Six6 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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139 records found for search term Six6

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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

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