Maf Variant Search Result - Rat Genome Database

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542 records found for search term Maf

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150463841	CV1206789	single nucleotide variant	NM_005360.5(MAF):c.-88C>T	not provided [RCV001587190]	likely benign	16	79599990	79599990	Human		name
150516669	CV1227180	deletion	NM_005360.5(MAF):c.*32del	not provided [RCV001639278]	benign	16	79594428	79594428	Human		name
150406853	CV1178052	single nucleotide variant	NM_005360.5(MAF):c.-282G>A	not provided [RCV001545394]	likely benign	16	79600184	79600184	Human		name
150423950	CV1185152	single nucleotide variant	NM_005360.5(MAF):c.*219G>C	not provided [RCV001556009]	likely benign	16	79594241	79594241	Human		name
150427603	CV1188409	single nucleotide variant	NM_005360.5(MAF):c.-526C>T	not provided [RCV001561142]	likely benign	16	79600428	79600428	Human		name
150426877	CV1188410	single nucleotide variant	NM_005360.5(MAF):c.-759C>T	not provided [RCV001560161]	likely benign	16	79600661	79600661	Human		name
150467888	CV1240953	single nucleotide variant	NM_005360.5(MAF):c.-780T>G	not provided [RCV001650411]	benign	16	79600682	79600683	Human	3	name
150467888	CV1240953	single nucleotide variant	NM_005360.5(MAF):c.-780T>G	not provided [RCV001650411]	benign	16	79600682	79600682	Human	3	name
150477429	CV1252012	single nucleotide variant	NM_005360.5(MAF):c.*176A>G	not provided [RCV001672211]	benign	16	79594284	79594284	Human		name
150499759	CV1254414	single nucleotide variant	NM_005360.5(MAF):c.-152C>T	not provided [RCV001676588]	benign	16	79600054	79600054	Human		name
150447663	CV1270343	single nucleotide variant	NM_005360.5(MAF):c.*185G>C	not provided [RCV001691480]	benign	16	79594275	79594275	Human		name
11552474	CV255890	microsatellite	NM_005360.5(MAF):c.-30GGC[7]	Ayme-Gripp syndrome [RCV001775745]\|Cataract 21 multiple types [RCV001775744]\|not provided [RCV001610662]\|not specified [RCV000254425]	benign	16	79599909	79599911	Human		name
11548857	CV255891	microsatellite	NM_005360.5(MAF):c.-30GGC[5]	not provided [RCV001660284]\|not specified [RCV000249646]	benign	16	79599909	79599917	Human		name
401924290	CV2801094	single nucleotide variant	NM_005360.5(MAF):c.1119-2A>G	MAF-related disorder [RCV003404683]	uncertain significance	16	79594555	79594555	Human		name , trait , alternate_id
401911874	CV2817833	microsatellite	NM_005360.5(MAF):c.-30GGC[6]	not provided [RCV003426852]	benign\|likely benign	16	79599909	79599914	Human		name
21072894	CV791647	microsatellite	NM_005360.5(MAF):c.-30GGC[4]	Cataract 21 multiple types [RCV000989643]\|not provided [RCV003424520]	likely benign	16	79599909	79599920	Human		name
150424898	CV1185153	single nucleotide variant	NM_005360.5(MAF):c.1118+36A>T	not provided [RCV001557278]	likely benign	16	79598749	79598749	Human		name
150469368	CV1207560	single nucleotide variant	NM_005360.5(MAF):c.1118+67T>C	not provided [RCV001588249]	likely benign	16	79598718	79598718	Human		name
150474767	CV1234499	deletion	NM_005360.5(MAF):c.1119-87del	not provided [RCV001651819]	benign	16	79594640	79594640	Human		name
405063560	CV3103032	single nucleotide variant	NM_005360.5(MAF):c.1119-12T>C	Cataract 21 multiple types [RCV003799023]	likely benign	16	79594565	79594565	Human	1	name
150415536	CV1178051	single nucleotide variant	NM_005360.5(MAF):c.1119-179C>T	not provided [RCV001548619]	likely benign	16	79594732	79594732	Human		name
150472546	CV1272507	duplication	NM_005360.5(MAF):c.1119-169dup	not provided [RCV001695563]	benign	16	79594712	79594713	Human		name
150497530	CV1281417	single nucleotide variant	NM_005360.5(MAF):c.1118+217C>T	not provided [RCV001717866]	benign	16	79598568	79598568	Human		name
150334065	CV1169693	microsatellite	NM_005360.5(MAF):c.1118+176AC[13]	not provided [RCV001537609]	benign	16	79598582	79598583	Human		name
150426519	CV1188408	microsatellite	NM_005360.5(MAF):c.1118+176AC[12]	not provided [RCV001559681]	likely benign	16	79598582	79598585	Human		name
150414298	CV1198817	microsatellite	NM_005360.5(MAF):c.1118+176AC[17]	not provided [RCV001574896]	likely benign	16	79598581	79598582	Human		name
150501239	CV1223656	microsatellite	NM_005360.5(MAF):c.1118+176AC[15]	not provided [RCV001620777]	benign	16	79598581	79598582	Human		name
150476642	CV1263674	microsatellite	NM_005360.5(MAF):c.1118+176AC[16]	not provided [RCV001685197]	benign	16	79598581	79598582	Human		name
151864155	CV1336788	microsatellite	NM_005360.5(MAF):c.1118+176AC[18]	not provided [RCV002034829]	likely benign	16	79598581	79598582	Human		name
152125888	CV1630319	single nucleotide variant	NM_005360.5(MAF):c.285C>A (p.Thr95=)	Cataract 21 multiple types [RCV002154866]\|not provided [RCV004598176]	likely benign	16	79599618	79599618	Human	1	name
156332458	CV2094912	single nucleotide variant	NM_005360.5(MAF):c.264G>A (p.Leu88=)	Cataract 21 multiple types [RCV002900009]	likely benign	16	79599639	79599639	Human	1	name
402493733	CV3092203	single nucleotide variant	NM_005360.5(MAF):c.138C>T (p.Cys46=)	Cataract 21 multiple types [RCV003787822]	likely benign	16	79599765	79599765	Human	1	name
405279362	CV3217483	single nucleotide variant	NM_005360.5(MAF):c.240G>C (p.Ser80=)	MAF-related disorder [RCV003976886]	likely benign	16	79599663	79599663	Human		name , trait , alternate_id
598225994	CV3894328	single nucleotide variant	NM_005360.5(MAF):c.23G>T (p.Ser8Ile)	not provided [RCV005257571]	uncertain significance	16	79599880	79599880	Human		name
126742854	CV1018150	single nucleotide variant	NM_005360.5(MAF):c.60A>T (p.Glu20Asp)	Ayme-Gripp syndrome [RCV001330055]	uncertain significance	16	79599843	79599843	Human	1	name
127298420	CV1146555	single nucleotide variant	NM_005360.5(MAF):c.528C>G (p.Gly176=)	Cataract 21 multiple types [RCV001498047]	likely benign	16	79599375	79599375	Human	1	name
150432062	CV1200521	single nucleotide variant	NM_005360.5(MAF):c.699C>A (p.Gly233=)	not provided [RCV001581244]	likely benign	16	79599204	79599204	Human		name
150445702	CV1278196	deletion	NM_005360.5(MAF):c.1119-88_1119-87del	not provided [RCV001707339]	benign	16	79594640	79594641	Human		name
151729091	CV1335302	single nucleotide variant	NM_005360.5(MAF):c.864G>A (p.Arg288=)	Cataract 21 multiple types [RCV005213612]\|not specified [RCV001844620]	likely benign	16	79599039	79599039	Human	1	name
152093544	CV1593499	single nucleotide variant	NM_005360.5(MAF):c.456C>T (p.Gly152=)	Cataract 21 multiple types [RCV002094523]	benign	16	79599447	79599447	Human	1	name
152145744	CV1649412	single nucleotide variant	NM_005360.5(MAF):c.939A>G (p.Arg313=)	Cataract 21 multiple types [RCV002121010]	likely benign	16	79598964	79598964	Human	1	name
152145751	CV1649413	single nucleotide variant	NM_005360.5(MAF):c.810T>G (p.Ser270=)	Cataract 21 multiple types [RCV002121011]	likely benign	16	79599093	79599093	Human	1	name
152150328	CV1662950	single nucleotide variant	NM_005360.5(MAF):c.696C>T (p.Gly232=)	Cataract 21 multiple types [RCV002158089]	likely benign	16	79599207	79599207	Human	1	name
155953162	CV1936185	single nucleotide variant	NM_005360.5(MAF):c.897C>T (p.Arg299=)	not provided [RCV002511842]	likely benign	16	79599006	79599006	Human		name
155953100	CV2014129	single nucleotide variant	NM_005360.5(MAF):c.594C>T (p.Gly198=)	Cataract 21 multiple types [RCV002686125]\|not provided [RCV003312060]	benign\|likely benign	16	79599309	79599309	Human	1	name
155986125	CV2070397	single nucleotide variant	NM_005360.5(MAF):c.828G>A (p.Arg276=)	Cataract 21 multiple types [RCV002842747]\|not provided [RCV003992683]	likely benign	16	79599075	79599075	Human	1	name
10766568	CV213994	single nucleotide variant	NM_005360.5(MAF):c.915C>T (p.Cys305=)	Developmental cataract [RCV000203395]	likely pathogenic	16	79598988	79598988	Human	2	name
11547703	CV255888	single nucleotide variant	NM_005360.5(MAF):c.882G>A (p.Arg294=)	Cataract 21 multiple types [RCV002058188]\|not specified [RCV000248111]	benign\|likely benign	16	79599021	79599021	Human	1	name
11545328	CV255889	single nucleotide variant	NM_005360.5(MAF):c.702A>C (p.Gly234=)	Cataract 21 multiple types [RCV000878139]\|Inborn genetic diseases [RCV004639199]\|not provided [RCV001640537]\|not specified [RCV000244986]	benign\|likely benign	16	79599201	79599201	Human	2	name
401931276	CV2795595	deletion	NM_005360.5(MAF):c.206del (p.Pro69fs)	Cataract 21 multiple types [RCV004765817]\|not provided [RCV003391163]	likely pathogenic	16	79599697	79599697	Human	1	name
401925032	CV2805199	single nucleotide variant	NM_005360.5(MAF):c.621C>A (p.Ala207=)	not specified [RCV003405020]	likely benign	16	79599282	79599282	Human		name
405085288	CV3107600	single nucleotide variant	NM_005360.5(MAF):c.726G>T (p.Ala242=)	Cataract 21 multiple types [RCV003800470]	likely benign	16	79599177	79599177	Human	1	name
405043025	CV3113024	single nucleotide variant	NM_005360.5(MAF):c.861C>T (p.Ile287=)	Cataract 21 multiple types [RCV003807691]	likely benign	16	79599042	79599042	Human	1	name
405267812	CV3198467	duplication	NM_005360.5(MAF):c.192dup (p.Ser65fs)	MAF-related disorder [RCV003911833]	uncertain significance	16	79599710	79599711	Human		name , trait , alternate_id
405293721	CV3214438	single nucleotide variant	NM_005360.5(MAF):c.726G>A (p.Ala242=)	MAF-related disorder [RCV003932123]	likely benign	16	79599177	79599177	Human		name , trait , alternate_id
407457027	CV3416033	single nucleotide variant	NM_005360.5(MAF):c.378C>A (p.Gly126=)	not provided [RCV004598910]	likely benign	16	79599525	79599525	Human		name
408383144	CV3504826	single nucleotide variant	NM_005360.5(MAF):c.72C>G (p.Asp24Glu)	MAF-related disorder [RCV004730449]	uncertain significance	16	79599831	79599831	Human		name , trait , alternate_id
408365873	CV3511016	single nucleotide variant	NM_005360.5(MAF):c.483C>T (p.Ala161=)	MAF-related disorder [RCV004755331]	likely benign	16	79599420	79599420	Human		name , trait , alternate_id
408389831	CV3524783	single nucleotide variant	NM_005360.5(MAF):c.82A>C (p.Met28Leu)	not provided [RCV004769678]	uncertain significance	16	79599821	79599821	Human		name
408383119	CV3525731	single nucleotide variant	NM_005360.5(MAF):c.582C>T (p.His194=)	not specified [RCV004766641]	likely benign	16	79599321	79599321	Human		name
596942223	CV3544022	single nucleotide variant	NM_005360.5(MAF):c.495C>T (p.Ser165=)	not specified [RCV004800012]	likely benign	16	79599408	79599408	Human		name
597857996	CV3877889	single nucleotide variant	NM_005360.5(MAF):c.576C>T (p.His192=)	Cataract 21 multiple types [RCV005229198]	likely benign	16	79599327	79599327	Human	1	name
597931607	CV3878612	single nucleotide variant	NM_005360.5(MAF):c.588G>A (p.Thr196=)	Cataract 21 multiple types [RCV005224982]	likely benign	16	79599315	79599315	Human	1	name
13480464	CV445627	duplication	NM_005360.5(MAF):c.208dup (p.Ser70fs)	not provided [RCV000521239]	pathogenic	16	79599694	79599695	Human		name
13624280	CV530563	single nucleotide variant	NM_005360.5(MAF):c.942C>T (p.His314=)	Cataract 21 multiple types [RCV000652088]	likely benign	16	79598961	79598961	Human	1	name
15142421	CV693934	single nucleotide variant	NM_005360.5(MAF):c.453C>A (p.Gly151=)	Cataract 21 multiple types [RCV000877866]	likely benign	16	79599450	79599450	Human	1	name
15180137	CV703836	single nucleotide variant	NM_005360.5(MAF):c.696C>A (p.Gly232=)	Cataract 21 multiple types [RCV001506630]\|not provided [RCV000951678]	likely benign	16	79599207	79599207	Human	1	name
127312168	CV1157871	single nucleotide variant	NM_005360.5(MAF):c.1179G>A (p.Gln393=)	Cataract 21 multiple types [RCV001518860]\|MAF-related disorder [RCV003921141]\|not provided [RCV003416381]	benign\|likely benign	16	79594493	79594493	Human	2	name , trait , alternate_id
150459627	CV1202949	single nucleotide variant	NM_005360.5(MAF):c.180G>T (p.Met60Ile)	not provided [RCV001586602]	uncertain significance	16	79599723	79599723	Human		name
150556997	CV1310318	single nucleotide variant	NM_005360.5(MAF):c.185C>T (p.Thr62Met)	Ayme-Gripp syndrome [RCV001775246]\|Cataract 21 multiple types [RCV002541042]	likely pathogenic	16	79599718	79599718	Human	2	name
151729665	CV1517697	single nucleotide variant	NM_005360.5(MAF):c.163C>G (p.Leu55Val)	not provided [RCV002052312]	uncertain significance	16	79599740	79599740	Human		name
9691300	CV172185	single nucleotide variant	NM_005360.5(MAF):c.206C>G (p.Pro69Arg)	Ayme-Gripp syndrome [RCV000149908]\|not provided [RCV000413144]	pathogenic\|likely pathogenic	16	79599697	79599697	Human	1	name
9691299	CV172186	single nucleotide variant	NM_005360.5(MAF):c.185C>G (p.Thr62Arg)	Ayme-Gripp syndrome [RCV000149907]\|not provided [RCV002264911]	pathogenic	16	79599718	79599718	Human	1	name
9691298	CV172187	single nucleotide variant	NM_005360.5(MAF):c.176C>T (p.Pro59Leu)	Ayme-Gripp syndrome [RCV000149906]	pathogenic	16	79599727	79599727	Human	1	name
9691297	CV172188	single nucleotide variant	NM_005360.5(MAF):c.176C>A (p.Pro59His)	Ayme-Gripp syndrome [RCV000149905]	pathogenic	16	79599727	79599727	Human	1	name
9691296	CV172189	single nucleotide variant	NM_005360.5(MAF):c.173C>T (p.Thr58Ile)	Ayme-Gripp syndrome [RCV000149904]\|not provided [RCV000254853]	pathogenic	16	79599730	79599730	Human	1	name
9691295	CV172190	single nucleotide variant	NM_005360.5(MAF):c.172A>G (p.Thr58Ala)	Ayme-Gripp syndrome [RCV000149903]	pathogenic	16	79599731	79599731	Human	1	name
9691294	CV172191	single nucleotide variant	NM_005360.5(MAF):c.161C>T (p.Ser54Leu)	Ayme-Gripp syndrome [RCV000149902]\|MAF-related disorder [RCV004754316]\|not provided [RCV003153434]	pathogenic	16	79599742	79599742	Human	1	name , trait , alternate_id
401867326	CV2748875	single nucleotide variant	NM_005360.5(MAF):c.1050G>A (p.Lys350=)	not specified [RCV003331697]	uncertain significance	16	79598853	79598853	Human		name
404980202	CV3099549	single nucleotide variant	NM_005360.5(MAF):c.260A>C (p.His87Pro)	Cataract 21 multiple types [RCV003791378]	uncertain significance	16	79599643	79599643	Human	1	name
405270290	CV3187673	single nucleotide variant	NM_005360.5(MAF):c.1137G>A (p.Lys379=)	not provided [RCV003887757]	uncertain significance	16	79594535	79594535	Human		name
407426482	CV3409968	single nucleotide variant	NM_005360.5(MAF):c.1009C>T (p.Leu337=)	not provided [RCV004585900]	likely benign	16	79598894	79598894	Human		name
408394492	CV3518321	single nucleotide variant	NM_005360.5(MAF):c.197C>T (p.Ser66Leu)	Ayme-Gripp syndrome [RCV004759644]	pathogenic\|likely pathogenic	16	79599706	79599706	Human	1	name
12741784	CV361002	single nucleotide variant	NM_005360.5(MAF):c.188C>G (p.Pro63Arg)	Developmental cataract [RCV000415117]	likely pathogenic	16	79599715	79599715	Human	2	name
597712628	CV3693984	single nucleotide variant	NM_005360.5(MAF):c.164T>C (p.Leu55Pro)	Inborn genetic diseases [RCV004990417]	uncertain significance	16	79599739	79599739	Human	1	name
13532346	CV512226	single nucleotide variant	NM_005360.5(MAF):c.170C>T (p.Ser57Phe)	Inborn genetic diseases [RCV000624111]\|not provided [RCV004719906]	likely pathogenic\|uncertain significance	16	79599733	79599733	Human	1	name
13624311	CV530778	single nucleotide variant	NM_005360.5(MAF):c.293C>A (p.Pro98Gln)	Cataract 21 multiple types [RCV000652086]	benign\|uncertain significance	16	79599610	79599610	Human	1	name
40888378	CV971470	single nucleotide variant	NM_005360.5(MAF):c.224C>T (p.Ala75Val)	Ayme-Gripp syndrome [RCV004799480]	uncertain significance	16	79599679	79599679	Human	1	name
127277971	CV1082455	single nucleotide variant	NM_005360.5(MAF):c.649G>A (p.Gly217Ser)	Cataract 21 multiple types [RCV001408192]\|Inborn genetic diseases [RCV004038036]	likely benign	16	79599254	79599254	Human	2	name
150338475	CV1174194	single nucleotide variant	NM_005360.5(MAF):c.743C>A (p.Pro248Gln)	Ayme-Gripp syndrome [RCV001542409]	uncertain significance	16	79599160	79599160	Human	1	name
150483654	CV1210169	single nucleotide variant	NM_005360.5(MAF):c.433G>A (p.Gly145Ser)	Cataract 21 multiple types [RCV003771801]\|MAF-related disorder [RCV003941041]\|not provided [RCV001590868]	benign\|likely benign\|uncertain significance	16	79599470	79599470	Human	2	name , trait , alternate_id
150549495	CV1299480	single nucleotide variant	NM_005360.5(MAF):c.520C>G (p.Gln174Glu)	not provided [RCV001752406]	uncertain significance	16	79599383	79599383	Human		name
150542130	CV1302500	single nucleotide variant	NM_005360.5(MAF):c.898G>A (p.Gly300Ser)	not provided [RCV001761190]	uncertain significance	16	79599005	79599005	Human		name
150554511	CV1304213	single nucleotide variant	NM_005360.5(MAF):c.460G>A (p.Gly154Ser)	Cataract 21 multiple types [RCV002074020]\|Inborn genetic diseases [RCV002540523]\|MAF-related disorder [RCV003968537]\|not provided [RCV001771183]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	79599443	79599443	Human	3	name , trait , alternate_id
151858469	CV1360183	single nucleotide variant	NM_005360.5(MAF):c.895C>T (p.Arg299Cys)	Cataract 21 multiple types [RCV001904986]\|Cataract 21 multiple types [RCV005255691]	pathogenic\|likely pathogenic	16	79599008	79599008	Human	1	name
151711360	CV1395039	single nucleotide variant	NM_005360.5(MAF):c.797T>G (p.Leu266Arg)	Cataract 21 multiple types [RCV001964365]	uncertain significance	16	79599106	79599106	Human	1	name
152978340	CV1671532	single nucleotide variant	NM_005360.5(MAF):c.487G>C (p.Val163Leu)	Ayme-Gripp syndrome [RCV002227637]	uncertain significance	16	79599416	79599416	Human	1	name
153346430	CV1691710	single nucleotide variant	NM_005360.5(MAF):c.412C>A (p.Leu138Met)	Cataract 21 multiple types [RCV002273193]\|Cataract 21 multiple types [RCV003096150]\|not provided [RCV004809804]	likely benign\|uncertain significance	16	79599491	79599491	Human	1	name
153349962	CV1693688	single nucleotide variant	NM_005360.5(MAF):c.731G>T (p.Gly244Val)	not provided [RCV002276398]	uncertain significance	16	79599172	79599172	Human		name
155643490	CV1707871	single nucleotide variant	NM_005360.5(MAF):c.984C>G (p.Asp328Glu)	Ayme-Gripp syndrome [RCV002289332]	uncertain significance	16	79598919	79598919	Human	1	name
155643638	CV1707989	single nucleotide variant	NM_005360.5(MAF):c.899G>A (p.Gly300Asp)	Cataract 21 multiple types [RCV002289450]	uncertain significance	16	79599004	79599004	Human	1	name
155641536	CV1709830	single nucleotide variant	NM_005360.5(MAF):c.820C>G (p.Leu274Val)	not provided [RCV002292930]	uncertain significance	16	79599083	79599083	Human		name
155710394	CV1779629	single nucleotide variant	NM_005360.5(MAF):c.922A>G (p.Lys308Glu)	Cataract 21 multiple types [RCV002302259]	uncertain significance	16	79598981	79598981	Human	1	name
155799949	CV1862720	single nucleotide variant	NM_005360.5(MAF):c.712G>T (p.Gly238Cys)	Ayme-Gripp syndrome [RCV002472127]	uncertain significance	16	79599191	79599191	Human	1	name
156159931	CV1872233	single nucleotide variant	NM_005360.5(MAF):c.644G>A (p.Gly215Asp)	Cataract 21 multiple types [RCV003056856]	uncertain significance	16	79599259	79599259	Human	1	name
10044812	CV188064	single nucleotide variant	NM_005360.5(MAF):c.895C>A (p.Arg299Ser)	Cataract 21 multiple types [RCV000170458]\|not provided [RCV002223802]	pathogenic\|likely pathogenic	16	79599008	79599008	Human	1	name
10044813	CV188065	single nucleotide variant	NM_005360.5(MAF):c.908A>C (p.Gln303Pro)	Cataract 21 multiple types [RCV000170459]	pathogenic	16	79598995	79598995	Human	1	name
155953139	CV1936184	single nucleotide variant	NM_005360.5(MAF):c.914G>T (p.Cys305Phe)	not provided [RCV002511841]	likely pathogenic	16	79598989	79598989	Human		name
156329129	CV1969820	single nucleotide variant	NM_005360.5(MAF):c.641G>C (p.Gly214Ala)	Cataract 21 multiple types [RCV002600695]	benign	16	79599262	79599262	Human	1	name
156102344	CV2051172	single nucleotide variant	NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)	Cataract 21 multiple types [RCV002824603]	uncertain significance	16	79599001	79599001	Human	1	name
156278535	CV2054714	single nucleotide variant	NM_005360.5(MAF):c.866T>A (p.Leu289Gln)	Cataract 21 multiple types [RCV002832755]	uncertain significance	16	79599037	79599037	Human	1	name
155948090	CV2087727	single nucleotide variant	NM_005360.5(MAF):c.308C>A (p.Pro103His)	Cataract 21 multiple types [RCV002880343]	likely benign	16	79599595	79599595	Human	1	name
156015124	CV2121338	single nucleotide variant	NM_005360.5(MAF):c.655G>A (p.Gly219Ser)	Cataract 21 multiple types [RCV002948492]	uncertain significance	16	79599248	79599248	Human	1	name
156151604	CV2124993	single nucleotide variant	NM_005360.5(MAF):c.468G>C (p.Glu156Asp)	Cataract 21 multiple types [RCV002928922]	uncertain significance	16	79599435	79599435	Human	1	name
10766572	CV213995	single nucleotide variant	NM_005360.5(MAF):c.880C>T (p.Arg294Trp)	Developmental cataract [RCV000203408]	likely pathogenic	16	79599023	79599023	Human	2	name
10766567	CV213996	single nucleotide variant	NM_005360.5(MAF):c.819G>C (p.Glu273Asp)	Developmental cataract [RCV000203389]	likely pathogenic	16	79599084	79599084	Human	2	name
156027430	CV2145807	single nucleotide variant	NM_005360.5(MAF):c.935A>G (p.Gln312Arg)	Cataract 21 multiple types [RCV003018525]	uncertain significance	16	79598968	79598968	Human	1	name
156327967	CV2219983	single nucleotide variant	NM_005360.5(MAF):c.593G>A (p.Gly198Asp)	Inborn genetic diseases [RCV002717643]\|MAF-related disorder [RCV003900884]	uncertain significance	16	79599310	79599310	Human	2	name , trait , alternate_id
156341746	CV2225914	single nucleotide variant	NM_005360.5(MAF):c.478G>A (p.Ala160Thr)	Inborn genetic diseases [RCV002719204]	uncertain significance	16	79599425	79599425	Human	1	name
156150440	CV2235029	single nucleotide variant	NM_005360.5(MAF):c.487G>A (p.Val163Met)	Inborn genetic diseases [RCV002786863]	uncertain significance	16	79599416	79599416	Human	1	name
155994716	CV2286443	single nucleotide variant	NM_005360.5(MAF):c.604G>A (p.Ala202Thr)	Inborn genetic diseases [RCV002864816]	uncertain significance	16	79599299	79599299	Human	1	name
156174183	CV2355234	single nucleotide variant	NM_005360.5(MAF):c.547C>A (p.His183Asn)	Inborn genetic diseases [RCV002983653]\|not provided [RCV003427648]	likely benign\|uncertain significance	16	79599356	79599356	Human	1	name
156019441	CV2366940	single nucleotide variant	NM_005360.5(MAF):c.578A>C (p.His193Pro)	Inborn genetic diseases [RCV002998566]	uncertain significance	16	79599325	79599325	Human	1	name
156019454	CV2366941	single nucleotide variant	NM_005360.5(MAF):c.586A>C (p.Thr196Pro)	Inborn genetic diseases [RCV002998567]	uncertain significance	16	79599317	79599317	Human	1	name
156176003	CV2374416	single nucleotide variant	NM_005360.5(MAF):c.760G>C (p.Gly254Arg)	Inborn genetic diseases [RCV002699089]	uncertain significance	16	79599143	79599143	Human	1	name
155928037	CV2391635	single nucleotide variant	NM_005360.5(MAF):c.334G>T (p.Asp112Tyr)	Inborn genetic diseases [RCV002773905]	uncertain significance	16	79599569	79599569	Human	1	name
243058872	CV2413233	single nucleotide variant	NM_005360.5(MAF):c.442G>T (p.Ala148Ser)	not provided [RCV003134151]	uncertain significance	16	79599461	79599461	Human		name
243053157	CV2418434	single nucleotide variant	NM_005360.5(MAF):c.959A>G (p.Lys320Arg)	not provided [RCV003154144]	uncertain significance	16	79598944	79598944	Human		name
329952222	CV2668924	single nucleotide variant	NM_005360.5(MAF):c.610G>A (p.Gly204Ser)	not specified [RCV003231008]	uncertain significance	16	79599293	79599293	Human		name
401751069	CV2700167	single nucleotide variant	NM_005360.5(MAF):c.619G>T (p.Ala207Ser)	Inborn genetic diseases [RCV003253869]	likely benign	16	79599284	79599284	Human	1	name
404978334	CV2739561	single nucleotide variant	NM_005360.5(MAF):c.871C>G (p.Gln291Glu)	Cataract 21 multiple types [RCV003487066]	likely pathogenic	16	79599032	79599032	Human	1	name
401857271	CV2752158	single nucleotide variant	NM_005360.5(MAF):c.860T>G (p.Ile287Ser)	Cataract 21 multiple types [RCV003336035]	uncertain significance	16	79599043	79599043	Human	1	name
401931559	CV2803710	single nucleotide variant	NM_005360.5(MAF):c.862C>G (p.Arg288Gly)	MAF-related disorder [RCV003408362]	uncertain significance	16	79599041	79599041	Human		name , trait , alternate_id
401911873	CV2817832	single nucleotide variant	NM_005360.5(MAF):c.590C>G (p.Ala197Gly)	not provided [RCV003426851]	uncertain significance	16	79599313	79599313	Human		name
8599308	CV28270	single nucleotide variant	NM_005360.5(MAF):c.863G>C (p.Arg288Pro)	Cataract 21 multiple types [RCV000014136]	pathogenic	16	79599040	79599040	Human	1	name
8599309	CV28271	single nucleotide variant	NM_005360.5(MAF):c.890A>G (p.Lys297Arg)	Cataract 21 multiple types [RCV000014137]	pathogenic	16	79599013	79599013	Human	1	name
401913520	CV2830432	single nucleotide variant	NM_005360.5(MAF):c.827G>C (p.Arg276Pro)	not provided [RCV003441647]	uncertain significance	16	79599076	79599076	Human		name
401944512	CV2840175	single nucleotide variant	NM_005360.5(MAF):c.695G>T (p.Gly232Val)	not provided [RCV003457258]	uncertain significance	16	79599208	79599208	Human		name
405047768	CV3084426	single nucleotide variant	NM_005360.5(MAF):c.892A>C (p.Asn298His)	Cataract 21 multiple types [RCV003797833]	uncertain significance	16	79599011	79599011	Human	1	name
404996782	CV3085453	single nucleotide variant	NM_005360.5(MAF):c.894C>A (p.Asn298Lys)	Cataract 21 multiple types [RCV003782984]	uncertain significance	16	79599009	79599009	Human	1	name
404991215	CV3091281	single nucleotide variant	NM_005360.5(MAF):c.592G>A (p.Gly198Ser)	Cataract 21 multiple types [RCV003792754]	benign\|uncertain significance	16	79599311	79599311	Human	1	name
405288659	CV3193766	single nucleotide variant	NM_005360.5(MAF):c.895C>G (p.Arg299Gly)	MAF-related disorder [RCV003982772]	uncertain significance	16	79599008	79599008	Human		name , trait , alternate_id
405259608	CV3195121	single nucleotide variant	NM_005360.5(MAF):c.598C>A (p.Pro200Thr)	MAF-related disorder [RCV003894318]	uncertain significance	16	79599305	79599305	Human		name , trait , alternate_id
405854515	CV3393102	single nucleotide variant	NM_005360.5(MAF):c.376G>T (p.Gly126Cys)	not specified [RCV004527259]	uncertain significance	16	79599527	79599527	Human		name
408377306	CV3501130	single nucleotide variant	NM_005360.5(MAF):c.916C>T (p.Arg306Cys)	not provided [RCV004721761]	likely pathogenic	16	79598987	79598987	Human		name
408370164	CV3503002	single nucleotide variant	NM_005360.5(MAF):c.779G>C (p.Arg260Pro)	not provided [RCV004724123]	uncertain significance	16	79599124	79599124	Human		name
408383754	CV3507096	single nucleotide variant	NM_005360.5(MAF):c.915C>G (p.Cys305Trp)	MAF-related disorder [RCV004730809]	uncertain significance	16	79598988	79598988	Human		name , trait , alternate_id
408391545	CV3523248	single nucleotide variant	NM_005360.5(MAF):c.866T>G (p.Leu289Arg)	not provided [RCV004770621]	uncertain significance	16	79599037	79599037	Human		name
408381595	CV3523919	single nucleotide variant	NM_005360.5(MAF):c.892A>T (p.Asn298Tyr)	not provided [RCV004766317]	pathogenic	16	79599011	79599011	Human		name
408392665	CV3525316	single nucleotide variant	NM_005360.5(MAF):c.306C>A (p.Asn102Lys)	not provided [RCV004771202]	uncertain significance	16	79599597	79599597	Human		name
597712637	CV3693985	single nucleotide variant	NM_005360.5(MAF):c.641G>T (p.Gly214Val)	Inborn genetic diseases [RCV004990418]	uncertain significance	16	79599262	79599262	Human	1	name
597712650	CV3693987	single nucleotide variant	NM_005360.5(MAF):c.640G>A (p.Gly214Arg)	Inborn genetic diseases [RCV004990420]	uncertain significance	16	79599263	79599263	Human	1	name
597833543	CV3735016	single nucleotide variant	NM_005360.5(MAF):c.817G>A (p.Glu273Lys)	not provided [RCV005054749]	uncertain significance	16	79599086	79599086	Human		name
597895772	CV3865564	single nucleotide variant	NM_005360.5(MAF):c.647C>G (p.Ala216Gly)	Cataract 21 multiple types [RCV005219542]	uncertain significance	16	79599256	79599256	Human	1	name
598123164	CV3885040	single nucleotide variant	NM_005360.5(MAF):c.386A>G (p.Asp129Gly)	not specified [RCV005238649]	uncertain significance	16	79599517	79599517	Human		name
598125159	CV3885621	single nucleotide variant	NM_005360.5(MAF):c.535C>T (p.Pro179Ser)	not specified [RCV005240199]	uncertain significance	16	79599368	79599368	Human		name
598123578	CV3890395	deletion	NM_005360.5(MAF):c.1097del (p.Pro366fs)	not provided [RCV005250914]	uncertain significance	16	79598806	79598806	Human		name
598203139	CV3892885	single nucleotide variant	NM_005360.5(MAF):c.817G>T (p.Glu273Ter)	not provided [RCV005255215]	uncertain significance	16	79599086	79599086	Human		name
598183722	CV3992267	single nucleotide variant	NM_005360.5(MAF):c.454G>A (p.Gly152Ser)	Inborn genetic diseases [RCV005372975]	uncertain significance	16	79599449	79599449	Human	1	name
13476257	CV466018	single nucleotide variant	NM_005360.5(MAF):c.611G>T (p.Gly204Val)	Cataract 21 multiple types [RCV000556258]\|Inborn genetic diseases [RCV002526706]\|not provided [RCV001692191]	benign	16	79599292	79599292	Human	2	name
13472637	CV466721	single nucleotide variant	NM_005360.5(MAF):c.905C>T (p.Ala302Val)	Cataract 21 multiple types [RCV000533204]\|Cataract 21 multiple types [RCV003486884]	likely pathogenic\|uncertain significance	16	79598998	79598998	Human	1	name
13476054	CV466723	single nucleotide variant	NM_005360.5(MAF):c.768C>G (p.His256Gln)	Cataract 21 multiple types [RCV000555075]	uncertain significance	16	79599135	79599135	Human	1	name
13473720	CV467002	single nucleotide variant	NM_005360.5(MAF):c.715G>A (p.Ala239Thr)	Cataract 21 multiple types [RCV000540203]\|not provided [RCV001552436]	benign\|likely benign\|uncertain significance	16	79599188	79599188	Human	1	name
14741722	CV645006	single nucleotide variant	NM_005360.5(MAF):c.881G>A (p.Arg294Gln)	Cataract 21 multiple types [RCV000822360]	pathogenic	16	79599022	79599022	Human	1	name
38463674	CV919679	single nucleotide variant	NM_005360.5(MAF):c.941A>C (p.His314Pro)	Cataract 21 multiple types [RCV001199226]	likely pathogenic	16	79598962	79598962	Human	1	name
38493622	CV927962	single nucleotide variant	NM_005360.5(MAF):c.916C>G (p.Arg306Gly)	Cataract 21 multiple types [RCV001224384]\|Inborn genetic diseases [RCV004639507]	pathogenic\|likely pathogenic\|uncertain significance	16	79598987	79598987	Human	2	name
38482791	CV949589	single nucleotide variant	NM_005360.5(MAF):c.914G>A (p.Cys305Tyr)	Cataract 21 multiple types [RCV001235674]	uncertain significance	16	79598989	79598989	Human	1	name
38464897	CV949590	single nucleotide variant	NM_005360.5(MAF):c.905C>A (p.Ala302Asp)	Cataract 21 multiple types [RCV001230059]	uncertain significance	16	79598998	79598998	Human	1	name
40887006	CV974018	single nucleotide variant	NM_005360.5(MAF):c.887T>C (p.Leu296Pro)	Inborn genetic diseases [RCV001266373]	uncertain significance	16	79599016	79599016	Human	1	name
127286781	CV1152693	single nucleotide variant	NM_005360.5(MAF):c.1132C>A (p.Arg378Ser)	not provided [RCV001507349]	uncertain significance	16	79594540	79594540	Human		name
150528081	CV1301603	single nucleotide variant	NM_005360.5(MAF):c.1037A>G (p.Glu346Gly)	not provided [RCV001754975]	uncertain significance	16	79598866	79598866	Human		name
401775197	CV2692291	single nucleotide variant	NM_005360.5(MAF):c.1138T>A (p.Leu380Met)	Inborn genetic diseases [RCV003286010]	uncertain significance	16	79594534	79594534	Human	1	name
407573113	CV3498913	single nucleotide variant	NM_005360.5(MAF):c.1181A>T (p.His394Leu)	not specified [RCV004699883]	uncertain significance	16	79594491	79594491	Human		name
408392407	CV3528006	single nucleotide variant	NM_005360.5(MAF):c.1169G>A (p.Trp390Ter)	not provided [RCV004775774]	uncertain significance	16	79594503	79594503	Human		name
596924307	CV3532204	single nucleotide variant	NM_005360.5(MAF):c.1079G>C (p.Gly360Ala)	not provided [RCV004777315]	uncertain significance	16	79598824	79598824	Human		name
597712644	CV3693986	single nucleotide variant	NM_005360.5(MAF):c.1150G>T (p.Val384Leu)	Inborn genetic diseases [RCV004990419]	uncertain significance	16	79594522	79594522	Human	1	name
598183725	CV3992269	single nucleotide variant	NM_005360.5(MAF):c.1007G>C (p.Arg336Thr)	Inborn genetic diseases [RCV005372976]	uncertain significance	16	79598896	79598896	Human	1	name
616933651	CV4011609	single nucleotide variant	NM_005360.5(MAF):c.1015C>A (p.Arg339Ser)	not specified [RCV005408157]	uncertain significance	16	79598888	79598888	Human		name
616937795	CV4014821	single nucleotide variant	NM_005360.5(MAF):c.1097C>G (p.Pro366Arg)	not provided [RCV005411837]	uncertain significance	16	79598806	79598806	Human		name
15174467	CV703835	single nucleotide variant	NM_005360.5(MAF):c.1028C>T (p.Ala343Val)	Cataract 21 multiple types [RCV001515883]	benign	16	79598875	79598875	Human	1	name
26902426	CV844360	single nucleotide variant	NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)	Cataract 21 multiple types [RCV001071892]	uncertain significance	16	79598793	79598793	Human	1	name
126908042	CV1049903	deletion	NM_005360.5(MAF):c.435_440del (p.143GA[2])	Cataract 21 multiple types [RCV001367521]	likely benign\|uncertain significance	16	79599463	79599468	Human	1	name
127316323	CV1146554	microsatellite	NM_005360.5(MAF):c.678CGG[7] (p.Gly238del)	Cataract 21 multiple types [RCV001482781]\|Inborn genetic diseases [RCV005369894]\|not provided [RCV001565674]	likely benign\|uncertain significance	16	79599202	79599204	Human		name
151737645	CV1469448	microsatellite	NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)	Cataract 21 multiple types [RCV002041896]\|Inborn genetic diseases [RCV002545408]	likely benign\|uncertain significance	16	79599201	79599202	Human		name
401921021	CV2802199	microsatellite	NM_005360.5(MAF):c.848AGG[2] (p.Glu285del)	MAF-related disorder [RCV003402816]	likely pathogenic	16	79599047	79599049	Human		name , trait , alternate_id
596922830	CV3530120	microsatellite	NM_005360.5(MAF):c.716_726dup (p.Gly243fs)	not provided [RCV004776719]	uncertain significance	16	79599176	79599177	Human		name
12849086	CV363684	microsatellite	NM_005360.5(MAF):c.544CAC[5] (p.His187del)	MAF-related disorder [RCV003912595]\|not provided [RCV000423794]	likely benign	16	79599342	79599344	Human		name , trait , alternate_id
150414747	CV1191839	insertion	NM_005360.5(MAF):c.1118+183_1118+184insCACG	not provided [RCV001567676]	likely benign	16	79598601	79598602	Human		name
401943742	CV2840176	indel	NM_005360.5(MAF):c.391_392delinsCT (p.Tyr131Leu)	not provided [RCV003456946]	uncertain significance	16	79599511	79599512	Human		name
13624283	CV530361	indel	NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)	Cataract 21 multiple types [RCV000652087]	pathogenic\|uncertain significance	16	79599591	79599608	Human		name
151755537	CV1480273	microsatellite	NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del)	Cataract 21 multiple types [RCV001948580]	benign\|uncertain significance	16	79599202	79599213	Human		name
156323225	CV2134304	microsatellite	NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del)	Cataract 21 multiple types [RCV002963351]	likely benign	16	79599202	79599210	Human		name
405166280	CV3107125	microsatellite	NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del)	Cataract 21 multiple types [RCV003802616]	likely benign	16	79599202	79599207	Human		name
404980281	CV3099562	deletion	NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)	Cataract 21 multiple types [RCV003791391]	uncertain significance	16	79599402	79599413	Human	1	name
405168804	CV3104150	deletion	NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)	Cataract 21 multiple types [RCV003802827]	uncertain significance	16	79599069	79599080	Human	1	name
616936146	CV4016216	deletion	NM_005360.5(MAF):c.609_638del (p.Ser205_Gly214del)	not provided [RCV005415082]	uncertain significance	16	79599265	79599294	Human		name
13471519	CV467005	deletion	NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)	Cataract 21 multiple types [RCV000525623]\|Inborn genetic diseases [RCV002525313]\|not provided [RCV003424143]	likely benign\|uncertain significance	16	79599193	79599207	Human	2	name
13803396	CV570496	microsatellite	NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup)	Cataract 21 multiple types [RCV000699211]\|MAF-related disorder [RCV003907951]\|not provided [RCV001585643]	likely benign\|uncertain significance	16	79599201	79599202	Human		name , trait , alternate_id
156101965	CV2011635	microsatellite	NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly)	Cataract 21 multiple types [RCV002695340]\|not provided [RCV003418586]	benign\|likely benign\|uncertain significance	16	79599192	79599193	Human		name
156164761	CV2090752	microsatellite	NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly)	Cataract 21 multiple types [RCV002872794]	likely benign	16	79599192	79599193	Human		name
598225093	CV3894201	microsatellite	NM_005360.5(MAF):c.544CAC[8] (p.His187_Ala188insHisHis)	not provided [RCV005257444]	uncertain significance	16	79599341	79599342	Human		name
401918831	CV2794672	duplication	NM_005360.5(MAF):c.435_440dup (p.Ala148_Ser149insGlyAla)	not specified [RCV003388346]	uncertain significance	16	79599462	79599463	Human		name
156393537	CV2120507	microsatellite	NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis)	Cataract 21 multiple types [RCV002944168]	likely benign	16	79599341	79599342	Human		name
402497070	CV3092557	microsatellite	NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)	Cataract 21 multiple types [RCV003788177]	uncertain significance	16	79599201	79599202	Human		name
597838825	CV3867592	duplication	NM_005360.5(MAF):c.675_683dup (p.Gly238_Ala239insGlyGlyGly)	Cataract 21 multiple types [RCV005210787]	uncertain significance	16	79599219	79599220	Human	1	name
405273493	CV3192178	single nucleotide variant	NM_005461.5(MAFB):c.-1G>T	MAFB-related disorder [RCV003914715]	benign	20	40688851	40688851	Human		name , trait , alternate_id
405290169	CV3214126	single nucleotide variant	NM_201589.4(MAFA):c.*2C>T	MAFA-related disorder [RCV003926961]	likely benign	8	143429343	143429343	Human		name , trait , alternate_id
405270781	CV3219690	single nucleotide variant	NM_005461.5(MAFB):c.*9C>T	MAFB-related disorder [RCV003971449]	likely benign	20	40687870	40687870	Human		name , trait , alternate_id
11631221	CV345237	single nucleotide variant	NM_005461.5(MAFB):c.*68G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370422]\|not provided [RCV004718532]	benign\|likely benign	20	40687811	40687811	Human	1	name
11644274	CV345240	single nucleotide variant	NM_005461.5(MAFB):c.*64C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000259239]	uncertain significance	20	40687815	40687815	Human	1	name
11629442	CV345249	single nucleotide variant	NM_005461.5(MAFB):c.-75C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000324089]	benign\|likely benign	20	40688925	40688925	Human	1	name
11661908	CV345252	single nucleotide variant	NM_005461.5(MAFB):c.-77C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000381249]\|not provided [RCV004694602]	uncertain significance	20	40688927	40688927	Human	1	name
11629177	CV349975	single nucleotide variant	NM_005461.5(MAFB):c.*30C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316781]\|not provided [RCV004703822]	likely benign\|uncertain significance	20	40687849	40687849	Human	1	name
28890858	CV886103	single nucleotide variant	NM_005461.5(MAFB):c.-76C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139173]	uncertain significance	20	40688926	40688926	Human	1	name
28890862	CV886104	single nucleotide variant	NM_005461.5(MAFB):c.-82T>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139174]	uncertain significance	20	40688932	40688932	Human	1	name
11619000	CV335418	duplication	NM_005461.5(MAFB):c.*929dup	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320136]	benign	20	40686949	40686950	Human	1	name
11660422	CV335423	single nucleotide variant	NM_005461.5(MAFB):c.*209A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000367021]	uncertain significance	20	40687670	40687670	Human	1	name
11618375	CV335431	single nucleotide variant	NM_005461.5(MAFB):c.*152G>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000313393]	benign\|likely benign	20	40687727	40687727	Human	1	name
11615819	CV335435	single nucleotide variant	NM_005461.5(MAFB):c.-138G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000289175]	uncertain significance	20	40688988	40688988	Human	1	name
11625440	CV335446	single nucleotide variant	NM_005461.5(MAFB):c.-310G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000398975]	benign\|likely benign	20	40689160	40689160	Human	1	name
11648333	CV345230	single nucleotide variant	NM_005461.5(MAFB):c.*976G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281411]	uncertain significance	20	40686903	40686903	Human	1	name
11661448	CV345231	deletion	NM_005461.5(MAFB):c.*929del	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000376716]	uncertain significance	20	40686950	40686950	Human	1	name
11657950	CV345233	single nucleotide variant	NM_005461.5(MAFB):c.*377G>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000345530]	uncertain significance	20	40687502	40687502	Human	1	name
11664557	CV345234	single nucleotide variant	NM_005461.5(MAFB):c.*309A>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407050]	uncertain significance	20	40687570	40687570	Human	1	name
11632389	CV345236	single nucleotide variant	NM_005461.5(MAFB):c.*155C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407061]\|not provided [RCV004717380]	benign\|likely benign	20	40687724	40687724	Human	1	name
11658688	CV345255	single nucleotide variant	NM_005461.5(MAFB):c.-229C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000351158]	uncertain significance	20	40689079	40689079	Human	1	name
11657507	CV349967	single nucleotide variant	NM_005461.5(MAFB):c.*795G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000341955]	uncertain significance	20	40687084	40687084	Human	1	name
11649543	CV349970	single nucleotide variant	NM_005461.5(MAFB):c.*410G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000288179]	uncertain significance	20	40687469	40687469	Human	1	name
11653360	CV349973	single nucleotide variant	NM_005461.5(MAFB):c.*229A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000310629]	uncertain significance	20	40687650	40687650	Human	1	name
11648891	CV350974	single nucleotide variant	NM_005461.5(MAFB):c.*881G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000284498]	uncertain significance	20	40686998	40686998	Human	1	name
11658063	CV350979	single nucleotide variant	NM_005461.5(MAFB):c.-171C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000346334]	uncertain significance	20	40689021	40689021	Human	1	name
11628021	CV350980	single nucleotide variant	NM_005461.5(MAFB):c.-206T>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000293944]\|not provided [RCV004703823]	likely benign	20	40689056	40689056	Human	1	name
11651181	CV350984	single nucleotide variant	NM_005461.5(MAFB):c.-338A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000297555]	uncertain significance	20	40689188	40689188	Human	1	name
28897680	CV886091	single nucleotide variant	NM_005461.5(MAFB):c.*791C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141674]	uncertain significance	20	40687088	40687088	Human	1	name
28897682	CV886092	single nucleotide variant	NM_005461.5(MAFB):c.*565C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141675]	uncertain significance	20	40687314	40687314	Human	1	name
28897685	CV886093	single nucleotide variant	NM_005461.5(MAFB):c.*415G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141676]	uncertain significance	20	40687464	40687464	Human	1	name
28897689	CV886094	single nucleotide variant	NM_005461.5(MAFB):c.*367G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141677]	uncertain significance	20	40687512	40687512	Human	1	name
28902239	CV886095	single nucleotide variant	NM_005461.5(MAFB):c.*175G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143499]	uncertain significance	20	40687704	40687704	Human	1	name
28898003	CV886105	single nucleotide variant	NM_005461.5(MAFB):c.-130C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141794]	uncertain significance	20	40688980	40688980	Human	1	name
28898007	CV886106	single nucleotide variant	NM_005461.5(MAFB):c.-211A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141795]	uncertain significance	20	40689061	40689061	Human	1	name
28898009	CV886107	single nucleotide variant	NM_005461.5(MAFB):c.-222G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141796]	uncertain significance	20	40689072	40689072	Human	1	name
28898012	CV886108	single nucleotide variant	NM_005461.5(MAFB):c.-225C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141797]	uncertain significance	20	40689075	40689075	Human	1	name
28902502	CV886109	single nucleotide variant	NM_005461.5(MAFB):c.-269G>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143599]	uncertain significance	20	40689119	40689119	Human	1	name
28902504	CV886110	single nucleotide variant	NM_005461.5(MAFB):c.-297G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143600]	uncertain significance	20	40689147	40689147	Human	1	name
11616215	CV335393	single nucleotide variant	NM_005461.5(MAFB):c.*2008T>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000292875]\|not provided [RCV004718531]	benign	20	40685871	40685871	Human	1	name
11625615	CV335394	single nucleotide variant	NM_005461.5(MAFB):c.*1737A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000401307]	benign\|likely benign	20	40686142	40686142	Human	1	name
11648413	CV335400	single nucleotide variant	NM_005461.5(MAFB):c.*1679C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281836]	uncertain significance	20	40686200	40686200	Human	1	name
11617777	CV335405	single nucleotide variant	NM_005461.5(MAFB):c.*1519C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000307525]	likely benign\|uncertain significance	20	40686360	40686360	Human	1	name
11618692	CV335408	single nucleotide variant	NM_005461.5(MAFB):c.*1210G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316762]	likely benign\|uncertain significance	20	40686669	40686669	Human	1	name
11623513	CV335416	single nucleotide variant	NM_005461.5(MAFB):c.*1019A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000373690]	benign\|likely benign	20	40686860	40686860	Human	1	name
11629793	CV345219	single nucleotide variant	NM_005461.5(MAFB):c.*1849C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000333805]\|not provided [RCV004717379]	benign	20	40686030	40686030	Human	1	name
11659748	CV345221	single nucleotide variant	NM_005461.5(MAFB):c.*1551G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000361043]	uncertain significance	20	40686328	40686328	Human	1	name
11627015	CV345223	single nucleotide variant	NM_005461.5(MAFB):c.*1314A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000274366]	benign\|likely benign	20	40686565	40686565	Human	1	name
11629708	CV345225	single nucleotide variant	NM_005461.5(MAFB):c.*1255C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000331819]	likely benign\|uncertain significance	20	40686624	40686624	Human	1	name
11656617	CV349954	single nucleotide variant	NM_005461.5(MAFB):c.*1751C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000335089]	uncertain significance	20	40686128	40686128	Human	1	name
11631964	CV349955	deletion	NM_005461.5(MAFB):c.*1592del	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393820]	benign	20	40686287	40686287	Human	1	name
11657144	CV349960	duplication	NM_005461.5(MAFB):c.*1592dup	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000339171]	uncertain significance	20	40686286	40686287	Human	1	name
11652266	CV349961	single nucleotide variant	NM_005461.5(MAFB):c.*1591T>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000304098]	uncertain significance	20	40686288	40686288	Human	1	name
11631938	CV349963	single nucleotide variant	NM_005461.5(MAFB):c.*1520C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393846]	likely benign	20	40686359	40686359	Human	1	name
11660136	CV349964	single nucleotide variant	NM_005461.5(MAFB):c.*1433A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000364500]	uncertain significance	20	40686446	40686446	Human	1	name
11631775	CV350969	single nucleotide variant	NM_005461.5(MAFB):c.*1803C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000388390]	uncertain significance	20	40686076	40686076	Human	1	name
11627350	CV350970	single nucleotide variant	NM_005461.5(MAFB):c.*1787T>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000280001]	uncertain significance	20	40686092	40686092	Human	1	name
11660766	CV350972	single nucleotide variant	NM_005461.5(MAFB):c.*1226C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370194]	uncertain significance	20	40686653	40686653	Human	1	name
28901980	CV886087	single nucleotide variant	NM_005461.5(MAFB):c.*1690G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143395]	benign	20	40686189	40686189	Human	1	name
28883085	CV886088	single nucleotide variant	NM_005461.5(MAFB):c.*1519C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136820]	uncertain significance	20	40686360	40686360	Human	1	name
28890513	CV886089	single nucleotide variant	NM_005461.5(MAFB):c.*1171A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139063]	uncertain significance	20	40686708	40686708	Human	1	name
28890515	CV886090	single nucleotide variant	NM_005461.5(MAFB):c.*1019A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139064]	uncertain significance	20	40686860	40686860	Human	1	name
11632151	CV345232	microsatellite	NM_005461.5(MAFB):c.*503TGTC[1]	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000399779]	likely benign	20	40687369	40687372	Human		name
8585164	CV119745	single nucleotide variant	NR_104663.1(MAFTRR):n.157-652A>G	Lung cancer [RCV000100265]	uncertain significance	16	79758367	79758367	Human		name
11631644	CV345253	deletion	NM_005461.5(MAFB):c.-204_-203del	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000384623]	likely benign	20	40689053	40689054	Human	1	name
11647656	CV335406	insertion	NM_005461.5(MAFB):c.1212_1213insGAGGA	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000277776]	uncertain significance	20	40686666	40686667	Human	1	name
11522845	CV244128	deletion	MAFB, 600-KB DEL	Duane syndrome type 3 [RCV000235069]	pathogenic				Human		name
12834416	CV362770	single nucleotide variant	NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	Acute myeloid leukemia [RCV000445302]\|Enchondromatosis [RCV002227473]\|Enchondromatosis [RCV002291276]\|Glioma susceptibility 1 [RCV003323531]\|Maffucci syndrome [RCV003458426]\|not provided [RCV000997650]	pathogenic\|likely pathogenic	2	208248389	208248389	Human	6	trait , alternate_id
152160975	CV1555227	single nucleotide variant	NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)	Inborn genetic diseases [RCV003015298]\|MAFB-related disorder [RCV003951051]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002499959]\|not provided [RCV002103788]	likely benign\|uncertain significance	20	40688557	40688557	Human	3	name , trait , alternate_id
152162389	CV1635736	single nucleotide variant	NM_005461.5(MAFB):c.423G>C (p.Pro141=)	MAFB-related disorder [RCV003896057]\|not provided [RCV002203662]	likely benign	20	40688428	40688428	Human	1	name , trait , alternate_id
156050593	CV1884394	single nucleotide variant	NM_005461.5(MAFB):c.910T>G (p.Ser304Ala)	MAFB-related disorder [RCV003953878]\|not provided [RCV003078858]	likely benign	20	40687941	40687941	Human	1	name , trait , alternate_id
156411449	CV1977260	single nucleotide variant	NM_005461.5(MAFB):c.6C>T (p.Ala2=)	MAFB-related disorder [RCV003896255]\|not provided [RCV002608255]	likely benign	20	40688845	40688845	Human	1	name , trait , alternate_id
243049575	CV2416887	microsatellite	NM_201589.4(MAFA):c.594CCA[7] (p.His206_His208del)	Islet cell adenomatosis [RCV005399270]\|MAFA-related disorder [RCV003919019]\|not specified [RCV003151559]	likely benign\|uncertain significance	8	143429784	143429792	Human		name , trait , alternate_id
401902027	CV2797565	single nucleotide variant	NM_005461.5(MAFB):c.188C>T (p.Pro63Leu)	MAFB-related disorder [RCV003418744]\|not provided [RCV003553914]	pathogenic	20	40688663	40688663	Human	1	name , trait , alternate_id
401918990	CV2800925	single nucleotide variant	NM_005461.5(MAFB):c.745C>G (p.Arg249Gly)	MAFB-related disorder [RCV003402125]	likely pathogenic	20	40688106	40688106	Human		name , trait , alternate_id
401920611	CV2804161	single nucleotide variant	NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)	Inborn genetic diseases [RCV005377366]\|MAFB-related disorder [RCV003392882]\|not provided [RCV003738456]\|not specified [RCV003402688]	benign\|likely benign\|uncertain significance	20	40688286	40688286	Human	2	name , trait , alternate_id
405210617	CV2966789	single nucleotide variant	NM_005461.5(MAFB):c.888C>G (p.Val296=)	MAFB-related disorder [RCV003909071]\|not provided [RCV003679340]	likely benign\|uncertain significance	20	40687963	40687963	Human	1	name , trait , alternate_id
405262336	CV3189246	single nucleotide variant	NM_005461.5(MAFB):c.11A>C (p.Glu4Ala)	MAFB-related disorder [RCV003896481]	uncertain significance	20	40688840	40688840	Human		name , trait , alternate_id
405284575	CV3196924	single nucleotide variant	NM_201589.4(MAFA):c.582T>C (p.His194=)	MAFA-related disorder [RCV003979776]	benign	8	143429825	143429825	Human		name , trait , alternate_id
405269255	CV3201543	single nucleotide variant	NM_005461.5(MAFB):c.337G>C (p.Gly113Arg)	MAFB-related disorder [RCV003899457]	uncertain significance	20	40688514	40688514	Human		name , trait , alternate_id
405267047	CV3202111	single nucleotide variant	NM_005461.5(MAFB):c.406C>T (p.His136Tyr)	MAFB-related disorder [RCV003911587]	uncertain significance	20	40688445	40688445	Human		name , trait , alternate_id
405260608	CV3204163	single nucleotide variant	NM_005461.5(MAFB):c.114C>A (p.Arg38=)	MAFB-related disorder [RCV003944027]	likely benign	20	40688737	40688737	Human		name , trait , alternate_id
405285932	CV3209839	single nucleotide variant	NM_005461.5(MAFB):c.246C>G (p.Leu82=)	MAFB-related disorder [RCV003959377]	likely benign	20	40688605	40688605	Human		name , trait , alternate_id
405294461	CV3211577	single nucleotide variant	NM_005461.5(MAFB):c.270C>T (p.Ser90=)	MAFB-related disorder [RCV003934402]	likely benign	20	40688581	40688581	Human		name , trait , alternate_id
405284306	CV3213648	single nucleotide variant	NM_201589.4(MAFA):c.822G>A (p.Lys274=)	MAFA-related disorder [RCV003922218]	benign	8	143429585	143429585	Human		name , trait , alternate_id
405278767	CV3220390	single nucleotide variant	NM_201589.4(MAFA):c.1039G>T (p.Gly347Cys)	MAFA-related disorder [RCV003976602]	benign	8	143429368	143429368	Human		name , trait , alternate_id
405279118	CV3220560	single nucleotide variant	NM_201589.4(MAFA):c.393C>T (p.Leu131=)	MAFA-related disorder [RCV003976734]	benign	8	143430014	143430014	Human		name , trait , alternate_id
405285955	CV3221639	microsatellite	NM_201589.4(MAFA):c.594CCA[8] (p.His207_His208del)	MAFA-related disorder [RCV003981345]	benign	8	143429784	143429789	Human		name , trait , alternate_id
11626569	CV345248	single nucleotide variant	NM_005461.5(MAFB):c.189G>A (p.Pro63=)	MAFB-related disorder [RCV003910315]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000266628]\|not provided [RCV002057735]\|not specified [RCV005238925]	likely benign\|uncertain significance	20	40688662	40688662	Human	1	name , trait , alternate_id
408367666	CV3512062	deletion	NM_201589.4(MAFA):c.582_602del (p.Ala197_His203del)	MAFA-related disorder [RCV004759118]	uncertain significance	8	143429805	143429825	Human		name , trait , alternate_id
408367852	CV3517479	single nucleotide variant	NM_201589.4(MAFA):c.867C>G (p.Leu289=)	MAFA-related disorder [RCV004759268]	likely benign	8	143429540	143429540	Human		name , trait , alternate_id
15140140	CV716974	single nucleotide variant	NM_005461.5(MAFB):c.714C>T (p.Arg238=)	MAFB-related disorder [RCV003916206]\|not provided [RCV000966088]	benign\|likely benign	20	40688137	40688137	Human	1	name , trait , alternate_id
15125863	CV757517	single nucleotide variant	NM_005461.5(MAFB):c.72C>T (p.Phe24=)	MAFB-related disorder [RCV003895586]\|not provided [RCV000919230]	likely benign	20	40688779	40688779	Human	1	name , trait , alternate_id
28883453	CV886098	single nucleotide variant	NM_005461.5(MAFB):c.393C>A (p.His131Gln)	MAFB-related disorder [RCV003433021]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136925]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002491409]\|not provided [RCV001856748]	benign\|uncertain significance	20	40688458	40688458	Human	2	name , trait , alternate_id
152978609	CV1671803	single nucleotide variant	NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)	Maffucci syndrome [RCV002227902]	likely pathogenic	12	47983723	47983723	Human	1	trait , alternate_id
155796639	CV1860826	single nucleotide variant	NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)	Maffucci syndrome [RCV002468426]	uncertain significance	9	21974778	21974778	Human	1	trait , alternate_id
155796645	CV1860828	single nucleotide variant	NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)	Maffucci syndrome [RCV002468428]	likely pathogenic	14	61741056	61741056	Human	1	trait , alternate_id
155796651	CV1860830	single nucleotide variant	NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)	Maffucci syndrome [RCV002468430]	likely pathogenic	14	61738206	61738206	Human	1	trait , alternate_id
405869353	CV3397745	single nucleotide variant	NM_005896.4(IDH1):c.943C>T (p.His315Tyr)	Maffucci syndrome [RCV004566496]	uncertain significance	2	208239911	208239911	Human	1	trait , alternate_id
12834479	CV363318	single nucleotide variant	NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)	Maffucci syndrome [RCV005251124]	likely pathogenic	15	90088607	90088607	Human	1	trait , alternate_id
598183731	CV3992270	single nucleotide variant	NM_032272.5(MAF1):c.84G>A (p.Arg28=)	not specified [RCV005372977]	likely benign	8	144105869	144105869	Human		name
156084837	CV1909178	single nucleotide variant	NM_005461.5(MAFB):c.138C>T (p.Cys46=)	not provided [RCV002591700]	likely benign	20	40688713	40688713	Human		name
156218089	CV1995559	single nucleotide variant	NM_005461.5(MAFB):c.117G>A (p.Ala39=)	not provided [RCV002667117]	likely benign	20	40688734	40688734	Human		name
156380050	CV1997836	single nucleotide variant	NM_005461.5(MAFB):c.174A>G (p.Thr58=)	not provided [RCV002653593]	likely benign	20	40688677	40688677	Human		name
155927707	CV2285228	single nucleotide variant	NM_032272.5(MAF1):c.25T>C (p.Phe9Leu)	not specified [RCV004145429]	uncertain significance	8	144105708	144105708	Human		name
401796622	CV2740793	single nucleotide variant	NM_005461.5(MAFB):c.11A>G (p.Glu4Gly)	Orofacial cleft 1 [RCV003321463]	likely pathogenic	20	40688840	40688840	Human	1	name
402469502	CV2931002	single nucleotide variant	NM_005461.5(MAFB):c.237G>A (p.Lys79=)	not provided [RCV003570121]	uncertain significance	20	40688614	40688614	Human		name
405018508	CV3135348	single nucleotide variant	NM_005461.5(MAFB):c.19A>G (p.Met7Val)	not provided [RCV003829619]	uncertain significance	20	40688832	40688832	Human		name
405651056	CV3281307	single nucleotide variant	NM_201589.4(MAFA):c.13C>G (p.Leu5Val)	not specified [RCV004413431]	uncertain significance	8	143430394	143430394	Human		name
405651084	CV3281321	single nucleotide variant	NM_002360.4(MAFK):c.14C>G (p.Pro5Arg)	not specified [RCV004413445]	uncertain significance	7	1539206	1539206	Human		name
597652018	CV3720761	single nucleotide variant	NM_005461.5(MAFB):c.22G>C (p.Gly8Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026948]	uncertain significance	20	40688829	40688829	Human	1	name
597691285	CV3720762	single nucleotide variant	NM_005461.5(MAFB):c.19A>C (p.Met7Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032536]	uncertain significance	20	40688832	40688832	Human	1	name
597962372	CV3753688	single nucleotide variant	NM_005461.5(MAFB):c.228C>T (p.Thr76=)	not provided [RCV005081992]	benign	20	40688623	40688623	Human		name
598183751	CV3992274	single nucleotide variant	NM_201589.4(MAFA):c.23G>A (p.Gly8Asp)	not specified [RCV005372980]	uncertain significance	8	143430384	143430384	Human		name
28890855	CV886102	single nucleotide variant	NM_005461.5(MAFB):c.153A>G (p.Pro51=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139172]	uncertain significance	20	40688698	40688698	Human	1	name
151848137	CV1441767	single nucleotide variant	NM_005461.5(MAFB):c.89A>C (p.Asp30Ala)	not provided [RCV001995607]	uncertain significance	20	40688762	40688762	Human		name
152059809	CV1536171	single nucleotide variant	NM_005461.5(MAFB):c.639C>T (p.Asp213=)	not provided [RCV002146641]	likely benign	20	40688212	40688212	Human		name
152144495	CV1543139	single nucleotide variant	NM_005461.5(MAFB):c.342G>T (p.Ser114=)	not provided [RCV002178513]	likely benign	20	40688509	40688509	Human		name
152104108	CV1625730	single nucleotide variant	NM_005461.5(MAFB):c.942C>T (p.Asp314=)	not provided [RCV002152166]	likely benign	20	40687909	40687909	Human		name
152073383	CV1657488	single nucleotide variant	NM_005461.5(MAFB):c.471G>T (p.Pro157=)	not provided [RCV002210274]	likely benign	20	40688380	40688380	Human		name
156321046	CV2025372	single nucleotide variant	NM_005461.5(MAFB):c.321G>A (p.Ala107=)	not provided [RCV002717091]	likely benign	20	40688530	40688530	Human		name
156012481	CV2122994	single nucleotide variant	NM_005461.5(MAFB):c.55G>C (p.Glu19Gln)	Inborn genetic diseases [RCV004642090]\|not provided [RCV002975721]	benign\|likely benign\|uncertain significance	20	40688796	40688796	Human	1	name
243049574	CV2416886	single nucleotide variant	NM_201589.4(MAFA):c.708G>A (p.Ser236=)	not specified [RCV003151558]	benign	8	143429699	143429699	Human		name
401753531	CV2720792	single nucleotide variant	NM_002360.4(MAFK):c.50C>T (p.Ala17Val)	not specified [RCV004329932]	uncertain significance	7	1539954	1539954	Human		name
401886292	CV2771154	single nucleotide variant	NM_012323.4(MAFF):c.78C>A (p.Asp26Glu)	not specified [RCV004346151]	uncertain significance	22	38214461	38214461	Human		name
401930418	CV2824409	single nucleotide variant	NM_005461.5(MAFB):c.570C>G (p.Pro190=)	not provided [RCV003440401]	likely benign	20	40688281	40688281	Human		name
405168078	CV2950987	single nucleotide variant	NM_005461.5(MAFB):c.585G>A (p.Thr195=)	not provided [RCV003675193]	uncertain significance	20	40688266	40688266	Human		name
405185081	CV3124240	single nucleotide variant	NM_005461.5(MAFB):c.528C>T (p.Ala176=)	not provided [RCV003820439]	likely benign	20	40688323	40688323	Human		name
405226223	CV3169261	single nucleotide variant	NM_005461.5(MAFB):c.708G>A (p.Val236=)	not provided [RCV003864284]	likely benign	20	40688143	40688143	Human		name
402465130	CV3177201	single nucleotide variant	NM_005461.5(MAFB):c.705G>A (p.Glu235=)	not provided [RCV003872832]	uncertain significance	20	40688146	40688146	Human		name
405251174	CV3181169	single nucleotide variant	NM_005461.5(MAFB):c.603G>C (p.Ala201=)	not provided [RCV003870170]	likely benign	20	40688248	40688248	Human		name
405651060	CV3281309	single nucleotide variant	NM_201589.4(MAFA):c.41G>A (p.Ser14Asn)	not specified [RCV004413433]	uncertain significance	8	143430366	143430366	Human		name
11630640	CV345246	single nucleotide variant	NM_005461.5(MAFB):c.745C>A (p.Arg249=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000355314]\|not provided [RCV000960989]	benign\|likely benign	20	40688106	40688106	Human	1	name
407573938	CV3498287	single nucleotide variant	NM_005461.5(MAFB):c.53T>C (p.Met18Thr)	not specified [RCV004702761]	uncertain significance	20	40688798	40688798	Human		name
11629313	CV350976	single nucleotide variant	NM_005461.5(MAFB):c.399C>T (p.His133=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320690]	uncertain significance	20	40688452	40688452	Human	1	name
596947025	CV3547087	single nucleotide variant	NM_002359.4(MAFG):c.333C>T (p.Tyr111=)	not provided [RCV004810894]	likely benign	17	81922761	81922761	Human		name
597623599	CV3694009	single nucleotide variant	NM_002360.4(MAFK):c.52G>A (p.Gly18Ser)	not specified [RCV004936616]	uncertain significance	7	1539956	1539956	Human		name
597691274	CV3720760	single nucleotide variant	NM_005461.5(MAFB):c.62T>C (p.Val21Ala)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032535]	uncertain significance	20	40688789	40688789	Human	1	name
597963888	CV3754225	single nucleotide variant	NM_005461.5(MAFB):c.459C>T (p.Asp153=)	not provided [RCV005082332]	uncertain significance	20	40688392	40688392	Human		name
597970688	CV3832584	single nucleotide variant	NM_005461.5(MAFB):c.648C>G (p.Leu216=)	not provided [RCV005166663]	benign	20	40688203	40688203	Human		name
598164627	CV3992272	single nucleotide variant	NM_032272.5(MAF1):c.61G>A (p.Gly21Arg)	not specified [RCV005369036]	uncertain significance	8	144105744	144105744	Human		name
13521058	CV495555	deletion	NM_005461.5(MAFB):c.135del (p.Cys46fs)	not provided [RCV000599139]	pathogenic	20	40688716	40688716	Human		name
28883447	CV886096	single nucleotide variant	NM_005461.5(MAFB):c.648C>T (p.Leu216=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136923]\|not provided [RCV002558299]	likely benign\|uncertain significance	20	40688203	40688203	Human	1	name
28883452	CV886097	single nucleotide variant	NM_005461.5(MAFB):c.420C>T (p.His140=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136924]	uncertain significance	20	40688431	40688431	Human	1	name
155800757	CV1860247	single nucleotide variant	NM_201589.4(MAFA):c.121T>G (p.Phe41Val)	Islet cell adenomatosis [RCV002466888]	uncertain significance	8	143430286	143430286	Human	1	name
156091058	CV1994333	single nucleotide variant	NM_005461.5(MAFB):c.289C>T (p.Pro97Ser)	not provided [RCV002639222]	uncertain significance	20	40688562	40688562	Human		name
156101808	CV2001124	single nucleotide variant	NM_005461.5(MAFB):c.227C>A (p.Thr76Asn)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005034354]\|not provided [RCV002639610]	uncertain significance	20	40688624	40688624	Human	1	name
155910645	CV2032939	single nucleotide variant	NM_005461.5(MAFB):c.173C>T (p.Thr58Ile)	not provided [RCV002750109]	uncertain significance	20	40688678	40688678	Human		name
156281420	CV2049976	single nucleotide variant	NM_005461.5(MAFB):c.121C>A (p.Arg41Ser)	not provided [RCV002807003]	uncertain significance	20	40688730	40688730	Human		name
156035498	CV2089371	single nucleotide variant	NM_005461.5(MAFB):c.187C>T (p.Pro63Ser)	not provided [RCV002867230]	pathogenic	20	40688664	40688664	Human		name
156045612	CV2139801	single nucleotide variant	NM_005461.5(MAFB):c.170C>A (p.Ser57Tyr)	not provided [RCV002999692]	uncertain significance	20	40688681	40688681	Human		name
155967204	CV2216811	single nucleotide variant	NM_201589.4(MAFA):c.292A>C (p.Ser98Arg)	not specified [RCV004083247]	uncertain significance	8	143430115	143430115	Human		name
155928918	CV2224460	single nucleotide variant	NM_032272.5(MAF1):c.233G>C (p.Gly78Ala)	not specified [RCV004098058]	uncertain significance	8	144106096	144106096	Human		name
11525556	CV226409	deletion	NM_005461.5(MAFB):c.803del (p.Asn268fs)	Duane retraction syndrome 3 with or without deafness [RCV000235061]\|Duane syndrome type 1 [RCV000240679]	pathogenic	20	40688048	40688048	Human	2	name
11525555	CV226410	deletion	NM_005461.5(MAFB):c.644del (p.Gln215fs)	Duane retraction syndrome 3 with or without deafness [RCV002051693]\|Duane syndrome type 1 [RCV000240779]	pathogenic	20	40688207	40688207	Human	2	name
11525557	CV226411	deletion	NM_005461.5(MAFB):c.440del (p.Gly147fs)	Duane retraction syndrome 3 with or without deafness [RCV002051692]\|Duane syndrome type 1 [RCV000240729]	pathogenic	20	40688411	40688411	Human	2	name
155973253	CV2271623	single nucleotide variant	NM_032272.5(MAF1):c.240G>C (p.Glu80Asp)	not specified [RCV004130487]	likely benign	8	144106103	144106103	Human		name
156239206	CV2285952	single nucleotide variant	NM_032272.5(MAF1):c.190A>C (p.Thr64Pro)	not specified [RCV004143870]	uncertain significance	8	144105975	144105975	Human		name
329846336	CV2524652	single nucleotide variant	NM_005461.5(MAFB):c.203C>T (p.Pro68Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV003227584]	likely pathogenic	20	40688648	40688648	Human	1	name
401753057	CV2674765	single nucleotide variant	NM_002359.4(MAFG):c.148G>A (p.Val50Ile)	not specified [RCV004294045]	likely benign	17	81922946	81922946	Human		name
401747041	CV2698769	single nucleotide variant	NM_201589.4(MAFA):c.205T>C (p.Cys69Arg)	not specified [RCV004301218]	uncertain significance	8	143430202	143430202	Human		name
401751075	CV2700169	single nucleotide variant	NM_002360.4(MAFK):c.133A>T (p.Thr45Ser)	not specified [RCV004310563]	uncertain significance	7	1540037	1540037	Human		name
401751078	CV2700170	single nucleotide variant	NM_002360.4(MAFK):c.148A>G (p.Thr50Ala)	not specified [RCV004310564]	uncertain significance	7	1540052	1540052	Human		name
401751082	CV2700171	single nucleotide variant	NM_002360.4(MAFK):c.149C>T (p.Thr50Ile)	not specified [RCV004310565]	uncertain significance	7	1540053	1540053	Human		name
401749271	CV2708530	single nucleotide variant	NM_002359.4(MAFG):c.205C>T (p.Arg69Cys)	not specified [RCV004313616]	uncertain significance	17	81922889	81922889	Human		name
401767873	CV2729977	single nucleotide variant	NM_201589.4(MAFA):c.259T>G (p.Ser87Ala)	not specified [RCV004332968]	likely benign	8	143430148	143430148	Human		name
401767875	CV2729978	single nucleotide variant	NM_201589.4(MAFA):c.262T>G (p.Ser88Ala)	not specified [RCV004332969]	likely benign	8	143430145	143430145	Human		name
401729031	CV2729979	single nucleotide variant	NM_201589.4(MAFA):c.275G>C (p.Gly92Ala)	not specified [RCV004332970]	uncertain significance	8	143430132	143430132	Human		name
401767878	CV2729980	single nucleotide variant	NM_201589.4(MAFA):c.289C>G (p.Pro97Ala)	not specified [RCV004332971]	uncertain significance	8	143430118	143430118	Human		name
401755318	CV2732753	single nucleotide variant	NM_201589.4(MAFA):c.131G>A (p.Arg44His)	not specified [RCV004332610]	uncertain significance	8	143430276	143430276	Human		name
401830520	CV2742925	single nucleotide variant	NM_201589.4(MAFA):c.170C>G (p.Thr57Arg)	Islet cell adenomatosis [RCV003325633]	pathogenic	8	143430237	143430237	Human	1	name
405132274	CV2905534	single nucleotide variant	NM_005461.5(MAFB):c.194G>T (p.Ser65Ile)	not provided [RCV003560140]	uncertain significance	20	40688657	40688657	Human		name
405651054	CV3281306	single nucleotide variant	NM_201589.4(MAFA):c.115G>A (p.Glu39Lys)	not specified [RCV004413430]	uncertain significance	8	143430292	143430292	Human		name
405651058	CV3281308	single nucleotide variant	NM_201589.4(MAFA):c.293G>A (p.Ser98Asn)	not specified [RCV004413432]	uncertain significance	8	143430114	143430114	Human		name
405867356	CV3394317	single nucleotide variant	NM_005461.5(MAFB):c.176C>G (p.Pro59Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV004566434]	likely pathogenic	20	40688675	40688675	Human	1	name
407468726	CV3449536	single nucleotide variant	NM_032272.5(MAF1):c.206C>T (p.Pro69Leu)	not specified [RCV004636386]	uncertain significance	8	144105991	144105991	Human		name
407468729	CV3449538	single nucleotide variant	NM_032272.5(MAF1):c.244G>A (p.Gly82Ser)	not specified [RCV004636387]	uncertain significance	8	144106107	144106107	Human		name
407484118	CV3449541	single nucleotide variant	NM_201589.4(MAFA):c.275G>A (p.Gly92Asp)	not specified [RCV004640474]	uncertain significance	8	143430132	143430132	Human		name
11631422	CV349978	single nucleotide variant	NM_005461.5(MAFB):c.253C>A (p.Leu85Met)	Inborn genetic diseases [RCV004984837]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000377699]\|not provided [RCV001865233]	benign\|likely benign\|uncertain significance	20	40688598	40688598	Human	2	name
596928777	CV3540555	single nucleotide variant	NM_005461.5(MAFB):c.176C>T (p.Pro59Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005038839]\|not provided [RCV004794882]	pathogenic\|likely pathogenic	20	40688675	40688675	Human	1	name
596943071	CV3542744	single nucleotide variant	NM_005461.5(MAFB):c.179T>A (p.Leu60His)	not provided [RCV004798328]	uncertain significance	20	40688672	40688672	Human		name
597646889	CV3693992	single nucleotide variant	NM_201589.4(MAFA):c.118C>G (p.Arg40Gly)	not specified [RCV004942556]	uncertain significance	8	143430289	143430289	Human		name
597712664	CV3693999	single nucleotide variant	NM_005461.5(MAFB):c.115G>A (p.Ala39Thr)	Inborn genetic diseases [RCV004990422]	uncertain significance	20	40688736	40688736	Human	1	name
597712676	CV3694002	single nucleotide variant	NM_005461.5(MAFB):c.223C>G (p.Pro75Ala)	Inborn genetic diseases [RCV004990424]\|not provided [RCV005061822]	uncertain significance	20	40688628	40688628	Human	1	name
597646966	CV3694008	single nucleotide variant	NM_002360.4(MAFK):c.206G>A (p.Arg69His)	not specified [RCV004942567]	uncertain significance	7	1540110	1540110	Human		name
597651987	CV3720755	single nucleotide variant	NM_005461.5(MAFB):c.252T>G (p.Asp84Glu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026945]	uncertain significance	20	40688599	40688599	Human	1	name
597651996	CV3720756	single nucleotide variant	NM_005461.5(MAFB):c.136T>G (p.Cys46Gly)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026946]	uncertain significance	20	40688715	40688715	Human	1	name
597691254	CV3720757	single nucleotide variant	NM_005461.5(MAFB):c.127G>A (p.Gly43Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032533]\|not provided [RCV005112792]	uncertain significance	20	40688724	40688724	Human	1	name
597652009	CV3720758	single nucleotide variant	NM_005461.5(MAFB):c.112C>G (p.Arg38Gly)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026947]	uncertain significance	20	40688739	40688739	Human	1	name
597691264	CV3720759	single nucleotide variant	NM_005461.5(MAFB):c.106C>G (p.Leu36Val)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032534]	uncertain significance	20	40688745	40688745	Human	1	name
597850497	CV3737242	single nucleotide variant	NM_005461.5(MAFB):c.136T>C (p.Cys46Arg)	not provided [RCV005066208]	uncertain significance	20	40688715	40688715	Human		name
597883349	CV3784237	single nucleotide variant	NM_005461.5(MAFB):c.226A>T (p.Thr76Ser)	not provided [RCV005124526]	uncertain significance	20	40688625	40688625	Human		name
598234468	CV3893601	single nucleotide variant	NM_005461.5(MAFB):c.284T>A (p.Met95Lys)	not provided [RCV005256334]	uncertain significance	20	40688567	40688567	Human		name
8568571	CV39725	single nucleotide variant	NM_005461.5(MAFB):c.184A>C (p.Thr62Pro)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023747]	pathogenic	20	40688667	40688667	Human	1	name
8568572	CV39726	single nucleotide variant	NM_005461.5(MAFB):c.208T>G (p.Ser70Ala)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023748]	pathogenic	20	40688643	40688643	Human	1	name
8568573	CV39727	single nucleotide variant	NM_005461.5(MAFB):c.209C>T (p.Ser70Leu)	Inborn genetic diseases [RCV001266648]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023749]\|not provided [RCV005089308]	pathogenic\|likely pathogenic	20	40688642	40688642	Human	2	name
8568574	CV39728	single nucleotide variant	NM_005461.5(MAFB):c.211C>T (p.Pro71Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023750]	pathogenic	20	40688640	40688640	Human	1	name
8568575	CV39729	single nucleotide variant	NM_005461.5(MAFB):c.212C>T (p.Pro71Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023751]	pathogenic	20	40688639	40688639	Human	1	name
8568576	CV39730	single nucleotide variant	NM_005461.5(MAFB):c.161C>T (p.Ser54Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023752]\|not provided [RCV000724296]	pathogenic	20	40688690	40688690	Human	1	name
598183763	CV3992278	single nucleotide variant	NM_002360.4(MAFK):c.152G>A (p.Arg51His)	not specified [RCV005372982]	uncertain significance	7	1540056	1540056	Human		name
13211465	CV426334	single nucleotide variant	NM_005461.5(MAFB):c.206C>T (p.Ser69Leu)	not provided [RCV000497479]	pathogenic\|likely pathogenic	20	40688645	40688645	Human		name
13517905	CV488127	single nucleotide variant	NM_201589.4(MAFA):c.191C>T (p.Ser64Phe)	Islet cell adenomatosis [RCV000590882]	pathogenic\|likely pathogenic	8	143430216	143430216	Human	1	name
13833408	CV584642	single nucleotide variant	NM_005461.5(MAFB):c.125C>T (p.Pro42Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002493309]\|not provided [RCV000728664]	uncertain significance	20	40688726	40688726	Human	1	name
14710332	CV672358	single nucleotide variant	NM_005461.5(MAFB):c.173C>G (p.Thr58Arg)	Carpal osteolysis [RCV000845260]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002290978]	likely pathogenic	20	40688678	40688678	Human	2	name
21073193	CV791983	single nucleotide variant	NM_005461.5(MAFB):c.185C>T (p.Thr62Ile)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000990302]	pathogenic	20	40688666	40688666	Human	1	name
21074992	CV798765	single nucleotide variant	NM_005461.5(MAFB):c.184A>G (p.Thr62Ala)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000995802]	pathogenic	20	40688667	40688667	Human	1	name
21404545	CV802231	single nucleotide variant	NM_005461.5(MAFB):c.197C>T (p.Ser66Phe)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001004935]	likely pathogenic	20	40688654	40688654	Human	1	name
28890852	CV886101	single nucleotide variant	NM_005461.5(MAFB):c.224C>A (p.Pro75Gln)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139171]	uncertain significance	20	40688627	40688627	Human	1	name
151354717	CV1327784	single nucleotide variant	NM_201589.4(MAFA):c.451C>T (p.His151Tyr)	not specified [RCV001819259]	benign	8	143429956	143429956	Human		name
151783782	CV1343855	single nucleotide variant	NM_005461.5(MAFB):c.890A>T (p.Lys297Met)	not provided [RCV002046405]	uncertain significance	20	40687961	40687961	Human		name
151866147	CV1354717	single nucleotide variant	NM_005461.5(MAFB):c.955C>T (p.Pro319Ser)	not provided [RCV001924626]	uncertain significance	20	40687896	40687896	Human		name
151844907	CV1363525	single nucleotide variant	NM_005461.5(MAFB):c.617G>A (p.Ser206Asn)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002479836]\|not provided [RCV002032271]	uncertain significance	20	40688234	40688234	Human	1	name
151749355	CV1380893	single nucleotide variant	NM_005461.5(MAFB):c.577C>T (p.His193Tyr)	Inborn genetic diseases [RCV004046759]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002486701]\|not provided [RCV002023213]	uncertain significance	20	40688274	40688274	Human	2	name
8689611	CV139538	single nucleotide variant	NM_000077.5(CDKN2A):c.318G>A (p.Val106=)	Familial melanoma [RCV001050185]\|Hereditary cancer-predisposing syndrome [RCV000160416]\|Maffucci syndrome [RCV002467577]\|Melanoma-pancreatic cancer syndrome [RCV000988150]\|not provided [RCV000590444]\|not specified [RCV000212401]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	21971041	21971041	Human	4	trait , alternate_id
151833445	CV1432480	single nucleotide variant	NM_005461.5(MAFB):c.457G>C (p.Asp153His)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002497943]\|not provided [RCV001993934]	uncertain significance	20	40688394	40688394	Human	1	name
152172210	CV1575761	single nucleotide variant	NM_005461.5(MAFB):c.542A>T (p.Gln181Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002500388]\|not provided [RCV002183765]	benign\|likely benign	20	40688309	40688309	Human	1	name
155800821	CV1860316	single nucleotide variant	NM_201589.4(MAFA):c.767A>C (p.Lys256Thr)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002466958]	uncertain significance	8	143429640	143429640	Human	1	name
155796626	CV1860821	single nucleotide variant	NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)	Maffucci syndrome [RCV002468421]\|not provided [RCV005232988]	likely pathogenic\|likely benign	14	61720494	61720494	Human	1	trait , alternate_id
155796633	CV1860824	single nucleotide variant	NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)	KDM4C-related disorder [RCV003916474]\|Maffucci syndrome [RCV002468424]	likely benign\|uncertain significance	9	6981115	6981115	Human	2	trait , alternate_id
156142444	CV1973665	single nucleotide variant	NM_005461.5(MAFB):c.865C>T (p.Arg289Cys)	not provided [RCV002593876]	uncertain significance	20	40687986	40687986	Human		name
156398376	CV1985456	single nucleotide variant	NM_005461.5(MAFB):c.834G>C (p.Glu278Asp)	not provided [RCV002635732]	uncertain significance	20	40688017	40688017	Human		name
156347499	CV1989198	single nucleotide variant	NM_005461.5(MAFB):c.389C>T (p.Ala130Val)	Inborn genetic diseases [RCV004632036]\|not provided [RCV002631752]	uncertain significance	20	40688462	40688462	Human	1	name
155968977	CV2066213	single nucleotide variant	NM_005461.5(MAFB):c.748G>T (p.Gly250Cys)	not provided [RCV002841988]	uncertain significance	20	40688103	40688103	Human		name
155981147	CV2078359	single nucleotide variant	NM_005461.5(MAFB):c.607G>A (p.Gly203Ser)	not provided [RCV002863775]	uncertain significance	20	40688244	40688244	Human		name
156100350	CV2132254	single nucleotide variant	NM_005461.5(MAFB):c.905C>T (p.Ala302Val)	not provided [RCV003002189]	likely benign	20	40687946	40687946	Human		name
156100418	CV2132256	single nucleotide variant	NM_005461.5(MAFB):c.886G>A (p.Val296Ile)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005028101]\|not provided [RCV003002191]	uncertain significance	20	40687965	40687965	Human	1	name
155912394	CV2153386	single nucleotide variant	NM_005461.5(MAFB):c.394C>T (p.His132Tyr)	not provided [RCV003012351]	uncertain significance	20	40688457	40688457	Human		name
10767153	CV221357	single nucleotide variant	NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	Chuvash polycythemia [RCV000204248]\|Chuvash polycythemia [RCV003468958]\|Chuvash polycythemia [RCV005031778]\|Hereditary cancer-predisposing syndrome [RCV000568942]\|Maffucci syndrome [RCV002467673]\|Von Hippel-Lindau syndrome [RCV000662950]\|not provided [RCV0015827 ... (more) 12]\|not specified [RCV005230083]	likely pathogenic\|likely benign\|uncertain significance	3	10149951	10149951	Human	6	trait , alternate_id
156333766	CV2214658	single nucleotide variant	NM_005461.5(MAFB):c.437C>T (p.Pro146Leu)	Inborn genetic diseases [RCV002673633]	uncertain significance	20	40688414	40688414	Human	1	name
156286278	CV2232937	single nucleotide variant	NM_005461.5(MAFB):c.578A>C (p.His193Pro)	Inborn genetic diseases [RCV002747432]	uncertain significance	20	40688273	40688273	Human	1	name
155975620	CV2235908	single nucleotide variant	NM_005461.5(MAFB):c.448G>A (p.Val150Met)	Inborn genetic diseases [RCV002777243]\|not provided [RCV003777738]	uncertain significance	20	40688403	40688403	Human	1	name
156137652	CV2236481	single nucleotide variant	NM_012323.4(MAFF):c.460C>T (p.Pro154Ser)	not specified [RCV004110485]	uncertain significance	22	38214843	38214843	Human		name
156057299	CV2239068	single nucleotide variant	NM_032272.5(MAF1):c.674G>A (p.Gly225Glu)	not specified [RCV004112074]	uncertain significance	8	144106888	144106888	Human		name
156117557	CV2278874	single nucleotide variant	NM_201589.4(MAFA):c.824G>A (p.Arg275Gln)	not specified [RCV004145577]	uncertain significance	8	143429583	143429583	Human		name
156006866	CV2288952	single nucleotide variant	NM_002360.4(MAFK):c.389A>G (p.Lys130Arg)	not specified [RCV004149917]	uncertain significance	7	1540293	1540293	Human		name
155940444	CV2294078	single nucleotide variant	NM_012323.4(MAFF):c.356G>T (p.Arg119Leu)	not specified [RCV004149455]	uncertain significance	22	38214739	38214739	Human		name
156106889	CV2303840	single nucleotide variant	NM_005461.5(MAFB):c.694A>G (p.Thr232Ala)	Inborn genetic diseases [RCV002888968]	uncertain significance	20	40688157	40688157	Human	1	name
156327523	CV2332115	single nucleotide variant	NM_201589.4(MAFA):c.747G>C (p.Lys249Asn)	not specified [RCV004189155]	uncertain significance	8	143429660	143429660	Human		name
155970060	CV2338022	single nucleotide variant	NM_012323.4(MAFF):c.370G>A (p.Ala124Thr)	not specified [RCV004186062]	uncertain significance	22	38214753	38214753	Human		name
155923883	CV2347577	single nucleotide variant	NM_032272.5(MAF1):c.709G>A (p.Gly237Ser)	not specified [RCV004200515]	uncertain significance	8	144106923	144106923	Human		name
156248437	CV2357141	single nucleotide variant	NM_201589.4(MAFA):c.398T>G (p.Leu133Arg)	not specified [RCV004206933]	uncertain significance	8	143430009	143430009	Human		name
156148800	CV2358115	single nucleotide variant	NM_032272.5(MAF1):c.736A>G (p.Met246Val)	not specified [RCV004211924]	uncertain significance	8	144106950	144106950	Human		name
155932434	CV2364392	single nucleotide variant	NM_201589.4(MAFA):c.841A>G (p.Ile281Val)	not specified [RCV004223604]	uncertain significance	8	143429566	143429566	Human		name
156111943	CV2387869	single nucleotide variant	NM_201589.4(MAFA):c.301C>A (p.Pro101Thr)	not specified [RCV004236423]	uncertain significance	8	143430106	143430106	Human		name
329385730	CV2432203	single nucleotide variant	NM_201589.4(MAFA):c.473C>A (p.Ala158Glu)	not specified [RCV004251135]	uncertain significance	8	143429934	143429934	Human		name
329378975	CV2443239	single nucleotide variant	NM_002359.4(MAFG):c.421G>A (p.Val141Ile)	not specified [RCV004260049]	uncertain significance	17	81922673	81922673	Human		name
329953789	CV2668659	single nucleotide variant	NM_201589.4(MAFA):c.796G>T (p.Gly266Cys)	Islet cell adenomatosis [RCV003230250]	benign	8	143429611	143429611	Human	1	name
401767474	CV2681675	single nucleotide variant	NM_201589.4(MAFA):c.697G>T (p.Val233Leu)	not specified [RCV004294228]	uncertain significance	8	143429710	143429710	Human		name
401771044	CV2686158	single nucleotide variant	NM_201589.4(MAFA):c.319A>G (p.Thr107Ala)	not specified [RCV004297162]	likely benign	8	143430088	143430088	Human		name
401769840	CV2693069	single nucleotide variant	NM_032272.5(MAF1):c.679G>A (p.Glu227Lys)	not specified [RCV004308613]	uncertain significance	8	144106893	144106893	Human		name
11636159	CV269443	single nucleotide variant	NM_005461.5(MAFB):c.362T>C (p.Leu121Pro)	not provided [RCV000263923]	uncertain significance	20	40688489	40688489	Human		name
401782674	CV2697155	single nucleotide variant	NM_012323.4(MAFF):c.456C>G (p.His152Gln)	not specified [RCV004302146]	uncertain significance	22	38214839	38214839	Human		name
401751072	CV2700168	single nucleotide variant	NM_012323.4(MAFF):c.385A>G (p.Thr129Ala)	not specified [RCV004310562]	likely benign	22	38214768	38214768	Human		name
401768806	CV2716736	single nucleotide variant	NM_005461.5(MAFB):c.494A>G (p.His165Arg)	Inborn genetic diseases [RCV003283311]	uncertain significance	20	40688357	40688357	Human	1	name
401765951	CV2717948	single nucleotide variant	NM_005461.5(MAFB):c.863C>T (p.Ala288Val)	Inborn genetic diseases [RCV003282413]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005029965]\|not provided [RCV003777064]	uncertain significance	20	40687988	40687988	Human	2	name
401782036	CV2719145	single nucleotide variant	NM_012323.4(MAFF):c.424T>C (p.Ser142Pro)	not specified [RCV004324811]	uncertain significance	22	38214807	38214807	Human		name
401729034	CV2729981	single nucleotide variant	NM_201589.4(MAFA):c.506C>A (p.Pro169Gln)	not specified [RCV004332972]	likely benign	8	143429901	143429901	Human		name
401964084	CV2843486	single nucleotide variant	NM_005461.5(MAFB):c.452C>T (p.Ala151Val)	not specified [RCV003479828]	uncertain significance	20	40688399	40688399	Human		name
402488070	CV2861850	single nucleotide variant	NM_005461.5(MAFB):c.383G>T (p.Arg128Leu)	not provided [RCV003544679]	benign	20	40688468	40688468	Human		name
405042738	CV2862985	single nucleotide variant	NM_005461.5(MAFB):c.866G>A (p.Arg289His)	not provided [RCV003579239]	uncertain significance	20	40687985	40687985	Human		name
405216435	CV2911421	single nucleotide variant	NM_005461.5(MAFB):c.400C>T (p.His134Tyr)	not provided [RCV003567843]	uncertain significance	20	40688451	40688451	Human		name
405189818	CV2968501	single nucleotide variant	NM_005461.5(MAFB):c.920G>C (p.Arg307Thr)	not provided [RCV003677101]	uncertain significance	20	40687931	40687931	Human		name
405214209	CV3078401	single nucleotide variant	NM_005461.5(MAFB):c.340T>C (p.Ser114Pro)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005037016]\|not provided [RCV003732420]	likely benign\|uncertain significance	20	40688511	40688511	Human	1	name
405166254	CV3153604	single nucleotide variant	NM_005461.5(MAFB):c.493C>T (p.His165Tyr)	not provided [RCV003841149]	uncertain significance	20	40688358	40688358	Human		name
405041458	CV3154023	single nucleotide variant	NM_005461.5(MAFB):c.613G>A (p.Gly205Ser)	not provided [RCV003848891]	uncertain significance	20	40688238	40688238	Human		name
405220015	CV3154348	single nucleotide variant	NM_005461.5(MAFB):c.405T>A (p.His135Gln)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005030321]\|not provided [RCV003847040]	uncertain significance	20	40688446	40688446	Human	1	name
405134381	CV3163894	single nucleotide variant	NM_005461.5(MAFB):c.511C>T (p.Pro171Ser)	not provided [RCV003854882]	uncertain significance	20	40688340	40688340	Human		name
405213763	CV3169915	single nucleotide variant	NM_005461.5(MAFB):c.436C>G (p.Pro146Ala)	not provided [RCV003862519]	benign\|uncertain significance	20	40688415	40688415	Human		name
405256190	CV3222052	single nucleotide variant	NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)	Brown syndrome [RCV003983800]	uncertain significance	20	40688030	40688030	Human	2	name
405651050	CV3281304	single nucleotide variant	NM_032272.5(MAF1):c.340C>G (p.Arg114Gly)	not specified [RCV004413428]	uncertain significance	8	144106203	144106203	Human		name
405651052	CV3281305	single nucleotide variant	NM_032272.5(MAF1):c.686T>A (p.Val229Glu)	not specified [RCV004413429]	likely benign	8	144106900	144106900	Human		name
405651062	CV3281310	single nucleotide variant	NM_201589.4(MAFA):c.521G>A (p.Gly174Asp)	not specified [RCV004413434]	uncertain significance	8	143429886	143429886	Human		name
405651063	CV3281311	single nucleotide variant	NM_201589.4(MAFA):c.653G>A (p.Gly218Asp)	not specified [RCV004413435]	uncertain significance	8	143429754	143429754	Human		name
405651065	CV3281312	single nucleotide variant	NM_201589.4(MAFA):c.776G>C (p.Arg259Pro)	not specified [RCV004413436]	uncertain significance	8	143429631	143429631	Human		name
405651069	CV3281314	single nucleotide variant	NM_201589.4(MAFA):c.971G>T (p.Gly324Val)	not specified [RCV004413438]	uncertain significance	8	143429436	143429436	Human		name
405651071	CV3281315	single nucleotide variant	NM_201589.4(MAFA):c.997C>T (p.Arg333Trp)	not specified [RCV004413439]	uncertain significance	8	143429410	143429410	Human		name
405651074	CV3281316	single nucleotide variant	NM_012323.4(MAFF):c.362T>C (p.Val121Ala)	not specified [RCV004413440]	uncertain significance	22	38214745	38214745	Human		name
405651076	CV3281317	single nucleotide variant	NM_012323.4(MAFF):c.379C>T (p.Pro127Ser)	not specified [RCV004413441]	uncertain significance	22	38214762	38214762	Human		name
405651078	CV3281318	single nucleotide variant	NM_002359.4(MAFG):c.367C>G (p.Arg123Gly)	not specified [RCV004413442]	uncertain significance	17	81922727	81922727	Human		name
405651079	CV3281319	single nucleotide variant	NM_002359.4(MAFG):c.403G>A (p.Ala135Thr)	not specified [RCV004413443]	uncertain significance	17	81922691	81922691	Human		name
405651082	CV3281320	single nucleotide variant	NM_002359.4(MAFG):c.418C>T (p.Leu140Phe)	not specified [RCV004413444]	uncertain significance	17	81922676	81922676	Human		name
405854445	CV3393922	single nucleotide variant	NM_005461.5(MAFB):c.781C>T (p.Gln261Ter)	not provided [RCV004547148]	likely pathogenic	20	40688070	40688070	Human		name
405866771	CV3401182	single nucleotide variant	NM_201589.4(MAFA):c.631G>A (p.Ala211Thr)	Islet cell adenomatosis [RCV004577299]	uncertain significance	8	143429776	143429776	Human	1	name
407484099	CV3449537	single nucleotide variant	NM_032272.5(MAF1):c.705C>G (p.Ser235Arg)	not specified [RCV004640471]	uncertain significance	8	144106919	144106919	Human		name
407484104	CV3449539	single nucleotide variant	NM_201589.4(MAFA):c.469C>T (p.Pro157Ser)	not specified [RCV004640472]	uncertain significance	8	143429938	143429938	Human		name
407484111	CV3449540	single nucleotide variant	NM_201589.4(MAFA):c.621C>G (p.His207Gln)	not specified [RCV004640473]	uncertain significance	8	143429786	143429786	Human		name
407484132	CV3449543	single nucleotide variant	NM_012323.4(MAFF):c.487T>A (p.Cys163Ser)	not specified [RCV004640476]	uncertain significance	22	38214870	38214870	Human		name
407484140	CV3449544	single nucleotide variant	NM_002359.4(MAFG):c.325T>G (p.Ser109Ala)	not specified [RCV004640477]	uncertain significance	17	81922769	81922769	Human		name
407468732	CV3449545	single nucleotide variant	NM_002360.4(MAFK):c.431A>G (p.Glu144Gly)	not specified [RCV004636388]	uncertain significance	7	1540335	1540335	Human		name
11645000	CV345247	single nucleotide variant	NM_005461.5(MAFB):c.525C>G (p.Ser175Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000262870]	uncertain significance	20	40688326	40688326	Human	1	name
597648010	CV3551559	single nucleotide variant	NM_201589.4(MAFA):c.413C>A (p.Ala138Glu)	Islet cell adenomatosis [RCV004819936]	uncertain significance	8	143429994	143429994	Human	1	name
597646862	CV3693988	single nucleotide variant	NM_032272.5(MAF1):c.721G>A (p.Glu241Lys)	not specified [RCV004942552]	uncertain significance	8	144106935	144106935	Human		name
597646868	CV3693989	single nucleotide variant	NM_032272.5(MAF1):c.638C>T (p.Pro213Leu)	not specified [RCV004942553]	uncertain significance	8	144106852	144106852	Human		name
597646875	CV3693990	single nucleotide variant	NM_201589.4(MAFA):c.545C>G (p.Ala182Gly)	not specified [RCV004942554]	uncertain significance	8	143429862	143429862	Human		name
597646898	CV3693993	single nucleotide variant	NM_201589.4(MAFA):c.652G>C (p.Gly218Arg)	not specified [RCV004942557]	uncertain significance	8	143429755	143429755	Human		name
597646906	CV3693994	single nucleotide variant	NM_201589.4(MAFA):c.382C>T (p.Pro128Ser)	not specified [RCV004942558]	uncertain significance	8	143430025	143430025	Human		name
597646913	CV3693995	single nucleotide variant	NM_201589.4(MAFA):c.653G>T (p.Gly218Val)	not specified [RCV004942559]	uncertain significance	8	143429754	143429754	Human		name
597646919	CV3693996	single nucleotide variant	NM_201589.4(MAFA):c.476C>T (p.Ala159Val)	not specified [RCV004942560]	uncertain significance	8	143429931	143429931	Human		name
597646926	CV3693997	single nucleotide variant	NM_201589.4(MAFA):c.593C>A (p.Ala198Asp)	not specified [RCV004942561]	uncertain significance	8	143429814	143429814	Human		name
597712657	CV3693998	single nucleotide variant	NM_005461.5(MAFB):c.671T>A (p.Leu224Gln)	Inborn genetic diseases [RCV004990421]	uncertain significance	20	40688180	40688180	Human	1	name
597712670	CV3694001	single nucleotide variant	NM_005461.5(MAFB):c.319G>A (p.Ala107Thr)	Inborn genetic diseases [RCV004990423]	uncertain significance	20	40688532	40688532	Human	1	name
597712685	CV3694003	single nucleotide variant	NM_005461.5(MAFB):c.341C>T (p.Ser114Leu)	Inborn genetic diseases [RCV004990425]	uncertain significance	20	40688510	40688510	Human	1	name
597646937	CV3694004	single nucleotide variant	NM_012323.4(MAFF):c.464A>G (p.Asp155Gly)	not specified [RCV004942563]	uncertain significance	22	38214847	38214847	Human		name
597646944	CV3694005	single nucleotide variant	NM_012323.4(MAFF):c.338C>T (p.Ala113Val)	not specified [RCV004942564]	uncertain significance	22	38214721	38214721	Human		name
597646951	CV3694006	single nucleotide variant	NM_002359.4(MAFG):c.406G>A (p.Gly136Ser)	not specified [RCV004942565]	uncertain significance	17	81922688	81922688	Human		name
597646959	CV3694007	single nucleotide variant	NM_002359.4(MAFG):c.482G>C (p.Arg161Pro)	not specified [RCV004942566]	uncertain significance	17	81922612	81922612	Human		name
597651920	CV3720744	single nucleotide variant	NM_005461.5(MAFB):c.970T>C (p.Ter324Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026938]	uncertain significance	20	40687881	40687881	Human	1	name
597691219	CV3720745	single nucleotide variant	NM_005461.5(MAFB):c.961T>C (p.Phe321Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032530]	uncertain significance	20	40687890	40687890	Human	1	name
597651930	CV3720747	single nucleotide variant	NM_005461.5(MAFB):c.865C>A (p.Arg289Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026939]	uncertain significance	20	40687986	40687986	Human	1	name
597651939	CV3720748	single nucleotide variant	NM_005461.5(MAFB):c.847G>C (p.Glu283Gln)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026940]	uncertain significance	20	40688004	40688004	Human	1	name
597651949	CV3720749	single nucleotide variant	NM_005461.5(MAFB):c.769T>A (p.Tyr257Asn)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026941]	uncertain significance	20	40688082	40688082	Human	1	name
597651957	CV3720750	single nucleotide variant	NM_005461.5(MAFB):c.539C>A (p.Ala180Glu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026942]	uncertain significance	20	40688312	40688312	Human	1	name
597651969	CV3720751	single nucleotide variant	NM_005461.5(MAFB):c.529G>T (p.Ala177Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026943]	uncertain significance	20	40688322	40688322	Human	1	name
597651978	CV3720752	single nucleotide variant	NM_005461.5(MAFB):c.445G>A (p.Gly149Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026944]	uncertain significance	20	40688406	40688406	Human	1	name
597691243	CV3720753	single nucleotide variant	NM_005461.5(MAFB):c.392A>C (p.His131Pro)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032532]	uncertain significance	20	40688459	40688459	Human	1	name
597929807	CV3742122	single nucleotide variant	NM_005461.5(MAFB):c.877G>A (p.Ala293Thr)	not provided [RCV005075754]	uncertain significance	20	40687974	40687974	Human		name
597951162	CV3798289	single nucleotide variant	NM_005461.5(MAFB):c.897G>T (p.Glu299Asp)	not provided [RCV005136069]	uncertain significance	20	40687954	40687954	Human		name
597872573	CV3805349	single nucleotide variant	NM_005461.5(MAFB):c.811A>T (p.Thr271Ser)	not provided [RCV005148627]	uncertain significance	20	40688040	40688040	Human		name
597937819	CV3807928	single nucleotide variant	NM_005461.5(MAFB):c.605G>A (p.Gly202Asp)	not provided [RCV005158307]	benign	20	40688246	40688246	Human		name
597937825	CV3807929	single nucleotide variant	NM_005461.5(MAFB):c.436C>A (p.Pro146Thr)	not provided [RCV005158308]	uncertain significance	20	40688415	40688415	Human		name
597961028	CV3812024	single nucleotide variant	NM_005461.5(MAFB):c.876C>A (p.Asp292Glu)	not provided [RCV005163677]	uncertain significance	20	40687975	40687975	Human		name
597958971	CV3814972	single nucleotide variant	NM_005461.5(MAFB):c.460G>A (p.Glu154Lys)	not provided [RCV005163098]	uncertain significance	20	40688391	40688391	Human		name
597958262	CV3849084	single nucleotide variant	NM_005461.5(MAFB):c.618C>A (p.Ser206Arg)	not provided [RCV005192085]	uncertain significance	20	40688233	40688233	Human		name
598183738	CV3992271	single nucleotide variant	NM_032272.5(MAF1):c.723G>T (p.Glu241Asp)	not specified [RCV005372978]	uncertain significance	8	144106937	144106937	Human		name
598183744	CV3992273	single nucleotide variant	NM_201589.4(MAFA):c.376C>G (p.Leu126Val)	not specified [RCV005372979]	uncertain significance	8	143430031	143430031	Human		name
598164634	CV3992275	single nucleotide variant	NM_201589.4(MAFA):c.928T>C (p.Tyr310His)	not specified [RCV005369037]	uncertain significance	8	143429479	143429479	Human		name
598164640	CV3992276	single nucleotide variant	NM_005461.5(MAFB):c.420C>A (p.His140Gln)	Inborn genetic diseases [RCV005369038]	uncertain significance	20	40688431	40688431	Human	1	name
598164643	CV3992279	single nucleotide variant	NM_002360.4(MAFK):c.406G>A (p.Val136Ile)	not specified [RCV005369039]	uncertain significance	7	1540310	1540310	Human		name
13831593	CV582091	single nucleotide variant	NM_005461.5(MAFB):c.629G>T (p.Arg210Leu)	not provided [RCV000722273]	uncertain significance	20	40688222	40688222	Human		name
38473960	CV794339	single nucleotide variant	NM_005461.5(MAFB):c.526G>A (p.Ala176Thr)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002481760]\|not provided [RCV001248840]	uncertain significance	20	40688325	40688325	Human	1	name
28883457	CV886099	single nucleotide variant	NM_005461.5(MAFB):c.368G>C (p.Ser123Thr)	Inborn genetic diseases [RCV003163295]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136926]\|not provided [RCV001856749]	likely benign\|uncertain significance	20	40688483	40688483	Human	2	name
28883461	CV886100	single nucleotide variant	NM_005461.5(MAFB):c.329C>A (p.Ala110Glu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136927]	uncertain significance	20	40688522	40688522	Human	1	name
126908732	CV969965	single nucleotide variant	NM_002359.4(MAFG):c.355C>T (p.Arg119Trp)	Hereditary breast ovarian cancer syndrome [RCV001374554]	uncertain significance	17	81922739	81922739	Human	1	name
8640253	CV99237	single nucleotide variant	NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	Chuvash polycythemia [RCV001082579]\|Chuvash polycythemia [RCV005394340]\|Hereditary cancer-predisposing syndrome [RCV000126300]\|Maffucci syndrome [RCV002467563]\|Von Hippel-Lindau syndrome [RCV000119213]\|not provided [RCV000224298]\|not specified [RCV000079211]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|no classifications from unflagged records	3	10141921	10141921	Human	6	trait , alternate_id
156032984	CV2376545	single nucleotide variant	NM_201589.4(MAFA):c.1053C>A (p.Phe351Leu)	not specified [RCV004220714]	uncertain significance	8	143429354	143429354	Human		name
151355867	CV1327050	microsatellite	NM_201589.4(MAFA):c.445GGCGCGCACCAC[1] (p.149GAHH[1])	not specified [RCV001822220]	likely benign	8	143429939	143429950	Human		name
329395303	CV2473082	indel	NM_005461.5(MAFB):c.581_618delinsGGGGAGAA (p.Ala194_Ser206delinsGlyGlyGlu)	not provided [RCV003219066]	uncertain significance	20	40688233	40688270	Human		name

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