Ap2s1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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124 records found for search term Ap2s1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
127303814	CV1128001	single nucleotide variant	NM_004069.6(AP2S1):c.4-5C>T	not provided [RCV001454842]	likely benign	19	46846147	46846147	Human		name
150453396	CV1205642	single nucleotide variant	NM_004069.6(AP2S1):c.*70G>A	not provided [RCV001585543]	likely benign	19	46838377	46838377	Human		name
152135034	CV1638490	single nucleotide variant	NM_004069.6(AP2S1):c.4-7C>T	not provided [RCV002083389]	likely benign	19	46846149	46846149	Human		name
155906749	CV2027644	single nucleotide variant	NM_004069.6(AP2S1):c.4-8G>T	not provided [RCV002726517]	likely benign	19	46846150	46846150	Human		name
150440600	CV1266939	single nucleotide variant	NM_004069.6(AP2S1):c.*210C>T	not provided [RCV001690375]	benign	19	46838237	46838237	Human		name
152051465	CV1527974	single nucleotide variant	NM_004069.6(AP2S1):c.3+20C>A	not provided [RCV002089212]	likely benign	19	46850744	46850744	Human		name
152117094	CV1623012	single nucleotide variant	NM_004069.6(AP2S1):c.3+20C>T	not provided [RCV002117340]	likely benign	19	46850744	46850744	Human		name
153303254	CV1690226	deletion	NM_004069.6(AP2S1):c.3+41del	not specified [RCV002269126]	likely benign	19	46850723	46850723	Human		name
156446083	CV1951108	single nucleotide variant	NM_004069.6(AP2S1):c.3+11A>G	not provided [RCV003117046]	likely benign	19	46850753	46850753	Human		name
156370633	CV2171130	single nucleotide variant	NM_004069.6(AP2S1):c.3+14G>T	not provided [RCV003032197]	likely benign	19	46850750	46850750	Human		name
329350086	CV2477268	duplication	NM_004069.6(AP2S1):c.3+41dup	not provided [RCV003221593]\|not specified [RCV003321983]	benign\|likely benign	19	46850722	46850723	Human		name
401797957	CV2741235	single nucleotide variant	NM_004069.6(AP2S1):c.4-49C>T	not specified [RCV003322398]	likely benign	19	46846191	46846191	Human		name
405156516	CV3037415	single nucleotide variant	NM_004069.6(AP2S1):c.4-20T>A	not provided [RCV003703660]	uncertain significance	19	46846162	46846162	Human		name
405223381	CV3061284	deletion	NM_004069.6(AP2S1):c.4-13del	not provided [RCV003733656]	likely benign	19	46846155	46846155	Human		name
405179766	CV3147400	single nucleotide variant	NM_004069.6(AP2S1):c.3+13C>G	not provided [RCV003842302]	likely benign	19	46850751	46850751	Human		name
127301934	CV1148963	single nucleotide variant	NM_004069.6(AP2S1):c.327+8C>T	AP2S1-related disorder [RCV003965966]\|not provided [RCV001478827]\|not specified [RCV002268491]	likely benign	19	46838732	46838732	Human	1	name , trait , alternate_id
127332644	CV1148964	single nucleotide variant	NM_004069.6(AP2S1):c.153+6G>A	not provided [RCV001489637]	likely benign\|conflicting interpretations of pathogenicity	19	46845987	46845987	Human		name
150493672	CV1267194	deletion	NM_004069.6(AP2S1):c.4-300del	not provided [RCV001688222]	benign	19	46846442	46846442	Human		name
151233387	CV1317063	single nucleotide variant	NM_004069.6(AP2S1):c.3+108G>T	not provided [RCV001786884]	likely benign	19	46850656	46850656	Human		name
151870052	CV1412324	single nucleotide variant	NM_004069.6(AP2S1):c.153+5C>T	Familial hypocalciuric hypercalcemia 3 [RCV002482747]\|not provided [RCV001885023]	uncertain significance	19	46845988	46845988	Human	1	name
151807567	CV1474644	single nucleotide variant	NM_004069.6(AP2S1):c.267+4C>T	not provided [RCV001932881]	uncertain significance	19	46839461	46839461	Human		name
152145502	CV1658352	single nucleotide variant	NM_004069.6(AP2S1):c.268-8T>G	not provided [RCV002219979]	likely benign	19	46838807	46838807	Human		name
152084467	CV1663020	single nucleotide variant	NM_004069.6(AP2S1):c.267+8G>A	not provided [RCV002170980]	likely benign	19	46839457	46839457	Human		name
155939926	CV1913550	single nucleotide variant	NM_004069.6(AP2S1):c.153+9C>T	not provided [RCV002615561]	likely benign	19	46845984	46845984	Human		name
156286060	CV2187173	single nucleotide variant	NM_004069.6(AP2S1):c.327+5G>A	not provided [RCV003044948]	uncertain significance	19	46838735	46838735	Human		name
11542912	CV257159	single nucleotide variant	NM_004069.6(AP2S1):c.267+5G>A	not provided [RCV001514793]\|not specified [RCV000241766]	benign	19	46839460	46839460	Human		name
405244843	CV3050777	single nucleotide variant	NM_004069.6(AP2S1):c.268-6T>C	not provided [RCV003720087]	likely benign	19	46838805	46838805	Human		name
405252574	CV3178032	single nucleotide variant	NM_004069.6(AP2S1):c.328-3C>T	not provided [RCV003870812]	uncertain significance	19	46838551	46838551	Human		name
405290284	CV3221376	single nucleotide variant	NM_004069.6(AP2S1):c.3+638G>A	AP2S1-related disorder [RCV003962220]	likely benign	19	46850126	46850126	Human		name , trait , alternate_id
597909856	CV3782045	single nucleotide variant	NM_004069.6(AP2S1):c.328-7C>T	not provided [RCV005128537]	likely benign	19	46838555	46838555	Human		name
597947920	CV3800824	single nucleotide variant	NM_004069.6(AP2S1):c.154-6C>A	not provided [RCV005135224]	likely benign	19	46839584	46839584	Human		name
126737701	CV998667	single nucleotide variant	NM_004069.6(AP2S1):c.267+7C>T	Familial hypocalciuric hypercalcemia 3 [RCV005029863]\|not provided [RCV001295391]	likely benign\|uncertain significance	19	46839458	46839458	Human	1	name
126736807	CV998668	single nucleotide variant	NM_004069.6(AP2S1):c.267+4C>G	not provided [RCV001295271]	uncertain significance	19	46839461	46839461	Human		name
150418968	CV1181778	single nucleotide variant	NM_004069.6(AP2S1):c.267+37T>G	not provided [RCV001550831]\|not specified [RCV003321852]	likely benign	19	46839428	46839428	Human		name
150418580	CV1181779	single nucleotide variant	NM_004069.6(AP2S1):c.267+33C>G	not provided [RCV001550662]	likely benign	19	46839432	46839432	Human		name
150407545	CV1182487	single nucleotide variant	NM_004069.6(AP2S1):c.154-32T>G	Familial hypocalciuric hypercalcemia 3 [RCV001554014]\|not provided [RCV001598696]	benign	19	46839610	46839610	Human	1	name
150428828	CV1188793	single nucleotide variant	NM_004069.6(AP2S1):c.328-79G>T	not provided [RCV001562778]	likely benign	19	46838627	46838627	Human		name
150419949	CV1199152	single nucleotide variant	NM_004069.6(AP2S1):c.328-22C>T	not provided [RCV001577400]\|not specified [RCV002268525]	likely benign	19	46838570	46838570	Human		name
150420351	CV1199153	single nucleotide variant	NM_004069.6(AP2S1):c.267+30A>G	not provided [RCV001577573]	likely benign	19	46839435	46839435	Human		name
150495871	CV1225183	single nucleotide variant	NM_004069.6(AP2S1):c.154-94C>T	not provided [RCV001619661]	benign	19	46839672	46839672	Human		name
152092120	CV1567726	single nucleotide variant	NM_004069.6(AP2S1):c.153+13C>T	not provided [RCV002212870]	likely benign	19	46845980	46845980	Human		name
152144938	CV1576602	single nucleotide variant	NM_004069.6(AP2S1):c.153+17G>A	not provided [RCV002101317]	likely benign	19	46845976	46845976	Human		name
152046550	CV1600371	single nucleotide variant	NM_004069.6(AP2S1):c.328-10C>T	not provided [RCV002088614]	likely benign	19	46838558	46838558	Human		name
153303249	CV1690222	single nucleotide variant	NM_004069.6(AP2S1):c.328-30C>T	not specified [RCV002269122]	uncertain significance	19	46838578	46838578	Human		name
153303250	CV1690223	single nucleotide variant	NM_004069.6(AP2S1):c.327+48G>A	not specified [RCV002269123]	likely benign	19	46838692	46838692	Human		name
153303251	CV1690224	single nucleotide variant	NM_004069.6(AP2S1):c.268-26T>G	not specified [RCV002269124]	likely benign	19	46838825	46838825	Human		name
153303252	CV1690225	single nucleotide variant	NM_004069.6(AP2S1):c.154-29C>T	not specified [RCV002269125]	likely benign	19	46839607	46839607	Human		name
155268685	CV1705512	single nucleotide variant	NM_004069.6(AP2S1):c.267+31G>A	not provided [RCV002286118]\|not specified [RCV003321919]	likely benign	19	46839434	46839434	Human		name
156436381	CV1942748	single nucleotide variant	NM_004069.6(AP2S1):c.267+19G>A	not provided [RCV003105419]	likely benign	19	46839446	46839446	Human		name
156446053	CV1951080	single nucleotide variant	NM_004069.6(AP2S1):c.328-11C>T	not provided [RCV003117016]	likely benign	19	46838559	46838559	Human		name
156218835	CV1995618	single nucleotide variant	NM_004069.6(AP2S1):c.154-19C>T	not provided [RCV002667146]	likely benign	19	46839597	46839597	Human		name
405223592	CV3061358	single nucleotide variant	NM_004069.6(AP2S1):c.153+14C>T	not provided [RCV003733687]	likely benign	19	46845979	46845979	Human		name
407487679	CV3414997	single nucleotide variant	NM_004069.6(AP2S1):c.153+30C>T	not specified [RCV004597332]	likely benign	19	46845963	46845963	Human		name
597918011	CV3789662	single nucleotide variant	NM_004069.6(AP2S1):c.153+12T>A	not provided [RCV005129757]	likely benign	19	46845981	46845981	Human		name
597926456	CV3836811	single nucleotide variant	NM_004069.6(AP2S1):c.153+10G>A	not provided [RCV005185162]	likely benign	19	46845983	46845983	Human		name
597948884	CV3852570	single nucleotide variant	NM_004069.6(AP2S1):c.327+20G>A	not provided [RCV005189648]	likely benign	19	46838720	46838720	Human		name
150405787	CV1178405	single nucleotide variant	NM_004069.6(AP2S1):c.267+309C>T	not provided [RCV001545017]	likely benign	19	46839156	46839156	Human		name
150452641	CV1219738	single nucleotide variant	NM_004069.6(AP2S1):c.154-244G>T	not provided [RCV001612119]	benign	19	46839822	46839822	Human		name
150436607	CV1220573	duplication	NM_004069.6(AP2S1):c.154-265dup	not provided [RCV001609557]	benign	19	46839841	46839842	Human		name
150468716	CV1259537	single nucleotide variant	NM_004069.6(AP2S1):c.268-264C>G	not provided [RCV001683837]	benign	19	46839063	46839063	Human		name
150465730	CV1277287	single nucleotide variant	NM_004069.6(AP2S1):c.268-183T>A	not provided [RCV001710581]	benign	19	46838982	46838982	Human		name
152093803	CV1632010	microsatellite	NM_004069.6(AP2S1):c.4-14_4-12del	Familial hypocalciuric hypercalcemia 3 [RCV002500040]\|not provided [RCV002132368]	benign\|likely benign	19	46846154	46846156	Human		name
127312596	CV1128000	single nucleotide variant	NM_004069.6(AP2S1):c.9C>G (p.Arg3=)	not provided [RCV001457174]	likely benign	19	46846137	46846137	Human		name
127323979	CV1127999	single nucleotide variant	NM_004069.6(AP2S1):c.15C>T (p.Ile5=)	not provided [RCV001468065]	likely benign	19	46846131	46846131	Human		name
156378941	CV1903211	duplication	NM_004069.6(AP2S1):c.328-29_328-9dup	not provided [RCV003093114]	uncertain significance	19	46838556	46838557	Human		name
402520801	CV2871101	single nucleotide variant	NM_004069.6(AP2S1):c.18C>T (p.Leu6=)	not provided [RCV003547686]	likely benign	19	46846128	46846128	Human		name
127231045	CV1084866	single nucleotide variant	NM_004069.6(AP2S1):c.42G>A (p.Thr14=)	not provided [RCV001395095]	likely benign	19	46846104	46846104	Human		name
152051386	CV1521408	single nucleotide variant	NM_004069.6(AP2S1):c.42G>T (p.Thr14=)	not provided [RCV002145734]	likely benign	19	46846104	46846104	Human		name
152145547	CV1582681	single nucleotide variant	NM_004069.6(AP2S1):c.72T>C (p.Asp24=)	not provided [RCV002201183]	likely benign	19	46846074	46846074	Human		name
152118525	CV1602591	single nucleotide variant	NM_004069.6(AP2S1):c.75T>C (p.Asp25=)	Familial hypocalciuric hypercalcemia 3 [RCV002499999]\|not provided [RCV002117530]	likely benign	19	46846071	46846071	Human	1	name
156318700	CV1897656	single nucleotide variant	NM_004069.6(AP2S1):c.30G>A (p.Arg10=)	not provided [RCV002579105]	likely benign	19	46846116	46846116	Human		name
156071325	CV1959259	single nucleotide variant	NM_004069.6(AP2S1):c.48G>A (p.Leu16=)	not provided [RCV002569612]	likely benign	19	46846098	46846098	Human		name
405244737	CV3050762	single nucleotide variant	NM_004069.6(AP2S1):c.96C>T (p.Ile32=)	not provided [RCV003720076]	likely benign	19	46846050	46846050	Human		name
597944400	CV3782821	single nucleotide variant	NM_004069.6(AP2S1):c.54G>A (p.Lys18=)	not provided [RCV005134361]	likely benign	19	46846092	46846092	Human		name
127238130	CV1084865	single nucleotide variant	NM_004069.6(AP2S1):c.241C>T (p.Leu81=)	not provided [RCV001415047]	likely benign	19	46839491	46839491	Human		name
127308606	CV1158590	single nucleotide variant	NM_004069.6(AP2S1):c.261C>T (p.Phe87=)	Familial hypocalciuric hypercalcemia 3 [RCV002495813]\|not provided [RCV001517560]	benign\|likely benign	19	46839471	46839471	Human	1	name
152101556	CV1540221	single nucleotide variant	NM_004069.6(AP2S1):c.105G>A (p.Val35=)	not provided [RCV002095599]	likely benign	19	46846041	46846041	Human		name
152175927	CV1580192	single nucleotide variant	NM_004069.6(AP2S1):c.111C>T (p.Ala37=)	Familial hypocalciuric hypercalcemia 3 [RCV002505840]\|not provided [RCV002164065]	benign\|likely benign	19	46846035	46846035	Human	1	name
155983536	CV1896986	single nucleotide variant	NM_004069.6(AP2S1):c.129C>T (p.Asp43=)	not provided [RCV003097500]	likely benign	19	46846017	46846017	Human		name
156315118	CV1907249	single nucleotide variant	NM_004069.6(AP2S1):c.294C>T (p.Val98=)	not provided [RCV003088677]	likely benign	19	46838773	46838773	Human		name
156105313	CV1917173	single nucleotide variant	NM_004069.6(AP2S1):c.276C>T (p.Asn92=)	not provided [RCV002592427]	likely benign	19	46838791	46838791	Human		name
401937324	CV2818467	single nucleotide variant	NM_004069.6(AP2S1):c.120C>T (p.Thr40=)	not provided [RCV003415333]	likely benign	19	46846026	46846026	Human		name
405229086	CV2977118	single nucleotide variant	NM_004069.6(AP2S1):c.186T>C (p.Tyr62=)	not provided [RCV003711206]	likely benign	19	46839546	46839546	Human		name
405000724	CV3005425	single nucleotide variant	NM_004069.6(AP2S1):c.285C>T (p.Phe95=)	Familial hypocalciuric hypercalcemia 3 [RCV005014863]\|not provided [RCV003693145]	likely benign\|uncertain significance	19	46838782	46838782	Human	1	name
404999460	CV3009010	single nucleotide variant	NM_004069.6(AP2S1):c.159G>C (p.Arg53=)	not provided [RCV003693029]	likely benign	19	46839573	46839573	Human		name
405234797	CV3155591	single nucleotide variant	NM_004069.6(AP2S1):c.165T>C (p.Phe55=)	not provided [RCV003853569]	likely benign	19	46839567	46839567	Human		name
402467339	CV3174068	single nucleotide variant	NM_004069.6(AP2S1):c.297T>C (p.Cys99=)	not provided [RCV003873351]	likely benign	19	46838770	46838770	Human		name
405261971	CV3194238	single nucleotide variant	NM_004069.6(AP2S1):c.189T>C (p.Ala63=)	AP2S1-related disorder [RCV003896275]	likely benign	19	46839543	46839543	Human		name , trait , alternate_id
597662906	CV3705764	single nucleotide variant	NM_004069.6(AP2S1):c.13A>G (p.Ile5Val)	Familial hypocalciuric hypercalcemia 3 [RCV005028700]	uncertain significance	19	46846133	46846133	Human	1	name
127331076	CV1148962	single nucleotide variant	NM_004069.6(AP2S1):c.336G>A (p.Thr112=)	not provided [RCV001488585]	likely benign	19	46838540	46838540	Human		name
150476736	CV1239926	deletion	NM_004069.6(AP2S1):c.154-251_154-248del	not provided [RCV001652104]	benign	19	46839826	46839829	Human		name
151806495	CV1400018	single nucleotide variant	NM_004069.6(AP2S1):c.363C>T (p.Gly121=)	not provided [RCV002012038]	likely benign\|uncertain significance	19	46838513	46838513	Human		name
151667562	CV1414431	single nucleotide variant	NM_004069.6(AP2S1):c.66G>C (p.Gln22His)	not provided [RCV001870616]	uncertain significance	19	46846080	46846080	Human		name
152107634	CV1529880	single nucleotide variant	NM_004069.6(AP2S1):c.387G>A (p.Thr129=)	Familial hypocalciuric hypercalcemia 3 [RCV002500432]\|not provided [RCV002196361]	likely benign	19	46838489	46838489	Human	1	name
156165593	CV1866869	single nucleotide variant	NM_004069.6(AP2S1):c.29G>A (p.Arg10Gln)	not provided [RCV002508421]	uncertain significance	19	46846117	46846117	Human		name
405226302	CV3042126	single nucleotide variant	NM_004069.6(AP2S1):c.303G>A (p.Leu101=)	not provided [RCV003710581]	likely benign	19	46838764	46838764	Human		name
405080854	CV3050398	single nucleotide variant	NM_004069.6(AP2S1):c.357G>A (p.Leu119=)	not provided [RCV003717062]	likely benign	19	46838519	46838519	Human		name
405186704	CV3156421	single nucleotide variant	NM_004069.6(AP2S1):c.360T>G (p.Ala120=)	not provided [RCV003859299]	likely benign	19	46838516	46838516	Human		name
12901826	CV410639	single nucleotide variant	NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)	AP2S1-related disorder [RCV003409662]\|Familial hypocalciuric hypercalcemia 3 [RCV001332374]\|Neurodevelopmental disorder [RCV001374920]\|not provided [RCV000485645]	likely pathogenic\|uncertain significance	19	46846118	46846118	Human	2	name , trait , alternate_id
8604242	CV48023	single nucleotide variant	NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)	AP2S1-related disorder [RCV004748539]\|Familial hypocalciuric hypercalcemia 3 [RCV000032619]\|not provided [RCV001228882]	pathogenic	19	46846103	46846103	Human	1	name , trait , alternate_id
8604243	CV48024	single nucleotide variant	NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)	AP2S1-related disorder [RCV003904882]\|Familial hypocalciuric hypercalcemia 3 [RCV000032620]\|not provided [RCV001220777]	pathogenic	19	46846102	46846102	Human	1	name , trait , alternate_id
8604244	CV48025	single nucleotide variant	NM_004069.6(AP2S1):c.44G>A (p.Arg15His)	AP2S1-related disorder [RCV004748540]\|Familial hypocalciuric hypercalcemia 3 [RCV000032621]\|not provided [RCV000520417]	pathogenic	19	46846102	46846102	Human	1	name , trait , alternate_id
150449572	CV1202458	single nucleotide variant	NM_004069.6(AP2S1):c.181C>T (p.Arg61Cys)	not provided [RCV001585055]	uncertain significance	19	46839551	46839551	Human		name
151821716	CV1354994	single nucleotide variant	NM_004069.6(AP2S1):c.205A>G (p.Ile69Val)	not provided [RCV001934208]	uncertain significance	19	46839527	46839527	Human		name
151719290	CV1421943	single nucleotide variant	NM_004069.6(AP2S1):c.125G>A (p.Arg42Gln)	not provided [RCV001909473]	uncertain significance	19	46846021	46846021	Human		name
155641918	CV1707179	single nucleotide variant	NM_004069.6(AP2S1):c.124C>G (p.Arg42Gly)	not provided [RCV002288109]	uncertain significance	19	46846022	46846022	Human		name
156413061	CV1904709	single nucleotide variant	NM_004069.6(AP2S1):c.130G>A (p.Ala44Thr)	not provided [RCV002588037]	uncertain significance	19	46846016	46846016	Human		name
329848118	CV2667737	single nucleotide variant	NM_004069.6(AP2S1):c.182G>A (p.Arg61His)	not provided [RCV003229304]	uncertain significance	19	46839550	46839550	Human		name
401886674	CV2776685	single nucleotide variant	NM_004069.6(AP2S1):c.250A>G (p.Ile84Val)	Inborn genetic diseases [RCV003366905]\|not provided [RCV004763669]	uncertain significance	19	46839482	46839482	Human	1	name
402519039	CV3002327	single nucleotide variant	NM_004069.6(AP2S1):c.209G>A (p.Cys70Tyr)	not provided [RCV003690149]	uncertain significance	19	46839523	46839523	Human		name
405185624	CV3160156	single nucleotide variant	NM_004069.6(AP2S1):c.236C>T (p.Ala79Val)	not provided [RCV003859211]	uncertain significance	19	46839496	46839496	Human		name
407427952	CV3412250	single nucleotide variant	NM_004069.6(AP2S1):c.161A>G (p.Asn54Ser)	not provided [RCV004592421]	uncertain significance	19	46839571	46839571	Human		name
407515941	CV3469272	single nucleotide variant	NM_004069.6(AP2S1):c.131C>A (p.Ala44Asp)	Inborn genetic diseases [RCV004650098]	uncertain significance	19	46846015	46846015	Human	1	name
597654533	CV3731404	single nucleotide variant	NM_004069.6(AP2S1):c.153G>C (p.Glu51Asp)	not provided [RCV005001585]	uncertain significance	19	46845993	46845993	Human		name
597830484	CV3743037	single nucleotide variant	NM_004069.6(AP2S1):c.239A>G (p.Tyr80Cys)	not provided [RCV005062045]	uncertain significance	19	46839493	46839493	Human		name
12843234	CV379607	single nucleotide variant	NM_004069.6(AP2S1):c.179G>A (p.Arg60His)	not provided [RCV000435863]	uncertain significance	19	46839553	46839553	Human		name
151849015	CV1346209	single nucleotide variant	NM_004069.6(AP2S1):c.334A>T (p.Thr112Ser)	not provided [RCV001978677]	uncertain significance	19	46838542	46838542	Human		name
156410253	CV1888399	single nucleotide variant	NM_004069.6(AP2S1):c.335C>T (p.Thr112Met)	Familial hypocalciuric hypercalcemia 3 [RCV005019635]\|not provided [RCV003071995]	uncertain significance	19	46838541	46838541	Human	1	name
156400903	CV1907904	single nucleotide variant	NM_004069.6(AP2S1):c.364G>A (p.Glu122Lys)	not provided [RCV002584865]	uncertain significance	19	46838512	46838512	Human		name
156126190	CV2223653	single nucleotide variant	NM_004069.6(AP2S1):c.344A>G (p.Asp115Gly)	Inborn genetic diseases [RCV002708165]	uncertain significance	19	46838532	46838532	Human	1	name
405217073	CV3055805	single nucleotide variant	NM_004069.6(AP2S1):c.386C>T (p.Thr129Met)	Familial hypocalciuric hypercalcemia 3 [RCV005030230]\|not provided [RCV003732791]	uncertain significance	19	46838490	46838490	Human	1	name
407487671	CV3414996	single nucleotide variant	NM_004069.6(AP2S1):c.346G>A (p.Glu116Lys)	not specified [RCV004597331]	uncertain significance	19	46838530	46838530	Human		name
597751344	CV3705763	single nucleotide variant	NM_004069.6(AP2S1):c.418T>A (p.Ser140Thr)	Familial hypocalciuric hypercalcemia 3 [RCV005015854]	uncertain significance	19	46838458	46838458	Human	1	name
13488505	CV446154	single nucleotide variant	NM_004069.6(AP2S1):c.302T>C (p.Leu101Pro)	not provided [RCV000523584]	uncertain significance	19	46838765	46838765	Human		name

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