Slc45a2 Variant Search Result - Rat Genome Database

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618 records found for search term Slc45a2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28900909	CV894091	single nucleotide variant	NM_016180.5(SLC45A2):c.*1G>A	Oculocutaneous albinism type 4 [RCV001156456]	uncertain significance	5	33944647	33944647	Human	1	name
28905016	CV894111	single nucleotide variant	NM_016180.5(SLC45A2):c.-7A>G	Oculocutaneous albinism type 4 [RCV001158237]	uncertain significance	5	33984590	33984590	Human	1	name
11657998	CV303721	single nucleotide variant	NM_016180.4(SLC45A2):c.*29C>G	Oculocutaneous albinism [RCV000345957]	uncertain significance	5	33944619	33944619	Human	1	name
28900907	CV894090	single nucleotide variant	NM_016180.5(SLC45A2):c.*24A>C	Oculocutaneous albinism type 4 [RCV001156455]\|not provided [RCV004711557]	likely benign	5	33944624	33944624	Human	1	name
28905020	CV894112	single nucleotide variant	NM_016180.5(SLC45A2):c.-12C>T	Oculocutaneous albinism type 4 [RCV001158238]	uncertain significance	5	33984595	33984595	Human	1	name
28905022	CV894113	single nucleotide variant	NM_016180.5(SLC45A2):c.-30G>T	Oculocutaneous albinism type 4 [RCV001158239]	uncertain significance	5	33984613	33984613	Human	1	name
150491431	CV1274144	single nucleotide variant	NM_016180.5(SLC45A2):c.888+8T>C	not provided [RCV001726614]\|not specified [RCV001701222]	benign\|likely benign	5	33963683	33963683	Human		name
152096072	CV1586797	single nucleotide variant	NM_016180.5(SLC45A2):c.889-7A>G	not provided [RCV002078366]	likely benign	5	33954511	33954511	Human		name
8558110	CV19537	single nucleotide variant	NM_016180.5(SLC45A2):c.563-1G>A	Oculocutaneous albinism type 4 [RCV000004756]	pathogenic	5	33964017	33964017	Human	1	name
156077602	CV2053563	single nucleotide variant	NM_016180.5(SLC45A2):c.562+2T>C	not provided [RCV002823750]	likely pathogenic	5	33982234	33982234	Human		name
156151553	CV2131785	single nucleotide variant	NM_016180.5(SLC45A2):c.386-7C>G	not provided [RCV002982672]	likely benign	5	33982419	33982419	Human		name
405087870	CV2862471	single nucleotide variant	NM_016180.5(SLC45A2):c.563-5T>C	not provided [RCV003549690]	likely benign	5	33964021	33964021	Human		name
405168718	CV2901051	single nucleotide variant	NM_016180.5(SLC45A2):c.563-7T>G	not provided [RCV003562897]	likely benign	5	33964023	33964023	Human		name
405203627	CV2915264	single nucleotide variant	NM_016180.5(SLC45A2):c.888+8T>G	not provided [RCV003566222]	likely benign	5	33963683	33963683	Human		name
405247681	CV2976773	single nucleotide variant	NM_016180.5(SLC45A2):c.562+8A>T	not provided [RCV003685722]	likely benign	5	33982228	33982228	Human		name
402493049	CV2981956	single nucleotide variant	NM_016180.5(SLC45A2):c.563-9G>C	not provided [RCV003713966]	likely benign	5	33964025	33964025	Human		name
405143137	CV3155406	single nucleotide variant	NM_016180.5(SLC45A2):c.889-6T>C	not provided [RCV003855644]	likely benign	5	33954510	33954510	Human		name
407429427	CV3413838	single nucleotide variant	NM_016180.5(SLC45A2):c.385+1G>A	Oculocutaneous albinism type 4 [RCV004595247]	likely pathogenic	5	33984198	33984198	Human	1	name
597832829	CV3762141	single nucleotide variant	NM_016180.5(SLC45A2):c.386-2A>G	Oculocutaneous albinism type 4 [RCV005087559]	likely pathogenic	5	33982414	33982414	Human	1	name
597967473	CV3794520	single nucleotide variant	NM_016180.5(SLC45A2):c.888+1G>C	not provided [RCV005140696]	pathogenic	5	33963690	33963690	Human		name
28880776	CV859425	single nucleotide variant	NM_016180.5(SLC45A2):c.386-1G>A	Oculocutaneous albinism type 4 [RCV003441148]\|not provided [RCV001090995]	pathogenic	5	33982413	33982413	Human	1	name
127312647	CV1115883	single nucleotide variant	NM_016180.5(SLC45A2):c.888+10C>G	not provided [RCV001457184]	likely benign	5	33963681	33963681	Human		name
127297088	CV1155051	single nucleotide variant	NM_016180.5(SLC45A2):c.563-19A>T	not provided [RCV001512726]	benign	5	33964035	33964035	Human		name
150483563	CV1222323	single nucleotide variant	NM_016180.5(SLC45A2):c.563-89A>C	not provided [RCV001617325]	benign	5	33964105	33964105	Human		name
150503587	CV1241835	single nucleotide variant	NM_016180.5(SLC45A2):c.386-51C>T	not provided [RCV001657427]	benign	5	33982463	33982463	Human		name
151836394	CV1471714	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+1G>C	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005032017]\|not provided [RCV001956221]	pathogenic\|likely pathogenic	5	33951553	33951553	Human	1	name
152174971	CV1536247	single nucleotide variant	NM_016180.5(SLC45A2):c.563-20T>A	not provided [RCV002163329]	likely benign	5	33964036	33964036	Human		name
152051772	CV1569351	single nucleotide variant	NM_016180.5(SLC45A2):c.889-14A>C	not provided [RCV002207612]	likely benign	5	33954518	33954518	Human		name
152072842	CV1574541	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-9C>G	not provided [RCV002192017]	likely benign	5	33951686	33951686	Human		name
152129072	CV1584247	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-6C>T	not provided [RCV002082619]	likely benign	5	33947380	33947380	Human		name
152156272	CV1585967	single nucleotide variant	NM_016180.5(SLC45A2):c.888+20T>A	not provided [RCV002140218]	likely benign	5	33963671	33963671	Human		name
152045052	CV1588707	single nucleotide variant	NM_016180.5(SLC45A2):c.563-11T>G	not provided [RCV002188737]	likely benign	5	33964027	33964027	Human		name
152175467	CV1614321	single nucleotide variant	NM_016180.5(SLC45A2):c.386-13A>G	not provided [RCV002163602]	likely benign	5	33982425	33982425	Human		name
152126630	CV1641953	single nucleotide variant	NM_016180.5(SLC45A2):c.563-17C>A	not provided [RCV002176258]	likely benign	5	33964033	33964033	Human		name
156362182	CV1900644	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+9T>C	not provided [RCV002581801]	likely benign	5	33951545	33951545	Human		name
156328450	CV1969771	single nucleotide variant	NM_016180.5(SLC45A2):c.385+12G>A	not provided [RCV002600657]	likely benign	5	33984187	33984187	Human		name
156239273	CV1973134	single nucleotide variant	NM_016180.5(SLC45A2):c.888+15T>C	not provided [RCV002597090]	likely benign	5	33963676	33963676	Human		name
156318395	CV2071198	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-9T>C	not provided [RCV002834541]	likely benign	5	33947383	33947383	Human		name
156124602	CV2104009	single nucleotide variant	NM_016180.5(SLC45A2):c.386-19A>G	not provided [RCV002914302]	likely benign	5	33982431	33982431	Human		name
156129794	CV2125084	single nucleotide variant	NM_016180.5(SLC45A2):c.562+20G>A	not provided [RCV002953834]	likely benign	5	33982216	33982216	Human		name
402477664	CV2853819	single nucleotide variant	NM_016180.5(SLC45A2):c.888+16T>G	not provided [RCV003543643]	likely benign	5	33963675	33963675	Human		name
405090652	CV2859389	single nucleotide variant	NM_016180.5(SLC45A2):c.385+18G>A	not provided [RCV003549877]	likely benign	5	33984181	33984181	Human		name
405044688	CV2859833	single nucleotide variant	NM_016180.5(SLC45A2):c.385+11T>C	not provided [RCV003579368]	likely benign	5	33984188	33984188	Human		name
402491665	CV2863064	single nucleotide variant	NM_016180.5(SLC45A2):c.562+13C>T	not provided [RCV003573074]	likely benign	5	33982223	33982223	Human		name
405229022	CV2894730	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+1G>A	not provided [RCV003555176]	pathogenic	5	33951553	33951553	Human		name
405136291	CV2906983	single nucleotide variant	NM_016180.5(SLC45A2):c.889-11T>A	not provided [RCV003560476]	likely benign	5	33954515	33954515	Human		name
405204488	CV2912497	single nucleotide variant	NM_016180.5(SLC45A2):c.889-18T>A	not provided [RCV003566323]	likely benign	5	33954522	33954522	Human		name
402470595	CV2927992	single nucleotide variant	NM_016180.5(SLC45A2):c.386-17G>A	not provided [RCV003570329]	likely benign	5	33982429	33982429	Human		name
405074236	CV2941313	single nucleotide variant	NM_016180.5(SLC45A2):c.563-13T>C	not provided [RCV003664167]	likely benign	5	33964029	33964029	Human		name
405082224	CV2941937	deletion	NM_016180.5(SLC45A2):c.888+20del	not provided [RCV003664700]	benign	5	33963671	33963671	Human		name
402486121	CV2945112	single nucleotide variant	NM_016180.5(SLC45A2):c.1032+8A>C	not provided [RCV003660089]	likely benign	5	33954353	33954353	Human		name
405150798	CV2957030	deletion	NM_016180.5(SLC45A2):c.386-19del	not provided [RCV003670044]	likely benign	5	33982431	33982431	Human		name
405127483	CV2958497	single nucleotide variant	NM_016180.5(SLC45A2):c.888+12A>G	not provided [RCV003667984]	likely benign	5	33963679	33963679	Human		name
405204940	CV2990713	single nucleotide variant	NM_016180.5(SLC45A2):c.889-15C>G	not provided [RCV003678611]	likely benign	5	33954519	33954519	Human		name
11654517	CV299309	single nucleotide variant	NM_016180.5(SLC45A2):c.1032+9C>T	Oculocutaneous albinism type 4 [RCV000318363]\|not provided [RCV000961595]	benign\|likely benign\|uncertain significance	5	33954352	33954352	Human	1	name
405120639	CV3027181	single nucleotide variant	NM_016180.5(SLC45A2):c.889-18T>C	not provided [RCV003700723]	likely benign	5	33954522	33954522	Human		name
11647378	CV303757	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+7C>T	Oculocutaneous albinism type 4 [RCV000276234]\|not provided [RCV001861254]	likely benign\|uncertain significance	5	33951547	33951547	Human	1	name
405209506	CV3117264	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-6T>C	not provided [RCV003823051]	likely benign	5	33951683	33951683	Human		name
405235476	CV3168543	single nucleotide variant	NM_016180.5(SLC45A2):c.889-12G>A	not provided [RCV003866017]	likely benign	5	33954516	33954516	Human		name
597834489	CV3739509	single nucleotide variant	NM_016180.5(SLC45A2):c.386-18T>C	not provided [RCV005063728]	likely benign	5	33982430	33982430	Human		name
597830496	CV3743041	single nucleotide variant	NM_016180.5(SLC45A2):c.385+20T>C	not provided [RCV005062049]	likely benign	5	33984179	33984179	Human		name
13213431	CV428413	single nucleotide variant	NM_016180.5(SLC45A2):c.1368+1G>T	Oculocutaneous albinism type 4 [RCV000500008]	pathogenic	5	33947162	33947162	Human	1	name
28891081	CV896090	single nucleotide variant	NM_016180.5(SLC45A2):c.888+14A>G	Oculocutaneous albinism type 4 [RCV001152651]\|not provided [RCV002070856]	likely benign\|uncertain significance	5	33963677	33963677	Human	1	name
150506168	CV1213711	single nucleotide variant	NM_016180.5(SLC45A2):c.563-231A>G	not provided [RCV001595967]	benign	5	33964247	33964247	Human		name
150435591	CV1221682	single nucleotide variant	NM_016180.5(SLC45A2):c.889-271C>T	not provided [RCV001609370]	benign	5	33954775	33954775	Human		name
150487443	CV1251524	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-65G>T	not provided [RCV001674195]	benign	5	33947439	33947439	Human		name
150447382	CV1261811	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-44C>A	not provided [RCV001680195]	benign	5	33951721	33951721	Human		name
150479862	CV1273540	single nucleotide variant	NM_016180.5(SLC45A2):c.563-120T>C	not provided [RCV001696744]	benign	5	33964136	33964136	Human		name
152121840	CV1547646	single nucleotide variant	NM_016180.5(SLC45A2):c.1369-12C>T	not provided [RCV002081659]	likely benign	5	33944884	33944884	Human		name
152169191	CV1614115	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-18C>A	not provided [RCV002161361]	likely benign	5	33951695	33951695	Human		name
152140644	CV1618464	single nucleotide variant	NM_016180.5(SLC45A2):c.1032+10G>A	not provided [RCV002156727]	likely benign	5	33954351	33954351	Human		name
152039659	CV1644442	single nucleotide variant	NM_016180.5(SLC45A2):c.1369-13G>A	not provided [RCV002165495]	likely benign	5	33944885	33944885	Human		name
152166419	CV1661281	single nucleotide variant	NM_016180.5(SLC45A2):c.1368+14G>C	not provided [RCV002124222]	likely benign	5	33947149	33947149	Human		name
152081147	CV1663756	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-11C>A	not provided [RCV002149326]	likely benign	5	33951688	33951688	Human		name
155944784	CV2072522	single nucleotide variant	NM_016180.5(SLC45A2):c.1032+12G>A	not provided [RCV002862001]	likely benign	5	33954349	33954349	Human		name
155913402	CV2081532	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-12T>C	not provided [RCV002858653]	likely benign	5	33947386	33947386	Human		name
11550180	CV251944	single nucleotide variant	NM_016180.5(SLC45A2):c.1369-18T>C	not provided [RCV002519931]\|not specified [RCV000251403]	likely benign	5	33944890	33944890	Human		name
11546583	CV251945	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-10C>T	Oculocutaneous albinism type 4 [RCV000370776]\|not provided [RCV002055053]\|not specified [RCV000246650]	likely benign\|uncertain significance	5	33947384	33947384	Human	1	name
402474900	CV2915997	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-14A>G	not provided [RCV003571260]	likely benign	5	33951691	33951691	Human		name
405064517	CV2927372	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-12T>A	not provided [RCV003580719]	likely benign	5	33951689	33951689	Human		name
405242093	CV2971001	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-18C>T	not provided [RCV003684272]	likely benign	5	33947392	33947392	Human		name
405212448	CV2974318	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-10T>C	not provided [RCV003679486]	likely benign	5	33951687	33951687	Human		name
402486035	CV3002196	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+12T>A	not provided [RCV003686992]	likely benign	5	33951542	33951542	Human		name
402522461	CV3011240	single nucleotide variant	NM_016180.5(SLC45A2):c.1032+17T>C	not provided [RCV003716480]	likely benign	5	33954344	33954344	Human		name
405075892	CV3031642	single nucleotide variant	NM_016180.5(SLC45A2):c.1032+10G>T	not provided [RCV003698593]	likely benign	5	33954351	33954351	Human		name
405220706	CV3032197	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+19T>G	not provided [RCV003709927]	likely benign	5	33951535	33951535	Human		name
402513335	CV3042708	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-19C>G	not provided [RCV003715754]	likely benign	5	33951696	33951696	Human		name
405169509	CV3149930	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+16T>C	not provided [RCV003841401]	likely benign	5	33951538	33951538	Human		name
405176284	CV3152330	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-10C>A	not provided [RCV003858285]	likely benign	5	33947384	33947384	Human		name
597860688	CV3770129	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-20G>A	not provided [RCV005105981]	likely benign	5	33951697	33951697	Human		name
597877115	CV3776101	single nucleotide variant	NM_016180.5(SLC45A2):c.1368+11A>G	not provided [RCV005123629]	likely benign	5	33947152	33947152	Human		name
597970590	CV3832516	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-18C>T	not provided [RCV005166595]	likely benign	5	33951695	33951695	Human		name
150511253	CV1212684	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+108T>C	not provided [RCV001597915]	benign	5	33951446	33951446	Human	2	name
150511253	CV1212684	single nucleotide variant	NM_016180.5(SLC45A2):c.1156+108T>C	not provided [RCV001597915]	benign	5	33951446	33951447	Human	2	name
150494087	CV1238797	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-279T>G	not provided [RCV001655341]	benign	5	33951956	33951956	Human		name
150457358	CV1260127	single nucleotide variant	NM_016180.5(SLC45A2):c.1033-324G>A	not provided [RCV001681607]	benign	5	33952001	33952001	Human	1	name
150475190	CV1271157	single nucleotide variant	NM_016180.5(SLC45A2):c.1368+100G>C	not provided [RCV001695980]	benign	5	33947063	33947063	Human		name
596942069	CV3397735	single nucleotide variant	NM_016180.5(SLC45A2):c.1157-765C>G	Oculocutaneous albinism type 4 [RCV004798071]	pathogenic	5	33948139	33948139	Human	1	name
150514904	CV1228668	microsatellite	NM_016180.5(SLC45A2):c.888+50GTT[4]	not provided [RCV001638656]	benign	5	33963627	33963629	Human		name
155922797	CV1991430	microsatellite	NM_016180.5(SLC45A2):c.1033-11CT[2]	not provided [RCV002614633]	likely benign	5	33951683	33951684	Human		name
402520403	CV3002520	microsatellite	NM_016180.5(SLC45A2):c.1156+10TC[2]	not provided [RCV003690252]	likely benign	5	33951537	33951540	Human		name
152153086	CV1577701	duplication	NM_016180.5(SLC45A2):c.889-9_889-8dup	not provided [RCV002122033]	likely benign	5	33954511	33954512	Human		name
152129708	CV1583942	single nucleotide variant	NM_016180.5(SLC45A2):c.9C>T (p.Ser3=)	not provided [RCV002199159]	likely benign	5	33984575	33984575	Human		name
405041837	CV3154053	single nucleotide variant	NM_016180.5(SLC45A2):c.18G>A (p.Gly6=)	not provided [RCV003848921]	likely benign	5	33984566	33984566	Human		name
152057200	CV1523157	single nucleotide variant	NM_016180.5(SLC45A2):c.69C>T (p.Asp23=)	not provided [RCV002167586]	likely benign	5	33984515	33984515	Human		name
152029128	CV1568148	single nucleotide variant	NM_016180.5(SLC45A2):c.36C>T (p.Ile12=)	not provided [RCV002105480]	likely benign	5	33984548	33984548	Human		name
156069482	CV1952595	single nucleotide variant	NM_016180.5(SLC45A2):c.3G>A (p.Met1Ile)	not provided [RCV002569561]	pathogenic\|likely pathogenic	5	33984581	33984581	Human		name
156282624	CV1968013	single nucleotide variant	NM_016180.5(SLC45A2):c.72T>C (p.Ser24=)	not provided [RCV002598446]	likely benign	5	33984512	33984512	Human		name
156057445	CV2064947	microsatellite	NM_016180.5(SLC45A2):c.889-21_889-20del	not provided [RCV002846646]	likely benign	5	33954524	33954525	Human		name
155910567	CV2141556	single nucleotide variant	NM_016180.5(SLC45A2):c.2T>C (p.Met1Thr)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005034541]\|not provided [RCV002968016]	pathogenic\|likely pathogenic\|uncertain significance	5	33984582	33984582	Human	1	name
402477120	CV2857328	single nucleotide variant	NM_016180.5(SLC45A2):c.2T>G (p.Met1Arg)	not provided [RCV003543481]	likely pathogenic	5	33984582	33984582	Human		name
405195680	CV2868591	single nucleotide variant	NM_016180.5(SLC45A2):c.60C>T (p.Gly20=)	not provided [RCV003550721]	likely benign	5	33984524	33984524	Human		name
402477214	CV2917179	single nucleotide variant	NM_016180.5(SLC45A2):c.87A>G (p.Lys29=)	not provided [RCV003571573]	likely benign	5	33984497	33984497	Human		name
405077600	CV3008193	single nucleotide variant	NM_016180.5(SLC45A2):c.93C>A (p.Pro31=)	not provided [RCV003716884]	likely benign	5	33984491	33984491	Human		name
404996821	CV3123819	single nucleotide variant	NM_016180.5(SLC45A2):c.63C>T (p.Pro21=)	not provided [RCV003827726]	likely benign	5	33984521	33984521	Human		name
405022451	CV3139326	deletion	NM_016180.5(SLC45A2):c.385+11_385+24del	not provided [RCV003829969]	likely benign	5	33984175	33984188	Human		name
405210729	CV3158982	deletion	NM_016180.5(SLC45A2):c.563-20_563-19del	not provided [RCV003862103]	likely benign	5	33964035	33964036	Human		name
597876960	CV3776076	single nucleotide variant	NM_016180.5(SLC45A2):c.2T>A (p.Met1Lys)	not provided [RCV005123604]	likely pathogenic	5	33984582	33984582	Human		name
151759133	CV1349938	single nucleotide variant	NM_016180.5(SLC45A2):c.13A>G (p.Ser5Gly)	not provided [RCV001987059]	uncertain significance	5	33984571	33984571	Human		name
152142228	CV1538185	single nucleotide variant	NM_016180.5(SLC45A2):c.171C>T (p.Thr57=)	not provided [RCV002219524]	likely benign	5	33984413	33984413	Human		name
152097795	CV1542322	single nucleotide variant	NM_016180.5(SLC45A2):c.270G>C (p.Ser90=)	not provided [RCV002195150]	likely benign	5	33984314	33984314	Human		name
152071292	CV1549078	single nucleotide variant	NM_016180.5(SLC45A2):c.231C>T (p.Ser77=)	not provided [RCV002091622]	likely benign	5	33984353	33984353	Human		name
152044580	CV1588607	single nucleotide variant	NM_016180.5(SLC45A2):c.162G>A (p.Ala54=)	not provided [RCV002188683]	likely benign	5	33984422	33984422	Human		name
152161966	CV1606245	single nucleotide variant	NM_016180.5(SLC45A2):c.156G>A (p.Glu52=)	not provided [RCV002181089]	likely benign	5	33984428	33984428	Human		name
8558117	CV19544	single nucleotide variant	NM_016180.5(SLC45A2):c.1122= (p.Leu374=)	Malignant melanoma of skin [RCV000022392]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV000004763]\|not provided [RCV000948184]	pathogenic\|association\|benign\|protective	5	33951588	33951588	Human	3	name
156211555	CV1955782	single nucleotide variant	NM_016180.5(SLC45A2):c.273C>G (p.Ala91=)	not provided [RCV002575173]	likely benign	5	33984311	33984311	Human		name
156241292	CV1973216	single nucleotide variant	NM_016180.5(SLC45A2):c.247C>T (p.Leu83=)	not provided [RCV002597154]	likely benign	5	33984337	33984337	Human		name
156352648	CV2118758	single nucleotide variant	NM_016180.5(SLC45A2):c.183C>G (p.Leu61=)	not provided [RCV002966414]	likely benign	5	33984401	33984401	Human		name
405018617	CV2866073	single nucleotide variant	NM_016180.5(SLC45A2):c.162G>C (p.Ala54=)	not provided [RCV003577392]	likely benign	5	33984422	33984422	Human		name
405169667	CV2911847	single nucleotide variant	NM_016180.5(SLC45A2):c.285C>T (p.Cys95=)	not provided [RCV003563018]	likely benign	5	33984299	33984299	Human		name
405013054	CV2930161	single nucleotide variant	NM_016180.5(SLC45A2):c.129C>T (p.Phe43=)	not provided [RCV003576902]	likely benign	5	33984455	33984455	Human		name
402508098	CV2941764	single nucleotide variant	NM_016180.5(SLC45A2):c.204C>T (p.Ser68=)	not provided [RCV003662273]	likely benign	5	33984380	33984380	Human		name
405177371	CV2952080	single nucleotide variant	NM_016180.5(SLC45A2):c.147C>T (p.Tyr49=)	not provided [RCV003675950]	likely benign	5	33984437	33984437	Human		name
405128831	CV2953446	single nucleotide variant	NM_016180.5(SLC45A2):c.252G>C (p.Leu84=)	not provided [RCV003672223]	likely benign	5	33984332	33984332	Human		name
405166809	CV2954724	single nucleotide variant	NM_016180.5(SLC45A2):c.264C>T (p.Val88=)	not provided [RCV003675099]	likely benign	5	33984320	33984320	Human		name
405236890	CV2973571	single nucleotide variant	NM_016180.5(SLC45A2):c.258C>T (p.Pro86=)	not provided [RCV003683228]	likely benign	5	33984326	33984326	Human		name
402491794	CV2981129	single nucleotide variant	NM_016180.5(SLC45A2):c.195G>T (p.Leu65=)	not provided [RCV003713847]	likely benign	5	33984389	33984389	Human		name
405230514	CV2987497	deletion	NM_016180.5(SLC45A2):c.74del (p.Val25fs)	not provided [RCV003711441]	pathogenic	5	33984510	33984510	Human		name
402500759	CV3010422	single nucleotide variant	NM_016180.5(SLC45A2):c.186C>T (p.Ser62=)	not provided [RCV003688465]	likely benign	5	33984398	33984398	Human		name
405174659	CV3023484	single nucleotide variant	NM_016180.5(SLC45A2):c.240G>T (p.Leu80=)	not provided [RCV003704988]	likely benign	5	33984344	33984344	Human		name
405177247	CV3031119	single nucleotide variant	NM_016180.5(SLC45A2):c.270G>A (p.Ser90=)	not provided [RCV003705205]	likely benign	5	33984314	33984314	Human		name
405157674	CV3065131	single nucleotide variant	NM_016180.5(SLC45A2):c.219G>A (p.Val73=)	not provided [RCV003726875]	likely benign	5	33984365	33984365	Human		name
405181313	CV3147551	single nucleotide variant	NM_016180.5(SLC45A2):c.249G>A (p.Leu83=)	not provided [RCV003842453]	likely benign	5	33984335	33984335	Human		name
597950369	CV3759682	single nucleotide variant	NM_016180.5(SLC45A2):c.282C>T (p.His94=)	not provided [RCV005079282]	likely benign	5	33984302	33984302	Human		name
597943822	CV3847771	single nucleotide variant	NM_016180.5(SLC45A2):c.261G>T (p.Val87=)	not provided [RCV005188499]	likely benign	5	33984323	33984323	Human		name
15099091	CV765103	single nucleotide variant	NM_016180.5(SLC45A2):c.264C>G (p.Val88=)	Oculocutaneous albinism type 4 [RCV001154787]\|not provided [RCV000936419]	likely benign\|uncertain significance	5	33984320	33984320	Human	1	name
28896789	CV894108	single nucleotide variant	NM_016180.5(SLC45A2):c.178C>T (p.Leu60=)	Oculocutaneous albinism type 4 [RCV001154788]	uncertain significance	5	33984406	33984406	Human	1	name
28905012	CV894110	single nucleotide variant	NM_016180.5(SLC45A2):c.141C>T (p.Phe47=)	Oculocutaneous albinism type 4 [RCV001158236]	uncertain significance	5	33984443	33984443	Human	1	name
126770994	CV1006122	single nucleotide variant	NM_016180.5(SLC45A2):c.85A>G (p.Lys29Glu)	not provided [RCV001322896]	uncertain significance	5	33984499	33984499	Human		name
127248578	CV1094353	single nucleotide variant	NM_016180.5(SLC45A2):c.447C>T (p.Val149=)	not provided [RCV001424954]	likely benign	5	33982351	33982351	Human		name
150466590	CV1240434	deletion	NM_016180.5(SLC45A2):c.888+226_888+227del	not provided [RCV001650195]	benign	5	33963464	33963465	Human		name
151820801	CV1338295	single nucleotide variant	NM_016180.5(SLC45A2):c.46C>G (p.Leu16Val)	not provided [RCV001900862]	uncertain significance	5	33984538	33984538	Human		name
151863094	CV1338864	single nucleotide variant	NM_016180.5(SLC45A2):c.61C>T (p.Pro21Ser)	not provided [RCV001997390]	uncertain significance	5	33984523	33984523	Human		name
151880854	CV1384738	single nucleotide variant	NM_016180.5(SLC45A2):c.53A>T (p.Asp18Val)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005031966]\|not provided [RCV001982521]	uncertain significance	5	33984531	33984531	Human	1	name
151667618	CV1384975	single nucleotide variant	NM_016180.5(SLC45A2):c.86A>C (p.Lys29Thr)	not provided [RCV001982637]	uncertain significance	5	33984498	33984498	Human		name
151781775	CV1439182	single nucleotide variant	NM_016180.5(SLC45A2):c.44C>T (p.Ser15Phe)	not provided [RCV002009807]	uncertain significance	5	33984540	33984540	Human		name
151825203	CV1447018	single nucleotide variant	NM_016180.5(SLC45A2):c.672G>A (p.Leu224=)	not provided [RCV001869999]	likely benign\|uncertain significance	5	33963907	33963907	Human		name
151727201	CV1482404	single nucleotide variant	NM_016180.5(SLC45A2):c.73G>C (p.Val25Leu)	not provided [RCV002020926]	uncertain significance	5	33984511	33984511	Human		name
152115588	CV1537596	single nucleotide variant	NM_016180.5(SLC45A2):c.994C>T (p.Leu332=)	not provided [RCV002135055]	likely benign	5	33954399	33954399	Human		name
152058523	CV1543772	single nucleotide variant	NM_016180.5(SLC45A2):c.798C>T (p.Tyr266=)	not provided [RCV002128067]	likely benign	5	33963781	33963781	Human		name
152172350	CV1575807	single nucleotide variant	NM_016180.5(SLC45A2):c.435C>A (p.Thr145=)	not provided [RCV002183811]	likely benign	5	33982363	33982363	Human		name
152097389	CV1599938	single nucleotide variant	NM_016180.5(SLC45A2):c.325C>T (p.Leu109=)	not provided [RCV002151371]	likely benign	5	33984259	33984259	Human		name
152132569	CV1604801	single nucleotide variant	NM_016180.5(SLC45A2):c.897G>A (p.Arg299=)	not provided [RCV002099686]	likely benign	5	33954496	33954496	Human		name
152156202	CV1615726	single nucleotide variant	NM_016180.5(SLC45A2):c.813C>T (p.Ile271=)	not provided [RCV002158884]	likely benign	5	33963766	33963766	Human		name
152173007	CV1641808	single nucleotide variant	NM_016180.5(SLC45A2):c.633G>A (p.Leu211=)	not provided [RCV002184033]	likely benign	5	33963946	33963946	Human		name
152137622	CV1652387	single nucleotide variant	NM_016180.5(SLC45A2):c.480T>C (p.Asp160=)	not provided [RCV002083725]	likely benign	5	33982318	33982318	Human		name
152029714	CV1653430	single nucleotide variant	NM_016180.5(SLC45A2):c.777A>C (p.Pro259=)	SLC45A2-related disorder [RCV003911333]\|not provided [RCV002085895]	likely benign	5	33963802	33963802	Human	1	name , trait , alternate_id
152072620	CV1657235	single nucleotide variant	NM_016180.5(SLC45A2):c.670T>C (p.Leu224=)	not provided [RCV002210179]	likely benign	5	33963909	33963909	Human		name
152119003	CV1664654	single nucleotide variant	NM_016180.5(SLC45A2):c.399C>T (p.Asn133=)	not provided [RCV002117595]	likely benign	5	33982399	33982399	Human		name
156370689	CV1905226	single nucleotide variant	NM_016180.5(SLC45A2):c.720C>T (p.Ala240=)	not provided [RCV002582390]	likely benign	5	33963859	33963859	Human		name
10048740	CV194470	single nucleotide variant	NM_016180.5(SLC45A2):c.987A>G (p.Thr329=)	Oculocutaneous albinism type 4 [RCV001808454]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002500501]\|not provided [RCV001518092]\|not specified [RCV000178307]	benign	5	33954406	33954406	Human	2	name
156067529	CV1952412	single nucleotide variant	NM_016180.5(SLC45A2):c.957C>T (p.Tyr319=)	not provided [RCV002569504]	likely benign	5	33954436	33954436	Human		name
156223945	CV1960422	single nucleotide variant	NM_016180.5(SLC45A2):c.729A>C (p.Thr243=)	not provided [RCV002575631]	likely benign	5	33963850	33963850	Human		name
156061055	CV1978999	deletion	NM_016180.5(SLC45A2):c.1156+17_1156+18del	not provided [RCV002590978]	likely benign	5	33951536	33951537	Human		name
156203695	CV2004319	single nucleotide variant	NM_016180.5(SLC45A2):c.987A>C (p.Thr329=)	not provided [RCV002666587]	likely benign	5	33954406	33954406	Human		name
156177128	CV2010416	single nucleotide variant	NM_016180.5(SLC45A2):c.513C>T (p.Cys171=)	not provided [RCV002710665]	likely benign	5	33982285	33982285	Human		name
156353761	CV2011911	single nucleotide variant	NM_016180.5(SLC45A2):c.483G>T (p.Gly161=)	not provided [RCV002720376]	likely benign	5	33982315	33982315	Human		name
156215763	CV2015227	single nucleotide variant	NM_016180.5(SLC45A2):c.561A>G (p.Thr187=)	not provided [RCV002700807]	uncertain significance	5	33982237	33982237	Human		name
156238217	CV2031788	single nucleotide variant	NM_016180.5(SLC45A2):c.618G>A (p.Glu206=)	not provided [RCV002745571]	likely benign	5	33963961	33963961	Human		name
155957433	CV2040229	single nucleotide variant	NM_016180.5(SLC45A2):c.414G>T (p.Leu138=)	not provided [RCV002776090]	likely benign	5	33982384	33982384	Human		name
156080664	CV2050056	single nucleotide variant	NM_016180.5(SLC45A2):c.567T>C (p.Phe189=)	not provided [RCV002823844]	likely benign	5	33964012	33964012	Human		name
156218779	CV2104682	single nucleotide variant	NM_016180.5(SLC45A2):c.972C>T (p.His324=)	not provided [RCV002932372]	likely benign	5	33954421	33954421	Human		name
156058927	CV2134157	single nucleotide variant	NM_016180.5(SLC45A2):c.32A>G (p.His11Arg)	not provided [RCV003000131]	uncertain significance	5	33984552	33984552	Human		name
13834289	CV213560	deletion	NM_016180.5(SLC45A2):c.264del (p.Gly89fs)	Oculocutaneous albinism type 4 [RCV000779473]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV004567769]\|SLC45A2-related disorder [RCV004755829]\|not provided [RCV000729765]	pathogenic\|likely pathogenic	5	33984320	33984320	Human	2	name , trait , alternate_id
156105418	CV2149364	single nucleotide variant	NM_016180.5(SLC45A2):c.52G>A (p.Asp18Asn)	not provided [RCV003021199]	uncertain significance	5	33984532	33984532	Human		name
156151599	CV2150488	single nucleotide variant	NM_016180.5(SLC45A2):c.651C>T (p.Val217=)	not provided [RCV003022869]	likely benign	5	33963928	33963928	Human		name
156274395	CV2164290	single nucleotide variant	NM_016180.5(SLC45A2):c.631T>C (p.Leu211=)	not provided [RCV003027102]	likely benign	5	33963948	33963948	Human		name
156150193	CV2175295	single nucleotide variant	NM_016180.5(SLC45A2):c.38A>G (p.Tyr13Cys)	not provided [RCV003040345]	uncertain significance	5	33984546	33984546	Human		name
156128762	CV2184895	single nucleotide variant	NM_016180.5(SLC45A2):c.369G>C (p.Gly123=)	not provided [RCV003039612]	likely benign	5	33984215	33984215	Human		name
156376933	CV2189081	single nucleotide variant	NM_016180.5(SLC45A2):c.342C>T (p.Leu114=)	not provided [RCV003050180]	likely benign	5	33984242	33984242	Human		name
405046100	CV2860006	single nucleotide variant	NM_016180.5(SLC45A2):c.762C>A (p.Thr254=)	not provided [RCV003579458]	likely benign	5	33963817	33963817	Human		name
402517566	CV2870755	single nucleotide variant	NM_016180.5(SLC45A2):c.498C>T (p.Tyr166=)	not provided [RCV003547515]	likely benign	5	33982300	33982300	Human		name
405182918	CV2909766	single nucleotide variant	NM_016180.5(SLC45A2):c.975C>T (p.Leu325=)	not provided [RCV003564165]	likely benign	5	33954418	33954418	Human		name
402464815	CV2920173	single nucleotide variant	NM_016180.5(SLC45A2):c.783A>T (p.Ser261=)	not provided [RCV003569005]	likely benign	5	33963796	33963796	Human		name
402483861	CV2922252	single nucleotide variant	NM_016180.5(SLC45A2):c.822T>A (p.Val274=)	not provided [RCV003572344]	likely benign	5	33963757	33963757	Human		name
402500570	CV2943603	single nucleotide variant	NM_016180.5(SLC45A2):c.780G>A (p.Leu260=)	not provided [RCV003661560]	likely benign	5	33963799	33963799	Human		name
405078479	CV2945390	single nucleotide variant	NM_016180.5(SLC45A2):c.807T>C (p.Gly269=)	not provided [RCV003664428]	likely benign	5	33963772	33963772	Human		name
402498576	CV2946764	single nucleotide variant	NM_016180.5(SLC45A2):c.468C>T (p.Ala156=)	not provided [RCV003661372]	likely benign	5	33982330	33982330	Human		name
405156462	CV2949464	single nucleotide variant	NM_016180.5(SLC45A2):c.52G>C (p.Asp18His)	not provided [RCV003674275]	uncertain significance	5	33984532	33984532	Human		name
405194312	CV2975242	single nucleotide variant	NM_016180.5(SLC45A2):c.996G>C (p.Leu332=)	not provided [RCV003677499]	likely benign	5	33954397	33954397	Human		name
405222567	CV2976356	single nucleotide variant	NM_016180.5(SLC45A2):c.819A>G (p.Lys273=)	not provided [RCV003680916]	likely benign	5	33963760	33963760	Human		name
402516410	CV2992201	single nucleotide variant	NM_016180.5(SLC45A2):c.828T>C (p.Asn276=)	not provided [RCV003689966]	likely benign	5	33963751	33963751	Human		name
405116637	CV2996505	single nucleotide variant	NM_016180.5(SLC45A2):c.307A>C (p.Arg103=)	not provided [RCV003723362]	likely benign	5	33984277	33984277	Human		name
404986171	CV3001503	single nucleotide variant	NM_016180.5(SLC45A2):c.381A>G (p.Val127=)	not provided [RCV003691848]	likely benign	5	33984203	33984203	Human		name
402490589	CV3011814	single nucleotide variant	NM_016180.5(SLC45A2):c.552C>T (p.Ala184=)	not provided [RCV003687495]	likely benign	5	33982246	33982246	Human		name
405001705	CV3015300	single nucleotide variant	NM_016180.5(SLC45A2):c.312C>G (p.Pro104=)	not provided [RCV003693241]	likely benign	5	33984272	33984272	Human		name
405167487	CV3019068	single nucleotide variant	NM_016180.5(SLC45A2):c.540C>A (p.Leu180=)	not provided [RCV003704422]	likely benign	5	33982258	33982258	Human		name
405142881	CV3023050	single nucleotide variant	NM_016180.5(SLC45A2):c.318C>T (p.Ile106=)	not provided [RCV003702673]	likely benign	5	33984266	33984266	Human		name
405048110	CV3028982	single nucleotide variant	NM_016180.5(SLC45A2):c.852A>C (p.Ala284=)	not provided [RCV003696807]	likely benign	5	33963727	33963727	Human		name
11655226	CV303512	single nucleotide variant	NM_016180.5(SLC45A2):c.372T>A (p.Ala124=)	Oculocutaneous albinism type 4 [RCV000324344]\|not provided [RCV003766034]	likely benign\|uncertain significance	5	33984212	33984212	Human	1	name
11644380	CV303763	single nucleotide variant	NM_016180.5(SLC45A2):c.627A>G (p.Arg209=)	Oculocutaneous albinism type 4 [RCV000259908]\|not provided [RCV002061280]	likely benign\|uncertain significance	5	33963952	33963952	Human	1	name
405197260	CV3037873	single nucleotide variant	NM_016180.5(SLC45A2):c.585C>T (p.Tyr195=)	not provided [RCV003707062]	likely benign	5	33963994	33963994	Human		name
405236503	CV3038125	single nucleotide variant	NM_016180.5(SLC45A2):c.333C>A (p.Val111=)	not provided [RCV003712447]	likely benign	5	33984251	33984251	Human		name
402512449	CV3039745	deletion	NM_016180.5(SLC45A2):c.258del (p.Val87fs)	not provided [RCV003715801]	pathogenic	5	33984326	33984326	Human		name
405029931	CV3077286	single nucleotide variant	NM_016180.5(SLC45A2):c.702G>A (p.Leu234=)	not provided [RCV003739068]	likely benign	5	33963877	33963877	Human		name
405139465	CV3130881	single nucleotide variant	NM_016180.5(SLC45A2):c.777A>G (p.Pro259=)	not provided [RCV003839115]	likely benign	5	33963802	33963802	Human		name
405143707	CV3155722	single nucleotide variant	NM_016180.5(SLC45A2):c.483G>A (p.Gly161=)	not provided [RCV003855764]	likely benign	5	33982315	33982315	Human		name
405168279	CV3156899	single nucleotide variant	NM_016180.5(SLC45A2):c.546C>T (p.Tyr182=)	not provided [RCV003857603]	likely benign	5	33982252	33982252	Human		name
405222309	CV3158247	single nucleotide variant	NM_016180.5(SLC45A2):c.303C>T (p.Arg101=)	not provided [RCV003863743]	likely benign	5	33984281	33984281	Human		name
405209388	CV3162485	single nucleotide variant	NM_016180.5(SLC45A2):c.990C>T (p.Ala330=)	not provided [RCV003861784]	likely benign	5	33954403	33954403	Human		name
12741907	CV361183	duplication	NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs)	Oculocutaneous albinism type 4 [RCV000415377]	pathogenic	5	33984420	33984421	Human	1	name
597860004	CV3755932	single nucleotide variant	NM_016180.5(SLC45A2):c.975C>A (p.Leu325=)	not provided [RCV005089083]	likely benign	5	33954418	33954418	Human		name
597919656	CV3765016	single nucleotide variant	NM_016180.5(SLC45A2):c.525C>T (p.Asp175=)	not provided [RCV005115031]	likely benign	5	33982273	33982273	Human		name
597924503	CV3772571	single nucleotide variant	NM_016180.5(SLC45A2):c.708T>C (p.Ser236=)	not provided [RCV005115721]	likely benign	5	33963871	33963871	Human		name
597946523	CV3774895	single nucleotide variant	NM_016180.5(SLC45A2):c.396T>A (p.Ala132=)	not provided [RCV005119992]	likely benign	5	33982402	33982402	Human		name
597949389	CV3818553	single nucleotide variant	NM_016180.5(SLC45A2):c.348C>T (p.Gly116=)	not provided [RCV005160814]	likely benign	5	33984236	33984236	Human		name
13215943	CV428416	single nucleotide variant	NM_016180.5(SLC45A2):c.86A>G (p.Lys29Arg)	not provided [RCV001857165]\|not specified [RCV000503066]	uncertain significance	5	33984498	33984498	Human		name
15175815	CV735068	single nucleotide variant	NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=)	Oculocutaneous albinism type 4 [RCV001153932]\|not provided [RCV000906298]	benign\|uncertain significance	5	33963745	33963745	Human	1	name
28894532	CV894103	single nucleotide variant	NM_016180.5(SLC45A2):c.528G>A (p.Lys176=)	Oculocutaneous albinism type 4 [RCV001153936]\|not provided [RCV002070879]	likely benign\|uncertain significance	5	33982270	33982270	Human	1	name
28894535	CV894104	single nucleotide variant	NM_016180.5(SLC45A2):c.432C>T (p.Val144=)	Oculocutaneous albinism type 4 [RCV001153937]\|not provided [RCV002070880]	likely benign\|uncertain significance	5	33982366	33982366	Human	1	name
28896778	CV894105	single nucleotide variant	NM_016180.5(SLC45A2):c.324C>G (p.Thr108=)	Oculocutaneous albinism type 4 [RCV001154784]	uncertain significance	5	33984260	33984260	Human	1	name
126772837	CV1006121	single nucleotide variant	NM_016180.5(SLC45A2):c.126G>T (p.Met42Ile)	not provided [RCV001323984]	uncertain significance	5	33984458	33984458	Human		name
126726675	CV1016560	deletion	NM_016180.5(SLC45A2):c.987del (p.Ala330fs)	not provided [RCV001783771]	pathogenic\|likely pathogenic	5	33954406	33954406	Human		name
127282902	CV1094352	single nucleotide variant	NM_016180.5(SLC45A2):c.1257G>A (p.Pro419=)	not provided [RCV001448155]	likely benign	5	33947274	33947274	Human		name
127329896	CV1115882	single nucleotide variant	NM_016180.5(SLC45A2):c.1197T>C (p.Gly399=)	not provided [RCV001470477]	likely benign	5	33947334	33947334	Human		name
127317130	CV1155050	single nucleotide variant	NM_016180.5(SLC45A2):c.1254C>T (p.Phe418=)	not provided [RCV001520911]	benign	5	33947277	33947277	Human		name
150552527	CV1308844	single nucleotide variant	NM_016180.5(SLC45A2):c.1368G>A (p.Glu456=)	not provided [RCV001767932]	uncertain significance	5	33947163	33947163	Human		name
151349418	CV1325334	single nucleotide variant	NM_016180.5(SLC45A2):c.208T>C (p.Tyr70His)	Oculocutaneous albinism type 4 [RCV001814624]	not provided	5	33984376	33984376	Human		name
151844125	CV1339427	single nucleotide variant	NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)	Oculocutaneous albinism type 4 [RCV002283574]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002479639]\|SLC45A2-related disorder [RCV003408040]\|not provided [RCV001978060]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	33984310	33984310	Human	2	name , trait , alternate_id
151841013	CV1342267	single nucleotide variant	NM_016180.5(SLC45A2):c.256C>T (p.Pro86Ser)	not provided [RCV001956749]	uncertain significance	5	33984328	33984328	Human		name
151723067	CV1358102	single nucleotide variant	NM_016180.5(SLC45A2):c.176T>G (p.Val59Gly)	not provided [RCV001945185]	uncertain significance	5	33984408	33984408	Human		name
151811271	CV1359427	single nucleotide variant	NM_016180.5(SLC45A2):c.130G>C (p.Gly44Arg)	not provided [RCV001991853]	pathogenic\|uncertain significance	5	33984454	33984454	Human		name
151750560	CV1360839	single nucleotide variant	NM_016180.5(SLC45A2):c.211A>G (p.Ser71Gly)	not provided [RCV001894287]	uncertain significance	5	33984373	33984373	Human		name
151811231	CV1376660	single nucleotide variant	NM_016180.5(SLC45A2):c.129C>G (p.Phe43Leu)	not provided [RCV001899972]	uncertain significance	5	33984455	33984455	Human		name
151801412	CV1405548	single nucleotide variant	NM_016180.5(SLC45A2):c.280C>G (p.His94Asp)	not provided [RCV001899096]	uncertain significance	5	33984304	33984304	Human		name
151831114	CV1405550	single nucleotide variant	NM_016180.5(SLC45A2):c.265G>A (p.Gly89Arg)	Oculocutaneous albinism type 4 [RCV004699545]\|not provided [RCV001901821]	likely pathogenic\|uncertain significance	5	33984319	33984319	Human	1	name
151857459	CV1408088	single nucleotide variant	NM_016180.5(SLC45A2):c.1209G>A (p.Thr403=)	not provided [RCV001883499]	uncertain significance	5	33947322	33947322	Human		name
151842839	CV1408672	single nucleotide variant	NM_016180.5(SLC45A2):c.191G>A (p.Gly64Asp)	Inborn genetic diseases [RCV005281084]\|not provided [RCV002015547]	likely pathogenic\|uncertain significance	5	33984393	33984393	Human	1	name
151870838	CV1413406	single nucleotide variant	NM_016180.5(SLC45A2):c.158C>T (p.Ala53Val)	not provided [RCV001998312]	uncertain significance	5	33984426	33984426	Human		name
151867952	CV1429655	single nucleotide variant	NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn)	Oculocutaneous albinism type 4 [RCV004770313]\|not provided [RCV002035293]	pathogenic	5	33984307	33984307	Human	1	name
151840318	CV1432006	single nucleotide variant	NM_016180.5(SLC45A2):c.1401C>T (p.Asn467=)	not provided [RCV001994662]	likely benign	5	33944840	33944840	Human		name
151715411	CV1434811	single nucleotide variant	NM_016180.5(SLC45A2):c.269C>G (p.Ser90Trp)	not provided [RCV001890242]	uncertain significance	5	33984315	33984315	Human		name
151868598	CV1444770	duplication	NM_016180.5(SLC45A2):c.626dup (p.Leu210fs)	not provided [RCV001939488]	pathogenic	5	33963952	33963953	Human		name
151747308	CV1462407	single nucleotide variant	NM_016180.5(SLC45A2):c.281A>T (p.His94Leu)	not provided [RCV001968789]	uncertain significance	5	33984303	33984303	Human		name
151715567	CV1472627	single nucleotide variant	NM_016180.5(SLC45A2):c.187G>C (p.Val63Leu)	not provided [RCV002039277]	uncertain significance	5	33984397	33984397	Human		name
151788649	CV1488919	single nucleotide variant	NM_016180.5(SLC45A2):c.158C>A (p.Ala53Glu)	not provided [RCV002010472]	uncertain significance	5	33984426	33984426	Human		name
151721449	CV1489483	single nucleotide variant	NM_016180.5(SLC45A2):c.104T>C (p.Leu35Pro)	not provided [RCV001891166]	likely pathogenic\|uncertain significance	5	33984480	33984480	Human		name
151764782	CV1490997	duplication	NM_016180.5(SLC45A2):c.802dup (p.Tyr268fs)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005032020]\|not provided [RCV001949561]	pathogenic\|likely pathogenic	5	33963776	33963777	Human	1	name
151719653	CV1491359	single nucleotide variant	NM_016180.5(SLC45A2):c.118A>G (p.Met40Val)	not provided [RCV002003466]	uncertain significance	5	33984466	33984466	Human		name
151888919	CV1509322	single nucleotide variant	NM_016180.5(SLC45A2):c.1134C>A (p.Ser378=)	not provided [RCV001888070]	likely benign\|uncertain significance	5	33951576	33951576	Human		name
152062532	CV1524351	single nucleotide variant	NM_016180.5(SLC45A2):c.1053C>G (p.Pro351=)	not provided [RCV002146948]	likely benign	5	33951657	33951657	Human		name
152150233	CV1531274	single nucleotide variant	NM_016180.5(SLC45A2):c.1566C>T (p.Val522=)	not provided [RCV002201851]	likely benign	5	33944675	33944675	Human		name
152142712	CV1538281	single nucleotide variant	NM_016180.5(SLC45A2):c.1416G>A (p.Lys472=)	not provided [RCV002219585]	likely benign	5	33944825	33944825	Human		name
152031159	CV1548637	single nucleotide variant	NM_016180.5(SLC45A2):c.1548G>T (p.Leu516=)	not provided [RCV002086301]	likely benign	5	33944693	33944693	Human		name
152060889	CV1558282	single nucleotide variant	NM_016180.5(SLC45A2):c.1353C>T (p.Arg451=)	not provided [RCV002128325]	likely benign	5	33947178	33947178	Human		name
152119414	CV1558504	single nucleotide variant	NM_016180.5(SLC45A2):c.1272C>G (p.Thr424=)	not provided [RCV002135515]	likely benign	5	33947259	33947259	Human		name
152077763	CV1560975	single nucleotide variant	NM_016180.5(SLC45A2):c.1515C>T (p.Val505=)	not provided [RCV002112339]	likely benign	5	33944726	33944726	Human		name
152045701	CV1591117	single nucleotide variant	NM_016180.5(SLC45A2):c.1263C>T (p.Val421=)	not provided [RCV002188808]	likely benign	5	33947268	33947268	Human		name
152137086	CV1608886	single nucleotide variant	NM_016180.5(SLC45A2):c.1428C>T (p.Cys476=)	not provided [RCV002119849]	likely benign	5	33944813	33944813	Human		name
152135850	CV1624632	single nucleotide variant	NM_016180.5(SLC45A2):c.1248G>A (p.Gly416=)	not provided [RCV002177407]	likely benign	5	33947283	33947283	Human		name
152079318	CV1632403	single nucleotide variant	NM_016180.5(SLC45A2):c.1119C>A (p.Gly373=)	not provided [RCV002130631]	likely benign	5	33951591	33951591	Human		name
152167050	CV1632874	single nucleotide variant	NM_016180.5(SLC45A2):c.1134C>T (p.Ser378=)	not provided [RCV002182069]	likely benign	5	33951576	33951576	Human		name
152085401	CV1646798	single nucleotide variant	NM_016180.5(SLC45A2):c.1323G>A (p.Val441=)	not provided [RCV002149857]	likely benign	5	33947208	33947208	Human		name
152152504	CV1664502	single nucleotide variant	NM_016180.5(SLC45A2):c.1572C>G (p.Leu524=)	not provided [RCV002158400]	likely benign	5	33944669	33944669	Human		name
152113284	CV1665247	single nucleotide variant	NM_016180.5(SLC45A2):c.1548G>C (p.Leu516=)	not provided [RCV002097137]	likely benign	5	33944693	33944693	Human		name
156025318	CV1917532	single nucleotide variant	NM_016180.5(SLC45A2):c.1383A>G (p.Pro461=)	not provided [RCV002619601]	likely benign	5	33944858	33944858	Human		name
156364880	CV1934916	single nucleotide variant	NM_016180.5(SLC45A2):c.126G>A (p.Met42Ile)	not provided [RCV002651892]	uncertain significance	5	33984458	33984458	Human		name
156434733	CV1940176	single nucleotide variant	NM_016180.5(SLC45A2):c.129C>A (p.Phe43Leu)	not provided [RCV003104592]	uncertain significance	5	33984455	33984455	Human		name
8558112	CV19539	deletion	NM_016180.5(SLC45A2):c.986del (p.Thr329fs)	Oculocutaneous albinism type 4 [RCV000004758]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV004566683]\|not provided [RCV000724498]	pathogenic	5	33954407	33954407	Human	2	name
155968203	CV1967934	deletion	NM_016180.5(SLC45A2):c.692del (p.Thr231fs)	not provided [RCV002617054]	pathogenic	5	33963887	33963887	Human		name
156414596	CV1986765	single nucleotide variant	NM_016180.5(SLC45A2):c.1326C>T (p.Pro442=)	not provided [RCV002609276]	likely benign	5	33947205	33947205	Human		name
156007865	CV1989472	single nucleotide variant	NM_016180.5(SLC45A2):c.1206C>T (p.Phe402=)	not provided [RCV002636069]	likely benign	5	33947325	33947325	Human		name
155993244	CV1990608	single nucleotide variant	NM_016180.5(SLC45A2):c.1029C>G (p.Gly343=)	not provided [RCV002618113]	likely benign	5	33954364	33954364	Human		name
156228157	CV1991671	single nucleotide variant	NM_016180.5(SLC45A2):c.1113T>C (p.Cys371=)	not provided [RCV002626694]	likely benign	5	33951597	33951597	Human		name
156027604	CV2004700	single nucleotide variant	NM_016180.5(SLC45A2):c.1521G>C (p.Val507=)	not provided [RCV002658522]	likely benign	5	33944720	33944720	Human		name
155902010	CV2010229	single nucleotide variant	NM_016180.5(SLC45A2):c.1083C>T (p.Leu361=)	not provided [RCV002726240]	likely benign	5	33951627	33951627	Human		name
155962748	CV2034012	single nucleotide variant	NM_016180.5(SLC45A2):c.125T>C (p.Met42Thr)	not provided [RCV002731254]\|not specified [RCV005239498]	uncertain significance	5	33984459	33984459	Human		name
156022413	CV2040748	single nucleotide variant	NM_016180.5(SLC45A2):c.1539G>A (p.Ala513=)	not provided [RCV002795650]	likely benign	5	33944702	33944702	Human		name
156248540	CV2049579	single nucleotide variant	NM_016180.5(SLC45A2):c.200G>C (p.Ser67Thr)	not provided [RCV002791611]	uncertain significance	5	33984384	33984384	Human		name
156282972	CV2050044	deletion	NM_016180.5(SLC45A2):c.349del (p.Met117fs)	not provided [RCV002807052]	pathogenic	5	33984235	33984235	Human		name
156023657	CV2116004	single nucleotide variant	NM_016180.5(SLC45A2):c.217G>A (p.Val73Met)	not provided [RCV002909734]	uncertain significance	5	33984367	33984367	Human		name
156145047	CV2178719	single nucleotide variant	NM_016180.5(SLC45A2):c.1128C>A (p.Ile376=)	not provided [RCV003040173]	likely benign	5	33951582	33951582	Human		name
401732508	CV2691028	single nucleotide variant	NM_016180.5(SLC45A2):c.185G>A (p.Ser62Asn)	Inborn genetic diseases [RCV003290202]	uncertain significance	5	33984399	33984399	Human	1	name
401875447	CV2766060	single nucleotide variant	NM_016180.5(SLC45A2):c.163T>A (p.Tyr55Asn)	Inborn genetic diseases [RCV003347715]	uncertain significance	5	33984421	33984421	Human	1	name
401914666	CV2799216	deletion	NM_016180.5(SLC45A2):c.764del (p.Pro255fs)	SLC45A2-related disorder [RCV003400351]	likely pathogenic	5	33963815	33963815	Human		name , trait , alternate_id
402481202	CV2864022	single nucleotide variant	NM_016180.5(SLC45A2):c.1245T>A (p.Ile415=)	not provided [RCV003543971]	likely benign	5	33947286	33947286	Human		name
402522540	CV2867570	single nucleotide variant	NM_016180.5(SLC45A2):c.1275G>C (p.Leu425=)	not provided [RCV003547870]	likely benign	5	33947256	33947256	Human		name
405078662	CV2869687	single nucleotide variant	NM_016180.5(SLC45A2):c.1059T>C (p.Ser353=)	not provided [RCV003548925]	likely benign	5	33951651	33951651	Human		name
402517667	CV2870769	single nucleotide variant	NM_016180.5(SLC45A2):c.1566C>G (p.Val522=)	not provided [RCV003547522]	likely benign	5	33944675	33944675	Human		name
405193632	CV2872338	single nucleotide variant	NM_016180.5(SLC45A2):c.1065C>T (p.His355=)	not provided [RCV003550633]	likely benign	5	33951645	33951645	Human		name
405091282	CV2877596	single nucleotide variant	NM_016180.5(SLC45A2):c.1293T>C (p.Phe431=)	not provided [RCV003549920]	likely benign	5	33947238	33947238	Human		name
405211735	CV2878469	single nucleotide variant	NM_016180.5(SLC45A2):c.1299A>G (p.Val433=)	not provided [RCV003552697]	likely benign	5	33947232	33947232	Human		name
405229429	CV2894581	single nucleotide variant	NM_016180.5(SLC45A2):c.1182C>T (p.Tyr394=)	not provided [RCV003555092]	likely benign	5	33947349	33947349	Human		name
405229055	CV2894736	single nucleotide variant	NM_016180.5(SLC45A2):c.113A>G (p.His38Arg)	Oculocutaneous albinism type 4 [RCV004701733]\|not provided [RCV003555181]	pathogenic\|likely pathogenic	5	33984471	33984471	Human	1	name
405173798	CV2897709	single nucleotide variant	NM_016180.5(SLC45A2):c.1236G>A (p.Thr412=)	not provided [RCV003563248]	likely benign	5	33947295	33947295	Human		name
405195891	CV2921946	single nucleotide variant	NM_016180.5(SLC45A2):c.1476T>C (p.Gly492=)	not provided [RCV003565271]	likely benign	5	33944765	33944765	Human		name
402505567	CV2927746	single nucleotide variant	NM_016180.5(SLC45A2):c.1095A>G (p.Arg365=)	not provided [RCV003574420]	likely benign	5	33951615	33951615	Human		name
402506797	CV2927830	single nucleotide variant	NM_016180.5(SLC45A2):c.1465C>T (p.Leu489=)	not provided [RCV003574469]	likely benign	5	33944776	33944776	Human		name
405059949	CV2929150	single nucleotide variant	NM_016180.5(SLC45A2):c.1020T>C (p.Asp340=)	not provided [RCV003580395]	likely benign	5	33954373	33954373	Human		name
402504262	CV2933547	single nucleotide variant	NM_016180.5(SLC45A2):c.1179C>T (p.Ser393=)	not provided [RCV003574306]	likely benign	5	33947352	33947352	Human		name
405117481	CV2949602	single nucleotide variant	NM_016180.5(SLC45A2):c.1371G>A (p.Arg457=)	not provided [RCV003667077]	likely benign	5	33944870	33944870	Human		name
405118026	CV2955782	single nucleotide variant	NM_016180.5(SLC45A2):c.1572C>T (p.Leu524=)	not provided [RCV003671162]	likely benign	5	33944669	33944669	Human		name
405135032	CV2957996	single nucleotide variant	NM_016180.5(SLC45A2):c.1305C>T (p.Ser435=)	not provided [RCV003672741]	likely benign	5	33947226	33947226	Human		name
405247047	CV2966580	single nucleotide variant	NM_016180.5(SLC45A2):c.1464C>A (p.Ile488=)	not provided [RCV003685576]	likely benign	5	33944777	33944777	Human		name
11663742	CV297302	single nucleotide variant	NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=)	Oculocutaneous albinism type 4 [RCV000399093]\|SLC45A2-related disorder [RCV003922557]\|not provided [RCV002523519]	benign\|likely benign\|uncertain significance	5	33944708	33944708	Human	1	name , trait , alternate_id
11661672	CV297309	single nucleotide variant	NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr)	Oculocutaneous albinism type 4 [RCV000378967]\|not specified [RCV005407076]	uncertain significance	5	33984352	33984352	Human	1	name
405237229	CV2973623	single nucleotide variant	NM_016180.5(SLC45A2):c.1017A>G (p.Thr339=)	not provided [RCV003683259]	likely benign	5	33954376	33954376	Human		name
402497452	CV2978756	single nucleotide variant	NM_016180.5(SLC45A2):c.1407G>A (p.Val469=)	not provided [RCV003714249]	likely benign	5	33944834	33944834	Human		name
404985773	CV2979679	single nucleotide variant	NM_016180.5(SLC45A2):c.1320T>A (p.Thr440=)	not provided [RCV003691736]	likely benign	5	33947211	33947211	Human		name
405012626	CV2990526	deletion	NM_016180.5(SLC45A2):c.371del (p.Ala124fs)	not provided [RCV003694094]	pathogenic	5	33984213	33984213	Human		name
402514855	CV2993144	single nucleotide variant	NM_016180.5(SLC45A2):c.1458T>A (p.Ala486=)	not provided [RCV003715986]	likely benign	5	33944783	33944783	Human		name
402489903	CV2995653	single nucleotide variant	NM_016180.5(SLC45A2):c.1119C>T (p.Gly373=)	not provided [RCV003687347]	likely benign	5	33951591	33951591	Human		name
405249534	CV3000649	single nucleotide variant	NM_016180.5(SLC45A2):c.1389G>C (p.Gly463=)	not provided [RCV003721306]	likely benign	5	33944852	33944852	Human		name
405158896	CV3021276	single nucleotide variant	NM_016180.5(SLC45A2):c.1389G>A (p.Gly463=)	not provided [RCV003703821]	likely benign	5	33944852	33944852	Human		name
405162209	CV3021691	single nucleotide variant	NM_016180.5(SLC45A2):c.1014C>T (p.Phe338=)	not provided [RCV003704043]	likely benign	5	33954379	33954379	Human		name
405055949	CV3023317	single nucleotide variant	NM_016180.5(SLC45A2):c.1275G>A (p.Leu425=)	not provided [RCV003697340]	likely benign	5	33947256	33947256	Human		name
405195495	CV3037568	single nucleotide variant	NM_016180.5(SLC45A2):c.1086C>T (p.Ile362=)	not provided [RCV003706869]	likely benign	5	33951624	33951624	Human		name
11660433	CV303761	single nucleotide variant	NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=)	Oculocutaneous albinism type 4 [RCV000367079]\|not provided [RCV002520368]	likely benign\|uncertain significance	5	33951621	33951621	Human	1	name
405139895	CV3045877	single nucleotide variant	NM_016180.5(SLC45A2):c.1212A>T (p.Gly404=)	not provided [RCV003725556]	likely benign	5	33947319	33947319	Human		name
405252173	CV3050856	single nucleotide variant	NM_016180.5(SLC45A2):c.1101C>T (p.Val367=)	not provided [RCV003722102]	likely benign	5	33951609	33951609	Human		name
405163275	CV3062509	duplication	NM_016180.5(SLC45A2):c.869dup (p.Asn290fs)	not provided [RCV003727095]	pathogenic	5	33963709	33963710	Human		name
405207972	CV3065291	single nucleotide variant	NM_016180.5(SLC45A2):c.1500A>G (p.Thr500=)	not provided [RCV003731584]	likely benign	5	33944741	33944741	Human		name
405236732	CV3076781	single nucleotide variant	NM_016180.5(SLC45A2):c.269C>A (p.Ser90Ter)	not provided [RCV003736029]	pathogenic	5	33984315	33984315	Human		name
405096087	CV3119047	single nucleotide variant	NM_016180.5(SLC45A2):c.1305C>A (p.Ser435=)	not provided [RCV003811498]	likely benign	5	33947226	33947226	Human		name
402520289	CV3126841	single nucleotide variant	NM_016180.5(SLC45A2):c.1311C>T (p.Thr437=)	not provided [RCV003824759]	likely benign	5	33947220	33947220	Human		name
405132559	CV3130105	single nucleotide variant	NM_016180.5(SLC45A2):c.1404C>T (p.Ser468=)	not provided [RCV003838528]	likely benign	5	33944837	33944837	Human		name
405118874	CV3134763	single nucleotide variant	NM_016180.5(SLC45A2):c.1149T>G (p.Leu383=)	not provided [RCV003837173]	likely benign	5	33951561	33951561	Human		name
405185445	CV3138679	deletion	NM_016180.5(SLC45A2):c.581del (p.Gly194fs)	not provided [RCV003842891]	pathogenic	5	33963998	33963998	Human		name
405170319	CV3149996	single nucleotide variant	NM_016180.5(SLC45A2):c.1314G>T (p.Leu438=)	not provided [RCV003841467]	likely benign	5	33947217	33947217	Human		name
405224031	CV3151188	single nucleotide variant	NM_016180.5(SLC45A2):c.1584T>C (p.Tyr528=)	not provided [RCV003847613]	likely benign	5	33944657	33944657	Human		name
405156038	CV3152482	single nucleotide variant	NM_016180.5(SLC45A2):c.1266C>T (p.Tyr422=)	not provided [RCV003840409]	likely benign	5	33947265	33947265	Human		name
405184083	CV3155980	single nucleotide variant	NM_016180.5(SLC45A2):c.1029C>A (p.Gly343=)	not provided [RCV003859054]	likely benign	5	33954364	33954364	Human		name
405155504	CV3159398	single nucleotide variant	NM_016180.5(SLC45A2):c.1161T>C (p.Phe387=)	not provided [RCV003856663]	likely benign	5	33947370	33947370	Human		name
405151980	CV3162978	single nucleotide variant	NM_016180.5(SLC45A2):c.1068C>T (p.Asn356=)	not provided [RCV003856421]	likely benign	5	33951642	33951642	Human		name
402467721	CV3174161	single nucleotide variant	NM_016180.5(SLC45A2):c.1470C>T (p.Val490=)	not provided [RCV003873444]	likely benign	5	33944771	33944771	Human		name
405259021	CV3194465	single nucleotide variant	NM_016180.5(SLC45A2):c.1131C>T (p.Asn377=)	SLC45A2-related disorder [RCV003893862]	likely benign	5	33951579	33951579	Human		name , trait , alternate_id
405710799	CV3329365	single nucleotide variant	NM_016180.5(SLC45A2):c.281A>G (p.His94Arg)	Inborn genetic diseases [RCV004461754]	uncertain significance	5	33984303	33984303	Human	1	name
407476001	CV3494825	single nucleotide variant	NM_016180.5(SLC45A2):c.146A>G (p.Tyr49Cys)	not specified [RCV004690726]	uncertain significance	5	33984438	33984438	Human		name
407573024	CV3498801	single nucleotide variant	NM_016180.5(SLC45A2):c.179T>G (p.Leu60Arg)	not specified [RCV004699770]	uncertain significance	5	33984405	33984405	Human		name
408365150	CV3499756	deletion	NM_016180.5(SLC45A2):c.816del (p.Val274fs)	Oculocutaneous albinism type 4 [RCV004720564]	likely pathogenic	5	33963763	33963763	Human	1	name
408366342	CV3508666	single nucleotide variant	NM_016180.5(SLC45A2):c.147C>G (p.Tyr49Ter)	SLC45A2-related disorder [RCV004756631]	pathogenic	5	33984437	33984437	Human		name , trait , alternate_id
596942018	CV3543937	single nucleotide variant	NM_016180.5(SLC45A2):c.217G>T (p.Val73Leu)	not specified [RCV004799927]	uncertain significance	5	33984367	33984367	Human		name
597665397	CV3721879	deletion	NM_016180.5(SLC45A2):c.875del (p.Asn292fs)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005043282]	likely pathogenic	5	33963704	33963704	Human	1	name
597916469	CV3767689	single nucleotide variant	NM_016180.5(SLC45A2):c.1038G>A (p.Val346=)	not provided [RCV005114490]	likely benign	5	33951672	33951672	Human		name
597858458	CV3769633	single nucleotide variant	NM_016180.5(SLC45A2):c.1083C>G (p.Leu361=)	not provided [RCV005105675]	likely benign	5	33951627	33951627	Human		name
597877733	CV3776170	single nucleotide variant	NM_016180.5(SLC45A2):c.1497C>T (p.Asn499=)	not provided [RCV005123698]	likely benign	5	33944744	33944744	Human		name
597858467	CV3822395	single nucleotide variant	NM_016180.5(SLC45A2):c.1296T>C (p.Gly432=)	not provided [RCV005174693]	likely benign	5	33947235	33947235	Human		name
598124531	CV3885240	single nucleotide variant	NM_016180.5(SLC45A2):c.172C>G (p.Pro58Ala)	not specified [RCV005239817]	uncertain significance	5	33984412	33984412	Human		name
598215754	CV3891476	single nucleotide variant	NM_016180.5(SLC45A2):c.186C>G (p.Ser62Arg)	Oculocutaneous albinism type 4 [RCV005252318]	uncertain significance	5	33984398	33984398	Human	1	name
616934024	CV4012000	single nucleotide variant	NM_016180.5(SLC45A2):c.148G>A (p.Ala50Thr)	not specified [RCV005408550]	uncertain significance	5	33984436	33984436	Human		name
617154548	CV4022348	single nucleotide variant	NM_016180.5(SLC45A2):c.130G>A (p.Gly44Arg)	not provided [RCV005429704]	uncertain significance	5	33984454	33984454	Human		name
13214348	CV428412	single nucleotide variant	NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)	Oculocutaneous albinism type 4 [RCV001156458]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV004568639]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005034044]\|SLC45A2-related disorder [RCV003935314]\|not provided [RCV001764494]\|not specified [RCV ... (more) 000501160]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	33944723	33944723	Human	2	name , trait , alternate_id
13216265	CV428415	single nucleotide variant	NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)	Oculocutaneous albinism type 4 [RCV000503552]	pathogenic	5	33984374	33984374	Human	1	name
14979183	CV615949	single nucleotide variant	NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)	Oculocutaneous albinism type 4 [RCV000851386]\|not provided [RCV001855996]	likely pathogenic\|uncertain significance	5	33984393	33984393	Human	1	name
14979181	CV615950	single nucleotide variant	NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)	Oculocutaneous albinism type 4 [RCV000851385]	uncertain significance	5	33984397	33984397	Human	1	name
14979180	CV615951	single nucleotide variant	NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)	Oculocutaneous albinism type 4 [RCV000851384]	likely pathogenic	5	33984435	33984435	Human	1	name
15187164	CV699070	single nucleotide variant	NM_016180.5(SLC45A2):c.1044C>T (p.Arg348=)	not provided [RCV000953505]	likely benign	5	33951666	33951666	Human		name
15170082	CV735066	single nucleotide variant	NM_016180.5(SLC45A2):c.1272C>A (p.Thr424=)	not provided [RCV000905195]	likely benign	5	33947259	33947259	Human		name
15195466	CV749472	single nucleotide variant	NM_016180.5(SLC45A2):c.1503C>T (p.Ala501=)	not provided [RCV000911425]	likely benign	5	33944738	33944738	Human		name
25319042	CV816454	deletion	NM_016180.5(SLC45A2):c.870del (p.Asn290fs)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV001028049]	pathogenic\|likely pathogenic	5	33963709	33963709	Human	1	name
28904716	CV894094	single nucleotide variant	NM_016180.5(SLC45A2):c.1251C>G (p.Leu417=)	Oculocutaneous albinism type 4 [RCV001158116]\|not provided [RCV002070949]	likely benign\|uncertain significance	5	33947280	33947280	Human	1	name
28904726	CV894096	single nucleotide variant	NM_016180.5(SLC45A2):c.1233G>A (p.Gly411=)	Oculocutaneous albinism type 4 [RCV001158118]	uncertain significance	5	33947298	33947298	Human	1	name
28896784	CV894107	single nucleotide variant	NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro)	Oculocutaneous albinism type 4 [RCV001154786]	uncertain significance	5	33984297	33984297	Human	1	name
28896793	CV894109	single nucleotide variant	NM_016180.5(SLC45A2):c.161C>T (p.Ala54Val)	Oculocutaneous albinism type 4 [RCV001154789]	uncertain significance	5	33984423	33984423	Human	1	name
34890977	CV904463	single nucleotide variant	NM_016180.5(SLC45A2):c.1509C>T (p.Thr503=)	not provided [RCV001171841]	likely benign	5	33944732	33944732	Human		name
150552828	CV1307311	single nucleotide variant	NM_016180.5(SLC45A2):c.304C>T (p.Arg102Trp)	Oculocutaneous albinism type 4 [RCV005237982]\|not provided [RCV001768423]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	33984280	33984280	Human	1	name
150532202	CV1308443	single nucleotide variant	NM_016180.5(SLC45A2):c.593G>A (p.Gly198Asp)	not provided [RCV001757487]	conflicting interpretations of pathogenicity\|uncertain significance	5	33963986	33963986	Human	3	name
150532202	CV1308443	single nucleotide variant	NM_016180.5(SLC45A2):c.593G>A (p.Gly198Asp)	not provided [RCV001757487]	conflicting interpretations of pathogenicity\|uncertain significance	5	33963986	33963987	Human	3	name
150544962	CV1315355	single nucleotide variant	NM_016180.5(SLC45A2):c.478G>C (p.Asp160His)	Oculocutaneous albinism type 4 [RCV003323931]\|not provided [RCV001783770]	pathogenic\|likely pathogenic	5	33982320	33982320	Human	1	name
151349419	CV1325335	single nucleotide variant	NM_016180.5(SLC45A2):c.563G>T (p.Gly188Val)	Oculocutaneous albinism type 4 [RCV001814625]\|not provided [RCV003560859]	pathogenic\|not provided	5	33964016	33964016	Human	1	name
151829896	CV1343382	single nucleotide variant	NM_016180.5(SLC45A2):c.665C>G (p.Ser222Cys)	not provided [RCV001920389]	uncertain significance	5	33963914	33963914	Human		name
151799780	CV1343829	single nucleotide variant	NM_016180.5(SLC45A2):c.902T>C (p.Met301Thr)	Inborn genetic diseases [RCV002549002]\|not provided [RCV002027979]	uncertain significance	5	33954491	33954491	Human	1	name
151872512	CV1351637	single nucleotide variant	NM_016180.5(SLC45A2):c.662T>C (p.Phe221Ser)	not provided [RCV001998534]	uncertain significance	5	33963917	33963917	Human		name
151869065	CV1352914	duplication	NM_016180.5(SLC45A2):c.1305dup (p.Ser436fs)	not provided [RCV001906237]	pathogenic	5	33947225	33947226	Human		name
151749985	CV1357318	single nucleotide variant	NM_016180.5(SLC45A2):c.953G>A (p.Arg318His)	not provided [RCV001872159]	uncertain significance	5	33954440	33954440	Human		name
151775059	CV1362142	single nucleotide variant	NM_016180.5(SLC45A2):c.551C>T (p.Ala184Val)	not provided [RCV001950534]	uncertain significance	5	33982247	33982247	Human		name
151810298	CV1363120	single nucleotide variant	NM_016180.5(SLC45A2):c.846G>C (p.Glu282Asp)	not provided [RCV001991763]	uncertain significance	5	33963733	33963733	Human		name
151762308	CV1371953	single nucleotide variant	NM_016180.5(SLC45A2):c.892C>T (p.Arg298Cys)	not provided [RCV001987421]	uncertain significance	5	33954501	33954501	Human		name
151739634	CV1379411	single nucleotide variant	NM_016180.5(SLC45A2):c.893G>A (p.Arg298His)	not provided [RCV001911802]	uncertain significance	5	33954500	33954500	Human		name
151870936	CV1384575	single nucleotide variant	NM_016180.5(SLC45A2):c.305G>A (p.Arg102Gln)	Oculocutaneous albinism type 4 [RCV004785405]\|not provided [RCV001981291]	pathogenic\|likely pathogenic\|uncertain significance	5	33984279	33984279	Human	1	name
151720660	CV1396707	single nucleotide variant	NM_016180.5(SLC45A2):c.340C>T (p.Leu114Phe)	not provided [RCV001891046]	uncertain significance	5	33984244	33984244	Human		name
151719016	CV1397473	single nucleotide variant	NM_016180.5(SLC45A2):c.475A>T (p.Ile159Phe)	not provided [RCV001982762]	uncertain significance	5	33982323	33982323	Human		name
151801398	CV1405547	single nucleotide variant	NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002507011]\|not provided [RCV001899095]	uncertain significance	5	33984283	33984283	Human	1	name
151777511	CV1411745	single nucleotide variant	NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002482536]\|not provided [RCV001930117]	uncertain significance	5	33963786	33963786	Human	1	name
151757342	CV1414585	single nucleotide variant	NM_016180.5(SLC45A2):c.855G>T (p.Met285Ile)	not provided [RCV001894928]	uncertain significance	5	33963724	33963724	Human		name
151848263	CV1439822	single nucleotide variant	NM_016180.5(SLC45A2):c.403A>G (p.Arg135Gly)	not provided [RCV002016230]	uncertain significance	5	33982395	33982395	Human		name
151725551	CV1455711	single nucleotide variant	NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005042685]\|SLC45A2-related disorder [RCV003948872]\|not provided [RCV002020733]	pathogenic\|likely pathogenic\|uncertain significance	5	33984219	33984219	Human	2	name , trait , alternate_id
151817231	CV1456926	single nucleotide variant	NM_016180.5(SLC45A2):c.878A>G (p.His293Arg)	not provided [RCV001900531]	uncertain significance	5	33963701	33963701	Human		name
151853123	CV1459108	single nucleotide variant	NM_016180.5(SLC45A2):c.855G>A (p.Met285Ile)	not provided [RCV002016853]	uncertain significance	5	33963724	33963724	Human		name
151757335	CV1459743	single nucleotide variant	NM_016180.5(SLC45A2):c.343G>A (p.Val115Met)	not provided [RCV001986882]	uncertain significance	5	33984241	33984241	Human		name
151763774	CV1462147	single nucleotide variant	NM_016180.5(SLC45A2):c.709A>G (p.Ile237Val)	not provided [RCV001970483]	uncertain significance	5	33963870	33963870	Human		name
151836216	CV1489404	single nucleotide variant	NM_016180.5(SLC45A2):c.995T>C (p.Leu332Pro)	not provided [RCV001902322]	uncertain significance	5	33954398	33954398	Human		name
151779046	CV1496743	single nucleotide variant	NM_016180.5(SLC45A2):c.776C>T (p.Pro259Leu)	Inborn genetic diseases [RCV004042817]\|not provided [RCV001930256]	likely benign\|uncertain significance	5	33963803	33963803	Human	1	name
151716956	CV1513166	single nucleotide variant	NM_016180.5(SLC45A2):c.952C>T (p.Arg318Cys)	not provided [RCV001890478]	uncertain significance	5	33954441	33954441	Human		name
151766565	CV1516315	single nucleotide variant	NM_016180.5(SLC45A2):c.910A>C (p.Lys304Gln)	not provided [RCV002024947]	uncertain significance	5	33954483	33954483	Human		name
152050189	CV1533000	single nucleotide variant	NM_016180.5(SLC45A2):c.803A>G (p.Tyr268Cys)	not provided [RCV002166777]	likely benign	5	33963776	33963776	Human		name
152107858	CV1550694	single nucleotide variant	NM_016180.5(SLC45A2):c.904A>T (p.Thr302Ser)	not provided [RCV002152645]	benign	5	33954489	33954489	Human		name
155803259	CV1858020	single nucleotide variant	NM_016180.5(SLC45A2):c.471C>G (p.Asp157Glu)	not provided [RCV002461870]\|not specified [RCV004690296]	likely pathogenic\|uncertain significance	5	33982327	33982327	Human		name
156324890	CV1891007	single nucleotide variant	NM_016180.5(SLC45A2):c.421G>T (p.Ala141Ser)	not provided [RCV003089422]	uncertain significance	5	33982377	33982377	Human		name
156356619	CV1901108	single nucleotide variant	NM_016180.5(SLC45A2):c.760A>T (p.Thr254Ser)	Inborn genetic diseases [RCV002602209]\|not provided [RCV002588288]	uncertain significance	5	33963819	33963819	Human	1	name
156263502	CV1902845	single nucleotide variant	NM_016180.5(SLC45A2):c.665C>A (p.Ser222Tyr)	not provided [RCV003086526]	uncertain significance	5	33963914	33963914	Human		name
156407989	CV1911406	single nucleotide variant	NM_016180.5(SLC45A2):c.984G>C (p.Trp328Cys)	not provided [RCV002607076]	uncertain significance	5	33954409	33954409	Human		name
156035766	CV1921356	deletion	NM_016180.5(SLC45A2):c.1329del (p.Phe443fs)	not provided [RCV002620044]	pathogenic	5	33947202	33947202	Human		name
10051584	CV193634	single nucleotide variant	NM_016180.5(SLC45A2):c.619C>G (p.Leu207Val)	not provided [RCV000177290]	uncertain significance	5	33963960	33963960	Human		name
10048535	CV193635	single nucleotide variant	NM_016180.5(SLC45A2):c.856C>T (p.Gln286Ter)	not provided [RCV000177291]	pathogenic	5	33963723	33963723	Human		name
8558115	CV19542	single nucleotide variant	NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)	Oculocutaneous albinism type 4 [RCV000004761]\|not provided [RCV001781183]	pathogenic	5	33982329	33982329	Human	1	name
8558116	CV19543	single nucleotide variant	NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys)	Oculocutaneous albinism type 4 [RCV000354755]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV000004762]\|SLC45A2-related disorder [RCV003891429]\|not provided [RCV001514374]	pathogenic\|association\|benign\|likely benign	5	33963765	33963765	Human	2	name , trait , alternate_id
8558118	CV19545	deletion	NM_016180.5(SLC45A2):c.1121del (p.Leu374fs)	Oculocutaneous albinism type 4 [RCV000004764]\|not provided [RCV002512771]	pathogenic	5	33951589	33951589	Human	1	name
155968225	CV1967935	single nucleotide variant	NM_016180.5(SLC45A2):c.690T>A (p.Phe230Leu)	not provided [RCV002617055]	uncertain significance	5	33963889	33963889	Human		name
156397539	CV1985356	single nucleotide variant	NM_016180.5(SLC45A2):c.626G>A (p.Arg209Lys)	not provided [RCV002635651]	uncertain significance	5	33963953	33963953	Human		name
156403044	CV1993011	single nucleotide variant	NM_016180.5(SLC45A2):c.989C>G (p.Ala330Gly)	not provided [RCV002657770]	uncertain significance	5	33954404	33954404	Human		name
156405588	CV1994480	single nucleotide variant	NM_016180.5(SLC45A2):c.610C>T (p.His204Tyr)	not provided [RCV002658344]	uncertain significance	5	33963969	33963969	Human		name
156143040	CV2002848	single nucleotide variant	NM_016180.5(SLC45A2):c.757C>G (p.Gln253Glu)	not provided [RCV002663639]	uncertain significance	5	33963822	33963822	Human		name
156060432	CV2008234	single nucleotide variant	NM_016180.5(SLC45A2):c.893G>T (p.Arg298Leu)	Inborn genetic diseases [RCV004966040]\|not provided [RCV002705366]	uncertain significance	5	33954500	33954500	Human	1	name
156314723	CV2031818	single nucleotide variant	NM_016180.5(SLC45A2):c.703T>C (p.Cys235Arg)	not provided [RCV002716735]	uncertain significance	5	33963876	33963876	Human		name
156115319	CV2058448	single nucleotide variant	NM_016180.5(SLC45A2):c.806G>T (p.Gly269Val)	not provided [RCV002825084]\|not specified [RCV005239512]	uncertain significance	5	33963773	33963773	Human		name
155967644	CV2059041	single nucleotide variant	NM_016180.5(SLC45A2):c.376G>A (p.Val126Ile)	not provided [RCV002776584]	uncertain significance	5	33984208	33984208	Human		name
11350458	CV206560	deletion	NM_016180.5(SLC45A2):c.1273del (p.Leu425fs)	Oculocutaneous albinism type 4 [RCV000234810]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005031726]\|not provided [RCV003556240]	pathogenic	5	33947258	33947258	Human	2	name
156307174	CV2066998	single nucleotide variant	NM_016180.5(SLC45A2):c.769G>A (p.Asp257Asn)	not provided [RCV002833915]	uncertain significance	5	33963810	33963810	Human		name
156272344	CV2067256	single nucleotide variant	NM_016180.5(SLC45A2):c.740A>G (p.Lys247Arg)	not provided [RCV002856096]	uncertain significance	5	33963839	33963839	Human		name
10408341	CV207212	single nucleotide variant	NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg)	Oculocutaneous albinism type 4 [RCV000193320]	likely pathogenic	5	33964001	33964001	Human	1	name
155967475	CV2082855	single nucleotide variant	NM_016180.5(SLC45A2):c.785C>G (p.Ser262Ter)	not provided [RCV002881322]	pathogenic	5	33963794	33963794	Human		name
156098238	CV2103025	single nucleotide variant	NM_016180.5(SLC45A2):c.380T>C (p.Val127Ala)	not provided [RCV002913302]	uncertain significance	5	33984204	33984204	Human		name
156341223	CV2103210	single nucleotide variant	NM_016180.5(SLC45A2):c.448G>A (p.Val150Ile)	not provided [RCV002900489]	uncertain significance	5	33982350	33982350	Human		name
156327093	CV2116114	single nucleotide variant	NM_016180.5(SLC45A2):c.986C>G (p.Thr329Arg)	not provided [RCV002938150]	uncertain significance	5	33954407	33954407	Human		name
156298363	CV2159412	single nucleotide variant	NM_016180.5(SLC45A2):c.376G>C (p.Val126Leu)	not provided [RCV003045432]	uncertain significance	5	33984208	33984208	Human		name
156124402	CV2185503	single nucleotide variant	NM_016180.5(SLC45A2):c.504T>A (p.Phe168Leu)	not provided [RCV003055593]	uncertain significance	5	33982294	33982294	Human		name
156089587	CV2259135	single nucleotide variant	NM_016180.5(SLC45A2):c.869A>G (p.Asn290Ser)	Inborn genetic diseases [RCV002798422]	uncertain significance	5	33963710	33963710	Human	1	name
156129784	CV2279724	single nucleotide variant	NM_016180.5(SLC45A2):c.497A>G (p.Tyr166Cys)	Inborn genetic diseases [RCV002849616]\|SLC45A2-related disorder [RCV003900899]\|not provided [RCV005099750]	likely pathogenic\|uncertain significance	5	33982301	33982301	Human	2	name , trait , alternate_id
156020012	CV2367046	single nucleotide variant	NM_016180.5(SLC45A2):c.743G>A (p.Gly248Asp)	Inborn genetic diseases [RCV002998615]	likely benign	5	33963836	33963836	Human	1	name
11580940	CV271025	single nucleotide variant	NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)	Oculocutaneous albinism type 4 [RCV004786654]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005044540]\|not provided [RCV000349343]	pathogenic\|likely pathogenic	5	33963745	33963745	Human	4	name
11580940	CV271025	single nucleotide variant	NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)	Oculocutaneous albinism type 4 [RCV004786654]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005044540]\|not provided [RCV000349343]	pathogenic\|likely pathogenic	5	33963745	33963746	Human	4	name
401862956	CV2775380	single nucleotide variant	NM_016180.5(SLC45A2):c.600A>G (p.Ile200Met)	Inborn genetic diseases [RCV003343459]	uncertain significance	5	33963979	33963979	Human	1	name
401919135	CV2794772	single nucleotide variant	NM_016180.5(SLC45A2):c.328G>C (p.Gly110Arg)	not specified [RCV003388447]	uncertain significance	5	33984256	33984256	Human		name
405045410	CV2859695	single nucleotide variant	NM_016180.5(SLC45A2):c.823A>T (p.Lys275Ter)	not provided [RCV003579300]	pathogenic	5	33963756	33963756	Human		name
405229028	CV2894731	single nucleotide variant	NM_016180.5(SLC45A2):c.844G>T (p.Glu282Ter)	not provided [RCV003555177]	pathogenic	5	33963735	33963735	Human		name
405229035	CV2894732	single nucleotide variant	NM_016180.5(SLC45A2):c.686G>A (p.Cys229Tyr)	not provided [RCV003555178]\|not specified [RCV005240825]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	33963893	33963893	Human		name
405230131	CV2894733	single nucleotide variant	NM_016180.5(SLC45A2):c.563G>A (p.Gly188Asp)	not provided [RCV003555179]\|not specified [RCV005407185]	likely pathogenic\|uncertain significance	5	33964016	33964016	Human		name
405229049	CV2894734	single nucleotide variant	NM_016180.5(SLC45A2):c.298G>A (p.Gly100Ser)	not provided [RCV003555180]\|not specified [RCV004801366]	uncertain significance	5	33984286	33984286	Human		name
405127361	CV2957115	deletion	NM_016180.5(SLC45A2):c.1014del (p.Phe338fs)	not provided [RCV003672086]	pathogenic	5	33954379	33954379	Human		name
405133386	CV2957767	deletion	NM_016180.5(SLC45A2):c.1048del (p.Asp350fs)	not provided [RCV003672605]	pathogenic	5	33951662	33951662	Human		name
405214378	CV2981388	single nucleotide variant	NM_016180.5(SLC45A2):c.798C>A (p.Tyr266Ter)	Oculocutaneous albinism type 4 [RCV005356493]\|not provided [RCV003709120]	pathogenic\|likely pathogenic	5	33963781	33963781	Human	1	name
405254897	CV3000011	deletion	NM_016180.5(SLC45A2):c.1435del (p.Leu479fs)	Oculocutaneous albinism type 4 [RCV004596604]\|not provided [RCV003723219]	pathogenic\|likely pathogenic	5	33944806	33944806	Human	1	name
405249066	CV3003918	deletion	NM_016180.5(SLC45A2):c.1418del (p.Gly473fs)	not provided [RCV003721261]	pathogenic	5	33944823	33944823	Human		name
402503499	CV3007174	single nucleotide variant	NM_016180.5(SLC45A2):c.546C>A (p.Tyr182Ter)	not provided [RCV003688741]	pathogenic	5	33982252	33982252	Human		name
405229154	CV3075484	single nucleotide variant	NM_016180.5(SLC45A2):c.886C>T (p.Gln296Ter)	not provided [RCV003734593]	pathogenic	5	33963693	33963693	Human		name
405256321	CV3222591	single nucleotide variant	NM_016180.5(SLC45A2):c.301C>G (p.Arg101Gly)	Oculocutaneous albinism type 4 [RCV003986096]	uncertain significance	5	33984283	33984283	Human	1	name
405710810	CV3329367	single nucleotide variant	NM_016180.5(SLC45A2):c.872A>G (p.Lys291Arg)	Inborn genetic diseases [RCV004461756]	uncertain significance	5	33963707	33963707	Human	1	name
407426668	CV3411468	single nucleotide variant	NM_016180.5(SLC45A2):c.977T>A (p.Ile326Asn)	Oculocutaneous albinism type 4 [RCV005407322]\|not provided [RCV004590646]	likely pathogenic\|uncertain significance	5	33954416	33954416	Human	1	name
407515002	CV3484710	single nucleotide variant	NM_016180.5(SLC45A2):c.611A>T (p.His204Leu)	Inborn genetic diseases [RCV004674772]	uncertain significance	5	33963968	33963968	Human	1	name
597627123	CV3596699	single nucleotide variant	NM_016180.5(SLC45A2):c.937A>C (p.Met313Leu)	Inborn genetic diseases [RCV004966353]	uncertain significance	5	33954456	33954456	Human	1	name
597627125	CV3596700	single nucleotide variant	NM_016180.5(SLC45A2):c.835G>A (p.Val279Ile)	Inborn genetic diseases [RCV004966354]	uncertain significance	5	33963744	33963744	Human	1	name
597719381	CV3721878	single nucleotide variant	NM_016180.5(SLC45A2):c.941C>T (p.Pro314Leu)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005035609]	uncertain significance	5	33954452	33954452	Human	1	name
597951024	CV3765311	duplication	NM_016180.5(SLC45A2):c.1315dup (p.Tyr439fs)	not provided [RCV005120955]	pathogenic	5	33947215	33947216	Human		name
597887916	CV3839134	deletion	NM_016180.5(SLC45A2):c.1484del (p.Gly495fs)	not provided [RCV005179219]	pathogenic	5	33944757	33944757	Human		name
597890564	CV3860009	single nucleotide variant	NM_016180.5(SLC45A2):c.328G>A (p.Gly110Arg)	not provided [RCV005200480]	pathogenic	5	33984256	33984256	Human		name
598123228	CV3890252	single nucleotide variant	NM_016180.5(SLC45A2):c.436A>C (p.Met146Leu)	not provided [RCV005250771]	uncertain significance	5	33982362	33982362	Human		name
598223696	CV3892114	single nucleotide variant	NM_016180.5(SLC45A2):c.302G>A (p.Arg101His)	Oculocutaneous albinism type 4 [RCV005253454]	likely pathogenic	5	33984282	33984282	Human	1	name
598244628	CV3911241	single nucleotide variant	NM_016180.5(SLC45A2):c.754C>G (p.Gln252Glu)	Inborn genetic diseases [RCV005276883]	uncertain significance	5	33963825	33963825	Human	1	name
598244641	CV3911243	single nucleotide variant	NM_016180.5(SLC45A2):c.985A>G (p.Thr329Ala)	Inborn genetic diseases [RCV005276885]	uncertain significance	5	33954408	33954408	Human	1	name
598237360	CV3911244	single nucleotide variant	NM_016180.5(SLC45A2):c.641A>C (p.Glu214Ala)	Inborn genetic diseases [RCV005275640]	uncertain significance	5	33963938	33963938	Human	1	name
616938352	CV4014924	single nucleotide variant	NM_016180.5(SLC45A2):c.467C>T (p.Ala156Val)	not provided [RCV005411940]	uncertain significance	5	33982331	33982331	Human		name
13509272	CV481739	single nucleotide variant	NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002491149]\|not provided [RCV000579325]	pathogenic	5	33954436	33954436	Human	1	name
13532621	CV511595	single nucleotide variant	NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)	Albinism or congenital nystagmus [RCV005253000]\|Inborn genetic diseases [RCV000624371]\|Oculocutaneous albinism type 4 [RCV001093591]\|SLC45A2-related disorder [RCV004755990]\|not provided [RCV000729767]	pathogenic\|likely pathogenic\|uncertain significance	5	33963973	33963973	Human	2	name , trait , alternate_id
13531912	CV511596	single nucleotide variant	NM_016180.5(SLC45A2):c.454T>C (p.Phe152Leu)	Inborn genetic diseases [RCV000623743]\|Oculocutaneous albinism type 4 [RCV005407815]\|SLC45A2-related disorder [RCV004755989]\|not provided [RCV003727783]	likely pathogenic\|uncertain significance	5	33982344	33982344	Human	2	name , trait , alternate_id
15142392	CV735067	single nucleotide variant	NM_016180.5(SLC45A2):c.953G>T (p.Arg318Leu)	not provided [RCV000899666]	likely benign\|conflicting interpretations of pathogenicity	5	33954440	33954440	Human		name
28880761	CV859423	single nucleotide variant	NM_016180.5(SLC45A2):c.611A>G (p.His204Arg)	not provided [RCV001090993]	uncertain significance	5	33963968	33963968	Human		name
28880768	CV859424	single nucleotide variant	NM_016180.5(SLC45A2):c.443G>A (p.Gly148Asp)	not provided [RCV001090994]	uncertain significance	5	33982355	33982355	Human		name
28891077	CV894099	single nucleotide variant	NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile)	Oculocutaneous albinism type 4 [RCV001152650]	uncertain significance	5	33954407	33954407	Human	1	name
28894520	CV894100	single nucleotide variant	NM_016180.5(SLC45A2):c.799G>A (p.Glu267Lys)	Oculocutaneous albinism type 4 [RCV001153933]\|not provided [RCV002032418]	uncertain significance	5	33963780	33963780	Human	1	name
28894526	CV894101	single nucleotide variant	NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu)	Oculocutaneous albinism type 4 [RCV001153934]	uncertain significance	5	33963806	33963806	Human	1	name
28894529	CV894102	single nucleotide variant	NM_016180.5(SLC45A2):c.602A>G (p.Asp201Gly)	Oculocutaneous albinism type 4 [RCV001153935]\|not provided [RCV001882478]	uncertain significance	5	33963977	33963977	Human	1	name
28896780	CV894106	single nucleotide variant	NM_016180.5(SLC45A2):c.310C>T (p.Pro104Ser)	Oculocutaneous albinism type 4 [RCV001154785]\|not provided [RCV001859014]	likely pathogenic\|uncertain significance	5	33984274	33984274	Human	1	name
126761116	CV990937	single nucleotide variant	NM_016180.5(SLC45A2):c.377T>A (p.Val126Asp)	not provided [RCV001309506]	uncertain significance	5	33984207	33984207	Human		name
150550702	CV1307321	single nucleotide variant	NM_016180.5(SLC45A2):c.1567G>A (p.Ala523Thr)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005038309]\|not provided [RCV001753356]	uncertain significance	5	33944674	33944674	Human	1	name
151356471	CV1329235	single nucleotide variant	NM_016180.5(SLC45A2):c.1244T>C (p.Ile415Thr)	SLC45A2-related disorder [RCV003416483]\|not provided [RCV001869778]\|not specified [RCV001822824]	uncertain significance	5	33947287	33947287	Human	1	name , trait , alternate_id
151354228	CV1329361	single nucleotide variant	NM_016180.5(SLC45A2):c.1109G>A (p.Gly370Glu)	not specified [RCV001817724]	uncertain significance	5	33951601	33951601	Human		name
151778342	CV1337085	single nucleotide variant	NM_016180.5(SLC45A2):c.1102G>A (p.Glu368Lys)	Oculocutaneous albinism type 4 [RCV004770365]\|not provided [RCV002026018]	likely pathogenic\|uncertain significance	5	33951608	33951608	Human	1	name
151870979	CV1371916	single nucleotide variant	NM_016180.5(SLC45A2):c.1522G>T (p.Val508Leu)	not provided [RCV001960417]	uncertain significance	5	33944719	33944719	Human		name
151855543	CV1376125	single nucleotide variant	NM_016180.5(SLC45A2):c.1135G>A (p.Val379Met)	not provided [RCV002033722]	uncertain significance	5	33951575	33951575	Human		name
151815863	CV1378721	single nucleotide variant	NM_016180.5(SLC45A2):c.1264T>C (p.Tyr422His)	Inborn genetic diseases [RCV004968405]\|not provided [RCV001900403]	uncertain significance	5	33947267	33947267	Human	1	name
151877131	CV1390443	single nucleotide variant	NM_016180.5(SLC45A2):c.1435C>G (p.Leu479Val)	not provided [RCV001940537]	uncertain significance	5	33944806	33944806	Human		name
151871188	CV1392542	single nucleotide variant	NM_016180.5(SLC45A2):c.1460A>T (p.Gln487Leu)	not provided [RCV001925239]	uncertain significance	5	33944781	33944781	Human		name
151789580	CV1396991	single nucleotide variant	NM_016180.5(SLC45A2):c.1439C>T (p.Thr480Ile)	not provided [RCV001951918]	uncertain significance	5	33944802	33944802	Human		name
151882368	CV1398843	single nucleotide variant	NM_016180.5(SLC45A2):c.1379C>T (p.Ala460Val)	Inborn genetic diseases [RCV004040325]\|not provided [RCV001961907]	uncertain significance	5	33944862	33944862	Human	1	name
151774068	CV1402297	single nucleotide variant	NM_016180.5(SLC45A2):c.1538C>A (p.Ala513Glu)	not provided [RCV001929804]	pathogenic\|uncertain significance	5	33944703	33944703	Human		name
151865410	CV1406098	single nucleotide variant	NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002503657]\|not provided [RCV001959764]	uncertain significance	5	33944671	33944671	Human	1	name
151772075	CV1410985	single nucleotide variant	NM_016180.5(SLC45A2):c.1196G>C (p.Gly399Ala)	not provided [RCV001971280]	uncertain significance	5	33947335	33947335	Human		name
151864708	CV1416573	single nucleotide variant	NM_016180.5(SLC45A2):c.1519G>A (p.Val507Met)	not provided [RCV001997586]	uncertain significance	5	33944722	33944722	Human		name
151887361	CV1426768	single nucleotide variant	NM_016180.5(SLC45A2):c.1247G>A (p.Gly416Glu)	Oculocutaneous albinism type 4 [RCV005238165]\|not provided [RCV002038172]	likely pathogenic\|uncertain significance	5	33947284	33947284	Human	1	name
151754579	CV1429647	single nucleotide variant	NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro)	Oculocutaneous albinism type 4 [RCV003235634]\|not provided [RCV002007200]	pathogenic	5	33947251	33947251	Human	1	name
151867921	CV1429649	single nucleotide variant	NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu)	Oculocutaneous albinism type 4 [RCV004587269]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005031988]\|SLC45A2-related disorder [RCV004756328]\|not provided [RCV002035290]	pathogenic\|likely pathogenic	5	33947275	33947275	Human	2	name , trait , alternate_id
151767798	CV1434095	single nucleotide variant	NM_016180.5(SLC45A2):c.1208C>G (p.Thr403Arg)	not provided [RCV001874144]	uncertain significance	5	33947323	33947323	Human		name
151795184	CV1434420	single nucleotide variant	NM_016180.5(SLC45A2):c.1336A>G (p.Ile446Val)	not provided [RCV001866616]	uncertain significance	5	33947195	33947195	Human		name
151810450	CV1460185	single nucleotide variant	NM_016180.5(SLC45A2):c.1031A>G (p.Gln344Arg)	not provided [RCV002048807]	uncertain significance	5	33954362	33954362	Human		name
151716919	CV1465027	single nucleotide variant	NM_016180.5(SLC45A2):c.1096G>A (p.Gly366Arg)	not provided [RCV002003065]	uncertain significance	5	33951614	33951614	Human		name
151830053	CV1466023	single nucleotide variant	NM_016180.5(SLC45A2):c.1510G>A (p.Val504Ile)	not provided [RCV002050636]	uncertain significance	5	33944731	33944731	Human		name
151888795	CV1468480	single nucleotide variant	NM_016180.5(SLC45A2):c.1058G>A (p.Ser353Asn)	not provided [RCV002001157]	uncertain significance	5	33951652	33951652	Human		name
151836693	CV1469259	single nucleotide variant	NM_016180.5(SLC45A2):c.1354G>A (p.Glu452Lys)	Inborn genetic diseases [RCV004671456]\|not provided [RCV002051289]	uncertain significance	5	33947177	33947177	Human	1	name
151718385	CV1469320	single nucleotide variant	NM_016180.5(SLC45A2):c.1417G>A (p.Gly473Ser)	not provided [RCV002039687]	uncertain significance	5	33944824	33944824	Human		name
151855381	CV1473820	single nucleotide variant	NM_016180.5(SLC45A2):c.1295G>A (p.Gly432Asp)	not provided [RCV001904622]	uncertain significance	5	33947236	33947236	Human		name
151861345	CV1483187	single nucleotide variant	NM_016180.5(SLC45A2):c.1018G>A (p.Asp340Asn)	not provided [RCV001883956]	uncertain significance	5	33954375	33954375	Human		name
151881586	CV1484267	single nucleotide variant	NM_016180.5(SLC45A2):c.1381C>T (p.Pro461Ser)	not provided [RCV001941123]	uncertain significance	5	33944860	33944860	Human		name
151837977	CV1487304	single nucleotide variant	NM_016180.5(SLC45A2):c.1405G>A (p.Val469Met)	not provided [RCV001935763]	uncertain significance	5	33944836	33944836	Human		name
151771791	CV1502718	single nucleotide variant	NM_016180.5(SLC45A2):c.1415A>G (p.Lys472Arg)	not provided [RCV001896411]	uncertain significance	5	33944826	33944826	Human		name
151758308	CV1509117	single nucleotide variant	NM_016180.5(SLC45A2):c.1378G>A (p.Ala460Thr)	Inborn genetic diseases [RCV004970810]\|not provided [RCV002024075]	uncertain significance	5	33944863	33944863	Human	1	name
151796833	CV1512747	single nucleotide variant	NM_016180.5(SLC45A2):c.1463T>G (p.Ile488Ser)	not provided [RCV001866759]	uncertain significance	5	33944778	33944778	Human		name
151889720	CV1516369	single nucleotide variant	NM_016180.5(SLC45A2):c.1528A>G (p.Thr510Ala)	Inborn genetic diseases [RCV005281112]\|not provided [RCV002038657]	uncertain significance	5	33944713	33944713	Human	1	name
156057085	CV1892119	single nucleotide variant	NM_016180.5(SLC45A2):c.1043G>C (p.Arg348Pro)	not provided [RCV003079085]	uncertain significance	5	33951667	33951667	Human		name
156318320	CV1900102	single nucleotide variant	NM_016180.5(SLC45A2):c.1259A>G (p.Asn420Ser)	not provided [RCV003088848]	uncertain significance	5	33947272	33947272	Human		name
156023124	CV1920007	single nucleotide variant	NM_016180.5(SLC45A2):c.1550T>C (p.Ile517Thr)	not provided [RCV002619497]	uncertain significance	5	33944691	33944691	Human		name
156364768	CV1934905	single nucleotide variant	NM_016180.5(SLC45A2):c.1532C>A (p.Ala511Glu)	not provided [RCV002651884]	pathogenic	5	33944709	33944709	Human		name
156364785	CV1934906	single nucleotide variant	NM_016180.5(SLC45A2):c.1504G>A (p.Gly502Arg)	not provided [RCV002651885]	likely pathogenic\|uncertain significance	5	33944737	33944737	Human		name
156164091	CV1934907	single nucleotide variant	NM_016180.5(SLC45A2):c.1418G>A (p.Gly473Asp)	not provided [RCV002664358]	uncertain significance	5	33944823	33944823	Human		name
156164121	CV1934908	single nucleotide variant	NM_016180.5(SLC45A2):c.1045G>A (p.Gly349Arg)	not provided [RCV002664359]	pathogenic	5	33951665	33951665	Human		name
10052198	CV194469	single nucleotide variant	NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005042387]\|not provided [RCV000178306]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	33954361	33954361	Human	1	name
156447245	CV1944888	single nucleotide variant	NM_016180.5(SLC45A2):c.1268C>T (p.Ser423Phe)	not provided [RCV003118772]	uncertain significance	5	33947263	33947263	Human		name
10048889	CV194990	single nucleotide variant	NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe)	Oculocutaneous albinism type 4 [RCV001808456]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002500506]\|not provided [RCV001519776]\|not specified [RCV000178963]	benign	5	33951588	33951588	Human	23	name
156242261	CV1953050	single nucleotide variant	NM_016180.5(SLC45A2):c.1255C>A (p.Pro419Thr)	not provided [RCV002576261]\|not specified [RCV005239448]	uncertain significance	5	33947276	33947276	Human		name
8558111	CV19538	single nucleotide variant	NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)	Oculocutaneous albinism type 4 [RCV000004757]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005041981]\|SLC45A2-related disorder [RCV004755709]\|not provided [RCV000178964]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	33951628	33951628	Human	2	name , trait , alternate_id
8558114	CV19541	single nucleotide variant	NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val)	Oculocutaneous albinism type 4 [RCV000004760]\|not provided [RCV001851652]\|not specified [RCV005237352]	pathogenic\|likely pathogenic\|uncertain significance	5	33944784	33944784	Human	1	name
156265952	CV1973869	single nucleotide variant	NM_016180.5(SLC45A2):c.1344G>C (p.Glu448Asp)	not provided [RCV002597935]	uncertain significance	5	33947187	33947187	Human		name
156346055	CV1989110	single nucleotide variant	NM_016180.5(SLC45A2):c.1183A>T (p.Ile395Phe)	not provided [RCV002631687]	uncertain significance	5	33947348	33947348	Human		name
156105258	CV1992201	single nucleotide variant	NM_016180.5(SLC45A2):c.1078T>A (p.Phe360Ile)	not provided [RCV002622362]	uncertain significance	5	33951632	33951632	Human		name
156214836	CV1997369	single nucleotide variant	NM_016180.5(SLC45A2):c.1555T>C (p.Cys519Arg)	not provided [RCV002666987]	likely pathogenic	5	33944686	33944686	Human		name
156011494	CV2011500	single nucleotide variant	NM_016180.5(SLC45A2):c.1463T>C (p.Ile488Thr)	not provided [RCV002690538]	uncertain significance	5	33944778	33944778	Human		name
156194718	CV2018093	single nucleotide variant	NM_016180.5(SLC45A2):c.1579A>G (p.Arg527Gly)	not provided [RCV002700073]	uncertain significance	5	33944662	33944662	Human		name
156082849	CV2050341	single nucleotide variant	NM_016180.5(SLC45A2):c.1318A>C (p.Thr440Pro)	not provided [RCV002823910]	uncertain significance	5	33947213	33947213	Human		name
10404521	CV207211	single nucleotide variant	NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV000765837]\|not provided [RCV002517978]\|not specified [RCV000195273]	likely pathogenic\|uncertain significance	5	33947206	33947206	Human	1	name
156110294	CV2092847	single nucleotide variant	NM_016180.5(SLC45A2):c.1043G>A (p.Arg348His)	not provided [RCV002913748]	uncertain significance	5	33951667	33951667	Human		name
156348040	CV2128895	single nucleotide variant	NM_016180.5(SLC45A2):c.1099G>A (p.Val367Ile)	not provided [RCV002966086]\|not specified [RCV004801259]	uncertain significance	5	33951611	33951611	Human		name
156167723	CV2133446	single nucleotide variant	NM_016180.5(SLC45A2):c.1049A>G (p.Asp350Gly)	not provided [RCV003005290]	uncertain significance	5	33951661	33951661	Human		name
150557221	CV213559	single nucleotide variant	NM_016180.5(SLC45A2):c.1454T>C (p.Leu485Pro)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005044485]\|not provided [RCV001775706]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	33944787	33944787	Human	1	name
156025397	CV2139144	single nucleotide variant	NM_016180.5(SLC45A2):c.1390G>T (p.Asp464Tyr)	not provided [RCV002998892]	uncertain significance	5	33944851	33944851	Human		name
156183531	CV2151937	single nucleotide variant	NM_016180.5(SLC45A2):c.1592A>G (p.Ter531Trp)	not provided [RCV003005783]	uncertain significance	5	33944649	33944649	Human		name
155933913	CV2153349	single nucleotide variant	NM_016180.5(SLC45A2):c.1289T>C (p.Leu430Pro)	not provided [RCV003013798]	uncertain significance	5	33947242	33947242	Human		name
156340355	CV2174810	single nucleotide variant	NM_016180.5(SLC45A2):c.1450C>T (p.Gln484Ter)	not provided [RCV003047705]	pathogenic	5	33944791	33944791	Human		name
156126556	CV2185681	single nucleotide variant	NM_016180.5(SLC45A2):c.1253T>A (p.Phe418Tyr)	not provided [RCV003055673]	uncertain significance	5	33947278	33947278	Human		name
156376346	CV2191129	single nucleotide variant	NM_016180.5(SLC45A2):c.1319C>T (p.Thr440Ile)	not provided [RCV003050133]	uncertain significance	5	33947212	33947212	Human		name
156175948	CV2299727	single nucleotide variant	NM_016180.5(SLC45A2):c.1016C>G (p.Thr339Arg)	Inborn genetic diseases [RCV002891677]	uncertain significance	5	33954377	33954377	Human	1	name
243049768	CV2417149	single nucleotide variant	NM_016180.5(SLC45A2):c.1145C>T (p.Ser382Leu)	not provided [RCV003152020]	uncertain significance	5	33951565	33951565	Human		name
11632863	CV266457	single nucleotide variant	NM_016180.5(SLC45A2):c.1152T>G (p.Tyr384Ter)	not provided [RCV000292085]	pathogenic	5	33951558	33951558	Human		name
329954816	CV2670748	single nucleotide variant	NM_016180.5(SLC45A2):c.1445T>G (p.Met482Arg)	Inborn genetic diseases [RCV004963604]\|not provided [RCV003236016]	uncertain significance	5	33944796	33944796	Human	1	name
11644050	CV268642	single nucleotide variant	NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His)	Oculocutaneous albinism type 4 [RCV001156460]\|not provided [RCV000725449]\|not specified [RCV000404080]	uncertain significance	5	33947179	33947179	Human	1	name
11643852	CV271026	single nucleotide variant	NM_016180.5(SLC45A2):c.1016C>T (p.Thr339Ile)	Inborn genetic diseases [RCV002519262]\|not provided [RCV000401762]	uncertain significance	5	33954377	33954377	Human	1	name
401855068	CV2752743	single nucleotide variant	NM_016180.5(SLC45A2):c.1182C>G (p.Tyr394Ter)	Oculocutaneous albinism type 4 [RCV003337797]	likely pathogenic	5	33947349	33947349	Human	1	name
405207095	CV2873911	single nucleotide variant	NM_016180.5(SLC45A2):c.1347C>G (p.Tyr449Ter)	not provided [RCV003551984]	pathogenic	5	33947184	33947184	Human		name
405136845	CV2907078	single nucleotide variant	NM_016180.5(SLC45A2):c.1428C>A (p.Cys476Ter)	not provided [RCV003560518]	pathogenic	5	33944813	33944813	Human		name
11653627	CV299306	single nucleotide variant	NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys)	Oculocutaneous albinism type 4 [RCV000312376]\|not provided [RCV002520367]	uncertain significance	5	33951620	33951620	Human	1	name
11652693	CV303722	single nucleotide variant	NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys)	Oculocutaneous albinism type 4 [RCV000306672]\|not provided [RCV001764317]	uncertain significance	5	33947180	33947180	Human	1	name
405291329	CV3222317	single nucleotide variant	NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)	Oculocutaneous albinism type 4 [RCV003985199]	pathogenic	5	33947265	33947265	Human	1	name
405256320	CV3222590	single nucleotide variant	NM_016180.5(SLC45A2):c.1304C>A (p.Ser435Tyr)	Oculocutaneous albinism type 4 [RCV003986095]	uncertain significance	5	33947227	33947227	Human	1	name
405710793	CV3329364	single nucleotide variant	NM_016180.5(SLC45A2):c.1447G>C (p.Val483Leu)	Inborn genetic diseases [RCV004461753]	uncertain significance	5	33944794	33944794	Human	1	name
407428242	CV3410142	single nucleotide variant	NM_016180.5(SLC45A2):c.1429G>A (p.Ala477Thr)	Oculocutaneous albinism type 4 [RCV005254919]\|not specified [RCV004587749]	likely pathogenic\|uncertain significance	5	33944812	33944812	Human	1	name
407514999	CV3484709	single nucleotide variant	NM_016180.5(SLC45A2):c.1576G>A (p.Val526Ile)	Inborn genetic diseases [RCV004674771]	uncertain significance	5	33944665	33944665	Human	1	name
407475264	CV3494657	single nucleotide variant	NM_016180.5(SLC45A2):c.1004T>G (p.Met335Arg)	not specified [RCV004690556]	uncertain significance	5	33954389	33954389	Human		name
407472374	CV3495264	single nucleotide variant	NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)	Oculocutaneous albinism type 4 [RCV004689540]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV004796878]\|SLC45A2-related disorder [RCV004756575]	pathogenic\|likely pathogenic	5	33944785	33944785	Human	2	name , trait , alternate_id
407574252	CV3498625	single nucleotide variant	NM_016180.5(SLC45A2):c.1531G>A (p.Ala511Thr)	not specified [RCV004703101]	uncertain significance	5	33944710	33944710	Human		name
408365362	CV3499833	single nucleotide variant	NM_016180.5(SLC45A2):c.1214A>G (p.Tyr405Cys)	not provided [RCV004721875]\|not specified [RCV005241022]	uncertain significance	5	33947317	33947317	Human		name
408382570	CV3525685	single nucleotide variant	NM_016180.5(SLC45A2):c.1502C>A (p.Ala501Asp)	not specified [RCV004766595]	uncertain significance	5	33944739	33944739	Human		name
596928056	CV3541347	single nucleotide variant	NM_016180.5(SLC45A2):c.1318A>G (p.Thr440Ala)	Oculocutaneous albinism type 4 [RCV004797218]	likely pathogenic	5	33947213	33947213	Human	1	name
597651384	CV3552002	single nucleotide variant	NM_016180.5(SLC45A2):c.1237G>A (p.Gly413Arg)	not provided [RCV004820715]	uncertain significance	5	33947294	33947294	Human		name
597627121	CV3596698	single nucleotide variant	NM_016180.5(SLC45A2):c.1366G>A (p.Glu456Lys)	Inborn genetic diseases [RCV004966352]	uncertain significance	5	33947165	33947165	Human	1	name
597665389	CV3721874	single nucleotide variant	NM_016180.5(SLC45A2):c.1316A>C (p.Tyr439Ser)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005043281]	uncertain significance	5	33947215	33947215	Human	1	name
597719353	CV3721875	single nucleotide variant	NM_016180.5(SLC45A2):c.1194G>C (p.Lys398Asn)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005035606]	uncertain significance	5	33947337	33947337	Human	1	name
597719372	CV3721877	single nucleotide variant	NM_016180.5(SLC45A2):c.1036G>T (p.Val346Leu)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005035608]	likely pathogenic	5	33951674	33951674	Human	1	name
597848682	CV3736856	single nucleotide variant	NM_016180.5(SLC45A2):c.1370G>A (p.Arg457Lys)	not provided [RCV005066015]	uncertain significance	5	33944871	33944871	Human		name
597968633	CV3820992	single nucleotide variant	NM_016180.5(SLC45A2):c.1041C>G (p.Tyr347Ter)	not provided [RCV005165833]	pathogenic	5	33951669	33951669	Human		name
598232726	CV3886464	single nucleotide variant	NM_016180.5(SLC45A2):c.1556G>A (p.Cys519Tyr)	Oculocutaneous albinism type 4 [RCV005255908]	uncertain significance	5	33944685	33944685	Human	1	name
598244635	CV3911242	single nucleotide variant	NM_016180.5(SLC45A2):c.1477G>A (p.Gly493Ser)	Inborn genetic diseases [RCV005276884]	uncertain significance	5	33944764	33944764	Human	1	name
598244647	CV3911245	single nucleotide variant	NM_016180.5(SLC45A2):c.1310C>G (p.Thr437Ser)	Inborn genetic diseases [RCV005276886]	uncertain significance	5	33947221	33947221	Human	1	name
598244654	CV3911246	single nucleotide variant	NM_016180.5(SLC45A2):c.1543G>A (p.Ala515Thr)	Inborn genetic diseases [RCV005276887]	uncertain significance	5	33944698	33944698	Human	1	name
13214222	CV428414	single nucleotide variant	NM_016180.5(SLC45A2):c.1225G>A (p.Gly409Ser)	not specified [RCV000500999]	uncertain significance	5	33947306	33947306	Human		name
14393344	CV609202	single nucleotide variant	NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val)	Nonsyndromic Oculocutaneous Albinism [RCV000755098]\|not provided [RCV001592939]	likely pathogenic\|conflicting interpretations of pathogenicity	5	33944709	33944709	Human	1	name
21069070	CV795692	single nucleotide variant	NM_016180.5(SLC45A2):c.1051C>A (p.Pro351Thr)	not provided [RCV000998364]	uncertain significance	5	33951659	33951659	Human		name
28900911	CV894092	single nucleotide variant	NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)	Oculocutaneous albinism type 4 [RCV001156457]\|not provided [RCV001316603]	conflicting interpretations of pathogenicity\|uncertain significance	5	33944722	33944722	Human	1	name
28900913	CV894093	single nucleotide variant	NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile)	Oculocutaneous albinism type 4 [RCV001156459]\|not provided [RCV001343886]	uncertain significance	5	33944725	33944725	Human	1	name
28904720	CV894095	single nucleotide variant	NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met)	Oculocutaneous albinism type 4 [RCV001158117]\|not provided [RCV002558391]	uncertain significance	5	33947296	33947296	Human	1	name
28904730	CV894097	single nucleotide variant	NM_016180.5(SLC45A2):c.1208C>T (p.Thr403Met)	Oculocutaneous albinism type 4 [RCV001158119]\|not provided [RCV001859030]	uncertain significance	5	33947323	33947323	Human	1	name
28891074	CV894098	single nucleotide variant	NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)	Oculocutaneous albinism type 4 [RCV001152649]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV002491442]\|not provided [RCV002557292]	uncertain significance	5	33951668	33951668	Human	2	name
40903143	CV976751	single nucleotide variant	NM_016180.5(SLC45A2):c.1471G>A (p.Gly491Arg)	Abnormal bleeding [RCV001270520]\|Oculocutaneous albinism type 4 [RCV005408791]\|not provided [RCV002537730]	pathogenic\|likely pathogenic\|uncertain significance	5	33944770	33944770	Human	4	name
151849781	CV1389631	microsatellite	NM_016180.5(SLC45A2):c.105CAT[1] (p.Ile36del)	not provided [RCV001937192]	uncertain significance	5	33984474	33984476	Human		name
156364853	CV1934914	deletion	NM_016180.5(SLC45A2):c.152_153del (p.Val51fs)	not provided [RCV002651890]	pathogenic	5	33984431	33984432	Human		name
405113689	CV2900699	deletion	NM_016180.5(SLC45A2):c.160_164del (p.Ala54fs)	not provided [RCV003558163]	pathogenic	5	33984420	33984424	Human		name
597853855	CV3821598	duplication	NM_016180.5(SLC45A2):c.139_142dup (p.Cys48fs)	not provided [RCV005174076]	pathogenic	5	33984441	33984442	Human		name
150338573	CV1174276	duplication	NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs)	Oculocutaneous albinism type 4 [RCV001542578]\|SLC45A2-related disorder [RCV003394125]\|not provided [RCV001882612]	pathogenic	5	33982263	33982264	Human	1	name , trait , alternate_id
151857467	CV1491318	duplication	NM_016180.5(SLC45A2):c.614_617dup (p.Glu206fs)	not provided [RCV001958781]	pathogenic	5	33963961	33963962	Human		name
8558113	CV19540	microsatellite	NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del)	Oculocutaneous albinism type 4 [RCV000004759]\|not provided [RCV002512770]	pathogenic\|likely pathogenic	5	33963915	33963917	Human		name
405133077	CV3022059	deletion	NM_016180.5(SLC45A2):c.439_443del (p.Ile147fs)	not provided [RCV003701845]	pathogenic	5	33982355	33982359	Human		name
151354465	CV1329598	deletion	NM_016180.5(SLC45A2):c.529_531del (p.Glu177del)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005040404]\|not specified [RCV001817962]	uncertain significance	5	33982267	33982269	Human	1	name
151877866	CV1337723	inversion	NM_016180.5(SLC45A2):c.986_987inv (p.Thr329Met)	not provided [RCV001926050]	uncertain significance	5	33954406	33954407	Human		name
156131211	CV2022746	microsatellite	NM_016180.5(SLC45A2):c.1397ACA[1] (p.Asn467del)	not provided [RCV002740571]	uncertain significance	5	33944839	33944841	Human		name
151354194	CV1329327	deletion	NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)	Oculocutaneous albinism type 4 [RCV005416129]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005040400]\|not provided [RCV001817690]	pathogenic\|likely pathogenic	5	33947364	33947365	Human	2	name
156252552	CV1963895	indel	NM_016180.5(SLC45A2):c.14_15delinsAA (p.Ser5Lys)	not provided [RCV002576588]	uncertain significance	5	33984569	33984570	Human		name
156052283	CV2091489	deletion	NM_016180.5(SLC45A2):c.1201_1205del (p.Tyr401fs)	not provided [RCV002886205]	pathogenic	5	33947326	33947330	Human		name
405077729	CV3031696	deletion	NM_016180.5(SLC45A2):c.1575_1578del (p.Phe525fs)	not provided [RCV003698636]	likely pathogenic	5	33944663	33944666	Human		name
402500630	CV3035330	microsatellite	NM_016180.5(SLC45A2):c.1322_1323del (p.Val441fs)	not provided [RCV003714700]	pathogenic	5	33947208	33947209	Human		name
11645012	CV303762	microsatellite	NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)	Oculocutaneous albinism [RCV000263225]\|Oculocutaneous albinism type 4 [RCV000501440]\|SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005033892]\|not provided [RCV001850867]	pathogenic\|uncertain significance	5	33951633	33951634	Human		name
597719362	CV3721876	deletion	NM_016180.5(SLC45A2):c.1072_1081del (p.Thr358fs)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005035607]	likely pathogenic	5	33951629	33951638	Human	1	name
597719389	CV3721880	insertion	NM_016180.5(SLC45A2):c.339_340insAC (p.Leu114fs)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005035610]	likely pathogenic	5	33984244	33984245	Human	1	name
14693760	CV620194	duplication	NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs)	Oculocutaneous albinism type 4 [RCV000779472]	uncertain significance	5	33944666	33944667	Human		name
408366730	CV2872817	indel	NM_016180.5(SLC45A2):c.986_987delinsG (p.Thr329fs)	SLC45A2-related disorder [RCV004756974]	pathogenic	5	33954406	33954407	Human		name , trait , alternate_id
156239768	CV2177039	indel	NM_016180.5(SLC45A2):c.473_474delinsCT (p.Phe158Ser)	not provided [RCV003043401]	uncertain significance	5	33982324	33982325	Human		name
597940215	CV3788955	indel	NM_016180.5(SLC45A2):c.987_988delinsGC (p.Ala330Pro)	not provided [RCV005133418]	uncertain significance	5	33954405	33954406	Human		name
408366791	CV3516864	deletion	NM_016180.5(SLC45A2):c.459_470del (p.Ala155_Phe158del)	SLC45A2-related disorder [RCV004757031]	likely pathogenic	5	33982328	33982339	Human		name , trait , alternate_id
151746861	CV1428381	duplication	NM_016180.5(SLC45A2):c.1534_1539dup (p.Ser512_Ala513dup)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR [RCV005042534]\|not provided [RCV001927071]	likely pathogenic\|uncertain significance	5	33944701	33944702	Human	1	name
151802405	CV1352009	insertion	NM_016180.5(SLC45A2):c.798_799insACA (p.Tyr266_Glu267insThr)	not provided [RCV002048102]	uncertain significance	5	33963780	33963781	Human		name
405136761	CV2963042	insertion	NM_016180.5(SLC45A2):c.1202_1203insACTACATTGGATTAAAGGGTCTTTA (p.Tyr401Ter)	not provided [RCV003668786]	pathogenic	5	33947328	33947329	Human		name

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