndrome [RCV001109132]	uncertain significance	14	60511373	60511373	Human	1	name
28910387	CV871980	single nucleotide variant	NM_007374.3(SIX6):c.*124C>A	Anophthalmia-microphthalmia syndrome [RCV001109133]	uncertain significance	14	60511376	60511376	Human	1	name
28910388	CV871981	single nucleotide variant	NM_007374.3(SIX6):c.*432G>A	Anophthalmia-microphthalmia syndrome [RCV001109134]	uncertain significance	14	60511684	60511684	Human	1	name
28912002	CV871982	single nucleotide variant	NM_007374.3(SIX6):c.*462A>G	Anophthalmia-microphthalmia syndrome [RCV001111472]	uncertain significance	14	60511714	60511714	Human	1	name
405234074	CV2981765	single nucleotide variant	NM_007374.3(SIX6):c.572+8C>T	not provided [RCV003711890]	likely benign	14	60509978	60509978	Human		name
405176868	CV3049386	single nucleotide variant	NM_007374.3(SIX6):c.573-5C>G	not provided [RCV003728362]	likely benign	14	60511079	60511079	Human		name
11624364	CV336213	single nucleotide variant	NM_007374.3(SIX6):c.573-6C>G	Anophthalmia-microphthalmia syndrome [RCV000384781]\|not provided [RCV002520904]	likely benign\|uncertain significance	14	60511078	60511078	Human	1	name
152160620	CV1601697	single nucleotide variant	NM_007374.3(SIX6):c.573-10T>C	not provided [RCV002180866]	likely benign	14	60511074	60511074	Human		name
156314625	CV1907132	single nucleotide variant	NM_007374.3(SIX6):c.572+13A>G	not provided [RCV003088647]	likely benign	14	60509983	60509983	Human		name
405069438	CV3031075	single nucleotide variant	NM_007374.3(SIX6):c.572+10T>C	not provided [RCV003698229]	likely benign	14	60509980	60509980	Human		name
11605943	CV320757	single nucleotide variant	NM_007374.3(SIX6):c.572+15G>A	Anophthalmia-microphthalmia syndrome [RCV000325605]	uncertain significance	14	60509985	60509985	Human	1	name
150509953	CV1286307	single nucleotide variant	NM_007374.3(SIX6):c.573-184G>A	not provided [RCV001720835]	benign	14	60510900	60510900	Human		name
156308623	CV2150015	single nucleotide variant	NM_007374.3(SIX6):c.12G>C (p.Leu4=)	not provided [RCV003028451]	likely benign	14	60509410	60509410	Human		name
14976030	CV625774	deletion	NM_007374.3(SIX6):c.-227_572+235del	Developmental cataract [RCV000845584]	pathogenic	14	60509168	60510201	Human	5	name
15179333	CV702926	single nucleotide variant	NM_007374.3(SIX6):c.18C>T (p.Ile6=)	not provided [RCV000951493]	benign	14	60509416	60509416	Human		name
28911936	CV871973	single nucleotide variant	NM_007374.3(SIX6):c.18C>A (p.Ile6=)	Anophthalmia-microphthalmia syndrome [RCV001111373]\|not provided [RCV002555079]	likely benign\|uncertain significance	14	60509416	60509416	Human	1	name
28911937	CV871974	single nucleotide variant	NM_007374.3(SIX6):c.21G>A (p.Leu7=)	Anophthalmia-microphthalmia syndrome [RCV001111374]\|not provided [RCV001615116]	benign\|likely benign	14	60509419	60509419	Human	1	name
405138743	CV3029590	single nucleotide variant	NM_007374.3(SIX6):c.75C>A (p.Gly25=)	not provided [RCV003702329]	likely benign	14	60509473	60509473	Human		name
11609565	CV320750	single nucleotide variant	NM_007374.3(SIX6):c.96C>T (p.Arg32=)	Anophthalmia-microphthalmia syndrome [RCV000369772]	uncertain significance	14	60509494	60509494	Human	1	name
597843285	CV3752486	single nucleotide variant	NM_007374.3(SIX6):c.78T>C (p.Asp26=)	not provided [RCV005086892]	likely benign	14	60509476	60509476	Human		name
151735845	CV1508909	single nucleotide variant	NM_007374.3(SIX6):c.10C>A (p.Leu4Met)	not provided [RCV002021803]	uncertain significance	14	60509408	60509408	Human		name
152161574	CV1534791	single nucleotide variant	NM_007374.3(SIX6):c.123T>C (p.Pro41=)	not provided [RCV002141010]	likely benign	14	60509521	60509521	Human		name
152067530	CV1600202	single nucleotide variant	NM_007374.3(SIX6):c.162A>C (p.Leu54=)	not provided [RCV002110991]	likely benign	14	60509560	60509560	Human		name
152167488	CV1600733	single nucleotide variant	NM_007374.3(SIX6):c.216T>C (p.His72=)	not provided [RCV002160882]	likely benign	14	60509614	60509614	Human		name
152168917	CV1613991	single nucleotide variant	NM_007374.3(SIX6):c.243G>A (p.Lys81=)	not provided [RCV002161275]	likely benign	14	60509641	60509641	Human		name
152145155	CV1661487	single nucleotide variant	NM_007374.3(SIX6):c.171A>G (p.Arg57=)	not provided [RCV002157318]	likely benign	14	60509569	60509569	Human		name
156324101	CV1972558	single nucleotide variant	NM_007374.3(SIX6):c.267G>A (p.Ala89=)	not provided [RCV002600420]	likely benign	14	60509665	60509665	Human		name
405047940	CV2886653	single nucleotide variant	NM_007374.3(SIX6):c.114C>T (p.Pro38=)	not provided [RCV003579584]	likely benign	14	60509512	60509512	Human		name
405128546	CV2893346	single nucleotide variant	NM_007374.3(SIX6):c.279A>G (p.Glu93=)	not provided [RCV003559813]	likely benign	14	60509677	60509677	Human		name
597913336	CV3740479	single nucleotide variant	NM_007374.3(SIX6):c.259C>T (p.Leu87=)	not provided [RCV005073816]	likely benign	14	60509657	60509657	Human		name
597905649	CV3781000	single nucleotide variant	NM_007374.3(SIX6):c.111G>T (p.Leu37=)	not provided [RCV005127899]	likely benign	14	60509509	60509509	Human		name
597975737	CV3799328	single nucleotide variant	NM_007374.3(SIX6):c.183C>G (p.Ala61=)	not provided [RCV005144724]	likely benign	14	60509581	60509581	Human		name
15175282	CV702927	single nucleotide variant	NM_007374.3(SIX6):c.174C>T (p.Ala58=)	not provided [RCV000950540]	likely benign	14	60509572	60509572	Human		name
15169012	CV725724	single nucleotide variant	NM_007374.3(SIX6):c.294G>A (p.Glu98=)	not provided [RCV000883181]	likely benign	14	60509692	60509692	Human		name
156188109	CV1882625	single nucleotide variant	NM_007374.3(SIX6):c.369C>T (p.Arg123=)	not provided [RCV003083782]	likely benign	14	60509767	60509767	Human		name
156400683	CV1888987	single nucleotide variant	NM_007374.3(SIX6):c.435G>A (p.Glu145=)	not provided [RCV003069102]	likely benign	14	60509833	60509833	Human		name
155958957	CV1900077	single nucleotide variant	NM_007374.3(SIX6):c.91G>C (p.Gly31Arg)	not provided [RCV003095741]	uncertain significance	14	60509489	60509489	Human		name
156082324	CV1909021	single nucleotide variant	NM_007374.3(SIX6):c.65A>T (p.Glu22Val)	not provided [RCV002591621]	uncertain significance	14	60509463	60509463	Human		name
156276972	CV1911926	single nucleotide variant	NM_007374.3(SIX6):c.591G>C (p.Leu197=)	not provided [RCV002628300]	likely benign	14	60511102	60511102	Human		name
156276292	CV1971162	single nucleotide variant	NM_007374.3(SIX6):c.621G>A (p.Ala207=)	not provided [RCV002598252]	likely benign	14	60511132	60511132	Human		name
156216288	CV2015258	single nucleotide variant	NM_007374.3(SIX6):c.624G>A (p.Glu208=)	not provided [RCV002700827]	likely benign	14	60511135	60511135	Human		name
155926890	CV2041436	single nucleotide variant	NM_007374.3(SIX6):c.76G>A (p.Asp26Asn)	not provided [RCV002750971]	uncertain significance	14	60509474	60509474	Human		name
156125747	CV2046745	single nucleotide variant	NM_007374.3(SIX6):c.654C>T (p.Val218=)	not provided [RCV002800411]	likely benign	14	60511165	60511165	Human		name
156057003	CV2133897	single nucleotide variant	NM_007374.3(SIX6):c.636G>A (p.Thr212=)	not provided [RCV003000067]	likely benign	14	60511147	60511147	Human		name
156189096	CV2160730	single nucleotide variant	NM_007374.3(SIX6):c.627C>T (p.Gly209=)	not provided [RCV003024072]	likely benign	14	60511138	60511138	Human		name
401830509	CV2748211	single nucleotide variant	NM_007374.3(SIX6):c.34C>A (p.Gln12Lys)	not provided [RCV003329818]	uncertain significance	14	60509432	60509432	Human		name
402490430	CV2948999	single nucleotide variant	NM_007374.3(SIX6):c.333C>T (p.Asp111=)	not provided [RCV003660495]	likely benign	14	60509731	60509731	Human		name
405136570	CV2958184	single nucleotide variant	NM_007374.3(SIX6):c.327T>C (p.Pro109=)	not provided [RCV003672866]	likely benign	14	60509725	60509725	Human		name
405221496	CV2966214	single nucleotide variant	NM_007374.3(SIX6):c.427C>T (p.Leu143=)	not provided [RCV003680758]	likely benign	14	60509825	60509825	Human		name
405205569	CV3165695	single nucleotide variant	NM_007374.3(SIX6):c.432C>T (p.Arg144=)	not provided [RCV003861361]	likely benign	14	60509830	60509830	Human		name
405252262	CV3177872	single nucleotide variant	NM_007374.3(SIX6):c.603C>T (p.Ser201=)	not provided [RCV003870652]	likely benign	14	60511114	60511114	Human		name
11610095	CV320760	single nucleotide variant	NM_007374.3(SIX6):c.651C>T (p.Gly217=)	Anophthalmia-microphthalmia syndrome [RCV000376835]\|not provided [RCV002056403]	benign\|uncertain significance	14	60511162	60511162	Human	1	name
11601983	CV320761	single nucleotide variant	NM_007374.3(SIX6):c.726C>T (p.Ser242=)	Anophthalmia-microphthalmia syndrome [RCV000287167]	uncertain significance	14	60511237	60511237	Human	1	name
11619177	CV329598	single nucleotide variant	NM_007374.3(SIX6):c.636G>C (p.Thr212=)	Anophthalmia-microphthalmia syndrome [RCV000322183]\|not provided [RCV000964603]	likely benign\|uncertain significance	14	60511147	60511147	Human	1	name
597869793	CV3749829	single nucleotide variant	NM_007374.3(SIX6):c.534C>T (p.Asn178=)	not provided [RCV005068510]	likely benign	14	60509932	60509932	Human		name
597909302	CV3781989	single nucleotide variant	NM_007374.3(SIX6):c.522C>T (p.Asn174=)	not provided [RCV005128481]	likely benign	14	60509920	60509920	Human		name
597926344	CV3783295	single nucleotide variant	NM_007374.3(SIX6):c.516G>T (p.Val172=)	not provided [RCV005115981]	likely benign	14	60509914	60509914	Human		name
15188392	CV702928	single nucleotide variant	NM_007374.3(SIX6):c.705C>T (p.Ile235=)	not provided [RCV000953866]	likely benign	14	60511216	60511216	Human		name
15186027	CV769836	single nucleotide variant	NM_007374.3(SIX6):c.507T>C (p.Pro169=)	not provided [RCV000931231]	likely benign	14	60509905	60509905	Human		name
28872935	CV871977	single nucleotide variant	NM_007374.3(SIX6):c.714G>T (p.Thr238=)	Anophthalmia-microphthalmia syndrome [RCV001114765]	uncertain significance	14	60511225	60511225	Human	1	name
152999733	CV1683300	deletion	NM_007374.3(SIX6):c.380del (p.Asp127fs)	See cases [RCV002252484]	likely pathogenic	14	60509778	60509778	Human		name
156002845	CV1869587	single nucleotide variant	NM_007374.3(SIX6):c.135G>C (p.Glu45Asp)	not provided [RCV003076677]\|not specified [RCV004070298]	uncertain significance	14	60509533	60509533	Human		name
10042955	CV187260	single nucleotide variant	NM_007374.3(SIX6):c.110T>C (p.Leu37Pro)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000169774]	pathogenic\|not provided	14	60509508	60509508	Human	1	name
155994435	CV1879343	single nucleotide variant	NM_007374.3(SIX6):c.185T>G (p.Phe62Cys)	not provided [RCV003076272]	uncertain significance	14	60509583	60509583	Human		name
156391985	CV1986355	single nucleotide variant	NM_007374.3(SIX6):c.265G>A (p.Ala89Thr)	not provided [RCV002604754]\|not specified [RCV004065803]	uncertain significance	14	60509663	60509663	Human		name
156164359	CV2045058	deletion	NM_007374.3(SIX6):c.613del (p.Leu205fs)	not provided [RCV002741660]	uncertain significance	14	60511124	60511124	Human		name
156091042	CV2093044	single nucleotide variant	NM_007374.3(SIX6):c.216T>A (p.His72Gln)	not provided [RCV002926681]	uncertain significance	14	60509614	60509614	Human		name
155985027	CV2136835	single nucleotide variant	NM_007374.3(SIX6):c.121C>T (p.Pro41Ser)	not provided [RCV002996291]	uncertain significance	14	60509519	60509519	Human		name
156104302	CV2180290	single nucleotide variant	NM_007374.3(SIX6):c.145A>G (p.Lys49Glu)	not provided [RCV003054842]	uncertain significance	14	60509543	60509543	Human		name
329395349	CV2458289	single nucleotide variant	NM_007374.3(SIX6):c.155C>G (p.Ser52Trp)	not specified [RCV004265936]	uncertain significance	14	60509553	60509553	Human		name
401763105	CV2710442	single nucleotide variant	NM_007374.3(SIX6):c.124G>A (p.Ala42Thr)	not specified [RCV004317596]	uncertain significance	14	60509522	60509522	Human		name
401857516	CV2750491	single nucleotide variant	NM_007374.3(SIX6):c.105G>A (p.Trp35Ter)	not provided [RCV003334164]	likely pathogenic	14	60509503	60509503	Human		name
408388731	CV3529042	duplication	NM_007374.3(SIX6):c.359dup (p.Leu121fs)	not provided [RCV004773864]	uncertain significance	14	60509754	60509755	Human		name
598258563	CV3910892	single nucleotide variant	NM_007374.3(SIX6):c.122C>G (p.Pro41Arg)	not specified [RCV005279407]	uncertain significance	14	60509520	60509520	Human		name
151804336	CV1362844	single nucleotide variant	NM_007374.3(SIX6):c.446A>G (p.Gln149Arg)	not provided [RCV002028386]	uncertain significance	14	60509844	60509844	Human		name
151737418	CV1410777	single nucleotide variant	NM_007374.3(SIX6):c.410A>C (p.Glu137Ala)	not provided [RCV002005461]	uncertain significance	14	60509808	60509808	Human		name
151745736	CV1428204	single nucleotide variant	NM_007374.3(SIX6):c.579G>C (p.Gln193His)	not provided [RCV001926941]	uncertain significance	14	60511090	60511090	Human		name
151868993	CV1516713	single nucleotide variant	NM_007374.3(SIX6):c.473A>C (p.Lys158Thr)	not provided [RCV001981058]	conflicting interpretations of pathogenicity\|uncertain significance	14	60509871	60509871	Human		name
155942298	CV1868994	single nucleotide variant	NM_007374.3(SIX6):c.730T>C (p.Cys244Arg)	not provided [RCV003073623]	uncertain significance	14	60511241	60511241	Human		name
155961395	CV1922498	single nucleotide variant	NM_007374.3(SIX6):c.652G>A (p.Val218Ile)	not provided [RCV002616749]	uncertain significance	14	60511163	60511163	Human		name
156153899	CV1931189	single nucleotide variant	NM_007374.3(SIX6):c.727G>A (p.Glu243Lys)	not provided [RCV002663992]	uncertain significance	14	60511238	60511238	Human		name
8596421	CV19475	single nucleotide variant	NM_007374.3(SIX6):c.493A>G (p.Thr165Ala)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000004686]	pathogenic\|uncertain significance	14	60509891	60509891	Human	1	name
156339843	CV1974024	single nucleotide variant	NM_007374.3(SIX6):c.652G>T (p.Val218Phe)	not provided [RCV002601222]	uncertain significance	14	60511163	60511163	Human		name
156031870	CV2002430	single nucleotide variant	NM_007374.3(SIX6):c.732C>A (p.Cys244Ter)	not provided [RCV002658693]	uncertain significance	14	60511243	60511243	Human		name
156360309	CV2006985	single nucleotide variant	NM_007374.3(SIX6):c.376T>C (p.Trp126Arg)	not provided [RCV002676203]	uncertain significance	14	60509774	60509774	Human		name
156013045	CV2013144	single nucleotide variant	NM_007374.3(SIX6):c.608G>A (p.Arg203Gln)	not provided [RCV002734996]	uncertain significance	14	60511119	60511119	Human		name
156204233	CV2034875	single nucleotide variant	NM_007374.3(SIX6):c.340C>T (p.Arg114Ter)	not provided [RCV002766355]	uncertain significance	14	60509738	60509738	Human		name
156124387	CV2036212	single nucleotide variant	NM_007374.3(SIX6):c.515T>C (p.Val172Ala)	not provided [RCV002800357]	uncertain significance	14	60509913	60509913	Human		name
155999114	CV2057316	single nucleotide variant	NM_007374.3(SIX6):c.476G>A (p.Arg159His)	not provided [RCV002819562]	uncertain significance	14	60509874	60509874	Human		name
155974229	CV2062660	single nucleotide variant	NM_007374.3(SIX6):c.521A>G (p.Asn174Ser)	not provided [RCV002842216]	uncertain significance	14	60509919	60509919	Human		name
156131807	CV2073033	single nucleotide variant	NM_007374.3(SIX6):c.308G>T (p.Arg103Leu)	not provided [RCV002825701]	uncertain significance	14	60509706	60509706	Human		name
156164895	CV2090767	single nucleotide variant	NM_007374.3(SIX6):c.407A>C (p.Lys136Thr)	not provided [RCV002872799]	uncertain significance	14	60509805	60509805	Human		name
156247047	CV2101732	single nucleotide variant	NM_007374.3(SIX6):c.691G>A (p.Ala231Thr)	not provided [RCV002895125]	uncertain significance	14	60511202	60511202	Human		name
155952656	CV2123611	single nucleotide variant	NM_007374.3(SIX6):c.616C>G (p.Arg206Gly)	not provided [RCV002971949]	uncertain significance	14	60511127	60511127	Human		name
156090648	CV2135534	single nucleotide variant	NM_007374.3(SIX6):c.731G>A (p.Cys244Tyr)	not provided [RCV003001821]	uncertain significance	14	60511242	60511242	Human		name
156092598	CV2135622	single nucleotide variant	NM_007374.3(SIX6):c.503C>T (p.Thr168Ile)	not provided [RCV003001888]	uncertain significance	14	60509901	60509901	Human		name
156034887	CV2246624	single nucleotide variant	NM_007374.3(SIX6):c.443T>G (p.Leu148Arg)	not specified [RCV004110366]	uncertain significance	14	60509841	60509841	Human		name
156078674	CV2289490	single nucleotide variant	NM_007374.3(SIX6):c.710T>C (p.Ile237Thr)	not specified [RCV004154220]	uncertain significance	14	60511221	60511221	Human		name
156192783	CV2325769	single nucleotide variant	NM_007374.3(SIX6):c.314G>C (p.Arg105Thr)	not specified [RCV004173660]	uncertain significance	14	60509712	60509712	Human		name
329361604	CV2455780	single nucleotide variant	NM_007374.3(SIX6):c.695C>T (p.Thr232Ile)	not specified [RCV004279072]	uncertain significance	14	60511206	60511206	Human		name
329399727	CV2467620	single nucleotide variant	NM_007374.3(SIX6):c.661A>T (p.Ser221Cys)	not specified [RCV004287479]	uncertain significance	14	60511172	60511172	Human		name
11552020	CV254993	single nucleotide variant	NM_007374.3(SIX6):c.421C>A (p.His141Asn)	Anophthalmia-microphthalmia syndrome [RCV000270432]\|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000989235]\|not provided [RCV001675733]\|not specified [RCV000253819]	benign	14	60509819	60509819	Human	17	name
11552020	CV254993	single nucleotide variant	NM_007374.3(SIX6):c.421C>A (p.His141Asn)	Anophthalmia-microphthalmia syndrome [RCV000270432]\|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000989235]\|not provided [RCV001675733]\|not specified [RCV000253819]	benign	14	60509819	60509820	Human	17	name
401884286	CV2789638	single nucleotide variant	NM_007374.3(SIX6):c.475C>A (p.Arg159Ser)	not specified [RCV004360238]	uncertain significance	14	60509873	60509873	Human		name
11646625	CV329597	single nucleotide variant	NM_007374.3(SIX6):c.607C>T (p.Arg203Trp)	Anophthalmia-microphthalmia syndrome [RCV000271757]	uncertain significance	14	60511118	60511118	Human	1	name
407427760	CV3412058	single nucleotide variant	NM_007374.3(SIX6):c.533A>C (p.Asn178Thr)	not provided [RCV004592229]	uncertain significance	14	60509931	60509931	Human		name
407429563	CV3413973	single nucleotide variant	NM_007374.3(SIX6):c.496G>C (p.Gly166Arg)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV004595383]	uncertain significance	14	60509894	60509894	Human	1	name
597739277	CV3596098	single nucleotide variant	NM_007374.3(SIX6):c.671C>T (p.Ala224Val)	not specified [RCV004864431]	uncertain significance	14	60511182	60511182	Human		name
597739281	CV3596099	single nucleotide variant	NM_007374.3(SIX6):c.394A>G (p.Thr132Ala)	not specified [RCV004864432]	uncertain significance	14	60509792	60509792	Human		name
597739286	CV3596100	single nucleotide variant	NM_007374.3(SIX6):c.347G>A (p.Arg116Lys)	not specified [RCV004864433]	uncertain significance	14	60509745	60509745	Human		name
597689311	CV3710847	single nucleotide variant	NM_007374.3(SIX6):c.328G>T (p.Val110Leu)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV005007217]	uncertain significance	14	60509726	60509726	Human	1	name
597931451	CV3827103	single nucleotide variant	NM_007374.3(SIX6):c.550C>G (p.Arg184Gly)	not provided [RCV005157116]	uncertain significance	14	60509948	60509948	Human		name
598227593	CV3892914	single nucleotide variant	NM_007374.3(SIX6):c.433G>T (p.Glu145Ter)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV005255240]	likely pathogenic	14	60509831	60509831	Human	1	name
598258570	CV3910893	single nucleotide variant	NM_007374.3(SIX6):c.625G>T (p.Gly209Cys)	not specified [RCV005279408]	uncertain significance	14	60511136	60511136	Human		name
598258575	CV3910894	single nucleotide variant	NM_007374.3(SIX6):c.622G>A (p.Glu208Lys)	not specified [RCV005279409]	uncertain significance	14	60511133	60511133	Human		name
13462856	CV439068	single nucleotide variant	NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)	Anophthalmia-microphthalmia syndrome [RCV001113381]\|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000765177]\|SIX6-related disorder [RCV003915435]\|not provided [RCV000514964]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	60509783	60509783	Human	6	name , trait , alternate_id
13462856	CV439068	single nucleotide variant	NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)	Anophthalmia-microphthalmia syndrome [RCV001113381]\|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000765177]\|SIX6-related disorder [RCV003915435]\|not provided [RCV000514964]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	60509783	60509784	Human	6	name , trait , alternate_id
13534151	CV512941	single nucleotide variant	NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)	Anophthalmia-microphthalmia syndrome [RCV001113383]\|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000625468]\|not provided [RCV000877992]\|not specified [RCV001700427]	benign\|likely benign\|uncertain significance	14	60511125	60511125	Human	3	name
14976029	CV624881	single nucleotide variant	NM_007374.3(SIX6):c.547G>C (p.Asp183His)	Developmental cataract [RCV000845583]	pathogenic	14	60509945	60509945	Human	4	name
15152278	CV702929	single nucleotide variant	NM_007374.3(SIX6):c.737T>A (p.Ile246Asn)	SIX6-related disorder [RCV003913203]\|not provided [RCV000945851]	likely benign	14	60511248	60511248	Human	1	name , trait , alternate_id
15179152	CV714179	single nucleotide variant	NM_007374.3(SIX6):c.637C>T (p.Pro213Ser)	Anophthalmia-microphthalmia syndrome [RCV001114764]\|not provided [RCV000973840]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	60511148	60511148	Human	1	name
28876021	CV858757	single nucleotide variant	NM_007374.3(SIX6):c.549C>G (p.Asp183Glu)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV001090165]	likely pathogenic	14	60509947	60509947	Human	1	name
28870047	CV871975	single nucleotide variant	NM_007374.3(SIX6):c.389A>G (p.Gln130Arg)	Anophthalmia-microphthalmia syndrome [RCV001113382]\|not provided [RCV002558131]	uncertain significance	14	60509787	60509787	Human	1	name
28872932	CV871976	single nucleotide variant	NM_007374.3(SIX6):c.635C>T (p.Thr212Met)	Anophthalmia-microphthalmia syndrome [RCV001114763]\|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV005394745]\|not provided [RCV001856509]	uncertain significance	14	60511146	60511146	Human	4	name
28872938	CV871978	single nucleotide variant	NM_007374.3(SIX6):c.725G>T (p.Ser242Ile)	Anophthalmia-microphthalmia syndrome [RCV001114766]	uncertain significance	14	60511236	60511236	Human	1	name
156113879	CV2172440	deletion	NM_007374.3(SIX6):c.257_261del (p.Lys86fs)	not provided [RCV003039051]	uncertain significance	14	60509655	60509659	Human		name
10042954	CV187259	deletion	NM_007374.3(SIX6):c.532_536del (p.Asn178fs)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [RCV000169773]\|not provided [RCV000414384]	pathogenic\|likely pathogenic\|not provided	14	60509930	60509934	Human	1	name
151724937	CV1452124	indel	NM_007374.3(SIX6):c.725_726delinsTT (p.Ser242Ile)	not provided [RCV002040563]	uncertain significance	14	60511236	60511237	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message