Ap1s1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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148 records found for search term Ap1s1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405240114	CV2990034	single nucleotide variant	NM_001283.5(AP1S1):c.4-4A>G	not provided [RCV003683881]	likely benign	7	101156590	101156590	Human		name
405062336	CV3020529	single nucleotide variant	NM_001283.5(AP1S1):c.3+8G>A	not provided [RCV003697776]	likely benign	7	101154525	101154525	Human		name
402499248	CV3038331	single nucleotide variant	NM_001283.5(AP1S1):c.3+7T>A	not provided [RCV003714567]	likely benign	7	101154524	101154524	Human		name
405232349	CV3070814	single nucleotide variant	NM_001283.5(AP1S1):c.3+8G>T	not provided [RCV003735019]	likely benign	7	101154525	101154525	Human		name
405201564	CV3143564	single nucleotide variant	NM_001283.5(AP1S1):c.4-5C>A	not provided [RCV003844550]	likely benign	7	101156589	101156589	Human		name
597844994	CV3772140	single nucleotide variant	NM_001283.5(AP1S1):c.4-9C>T	not provided [RCV005120459]	likely benign	7	101156585	101156585	Human		name
598126549	CV3881998	single nucleotide variant	NM_001283.5(AP1S1):c.4-1G>C	not provided [RCV005233550]	uncertain significance	7	101156593	101156593	Human		name
150485396	CV1222988	single nucleotide variant	NM_001283.5(AP1S1):c.*293C>T	not provided [RCV001617700]	benign	7	101160859	101160859	Human	3	name
152122998	CV1546053	single nucleotide variant	NM_001283.5(AP1S1):c.4-11A>G	not provided [RCV002118085]	benign	7	101156583	101156583	Human		name
405224433	CV2885505	single nucleotide variant	NM_001283.5(AP1S1):c.3+12G>A	not provided [RCV003554412]	likely benign	7	101154529	101154529	Human		name
402494272	CV3004877	single nucleotide variant	NM_001283.5(AP1S1):c.3+11C>A	not provided [RCV003687846]	likely benign	7	101154528	101154528	Human		name
405237520	CV3081008	single nucleotide variant	NM_001283.5(AP1S1):c.3+15G>T	not provided [RCV003736178]	likely benign	7	101154532	101154532	Human		name
597896290	CV3828352	single nucleotide variant	NM_001283.5(AP1S1):c.3+19G>A	not provided [RCV005171244]	likely benign	7	101154536	101154536	Human		name
150436522	CV1234075	single nucleotide variant	NM_001283.5(AP1S1):c.4-302A>G	not provided [RCV001644202]	benign	7	101156292	101156292	Human		name
152145126	CV1543232	single nucleotide variant	NM_001283.5(AP1S1):c.182+8C>G	not provided [RCV002178606]	likely benign	7	101156780	101156780	Human		name
155943634	CV2130057	single nucleotide variant	NM_001283.5(AP1S1):c.183-5C>T	AP1S1-related disorder [RCV003961309]\|Inborn genetic diseases [RCV002971451]\|not provided [RCV002971452]	likely benign\|uncertain significance	7	101157372	101157372	Human	2	name , trait , alternate_id
402494109	CV2874328	single nucleotide variant	NM_001283.5(AP1S1):c.183-7T>G	not provided [RCV003545213]	likely benign	7	101157370	101157370	Human		name
405120051	CV2891558	single nucleotide variant	NM_001283.5(AP1S1):c.183-4G>A	not provided [RCV003558920]	likely benign	7	101157373	101157373	Human		name
405153821	CV2894133	single nucleotide variant	NM_001283.5(AP1S1):c.430-8T>C	not provided [RCV003561909]	likely benign	7	101160511	101160511	Human		name
402473328	CV2908904	single nucleotide variant	NM_001283.5(AP1S1):c.182+7C>G	not provided [RCV003570969]	likely benign	7	101156779	101156779	Human		name
405159624	CV2950182	single nucleotide variant	NM_001283.5(AP1S1):c.291+9C>A	not provided [RCV003674589]	likely benign	7	101157494	101157494	Human		name
405124345	CV3021147	single nucleotide variant	NM_001283.5(AP1S1):c.429+8C>G	not provided [RCV003701089]	likely benign	7	101159204	101159204	Human		name
405217236	CV3048791	single nucleotide variant	NM_001283.5(AP1S1):c.183-1G>C	MEDNIK syndrome [RCV005047809]\|not provided [RCV003732811]	pathogenic\|likely pathogenic	7	101157376	101157376	Human	1	name
405228510	CV3065839	single nucleotide variant	NM_001283.5(AP1S1):c.291+9C>T	not provided [RCV003734481]	likely benign	7	101157494	101157494	Human		name
405233240	CV3144953	single nucleotide variant	NM_001283.5(AP1S1):c.292-4C>A	not provided [RCV003853210]	likely benign	7	101159055	101159055	Human		name
405178362	CV3148592	single nucleotide variant	NM_001283.5(AP1S1):c.292-6T>C	not provided [RCV003858369]	likely benign	7	101159053	101159053	Human		name
597920667	CV3738106	single nucleotide variant	NM_001283.5(AP1S1):c.430-6C>T	not provided [RCV005074705]	likely benign	7	101160513	101160513	Human		name
597948961	CV3759239	single nucleotide variant	NM_001283.5(AP1S1):c.430-9C>T	not provided [RCV005079036]	likely benign	7	101160510	101160510	Human		name
597847247	CV3768445	single nucleotide variant	NM_001283.5(AP1S1):c.429+8C>A	not provided [RCV005122824]	likely benign	7	101159204	101159204	Human		name
597894088	CV3832140	single nucleotide variant	NM_001283.5(AP1S1):c.292-7C>T	not provided [RCV005168876]	likely benign	7	101159052	101159052	Human		name
8570676	CV48453	single nucleotide variant	NM_001283.5(AP1S1):c.183-2A>G	AP1S1-related disorder [RCV004758617]\|MEDNIK syndrome [RCV000033081]\|not provided [RCV003574705]	pathogenic	7	101157375	101157375	Human	1	name , trait , alternate_id
26887188	CV852046	single nucleotide variant	NM_001283.5(AP1S1):c.291+2T>A	Inborn genetic diseases [RCV002554391]\|MEDNIK syndrome [RCV005047259]\|not provided [RCV001055937]	likely pathogenic\|uncertain significance	7	101157487	101157487	Human	2	name
150407535	CV1182376	single nucleotide variant	NM_001283.5(AP1S1):c.182+78T>C	MEDNIK syndrome [RCV001554009]\|not provided [RCV001709739]	benign	7	101156850	101156850	Human	1	name
150446048	CV1215595	single nucleotide variant	NM_001283.5(AP1S1):c.430-90C>T	not provided [RCV001611188]	benign	7	101160429	101160429	Human	1	name
150446048	CV1215595	single nucleotide variant	NM_001283.5(AP1S1):c.430-90C>T	not provided [RCV001611188]	benign	7	101160429	101160430	Human	1	name
150493100	CV1238603	single nucleotide variant	NM_001283.5(AP1S1):c.292-24C>T	not provided [RCV001655147]	benign	7	101159035	101159035	Human	1	name
150493100	CV1238603	single nucleotide variant	NM_001283.5(AP1S1):c.292-24C>T	not provided [RCV001655147]	benign	7	101159035	101159036	Human	1	name
150498312	CV1255558	single nucleotide variant	NM_001283.5(AP1S1):c.430-71A>G	not provided [RCV001676346]	benign	7	101160448	101160448	Human		name
150474679	CV1263395	single nucleotide variant	NM_001283.5(AP1S1):c.183-23G>A	not provided [RCV001684918]	benign	7	101157354	101157354	Human		name
152066122	CV1620134	single nucleotide variant	NM_001283.5(AP1S1):c.182+13C>T	not provided [RCV002209370]	likely benign	7	101156785	101156785	Human		name
152044314	CV1637822	single nucleotide variant	NM_001283.5(AP1S1):c.429+12G>T	not provided [RCV002144902]	likely benign	7	101159208	101159208	Human		name
156012639	CV1880608	single nucleotide variant	NM_001283.5(AP1S1):c.183-17T>C	not provided [RCV003077180]	likely benign	7	101157360	101157360	Human		name
156031816	CV1923323	single nucleotide variant	NM_001283.5(AP1S1):c.183-15C>T	not provided [RCV002637196]	likely benign	7	101157362	101157362	Human		name
156056136	CV1928753	single nucleotide variant	NM_001283.5(AP1S1):c.429+12G>C	not provided [RCV002620776]	likely benign	7	101159208	101159208	Human		name
156151724	CV1929380	single nucleotide variant	NM_001283.5(AP1S1):c.291+19C>A	not provided [RCV002624027]	likely benign	7	101157504	101157504	Human		name
402502313	CV2869307	single nucleotide variant	NM_001283.5(AP1S1):c.183-14G>A	not provided [RCV003546034]	likely benign	7	101157363	101157363	Human		name
405156552	CV2890865	single nucleotide variant	NM_001283.5(AP1S1):c.291+12C>T	not provided [RCV003562094]	likely benign	7	101157497	101157497	Human		name
405162270	CV2895380	single nucleotide variant	NM_001283.5(AP1S1):c.292-11C>T	not provided [RCV003562479]	likely benign	7	101159048	101159048	Human		name
405219527	CV2903942	single nucleotide variant	NM_001283.5(AP1S1):c.291+17C>T	not provided [RCV003568195]	likely benign	7	101157502	101157502	Human		name
405188277	CV2917829	single nucleotide variant	NM_001283.5(AP1S1):c.291+20C>T	not provided [RCV003564641]	likely benign	7	101157505	101157505	Human		name
402507476	CV2927926	single nucleotide variant	NM_001283.5(AP1S1):c.182+10C>T	not provided [RCV003574506]	likely benign	7	101156782	101156782	Human		name
405216169	CV2967754	single nucleotide variant	NM_001283.5(AP1S1):c.429+12G>A	not provided [RCV003679904]	likely benign	7	101159208	101159208	Human		name
402517874	CV3003187	single nucleotide variant	NM_001283.5(AP1S1):c.182+14T>C	not provided [RCV003716114]	likely benign	7	101156786	101156786	Human		name
402525221	CV3015213	single nucleotide variant	NM_001283.5(AP1S1):c.292-14C>T	not provided [RCV003690590]	likely benign	7	101159045	101159045	Human		name
402499653	CV3015992	single nucleotide variant	NM_001283.5(AP1S1):c.292-10G>A	not provided [RCV003688284]	likely benign	7	101159049	101159049	Human		name
405170868	CV3025799	single nucleotide variant	NM_001283.5(AP1S1):c.183-18A>G	not provided [RCV003704672]	likely benign	7	101157359	101157359	Human		name
402482549	CV3036548	single nucleotide variant	NM_001283.5(AP1S1):c.291+10C>T	not provided [RCV003712995]	likely benign	7	101157495	101157495	Human		name
402499387	CV3038353	single nucleotide variant	NM_001283.5(AP1S1):c.292-10G>C	not provided [RCV003714579]	likely benign	7	101159049	101159049	Human		name
405142623	CV3056014	single nucleotide variant	NM_001283.5(AP1S1):c.183-11C>G	not provided [RCV003725786]	likely benign	7	101157366	101157366	Human		name
405242899	CV3077118	single nucleotide variant	NM_001283.5(AP1S1):c.183-11C>T	not provided [RCV003737618]	likely benign	7	101157366	101157366	Human		name
405209931	CV3117398	single nucleotide variant	NM_001283.5(AP1S1):c.430-12T>C	not provided [RCV003823185]	likely benign	7	101160507	101160507	Human		name
405004666	CV3120834	single nucleotide variant	NM_001283.5(AP1S1):c.183-14G>C	not provided [RCV003828437]	likely benign	7	101157363	101157363	Human		name
404980217	CV3183327	single nucleotide variant	NM_001283.5(AP1S1):c.183-10C>T	not provided [RCV003880350]	likely benign	7	101157367	101157367	Human		name
597939165	CV3756782	deletion	NM_001283.5(AP1S1):c.429+13del	not provided [RCV005077163]	likely benign	7	101159207	101159207	Human		name
597871698	CV3817141	single nucleotide variant	NM_001283.5(AP1S1):c.183-15C>G	not provided [RCV005146522]	likely benign	7	101157362	101157362	Human		name
150516984	CV1227423	single nucleotide variant	NM_001283.5(AP1S1):c.430-111C>T	not provided [RCV001639524]	benign	7	101160408	101160408	Human		name
150431869	CV1236569	single nucleotide variant	NM_001283.5(AP1S1):c.430-310C>A	not provided [RCV001641973]	benign	7	101160209	101160209	Human		name
150499869	CV1254437	single nucleotide variant	NM_001283.5(AP1S1):c.182+252C>T	not provided [RCV001676611]	benign	7	101157024	101157024	Human	1	name
150499869	CV1254437	single nucleotide variant	NM_001283.5(AP1S1):c.182+252C>T	not provided [RCV001676611]	benign	7	101157024	101157025	Human	1	name
150466372	CV1255728	single nucleotide variant	NM_001283.5(AP1S1):c.430-186C>T	not provided [RCV001670362]	benign	7	101160333	101160333	Human		name
150485399	CV1262085	single nucleotide variant	NM_001283.5(AP1S1):c.292-200T>C	not provided [RCV001686776]	benign	7	101158859	101158859	Human		name
150474169	CV1281719	single nucleotide variant	NM_001283.5(AP1S1):c.429+309A>G	not provided [RCV001713650]	benign	7	101159505	101159505	Human		name
405173640	CV2955443	duplication	NM_001283.5(AP1S1):c.3+25_3+40dup	not provided [RCV003675639]	likely benign	7	101154535	101154536	Human		name
405228024	CV3065700	microsatellite	NM_001283.5(AP1S1):c.429+19GAG[3]	not provided [RCV003734398]	likely benign	7	101159215	101159217	Human		name
156288232	CV1929847	single nucleotide variant	NM_001283.5(AP1S1):c.18A>G (p.Leu6=)	AP1S1-related disorder [RCV003953947]\|not provided [RCV002628703]	likely benign	7	101156608	101156608	Human	1	name , trait , alternate_id
15141322	CV735831	single nucleotide variant	NM_001283.5(AP1S1):c.16C>T (p.Leu6=)	not provided [RCV000899475]	benign	7	101156606	101156606	Human		name
401739039	CV2676424	single nucleotide variant	NM_001283.5(AP1S1):c.7C>T (p.Arg3Trp)	Inborn genetic diseases [RCV003240309]	uncertain significance	7	101156597	101156597	Human	1	name
402476203	CV2857218	single nucleotide variant	NM_001283.5(AP1S1):c.87G>A (p.Lys29=)	not provided [RCV003543415]	likely benign	7	101156677	101156677	Human		name
405222011	CV2881005	single nucleotide variant	NM_001283.5(AP1S1):c.69T>G (p.Thr23=)	not provided [RCV003554071]	likely benign	7	101156659	101156659	Human		name
405225495	CV2882062	single nucleotide variant	NM_001283.5(AP1S1):c.40C>T (p.Leu14=)	not provided [RCV003554583]	likely benign	7	101156630	101156630	Human		name
405050372	CV2883241	single nucleotide variant	NM_001283.5(AP1S1):c.72G>A (p.Ser24=)	not provided [RCV003579743]	likely benign	7	101156662	101156662	Human		name
405209966	CV2970442	single nucleotide variant	NM_001283.5(AP1S1):c.43C>A (p.Arg15=)	not provided [RCV003679234]	likely benign	7	101156633	101156633	Human		name
405232510	CV2985352	single nucleotide variant	NM_001283.5(AP1S1):c.72G>C (p.Ser24=)	not provided [RCV003711755]	likely benign	7	101156662	101156662	Human		name
405238642	CV3078027	microsatellite	NM_001283.5(AP1S1):c.430-19_430-18del	not provided [RCV003736346]	likely benign	7	101160498	101160499	Human		name
405030842	CV3080507	microsatellite	NM_001283.5(AP1S1):c.430-13_430-10del	not provided [RCV003739019]	likely benign	7	101160499	101160502	Human		name
405170199	CV3149986	single nucleotide variant	NM_001283.5(AP1S1):c.96G>A (p.Val32=)	not provided [RCV003841457]	likely benign	7	101156686	101156686	Human		name
597961674	CV3756679	single nucleotide variant	NM_001283.5(AP1S1):c.69T>C (p.Thr23=)	not provided [RCV005081801]	likely benign	7	101156659	101156659	Human		name
15148916	CV710665	single nucleotide variant	NM_001283.5(AP1S1):c.99C>T (p.Arg33=)	not provided [RCV000967647]	benign	7	101156689	101156689	Human		name
38496093	CV945267	single nucleotide variant	NM_001283.5(AP1S1):c.2T>C (p.Met1Thr)	not provided [RCV001226164]	uncertain significance	7	101154516	101154516	Human		name
126737239	CV1007007	single nucleotide variant	NM_001283.5(AP1S1):c.124C>A (p.Arg42=)	not provided [RCV001324770]	likely benign\|uncertain significance	7	101156714	101156714	Human		name
152087982	CV1528146	single nucleotide variant	NM_001283.5(AP1S1):c.153G>A (p.Glu51=)	not provided [RCV002093770]	benign	7	101156743	101156743	Human		name
156110363	CV1903865	single nucleotide variant	NM_001283.5(AP1S1):c.294G>T (p.Val98=)	not provided [RCV003080945]	likely benign	7	101159061	101159061	Human		name
405156541	CV2890864	single nucleotide variant	NM_001283.5(AP1S1):c.270C>G (p.Leu90=)	not provided [RCV003562093]	likely benign	7	101157464	101157464	Human		name
405222406	CV2891009	single nucleotide variant	NM_001283.5(AP1S1):c.255C>T (p.His85=)	not provided [RCV003554128]	likely benign	7	101157449	101157449	Human		name
405240244	CV2892853	single nucleotide variant	NM_001283.5(AP1S1):c.297C>T (p.Cys99=)	not provided [RCV003557253]	likely benign	7	101159064	101159064	Human		name
405157984	CV2898082	single nucleotide variant	NM_001283.5(AP1S1):c.234C>T (p.Leu78=)	not provided [RCV003562191]	likely benign	7	101157428	101157428	Human		name
405157999	CV2898083	single nucleotide variant	NM_001283.5(AP1S1):c.294G>A (p.Val98=)	not provided [RCV003562192]	likely benign	7	101159061	101159061	Human		name
402467835	CV2910666	single nucleotide variant	NM_001283.5(AP1S1):c.240A>T (p.Thr80=)	not provided [RCV003569763]	likely benign	7	101157434	101157434	Human		name
402505334	CV2927709	single nucleotide variant	NM_001283.5(AP1S1):c.279A>G (p.Lys93=)	not provided [RCV003574399]	likely benign	7	101157473	101157473	Human		name
405113563	CV2948697	single nucleotide variant	NM_001283.5(AP1S1):c.237C>T (p.Ile79=)	not provided [RCV003666631]	likely benign	7	101157431	101157431	Human		name
405011688	CV2980288	single nucleotide variant	NM_001283.5(AP1S1):c.231G>A (p.Glu77=)	not provided [RCV003694037]	likely benign	7	101157425	101157425	Human		name
402511903	CV2994842	single nucleotide variant	NM_001283.5(AP1S1):c.117C>A (p.Val39=)	not provided [RCV003689509]	likely benign	7	101156707	101156707	Human		name
405022185	CV3002699	single nucleotide variant	NM_001283.5(AP1S1):c.148C>T (p.Leu50=)	not provided [RCV003694925]	likely benign	7	101156738	101156738	Human		name
405254098	CV3045280	single nucleotide variant	NM_001283.5(AP1S1):c.132C>T (p.Pro44=)	not provided [RCV003722849]	likely benign	7	101156722	101156722	Human		name
405245879	CV3051705	single nucleotide variant	NM_001283.5(AP1S1):c.186T>C (p.Tyr62=)	not provided [RCV003720414]	likely benign	7	101157380	101157380	Human		name
405165531	CV3059556	single nucleotide variant	NM_001283.5(AP1S1):c.261C>T (p.Tyr87=)	not provided [RCV003727412]	likely benign	7	101157455	101157455	Human		name
405161123	CV3062529	single nucleotide variant	NM_001283.5(AP1S1):c.147C>T (p.Phe49=)	not provided [RCV003727106]	benign	7	101156737	101156737	Human		name
405151347	CV3063733	single nucleotide variant	NM_001283.5(AP1S1):c.117C>T (p.Val39=)	not provided [RCV003726402]	likely benign	7	101156707	101156707	Human		name
405101528	CV3144355	single nucleotide variant	NM_001283.5(AP1S1):c.126A>G (p.Arg42=)	not provided [RCV003852808]	likely benign	7	101156716	101156716	Human		name
405217219	CV3160944	single nucleotide variant	NM_001283.5(AP1S1):c.135G>A (p.Lys45=)	not provided [RCV003863006]	likely benign	7	101156725	101156725	Human		name
15109074	CV710666	single nucleotide variant	NM_001283.5(AP1S1):c.117C>G (p.Val39=)	MEDNIK syndrome [RCV002489351]\|not provided [RCV000960620]	benign\|likely benign	7	101156707	101156707	Human	1	name
15142429	CV710667	single nucleotide variant	NM_001283.5(AP1S1):c.201C>T (p.Phe67=)	AP1S1-related disorder [RCV003960779]\|not provided [RCV000966488]	benign\|likely benign	7	101157395	101157395	Human	1	name , trait , alternate_id
15167619	CV735832	single nucleotide variant	NM_001283.5(AP1S1):c.207C>T (p.Cys69=)	not provided [RCV000904689]	likely benign	7	101157401	101157401	Human		name
155962467	CV1881679	single nucleotide variant	NM_001283.5(AP1S1):c.405C>T (p.Ile135=)	not provided [RCV003074759]	likely benign	7	101159172	101159172	Human		name
156283199	CV1929586	single nucleotide variant	NM_001283.5(AP1S1):c.441G>A (p.Ser147=)	not provided [RCV002628505]	likely benign	7	101160530	101160530	Human		name
405052325	CV2893561	single nucleotide variant	NM_001283.5(AP1S1):c.306C>T (p.Asp102=)	not provided [RCV003579878]	likely benign	7	101159073	101159073	Human		name
405231130	CV2899915	single nucleotide variant	NM_001283.5(AP1S1):c.462G>A (p.Glu154=)	not provided [RCV003555538]	likely benign	7	101160551	101160551	Human		name
405241817	CV2901556	single nucleotide variant	NM_001283.5(AP1S1):c.426A>G (p.Gln142=)	not provided [RCV003557557]	likely benign	7	101159193	101159193	Human		name
402521498	CV2902653	single nucleotide variant	NM_001283.5(AP1S1):c.394C>T (p.Leu132=)	not provided [RCV003575797]	likely benign	7	101159161	101159161	Human		name
405059224	CV2929034	single nucleotide variant	NM_001283.5(AP1S1):c.414T>C (p.Ala138=)	not provided [RCV003580345]	likely benign	7	101159181	101159181	Human		name
405101583	CV2941980	single nucleotide variant	NM_001283.5(AP1S1):c.309C>T (p.Ile103=)	not provided [RCV003666211]	likely benign	7	101159076	101159076	Human		name
402500955	CV2943653	single nucleotide variant	NM_001283.5(AP1S1):c.402C>T (p.Ala134=)	not provided [RCV003661597]	likely benign	7	101159169	101159169	Human		name
405229787	CV2968066	single nucleotide variant	NM_001283.5(AP1S1):c.339C>T (p.Ile113=)	not provided [RCV003682060]	likely benign	7	101159106	101159106	Human		name
405249323	CV2983688	single nucleotide variant	NM_001283.5(AP1S1):c.447G>T (p.Arg149=)	not provided [RCV003686165]	likely benign	7	101160536	101160536	Human		name
402494324	CV3008600	single nucleotide variant	NM_001283.5(AP1S1):c.321T>C (p.Phe107=)	not provided [RCV003687781]	likely benign	7	101159088	101159088	Human		name
405028629	CV3015649	single nucleotide variant	NM_001283.5(AP1S1):c.384G>A (p.Lys128=)	not provided [RCV003695398]	likely benign	7	101159151	101159151	Human		name
405198371	CV3132160	single nucleotide variant	NM_001283.5(AP1S1):c.60C>G (p.Tyr20Ter)	not provided [RCV003821753]	pathogenic	7	101156650	101156650	Human		name
405047836	CV3137853	single nucleotide variant	NM_001283.5(AP1S1):c.318C>T (p.Asn106=)	not provided [RCV003831891]	likely benign	7	101159085	101159085	Human		name
405176844	CV3146883	single nucleotide variant	NM_001283.5(AP1S1):c.456G>A (p.Leu152=)	not provided [RCV003841978]	likely benign	7	101160545	101160545	Human		name
402487595	CV3181932	single nucleotide variant	NM_001283.5(AP1S1):c.396G>A (p.Leu132=)	not provided [RCV003876601]	likely benign	7	101159163	101159163	Human		name
597841216	CV3772589	single nucleotide variant	NM_001283.5(AP1S1):c.459G>A (p.Glu153=)	not provided [RCV005115739]	likely benign	7	101160548	101160548	Human		name
598190302	CV3994103	single nucleotide variant	NM_001283.5(AP1S1):c.28C>T (p.Arg10Trp)	Inborn genetic diseases [RCV005374025]	uncertain significance	7	101156618	101156618	Human	1	name
15105033	CV750301	single nucleotide variant	NM_001283.5(AP1S1):c.363G>T (p.Gly121=)	AP1S1-related disorder [RCV003970423]\|not provided [RCV000915467]	likely benign	7	101159130	101159130	Human	1	name , trait , alternate_id
405049230	CV3137868	single nucleotide variant	NM_001283.5(AP1S1):c.261C>G (p.Tyr87Ter)	not provided [RCV003831906]	pathogenic	7	101157455	101157455	Human		name
405697679	CV3279009	single nucleotide variant	NM_001283.5(AP1S1):c.213C>G (p.Ile71Met)	Inborn genetic diseases [RCV004424830]	uncertain significance	7	101157407	101157407	Human	1	name
598126545	CV3881994	single nucleotide variant	NM_001283.5(AP1S1):c.292G>A (p.Val98Met)	not provided [RCV005233546]	uncertain significance	7	101159059	101159059	Human		name
13520802	CV495299	duplication	NM_001283.5(AP1S1):c.364dup (p.Asp122fs)	MEDNIK syndrome [RCV001215772]\|not provided [RCV000598932]	pathogenic\|likely pathogenic	7	101159123	101159124	Human	1	name
14396025	CV611668	single nucleotide variant	NM_001283.5(AP1S1):c.186T>G (p.Tyr62Ter)	MEDNIK syndrome [RCV001731918]\|not provided [RCV000760751]	pathogenic\|likely pathogenic	7	101157380	101157380	Human	1	name
21072223	CV792763	single nucleotide variant	NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter)	MEDNIK syndrome [RCV000991383]\|not provided [RCV003558626]	pathogenic\|likely pathogenic	7	101157414	101157414	Human	1	name
21072227	CV792764	deletion	NM_001283.5(AP1S1):c.364del (p.Asp122fs)	MEDNIK syndrome [RCV000991384]\|not provided [RCV001593169]	likely pathogenic\|uncertain significance	7	101159124	101159124	Human	1	name
151871643	CV1429765	single nucleotide variant	NM_001283.5(AP1S1):c.302T>C (p.Leu101Pro)	not provided [RCV002019028]	uncertain significance	7	101159069	101159069	Human		name
156013343	CV2035849	single nucleotide variant	NM_001283.5(AP1S1):c.357G>C (p.Met119Ile)	not provided [RCV002756805]	uncertain significance	7	101159124	101159124	Human		name
156224775	CV2219447	single nucleotide variant	NM_001283.5(AP1S1):c.365A>C (p.Asp122Ala)	Inborn genetic diseases [RCV002712364]	uncertain significance	7	101159132	101159132	Human	1	name
401940472	CV2839315	single nucleotide variant	NM_001283.5(AP1S1):c.298G>A (p.Glu100Lys)	MEDNIK syndrome [RCV003448873]	uncertain significance	7	101159065	101159065	Human	1	name
405231068	CV2964432	single nucleotide variant	NM_001283.5(AP1S1):c.368T>A (p.Val123Asp)	not provided [RCV003682200]	uncertain significance	7	101159135	101159135	Human		name
38477753	CV924529	single nucleotide variant	NM_001283.5(AP1S1):c.359G>C (p.Gly120Ala)	Inborn genetic diseases [RCV002561889]\|not provided [RCV001216288]	likely benign\|uncertain significance	7	101159126	101159126	Human	1	name
38499677	CV954945	single nucleotide variant	NM_001283.5(AP1S1):c.364G>C (p.Asp122His)	not provided [RCV001244946]	uncertain significance	7	101159131	101159131	Human		name
126751941	CV991831	single nucleotide variant	NM_001283.5(AP1S1):c.358G>C (p.Gly120Arg)	not provided [RCV001297625]	uncertain significance	7	101159125	101159125	Human		name

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