Acp5 Variant Search Result - Rat Genome Database

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316 records found for search term Acp5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150505026	CV1222791	single nucleotide variant	NM_001611.5(ACP5):c.-53A>G	not provided [RCV001621725]	benign	19	11577645	11577645	Human		name
401829969	CV2747388	single nucleotide variant	NM_001611.4(ACP5):c.-89A>G	not provided [RCV003328853]	uncertain significance	19	11577681	11577681	Human		name
150468795	CV1257103	single nucleotide variant	NM_001611.5(ACP5):c.1-68C>T	not provided [RCV001670749]	benign	19	11577385	11577385	Human		name
126728418	CV1018493	single nucleotide variant	NM_001611.5(ACP5):c.736-2A>G	Spondyloenchondrodysplasia with immune dysregulation [RCV001332836]	pathogenic	19	11575254	11575254	Human	1	name
151891594	CV1347126	single nucleotide variant	NM_001611.5(ACP5):c.736-7T>A	Spondyloenchondrodysplasia with immune dysregulation [RCV002039174]	likely benign\|uncertain significance	19	11575259	11575259	Human	1	name
151766413	CV1495997	single nucleotide variant	NM_001611.5(ACP5):c.736-3C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV001863651]	uncertain significance	19	11575255	11575255	Human	1	name
152098266	CV1627042	single nucleotide variant	NM_001611.5(ACP5):c.735+8C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002095158]	likely benign	19	11576235	11576235	Human	1	name
152116502	CV1645705	single nucleotide variant	NM_001611.5(ACP5):c.735+7G>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002175000]	likely benign	19	11576236	11576236	Human	1	name
155991794	CV1990533	single nucleotide variant	NM_001611.5(ACP5):c.389+9C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002618052]	likely benign	19	11576707	11576707	Human	1	name
155947617	CV2068916	single nucleotide variant	NM_001611.5(ACP5):c.736-6C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002862167]	likely benign	19	11575258	11575258	Human	1	name
405201641	CV3073736	single nucleotide variant	NM_001611.5(ACP5):c.735+8C>A	Spondyloenchondrodysplasia with immune dysregulation [RCV003642268]	likely benign	19	11576235	11576235	Human	1	name
38468721	CV960280	single nucleotide variant	NM_001611.5(ACP5):c.261+6T>C	Spondyloenchondrodysplasia with immune dysregulation [RCV001230676]	uncertain significance	19	11577051	11577051	Human	1	name
126735095	CV1021805	single nucleotide variant	NM_001611.5(ACP5):c.262-14T>C	Spondyloenchondrodysplasia with immune dysregulation [RCV001334779]	uncertain significance	19	11576857	11576857	Human	1	name
127295484	CV1127521	single nucleotide variant	NM_001611.5(ACP5):c.262-15A>G	Spondyloenchondrodysplasia with immune dysregulation [RCV001452523]	likely benign	19	11576858	11576858	Human	1	name
127312241	CV1148479	single nucleotide variant	NM_001611.5(ACP5):c.735+18G>A	Spondyloenchondrodysplasia with immune dysregulation [RCV001501858]	likely benign	19	11576225	11576225	Human	1	name
127306868	CV1158398	single nucleotide variant	NM_001611.5(ACP5):c.390-11C>G	Spondyloenchondrodysplasia with immune dysregulation [RCV001516852]	benign	19	11576599	11576599	Human	1	name
150502444	CV1223217	single nucleotide variant	NM_001611.5(ACP5):c.261+55G>A	not provided [RCV001621151]	benign	19	11577002	11577002	Human		name
151837707	CV1468135	single nucleotide variant	NM_001611.5(ACP5):c.262-20G>A	Spondyloenchondrodysplasia with immune dysregulation [RCV001956363]	likely benign	19	11576863	11576863	Human	1	name
152030178	CV1568937	single nucleotide variant	NM_001611.5(ACP5):c.390-11C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002186398]	likely benign	19	11576599	11576599	Human	1	name
152146262	CV1649506	single nucleotide variant	NM_001611.5(ACP5):c.389+15G>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002121086]	likely benign	19	11576701	11576701	Human	1	name
156402903	CV1988800	single nucleotide variant	NM_001611.5(ACP5):c.261+13C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002605796]	likely benign	19	11577044	11577044	Human	1	name
156100353	CV2051078	single nucleotide variant	NM_001611.5(ACP5):c.389+13C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV002824536]	likely benign	19	11576703	11576703	Human	1	name
156098989	CV2087899	deletion	NM_001611.5(ACP5):c.735+10del	Spondyloenchondrodysplasia with immune dysregulation [RCV002848009]	likely benign	19	11576233	11576233	Human	1	name
156275319	CV2133034	single nucleotide variant	NM_001611.5(ACP5):c.390-17C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV003009407]	likely benign	19	11576605	11576605	Human	1	name
156093322	CV2167187	single nucleotide variant	NM_001611.5(ACP5):c.389+17C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV003038299]	likely benign	19	11576699	11576699	Human	1	name
156192987	CV2171346	single nucleotide variant	NM_001611.5(ACP5):c.735+14G>A	Spondyloenchondrodysplasia with immune dysregulation [RCV003024196]	likely benign	19	11576229	11576229	Human	1	name
405005854	CV2884410	single nucleotide variant	NM_001611.5(ACP5):c.261+14A>T	Spondyloenchondrodysplasia with immune dysregulation [RCV003526781]	likely benign	19	11577043	11577043	Human	1	name
405001320	CV2921474	single nucleotide variant	NM_001611.5(ACP5):c.735+15G>C	Spondyloenchondrodysplasia with immune dysregulation [RCV003526340]	likely benign	19	11576228	11576228	Human	1	name
405201633	CV3073735	single nucleotide variant	NM_001611.5(ACP5):c.735+13T>A	Spondyloenchondrodysplasia with immune dysregulation [RCV003642267]	likely benign	19	11576230	11576230	Human	1	name
597942317	CV3757750	single nucleotide variant	NM_001611.5(ACP5):c.735+15G>A	Spondyloenchondrodysplasia with immune dysregulation [RCV005077748]	likely benign	19	11576228	11576228	Human	1	name
597838952	CV3758253	single nucleotide variant	NM_001611.5(ACP5):c.735+12G>C	Spondyloenchondrodysplasia with immune dysregulation [RCV005086088]	likely benign	19	11576231	11576231	Human	1	name
597841984	CV3780764	single nucleotide variant	NM_001611.5(ACP5):c.390-17C>G	Spondyloenchondrodysplasia with immune dysregulation [RCV005116876]	likely benign	19	11576605	11576605	Human	1	name
597884368	CV3815575	single nucleotide variant	NM_001611.5(ACP5):c.736-13C>T	Spondyloenchondrodysplasia with immune dysregulation [RCV005159264]	likely benign	19	11575265	11575265	Human	1	name
597912583	CV3837067	single nucleotide variant	NM_001611.5(ACP5):c.262-19C>A	Spondyloenchondrodysplasia with immune dysregulation [RCV005187898]	likely benign	19	11576862	11576862	Human	1	name
597914714	CV3849174	single nucleotide variant	NM_001611.5(ACP5):c.390-20G>A	Spondyloenchondrodysplasia with immune dysregulation [RCV005189915]	likely benign	19	11576608	11576608	Human	1	name
150513288	CV1211881	single nucleotide variant	NM_001611.5(ACP5):c.735+218C>T	not provided [RCV001598402]	benign	19	11576025	11576025	Human		name
150511076	CV1229346	single nucleotide variant	NM_001611.5(ACP5):c.735+315G>A	not provided [RCV001637274]	benign	19	11575928	11575928	Human		name
150463292	CV1253783	single nucleotide variant	NM_001111034.3(ACP5):c.-88+242A>G	not provided [RCV001669825]	benign	19	11578343	11578343	Human		name
152158413	CV1564409	single nucleotide variant	NM_001611.5(ACP5):c.15G>A (p.Thr5=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002140505]	likely benign	19	11577303	11577303	Human	1	name
156272716	CV2131671	single nucleotide variant	NM_001611.5(ACP5):c.18G>A (p.Ala6=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002988877]	likely benign	19	11577300	11577300	Human	1	name
15149523	CV727897	single nucleotide variant	NM_001611.5(ACP5):c.15G>T (p.Thr5=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002536809]	likely benign	19	11577303	11577303	Human	1	name
151892228	CV1337440	single nucleotide variant	NM_001611.5(ACP5):c.1A>G (p.Met1Val)	Spondyloenchondrodysplasia with immune dysregulation [RCV001943895]	uncertain significance	19	11577317	11577317	Human	1	name
156291158	CV1886974	single nucleotide variant	NM_001611.5(ACP5):c.8T>C (p.Met3Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV003087491]	uncertain significance	19	11577310	11577310	Human	1	name
156072704	CV1893668	single nucleotide variant	NM_001611.5(ACP5):c.90C>T (p.Ala30=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003079593]	likely benign	19	11577228	11577228	Human	1	name
156188223	CV1919462	single nucleotide variant	NM_001611.5(ACP5):c.28C>T (p.Leu10=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002595286]	likely benign	19	11577290	11577290	Human	1	name
156256779	CV1957038	single nucleotide variant	NM_001611.5(ACP5):c.69C>T (p.Thr23=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002576713]	likely benign	19	11577249	11577249	Human	1	name
155966569	CV2048453	deletion	NM_001611.5(ACP5):c.262-15_262-12del	Spondyloenchondrodysplasia with immune dysregulation [RCV002776520]	uncertain significance	19	11576855	11576858	Human	1	name
156190978	CV2086749	single nucleotide variant	NM_001611.5(ACP5):c.51C>A (p.Ser17=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002852137]	likely benign	19	11577267	11577267	Human	1	name
156125848	CV2112327	single nucleotide variant	NM_001611.5(ACP5):c.60T>C (p.Asp20=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002928000]	likely benign	19	11577258	11577258	Human	1	name
156171613	CV2181193	single nucleotide variant	NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)	Spondyloenchondrodysplasia with immune dysregulation [RCV003057240]	uncertain significance	19	11577313	11577313	Human	1	name
404996077	CV2856190	deletion	NM_001611.5(ACP5):c.262-13_262-12del	Spondyloenchondrodysplasia with immune dysregulation [RCV003525636]	likely benign	19	11576855	11576856	Human	1	name
405196200	CV2970115	single nucleotide variant	NM_001611.5(ACP5):c.39G>A (p.Leu13=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003641508]	likely benign	19	11577279	11577279	Human	1	name
15108655	CV716158	single nucleotide variant	NM_001611.5(ACP5):c.30G>T (p.Leu10=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000960532]	likely benign	19	11577288	11577288	Human	1	name
127244736	CV1084358	single nucleotide variant	NM_001611.5(ACP5):c.279A>G (p.Val93=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001416385]	likely benign	19	11576826	11576826	Human	1	name
151776920	CV1342655	single nucleotide variant	NM_001611.5(ACP5):c.13A>G (p.Thr5Ala)	Spondyloenchondrodysplasia with immune dysregulation [RCV001988774]	uncertain significance	19	11577305	11577305	Human	1	name
11547689	CV256768	single nucleotide variant	NM_001611.5(ACP5):c.225C>T (p.Phe75=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001522652]\|not provided [RCV001711555]\|not specified [RCV000248093]	benign	19	11577093	11577093	Human	1	name
405000696	CV2916983	single nucleotide variant	NM_001611.5(ACP5):c.132G>C (p.Thr44=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003526267]	likely benign	19	11577186	11577186	Human	1	name
597876566	CV3810009	single nucleotide variant	NM_001611.5(ACP5):c.183G>A (p.Leu61=)	Spondyloenchondrodysplasia with immune dysregulation [RCV005151730]	likely benign	19	11577135	11577135	Human	1	name
597882379	CV3810732	single nucleotide variant	NM_001611.5(ACP5):c.237A>G (p.Gln79=)	Spondyloenchondrodysplasia with immune dysregulation [RCV005157441]	likely benign	19	11577081	11577081	Human	1	name
597880511	CV3811733	single nucleotide variant	NM_001611.5(ACP5):c.174G>A (p.Val58=)	Spondyloenchondrodysplasia with immune dysregulation [RCV005155564]	likely benign	19	11577144	11577144	Human	1	name
13469013	CV470364	single nucleotide variant	NM_001611.5(ACP5):c.276C>T (p.Asp92=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000560827]\|not provided [RCV004717654]	benign	19	11576829	11576829	Human	1	name
13808809	CV572179	single nucleotide variant	NM_001611.5(ACP5):c.14C>T (p.Thr5Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV000701843]	uncertain significance	19	11577304	11577304	Human	1	name
14730651	CV647651	single nucleotide variant	NM_001611.5(ACP5):c.16G>A (p.Ala6Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV000817493]	uncertain significance	19	11577302	11577302	Human	1	name
15114101	CV716157	single nucleotide variant	NM_001611.5(ACP5):c.132G>A (p.Thr44=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000961610]\|not provided [RCV004704375]	likely benign	19	11577186	11577186	Human	1	name
38457474	CV950661	single nucleotide variant	NM_001611.5(ACP5):c.17C>T (p.Ala6Val)	Inborn genetic diseases [RCV002563708]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001228683]	likely benign\|uncertain significance	19	11577301	11577301	Human	2	name
126746660	CV1013525	single nucleotide variant	NM_001611.5(ACP5):c.68C>T (p.Thr23Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV001326040]	uncertain significance	19	11577250	11577250	Human	1	name
126735234	CV1013526	single nucleotide variant	NM_001611.5(ACP5):c.47C>A (p.Pro16His)	Inborn genetic diseases [RCV004035134]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001324493]	uncertain significance	19	11577271	11577271	Human	2	name
127266392	CV1064611	deletion	NM_001611.5(ACP5):c.257del (p.Phe86fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV001388705]	pathogenic	19	11577061	11577061	Human	1	name
127239207	CV1084354	single nucleotide variant	NM_001611.5(ACP5):c.720C>T (p.His240=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001415280]	likely benign	19	11576258	11576258	Human	1	name
127278317	CV1084355	single nucleotide variant	NM_001611.5(ACP5):c.597C>T (p.Tyr199=)	Inborn genetic diseases [RCV004038038]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001408412]	likely benign	19	11576381	11576381	Human	2	name
127231613	CV1084356	single nucleotide variant	NM_001611.5(ACP5):c.477A>C (p.Thr159=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001413177]	likely benign	19	11576501	11576501	Human	1	name
127242352	CV1084357	single nucleotide variant	NM_001611.5(ACP5):c.327A>G (p.Gly109=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001393325]	likely benign	19	11576778	11576778	Human	1	name
127248107	CV1106118	single nucleotide variant	NM_001611.5(ACP5):c.678A>C (p.Pro226=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001435741]	likely benign	19	11576300	11576300	Human	1	name
127247801	CV1106119	single nucleotide variant	NM_001611.5(ACP5):c.582G>A (p.Ala194=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001424800]	likely benign	19	11576396	11576396	Human	1	name
127296640	CV1127520	single nucleotide variant	NM_001611.5(ACP5):c.381C>T (p.Ser127=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001477418]	likely benign	19	11576724	11576724	Human	1	name
127301991	CV1148480	single nucleotide variant	NM_001611.5(ACP5):c.714C>T (p.Cys238=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001478840]	likely benign	19	11576264	11576264	Human	1	name
127290390	CV1148481	single nucleotide variant	NM_001611.5(ACP5):c.480A>G (p.Leu160=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001495960]	likely benign	19	11576498	11576498	Human	1	name
127315655	CV1148482	single nucleotide variant	NM_001611.5(ACP5):c.351C>T (p.Val117=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001482576]	likely benign	19	11576754	11576754	Human	1	name
127317546	CV1148483	single nucleotide variant	NM_001611.5(ACP5):c.315C>T (p.Tyr105=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001503418]	likely benign	19	11576790	11576790	Human	1	name
151881665	CV1339783	single nucleotide variant	NM_001611.5(ACP5):c.97G>A (p.Asp33Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV001999675]\|not specified [RCV004690228]	uncertain significance	19	11577221	11577221	Human	1	name
151781253	CV1446556	single nucleotide variant	NM_001611.5(ACP5):c.85G>A (p.Val29Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV002046187]	uncertain significance	19	11577233	11577233	Human	1	name
151837937	CV1470062	deletion	NM_001611.5(ACP5):c.259del (p.Gln87fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV001902500]	pathogenic	19	11577059	11577059	Human	1	name
151832878	CV1475317	single nucleotide variant	NM_001611.5(ACP5):c.46C>A (p.Pro16Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV001993884]	uncertain significance	19	11577272	11577272	Human	1	name
151740287	CV1490537	single nucleotide variant	NM_001611.5(ACP5):c.80G>A (p.Arg27His)	Spondyloenchondrodysplasia with immune dysregulation [RCV001985175]	uncertain significance	19	11577238	11577238	Human	1	name
151849062	CV1510732	deletion	NM_001611.5(ACP5):c.136del (p.Arg46fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV001957731]	pathogenic	19	11577182	11577182	Human	1	name
152027883	CV1521091	single nucleotide variant	NM_001611.5(ACP5):c.780T>C (p.Ala260=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002085278]	likely benign	19	11575208	11575208	Human	1	name
152157917	CV1542123	single nucleotide variant	NM_001611.5(ACP5):c.765C>T (p.Tyr255=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002202920]	likely benign	19	11575223	11575223	Human	1	name
152114415	CV1552953	single nucleotide variant	NM_001611.5(ACP5):c.417G>A (p.Leu139=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002197207]	likely benign	19	11576561	11576561	Human	1	name
152131461	CV1553182	single nucleotide variant	NM_001611.5(ACP5):c.354T>C (p.Ser118=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002199380]	likely benign	19	11576751	11576751	Human	1	name
152134205	CV1564539	single nucleotide variant	NM_001611.5(ACP5):c.756C>T (p.Gly252=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002199726]	likely benign	19	11575232	11575232	Human	1	name
152151481	CV1578229	single nucleotide variant	NM_001611.5(ACP5):c.420C>T (p.His140=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002158262]	likely benign	19	11576558	11576558	Human	1	name
152145179	CV1582628	single nucleotide variant	NM_001611.5(ACP5):c.825C>A (p.Pro275=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002201129]	likely benign	19	11575163	11575163	Human	1	name
152133483	CV1585258	single nucleotide variant	NM_001611.5(ACP5):c.663C>G (p.Val221=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002083189]	likely benign	19	11576315	11576315	Human	1	name
152045771	CV1591128	single nucleotide variant	NM_001611.5(ACP5):c.438C>T (p.Thr146=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002188815]	likely benign	19	11576540	11576540	Human	1	name
152061031	CV1597142	single nucleotide variant	NM_001611.5(ACP5):c.909T>C (p.Thr303=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002208652]	likely benign	19	11575079	11575079	Human	1	name
152165228	CV1611298	single nucleotide variant	NM_001611.5(ACP5):c.642C>T (p.His214=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002141678]	likely benign	19	11576336	11576336	Human	1	name
152120755	CV1613092	single nucleotide variant	NM_001611.5(ACP5):c.585C>G (p.Ala195=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002154224]	likely benign	19	11576393	11576393	Human	1	name
152155401	CV1629545	single nucleotide variant	NM_001611.5(ACP5):c.330C>T (p.Asn110=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002202579]	likely benign	19	11576775	11576775	Human	1	name
152129785	CV1630837	single nucleotide variant	NM_001611.5(ACP5):c.660G>C (p.Leu220=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002118930]	likely benign	19	11576318	11576318	Human	1	name
152088154	CV1638857	single nucleotide variant	NM_001611.5(ACP5):c.777G>T (p.Gly259=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002150230]	likely benign	19	11575211	11575211	Human	1	name
152142618	CV1639293	single nucleotide variant	NM_001611.5(ACP5):c.636C>T (p.Ala212=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002178258]	likely benign	19	11576342	11576342	Human	1	name
152044007	CV1643287	single nucleotide variant	NM_001611.5(ACP5):c.963G>A (p.Arg321=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002206710]	likely benign	19	11575025	11575025	Human	1	name
152080495	CV1650097	single nucleotide variant	NM_001611.5(ACP5):c.579G>A (p.Ala193=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002092777]	likely benign	19	11576399	11576399	Human	1	name
152053240	CV1659295	single nucleotide variant	NM_001611.5(ACP5):c.783G>A (p.Gly261=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002189665]	likely benign	19	11575205	11575205	Human	1	name
155951023	CV1880121	single nucleotide variant	NM_001611.5(ACP5):c.658C>T (p.Leu220=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003074152]	likely benign	19	11576320	11576320	Human	1	name
156067595	CV1883098	single nucleotide variant	NM_001611.5(ACP5):c.702T>G (p.Thr234=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003079431]	likely benign	19	11576276	11576276	Human	1	name
156385297	CV1891698	single nucleotide variant	NM_001611.5(ACP5):c.531C>T (p.Asp177=)	Inborn genetic diseases [RCV004963390]\|Spondyloenchondrodysplasia with immune dysregulation [RCV003067507]	likely benign	19	11576447	11576447	Human	2	name
156403755	CV1901767	single nucleotide variant	NM_001611.5(ACP5):c.56C>T (p.Ala19Val)	Inborn genetic diseases [RCV004068798]\|Spondyloenchondrodysplasia with immune dysregulation [RCV002585276]	uncertain significance	19	11577262	11577262	Human	2	name
156019757	CV1909412	single nucleotide variant	NM_001611.5(ACP5):c.459T>C (p.Phe153=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002619333]	likely benign	19	11576519	11576519	Human	1	name
156377306	CV1913895	single nucleotide variant	NM_001611.5(ACP5):c.730C>T (p.Leu244=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002603689]	likely benign	19	11576248	11576248	Human	1	name
10052754	CV195282	single nucleotide variant	NM_001611.5(ACP5):c.543C>A (p.Ala181=)	Spondyloenchondrodysplasia with immune dysregulation [RCV001078878]\|not provided [RCV000179369]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	11576435	11576435	Human	1	name
155917151	CV2029914	single nucleotide variant	NM_001611.5(ACP5):c.930G>A (p.Ser310=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002750523]	likely benign	19	11575058	11575058	Human	1	name
156210867	CV2032273	single nucleotide variant	NM_001611.5(ACP5):c.738C>T (p.Tyr246=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002711758]	likely benign	19	11575250	11575250	Human	1	name
156283718	CV2051578	single nucleotide variant	NM_001611.5(ACP5):c.870T>C (p.Gly290=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002832930]	likely benign	19	11575118	11575118	Human	1	name
156146665	CV2052761	single nucleotide variant	NM_001611.5(ACP5):c.612C>A (p.Gly204=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002801153]	likely benign	19	11576366	11576366	Human	1	name
156209480	CV2074167	single nucleotide variant	NM_001611.5(ACP5):c.351C>A (p.Val117=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002829242]	likely benign	19	11576754	11576754	Human	1	name
156088218	CV2080144	single nucleotide variant	NM_001611.5(ACP5):c.366A>C (p.Ala122=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002847619]	likely benign	19	11576739	11576739	Human	1	name
156244726	CV2086148	single nucleotide variant	NM_001611.5(ACP5):c.651C>A (p.Thr217=)	Spondyloenchondrodysplasia with immune dysregulation [RCV002876726]	likely benign	19	11576327	11576327	Human	1	name
156309479	CV2150191	single nucleotide variant	NM_001611.5(ACP5):c.333T>C (p.His111=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003028493]	likely benign	19	11576772	11576772	Human	1	name
405013837	CV2915170	single nucleotide variant	NM_001611.5(ACP5):c.960G>A (p.Pro320=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003527526]	likely benign	19	11575028	11575028	Human	1	name
405193883	CV2948976	single nucleotide variant	NM_001611.5(ACP5):c.309C>T (p.Pro103=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003641208]	likely benign	19	11576796	11576796	Human	1	name
405196927	CV2983024	single nucleotide variant	NM_001611.5(ACP5):c.954G>A (p.Arg318=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003641614]	likely benign	19	11575034	11575034	Human	1	name
405197670	CV3001687	single nucleotide variant	NM_001611.5(ACP5):c.822C>G (p.Val274=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003641726]	likely benign	19	11575166	11575166	Human	1	name
405187391	CV3005221	single nucleotide variant	NM_001611.5(ACP5):c.807G>A (p.Arg269=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003640392]	likely benign	19	11575181	11575181	Human	1	name
405190316	CV3033685	single nucleotide variant	NM_001611.5(ACP5):c.324C>T (p.Ala108=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003640763]	likely benign	19	11576781	11576781	Human	1	name
405201281	CV3129002	single nucleotide variant	NM_001611.5(ACP5):c.670C>T (p.Leu224=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003822045]	likely benign	19	11576308	11576308	Human	1	name
405105380	CV3139835	single nucleotide variant	NM_001611.5(ACP5):c.510G>A (p.Gln170=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003835246]	likely benign	19	11576468	11576468	Human	1	name
405076323	CV3140786	single nucleotide variant	NM_001611.5(ACP5):c.759G>A (p.Val253=)	Spondyloenchondrodysplasia with immune dysregulation [RCV003833749]	likely benign	19	11575229	11575229	Human	1	name
408380475	CV3501146	single nucleotide variant	NM_001611.5(ACP5):c.702T>C (p.Thr234=)	not provided [RCV004727234]	likely benign	19	11576276	11576276	Human		name
597637305	CV3640152	single nucleotide variant	NM_001611.5(ACP5):c.38T>C (p.Leu13Ser)	Inborn genetic diseases [RCV004970140]	likely benign	19	11577280	11577280	Human	1	name
597890211	CV3749261	single nucleotide variant	NM_001611.5(ACP5):c.918C>T (p.Tyr306=)	Spondyloenchondrodysplasia with immune dysregulation [RCV005071045]	likely benign	19	11575070	11575070	Human	1	name
597967554	CV3760669	single nucleotide variant	NM_001611.5(ACP5):c.477A>G (p.Thr159=)	Spondyloenchondrodysplasia with immune dysregulation [RCV005083236]	likely benign	19	11576501	11576501	Human	1	name
13465897	CV469728	single nucleotide variant	NM_001611.5(ACP5):c.855T>C (p.Thr285=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000548882]\|not provided [RCV001653895]	benign	19	11575133	11575133	Human	1	name
13468086	CV469744	single nucleotide variant	NM_001611.5(ACP5):c.693C>T (p.Tyr231=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000557211]	benign	19	11576285	11576285	Human	1	name
13609385	CV532694	single nucleotide variant	NM_001611.5(ACP5):c.601C>T (p.Leu201=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000640596]\|not provided [RCV000996764]	benign\|likely benign	19	11576377	11576377	Human	1	name
13609383	CV533089	single nucleotide variant	NM_001611.5(ACP5):c.861C>T (p.Asp287=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000640595]\|not provided [RCV004717696]	benign	19	11575127	11575127	Human	1	name
14733132	CV647650	single nucleotide variant	NM_001611.5(ACP5):c.79C>T (p.Arg27Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV000818588]	uncertain significance	19	11577239	11577239	Human	1	name
15169233	CV704747	single nucleotide variant	NM_001611.5(ACP5):c.621C>T (p.Pro207=)	ACP5-related disorder [RCV003970698]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001443954]	likely benign	19	11576357	11576357	Human	1	name , trait , alternate_id
15174436	CV727896	single nucleotide variant	NM_001611.5(ACP5):c.955C>T (p.Leu319=)	ACP5-related disorder [RCV003948343]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000884132]	benign\|likely benign	19	11575033	11575033	Human	1	name , trait , alternate_id
15180765	CV741576	single nucleotide variant	NM_001611.5(ACP5):c.522G>A (p.Arg174=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000907431]	likely benign	19	11576456	11576456	Human	1	name
15128885	CV756702	single nucleotide variant	NM_001611.5(ACP5):c.516T>A (p.Pro172=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000919730]	likely benign	19	11576462	11576462	Human	1	name
15104185	CV756703	single nucleotide variant	NM_001611.5(ACP5):c.495T>C (p.Asp165=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000915303]	likely benign	19	11576483	11576483	Human	1	name
15181344	CV772380	single nucleotide variant	NM_001611.5(ACP5):c.828C>T (p.Asn276=)	Spondyloenchondrodysplasia with immune dysregulation [RCV000930104]	likely benign	19	11575160	11575160	Human	1	name
26885919	CV847234	single nucleotide variant	NM_001611.5(ACP5):c.61G>C (p.Gly21Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV001043846]	uncertain significance	19	11577257	11577257	Human	1	name
38458022	CV950659	single nucleotide variant	NM_001611.5(ACP5):c.91G>A (p.Val31Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV001228789]	uncertain significance	19	11577227	11577227	Human	1	name
126919051	CV1051086	single nucleotide variant	NM_001611.5(ACP5):c.136C>T (p.Arg46Trp)	Spondyloenchondrodysplasia with immune dysregulation [RCV001362074]	uncertain significance	19	11577182	11577182	Human	1	name
150528026	CV1301050	single nucleotide variant	NM_001611.5(ACP5):c.100T>C (p.Trp34Arg)	not provided [RCV001754910]	uncertain significance	19	11577218	11577218	Human		name
151846919	CV1368692	single nucleotide variant	NM_001611.5(ACP5):c.191A>G (p.Asp64Gly)	Spondyloenchondrodysplasia with immune dysregulation [RCV001936830]	uncertain significance	19	11577127	11577127	Human	1	name
151779477	CV1378655	deletion	NM_001611.5(ACP5):c.526del (p.Arg176fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV001875223]	pathogenic	19	11576452	11576452	Human	1	name
151773479	CV1424028	single nucleotide variant	NM_001611.5(ACP5):c.289C>T (p.Arg97Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV002025587]	uncertain significance	19	11576816	11576816	Human	1	name
151881901	CV1439025	deletion	NM_001611.5(ACP5):c.361del (p.Ile121fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV001999723]	pathogenic	19	11576744	11576744	Human	1	name
151886601	CV1441603	deletion	NM_001611.5(ACP5):c.799del (p.Ser267fs)	ACP5-related disorder [RCV004756330]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001942203]	pathogenic\|likely pathogenic	19	11575189	11575189	Human	1	name , trait , alternate_id
151799289	CV1467348	single nucleotide variant	NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV001898909]	pathogenic	19	11577096	11577096	Human	1	name
151868347	CV1516615	single nucleotide variant	NM_001611.5(ACP5):c.166C>T (p.Arg56Trp)	Inborn genetic diseases [RCV002608074]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001980985]	uncertain significance	19	11577152	11577152	Human	2	name
156070825	CV2051111	single nucleotide variant	NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)	Spondyloenchondrodysplasia with immune dysregulation [RCV002797398]	uncertain significance	19	11577166	11577166	Human	1	name
156030378	CV2059104	single nucleotide variant	NM_001611.5(ACP5):c.144G>A (p.Met48Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV002796026]	uncertain significance	19	11577174	11577174	Human	1	name
155964970	CV2134754	single nucleotide variant	NM_001611.5(ACP5):c.188C>T (p.Ala63Val)	Spondyloenchondrodysplasia with immune dysregulation [RCV002972566]	uncertain significance	19	11577130	11577130	Human	1	name
156121931	CV2147976	single nucleotide variant	NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)	Spondyloenchondrodysplasia with immune dysregulation [RCV003003016]	uncertain significance	19	11577188	11577188	Human	1	name
156012769	CV2172392	single nucleotide variant	NM_001611.5(ACP5):c.109G>A (p.Val37Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV003035331]	uncertain significance	19	11577209	11577209	Human	1	name
11087599	CV227493	single nucleotide variant	NM_001611.5(ACP5):c.131C>T (p.Thr44Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV000210945]\|not provided [RCV002223820]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	19	11577187	11577187	Human	1	name
11087600	CV227494	duplication	NM_001611.5(ACP5):c.816dup (p.Lys273fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV000210950]	pathogenic	19	11575171	11575172	Human	1	name
11642711	CV271210	single nucleotide variant	NM_001611.5(ACP5):c.127C>T (p.His43Tyr)	not provided [RCV000380639]	uncertain significance	19	11577191	11577191	Human		name
405771359	CV3299501	single nucleotide variant	NM_001611.5(ACP5):c.295C>A (p.Leu99Ile)	Inborn genetic diseases [RCV004435343]	uncertain significance	19	11576810	11576810	Human	1	name
8567954	CV38784	single nucleotide variant	NM_001611.5(ACP5):c.266C>T (p.Thr89Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV000022705]	pathogenic	19	11576839	11576839	Human	1	name
13464776	CV469323	single nucleotide variant	NM_001611.5(ACP5):c.245A>G (p.Asn82Ser)	Spondyloenchondrodysplasia with immune dysregulation [RCV000543872]	uncertain significance	19	11577073	11577073	Human	1	name
13499010	CV470366	single nucleotide variant	NM_001611.5(ACP5):c.137G>A (p.Arg46Gln)	Spondyloenchondrodysplasia with immune dysregulation [RCV000531109]	likely benign\|uncertain significance	19	11577181	11577181	Human	1	name
13821369	CV570471	single nucleotide variant	NM_001611.5(ACP5):c.290G>A (p.Arg97His)	Spondyloenchondrodysplasia with immune dysregulation [RCV000695790]	uncertain significance	19	11576815	11576815	Human	1	name
13811864	CV570476	single nucleotide variant	NM_001611.5(ACP5):c.167G>A (p.Arg56Gln)	Spondyloenchondrodysplasia with immune dysregulation [RCV000703324]	uncertain significance	19	11577151	11577151	Human	1	name
13806545	CV574863	single nucleotide variant	NM_001611.5(ACP5):c.238G>A (p.Asp80Asn)	Inborn genetic diseases [RCV002544744]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000686302]	uncertain significance	19	11577080	11577080	Human	2	name
14711527	CV647648	single nucleotide variant	NM_001611.5(ACP5):c.163G>A (p.Ala55Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV000793506]	uncertain significance	19	11577155	11577155	Human	1	name
14735431	CV647649	single nucleotide variant	NM_001611.5(ACP5):c.149A>G (p.Asn50Ser)	Inborn genetic diseases [RCV002537154]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000803148]	uncertain significance	19	11577169	11577169	Human	2	name
26917656	CV847233	single nucleotide variant	NM_001611.5(ACP5):c.277G>A (p.Val93Ile)	Inborn genetic diseases [RCV002553823]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001057168]	uncertain significance	19	11576828	11576828	Human	2	name
38462431	CV938564	single nucleotide variant	NM_001611.5(ACP5):c.249C>G (p.Asp83Glu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001212203]	uncertain significance	19	11577069	11577069	Human	1	name
126760770	CV1013521	single nucleotide variant	NM_001611.5(ACP5):c.919A>T (p.Ile307Phe)	Spondyloenchondrodysplasia with immune dysregulation [RCV001318436]	uncertain significance	19	11575069	11575069	Human	1	name
126744164	CV1013522	single nucleotide variant	NM_001611.5(ACP5):c.839G>A (p.Arg280His)	Spondyloenchondrodysplasia with immune dysregulation [RCV001325726]	uncertain significance	19	11575149	11575149	Human	1	name
126758151	CV1013523	single nucleotide variant	NM_001611.5(ACP5):c.542C>A (p.Ala181Asp)	Spondyloenchondrodysplasia with immune dysregulation [RCV001317696]	uncertain significance	19	11576436	11576436	Human	1	name
126773058	CV1013524	single nucleotide variant	NM_001611.5(ACP5):c.393C>G (p.Asn131Lys)	Inborn genetic diseases [RCV004035119]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001324106]	uncertain significance	19	11576585	11576585	Human	2	name
126735103	CV1021804	single nucleotide variant	NM_001611.5(ACP5):c.682C>G (p.Leu228Val)	Spondyloenchondrodysplasia with immune dysregulation [RCV001334780]	uncertain significance	19	11576296	11576296	Human	1	name
126769676	CV1034093	single nucleotide variant	NM_001611.5(ACP5):c.851G>A (p.Gly284Glu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001344053]	uncertain significance	19	11575137	11575137	Human	1	name
126772547	CV1034094	single nucleotide variant	NM_001611.5(ACP5):c.804G>T (p.Lys268Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV001345677]	uncertain significance	19	11575184	11575184	Human	1	name
126735350	CV1034095	single nucleotide variant	NM_001611.5(ACP5):c.619C>A (p.Pro207Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV001350078]	uncertain significance	19	11576359	11576359	Human	1	name
126755181	CV1034096	single nucleotide variant	NM_001611.5(ACP5):c.413G>A (p.Arg138His)	Inborn genetic diseases [RCV004035879]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001338989]	likely benign\|uncertain significance	19	11576565	11576565	Human	2	name
126915278	CV1051081	single nucleotide variant	NM_001611.5(ACP5):c.914C>T (p.Thr305Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV001370822]	uncertain significance	19	11575074	11575074	Human	1	name
126915447	CV1051082	single nucleotide variant	NM_001611.5(ACP5):c.872G>A (p.Gly291Asp)	Spondyloenchondrodysplasia with immune dysregulation [RCV001359991]	uncertain significance	19	11575116	11575116	Human	1	name
126910125	CV1051083	single nucleotide variant	NM_001611.5(ACP5):c.611G>A (p.Gly204Asp)	Spondyloenchondrodysplasia with immune dysregulation [RCV001368785]	uncertain significance	19	11576367	11576367	Human	1	name
126912521	CV1051084	single nucleotide variant	NM_001611.5(ACP5):c.527G>A (p.Arg176Gln)	Inborn genetic diseases [RCV003298559]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001358844]	uncertain significance	19	11576451	11576451	Human	2	name
126914760	CV1051085	single nucleotide variant	NM_001611.5(ACP5):c.421T>G (p.Phe141Val)	Inborn genetic diseases [RCV002547727]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001359654]	uncertain significance	19	11576557	11576557	Human	2	name
127256638	CV1064610	single nucleotide variant	NM_001611.5(ACP5):c.733C>T (p.Gln245Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV001386586]	pathogenic	19	11576245	11576245	Human	1	name
151885875	CV1341040	single nucleotide variant	NM_001611.5(ACP5):c.434A>T (p.Gln145Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001962641]	uncertain significance	19	11576544	11576544	Human	1	name
151786868	CV1345523	single nucleotide variant	NM_001611.5(ACP5):c.340C>T (p.Leu114Phe)	Inborn genetic diseases [RCV002553474]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001897782]	uncertain significance	19	11576765	11576765	Human	2	name
151812922	CV1355546	single nucleotide variant	NM_001611.5(ACP5):c.334G>A (p.Asp112Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV002012620]\|not provided [RCV002274245]	uncertain significance	19	11576771	11576771	Human	1	name
151732036	CV1355551	single nucleotide variant	NM_001611.5(ACP5):c.832T>C (p.Tyr278His)	Spondyloenchondrodysplasia with immune dysregulation [RCV001984307]	uncertain significance	19	11575156	11575156	Human	1	name
151724399	CV1357000	single nucleotide variant	NM_001611.5(ACP5):c.965G>A (p.Arg322Gln)	Spondyloenchondrodysplasia with immune dysregulation [RCV001966400]	uncertain significance	19	11575023	11575023	Human	1	name
151799644	CV1376870	single nucleotide variant	NM_001611.5(ACP5):c.581C>T (p.Ala194Val)	Spondyloenchondrodysplasia with immune dysregulation [RCV001932187]	uncertain significance	19	11576397	11576397	Human	1	name
151844079	CV1381339	single nucleotide variant	NM_001611.5(ACP5):c.775G>A (p.Gly259Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV001881717]	uncertain significance	19	11575213	11575213	Human	1	name
151838837	CV1382802	single nucleotide variant	NM_001611.5(ACP5):c.758T>C (p.Val253Ala)	Spondyloenchondrodysplasia with immune dysregulation [RCV002031576]	uncertain significance	19	11575230	11575230	Human	1	name
151822004	CV1385242	single nucleotide variant	NM_001611.5(ACP5):c.959C>T (p.Pro320Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001975827]\|not provided [RCV004694067]	uncertain significance	19	11575029	11575029	Human	1	name
151851760	CV1386351	single nucleotide variant	NM_001611.5(ACP5):c.964C>G (p.Arg322Gly)	Spondyloenchondrodysplasia with immune dysregulation [RCV001937447]	uncertain significance	19	11575024	11575024	Human	1	name
151715721	CV1392806	single nucleotide variant	NM_001611.5(ACP5):c.973C>T (p.Pro325Ser)	Inborn genetic diseases [RCV004970461]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001908927]	uncertain significance	19	11575015	11575015	Human	2	name
151880379	CV1405864	single nucleotide variant	NM_001611.5(ACP5):c.806G>A (p.Arg269Gln)	Inborn genetic diseases [RCV002561411]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001940932]	uncertain significance	19	11575182	11575182	Human	2	name
151830453	CV1406671	single nucleotide variant	NM_001611.5(ACP5):c.781G>T (p.Gly261Trp)	Spondyloenchondrodysplasia with immune dysregulation [RCV002030751]	uncertain significance	19	11575207	11575207	Human	1	name
151862779	CV1409138	single nucleotide variant	NM_001611.5(ACP5):c.548C>G (p.Thr183Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV001905512]	uncertain significance	19	11576430	11576430	Human	1	name
151822805	CV1415075	single nucleotide variant	NM_001611.5(ACP5):c.871G>C (p.Gly291Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV001954929]	uncertain significance	19	11575117	11575117	Human	1	name
151747564	CV1432418	single nucleotide variant	NM_001611.5(ACP5):c.604G>C (p.Val202Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001985913]	uncertain significance	19	11576374	11576374	Human	1	name
151760784	CV1448679	single nucleotide variant	NM_001611.5(ACP5):c.406T>C (p.Phe136Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001949115]	uncertain significance	19	11576572	11576572	Human	1	name
151782813	CV1454736	single nucleotide variant	NM_001611.5(ACP5):c.712T>C (p.Cys238Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV001951243]	pathogenic	19	11576266	11576266	Human	1	name
151813885	CV1460403	single nucleotide variant	NM_001611.5(ACP5):c.383A>G (p.Lys128Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV001878542]	uncertain significance	19	11576722	11576722	Human	1	name
151828260	CV1465366	single nucleotide variant	NM_001611.5(ACP5):c.721G>A (p.Asp241Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV002014054]	pathogenic\|uncertain significance	19	11576257	11576257	Human	1	name
151717126	CV1472925	single nucleotide variant	NM_001611.5(ACP5):c.854C>T (p.Thr285Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV002039500]	uncertain significance	19	11575134	11575134	Human	1	name
151866839	CV1479249	single nucleotide variant	NM_001611.5(ACP5):c.500T>C (p.Phe167Ser)	Spondyloenchondrodysplasia with immune dysregulation [RCV002035159]	uncertain significance	19	11576478	11576478	Human	1	name
151813368	CV1492057	single nucleotide variant	NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV002029191]	uncertain significance	19	11575140	11575140	Human	1	name
151741184	CV1492525	single nucleotide variant	NM_001611.5(ACP5):c.766G>A (p.Val256Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV002042244]	uncertain significance	19	11575222	11575222	Human	1	name
151723681	CV1500324	single nucleotide variant	NM_001611.5(ACP5):c.331C>T (p.His111Tyr)	Spondyloenchondrodysplasia with immune dysregulation [RCV001910077]	uncertain significance	19	11576774	11576774	Human	1	name
151853838	CV1510903	single nucleotide variant	NM_001611.5(ACP5):c.418C>T (p.His140Tyr)	Spondyloenchondrodysplasia with immune dysregulation [RCV001979283]\|not specified [RCV002469443]	uncertain significance	19	11576560	11576560	Human	1	name
155643324	CV1706665	single nucleotide variant	NM_001611.5(ACP5):c.772A>C (p.Ser258Arg)	See cases [RCV002287740]\|not provided [RCV003418440]	likely pathogenic\|uncertain significance	19	11575216	11575216	Human		name
155692471	CV1775244	single nucleotide variant	NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV002299387]	uncertain significance	19	11575068	11575068	Human	1	name
155749307	CV1775395	single nucleotide variant	NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV002304513]	uncertain significance	19	11576361	11576361	Human	1	name
156406983	CV1878521	single nucleotide variant	NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)	Spondyloenchondrodysplasia with immune dysregulation [RCV003070681]	uncertain significance	19	11575233	11575233	Human	1	name
156409729	CV1881579	single nucleotide variant	NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV003071790]	uncertain significance	19	11576566	11576566	Human	1	name
156342115	CV1896895	single nucleotide variant	NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)	Spondyloenchondrodysplasia with immune dysregulation [RCV003090423]	uncertain significance	19	11575066	11575066	Human	1	name
156213139	CV1902589	single nucleotide variant	NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)	Spondyloenchondrodysplasia with immune dysregulation [RCV003084681]	uncertain significance	19	11575186	11575186	Human	1	name
156213180	CV1902597	single nucleotide variant	NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)	Spondyloenchondrodysplasia with immune dysregulation [RCV003084683]	uncertain significance	19	11576458	11576458	Human	1	name
156442735	CV1948843	single nucleotide variant	NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV003113087]	uncertain significance	19	11576411	11576411	Human	1	name
10049073	CV195616	single nucleotide variant	NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)	ACP5-related disorder [RCV003955090]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000537794]\|not provided [RCV000514245]\|not specified [RCV000179812]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	11575174	11575174	Human	2	name , trait , alternate_id
10049073	CV195616	single nucleotide variant	NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)	ACP5-related disorder [RCV003955090]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000537794]\|not provided [RCV000514245]\|not specified [RCV000179812]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	11575174	11575175	Human	2	name , trait , alternate_id
156130098	CV1962660	duplication	NM_001611.5(ACP5):c.372dup (p.Lys125Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV002572194]	pathogenic	19	11576732	11576733	Human	1	name
156284065	CV1968118	single nucleotide variant	NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV002598491]	uncertain significance	19	11576720	11576720	Human	1	name
156059649	CV2008193	single nucleotide variant	NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)	Spondyloenchondrodysplasia with immune dysregulation [RCV002705340]	uncertain significance	19	11575086	11575086	Human	1	name
156008664	CV2011315	single nucleotide variant	NM_001611.5(ACP5):c.622G>T (p.Val208Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV002690394]	uncertain significance	19	11576356	11576356	Human	1	name
156121694	CV2015974	single nucleotide variant	NM_001611.5(ACP5):c.578C>T (p.Ala193Val)	Spondyloenchondrodysplasia with immune dysregulation [RCV002696061]	uncertain significance	19	11576400	11576400	Human	1	name
156050809	CV2027309	single nucleotide variant	NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)	Spondyloenchondrodysplasia with immune dysregulation [RCV002736504]	uncertain significance	19	11575018	11575018	Human	1	name
156245197	CV2029354	single nucleotide variant	NM_001611.5(ACP5):c.332A>G (p.His111Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV002745803]	uncertain significance	19	11576773	11576773	Human	1	name
156116578	CV2035576	single nucleotide variant	NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV002785616]	uncertain significance	19	11576807	11576807	Human	1	name
156371073	CV2048825	single nucleotide variant	NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV002814285]	uncertain significance	19	11576743	11576743	Human	1	name
156202872	CV2076561	single nucleotide variant	NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV002852529]	uncertain significance	19	11575012	11575012	Human	1	name
156145289	CV2109620	single nucleotide variant	NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)	Spondyloenchondrodysplasia with immune dysregulation [RCV002915059]	uncertain significance	19	11575039	11575039	Human	1	name
156292581	CV2111482	single nucleotide variant	NM_001611.5(ACP5):c.532G>A (p.Val178Met)	Inborn genetic diseases [RCV004066297]\|Spondyloenchondrodysplasia with immune dysregulation [RCV002922215]	uncertain significance	19	11576446	11576446	Human	2	name
156016872	CV2114515	single nucleotide variant	NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV002909413]	uncertain significance	19	11576395	11576395	Human	1	name
156084932	CV2138448	single nucleotide variant	NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV002979390]	uncertain significance	19	11576408	11576408	Human	1	name
156282600	CV2186937	single nucleotide variant	NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV003044829]	pathogenic	19	11576428	11576428	Human	1	name
155915498	CV2274216	single nucleotide variant	NM_001611.5(ACP5):c.883G>A (p.Val295Met)	Inborn genetic diseases [RCV002858894]	uncertain significance	19	11575105	11575105	Human	1	name
156275073	CV2279902	single nucleotide variant	NM_001611.5(ACP5):c.794A>G (p.Asp265Gly)	Inborn genetic diseases [RCV002832549]	uncertain significance	19	11575194	11575194	Human	1	name
156362245	CV2323105	single nucleotide variant	NM_001611.5(ACP5):c.386G>T (p.Arg129Leu)	Inborn genetic diseases [RCV002941519]	uncertain significance	19	11576719	11576719	Human	1	name
11545422	CV256766	single nucleotide variant	NM_001611.5(ACP5):c.598G>A (p.Val200Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV001522650]\|not provided [RCV001539664]\|not specified [RCV000245115]	benign	19	11576380	11576380	Human	1	name
11551627	CV256767	single nucleotide variant	NM_001611.5(ACP5):c.442G>A (p.Val148Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV001522651]\|not provided [RCV001651151]\|not specified [RCV000253285]	benign	19	11576536	11576536	Human	1	name
401764696	CV2728034	single nucleotide variant	NM_001611.5(ACP5):c.743A>G (p.Gln248Arg)	Inborn genetic diseases [RCV003300990]	uncertain significance	19	11575245	11575245	Human	1	name
401856659	CV2752646	single nucleotide variant	NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)	Spondyloenchondrodysplasia with immune dysregulation [RCV003340984]	uncertain significance	19	11576394	11576394	Human	1	name
401855479	CV2752945	single nucleotide variant	NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV003337999]	uncertain significance	19	11576545	11576545	Human	1	name
401916730	CV2829461	single nucleotide variant	NM_001611.5(ACP5):c.613C>T (p.His205Tyr)	Spondyloenchondrodysplasia with immune dysregulation [RCV003641101]\|not provided [RCV003443505]	uncertain significance	19	11576365	11576365	Human	1	name
405010981	CV2905375	single nucleotide variant	NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV003527228]	pathogenic	19	11576360	11576360	Human	1	name
405188729	CV3018410	single nucleotide variant	NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV003640551]	uncertain significance	19	11576776	11576776	Human	1	name
405190415	CV3033806	single nucleotide variant	NM_001611.5(ACP5):c.622G>C (p.Val208Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV003640773]	uncertain significance	19	11576356	11576356	Human	1	name
405103341	CV3116227	single nucleotide variant	NM_001611.5(ACP5):c.637G>A (p.Glu213Lys)	Spondyloenchondrodysplasia with immune dysregulation [RCV003811943]	uncertain significance	19	11576341	11576341	Human	1	name
405771480	CV3299521	single nucleotide variant	NM_001611.5(ACP5):c.461T>C (p.Met154Thr)	Inborn genetic diseases [RCV004435363]	uncertain significance	19	11576517	11576517	Human	1	name
597859251	CV3785852	single nucleotide variant	NM_001611.5(ACP5):c.461T>G (p.Met154Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV005133745]	uncertain significance	19	11576517	11576517	Human	1	name
8567955	CV38785	single nucleotide variant	NM_001611.5(ACP5):c.667C>T (p.Gln223Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV000022706]	pathogenic	19	11576311	11576311	Human	1	name
8567956	CV38786	single nucleotide variant	NM_001611.5(ACP5):c.791T>A (p.Met264Lys)	Spondyloenchondrodysplasia with immune dysregulation [RCV000022707]	pathogenic\|likely pathogenic\|uncertain significance	19	11575197	11575197	Human	1	name
8555277	CV38787	single nucleotide variant	NM_001611.5(ACP5):c.643G>C (p.Gly215Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV000022708]	pathogenic	19	11576335	11576335	Human	1	name
8555278	CV38788	single nucleotide variant	NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	ACP5-related disorder [RCV003421931]\|Inborn genetic diseases [RCV000624296]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000022709]	pathogenic\|likely pathogenic	19	11576780	11576780	Human	2	name , trait , alternate_id
8567958	CV38790	single nucleotide variant	NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)	Spondyloenchondrodysplasia with immune dysregulation [RCV000022711]	pathogenic\|uncertain significance	19	11576376	11576376	Human	1	name
598209916	CV3894998	single nucleotide variant	NM_001611.5(ACP5):c.359A>G (p.Gln120Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV005358460]	uncertain significance	19	11576746	11576746	Human	1	name
598250668	CV3942310	single nucleotide variant	NM_001611.5(ACP5):c.571C>G (p.Gln191Glu)	Inborn genetic diseases [RCV005298373]	uncertain significance	19	11576407	11576407	Human	1	name
598250713	CV3942320	single nucleotide variant	NM_001611.5(ACP5):c.853A>G (p.Thr285Ala)	Inborn genetic diseases [RCV005298381]	likely benign	19	11575135	11575135	Human	1	name
13464917	CV468442	single nucleotide variant	NM_001611.5(ACP5):c.661G>A (p.Val221Ile)	Spondyloenchondrodysplasia with immune dysregulation [RCV000544535]\|not provided [RCV001572880]\|not specified [RCV001702504]	benign\|likely benign	19	11576317	11576317	Human	1	name
13499225	CV469746	single nucleotide variant	NM_001611.5(ACP5):c.386G>A (p.Arg129His)	Spondyloenchondrodysplasia with immune dysregulation [RCV000532055]	uncertain significance	19	11576719	11576719	Human	1	name
13530249	CV512379	single nucleotide variant	NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)	Inborn genetic diseases [RCV000622352]\|Spondyloenchondrodysplasia with immune dysregulation [RCV002283498]	pathogenic	19	11576452	11576452	Human	2	name
13609381	CV532691	single nucleotide variant	NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV000640594]\|not provided [RCV001766374]	pathogenic\|likely pathogenic\|uncertain significance	19	11575250	11575250	Human	1	name
13816155	CV572888	single nucleotide variant	NM_001611.5(ACP5):c.469A>G (p.Thr157Ala)	Spondyloenchondrodysplasia with immune dysregulation [RCV000706171]	uncertain significance	19	11576509	11576509	Human	1	name
13820533	CV574862	single nucleotide variant	NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV000694951]\|not provided [RCV002510960]	pathogenic\|likely pathogenic	19	11576335	11576335	Human	1	name
13833602	CV584837	single nucleotide variant	NM_001611.5(ACP5):c.299G>A (p.Arg100His)	ACP5-related disorder [RCV003938100]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000960520]\|not provided [RCV004704200]\|not specified [RCV000728906]	likely benign	19	11576806	11576806	Human	1	name , trait , alternate_id
14720913	CV647638	single nucleotide variant	NM_001611.5(ACP5):c.971G>T (p.Arg324Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV000813227]	uncertain significance	19	11575017	11575017	Human	1	name
14735083	CV647639	single nucleotide variant	NM_001611.5(ACP5):c.971G>A (p.Arg324Lys)	Spondyloenchondrodysplasia with immune dysregulation [RCV000819431]	uncertain significance	19	11575017	11575017	Human	1	name
14736552	CV647640	single nucleotide variant	NM_001611.5(ACP5):c.921C>G (p.Ile307Met)	Inborn genetic diseases [RCV004962816]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000803657]	uncertain significance	19	11575067	11575067	Human	2	name
14720909	CV647641	single nucleotide variant	NM_001611.5(ACP5):c.846C>G (p.His282Gln)	Spondyloenchondrodysplasia with immune dysregulation [RCV000813226]	uncertain significance	19	11575142	11575142	Human	1	name
14708811	CV647642	single nucleotide variant	NM_001611.5(ACP5):c.829G>A (p.Gly277Ser)	Spondyloenchondrodysplasia with immune dysregulation [RCV000792697]\|not provided [RCV004692244]	uncertain significance	19	11575159	11575159	Human	1	name
14707152	CV647643	single nucleotide variant	NM_001611.5(ACP5):c.805C>T (p.Arg269Trp)	Spondyloenchondrodysplasia with immune dysregulation [RCV000792233]\|not provided [RCV002280141]	uncertain significance	19	11575183	11575183	Human	1	name
14718504	CV647644	single nucleotide variant	NM_001611.5(ACP5):c.766G>C (p.Val256Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV000795826]	conflicting interpretations of pathogenicity\|uncertain significance	19	11575222	11575222	Human	1	name
14705367	CV647645	single nucleotide variant	NM_001611.5(ACP5):c.587G>A (p.Arg196Lys)	Spondyloenchondrodysplasia with immune dysregulation [RCV000791659]	uncertain significance	19	11576391	11576391	Human	1	name
14733254	CV647646	single nucleotide variant	NM_001611.5(ACP5):c.398C>G (p.Pro133Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV000802214]	uncertain significance	19	11576580	11576580	Human	1	name
14701844	CV647647	single nucleotide variant	NM_001611.5(ACP5):c.316G>A (p.Val106Met)	Inborn genetic diseases [RCV002534829]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000806559]\|not provided [RCV002290451]	uncertain significance	19	11576789	11576789	Human	2	name
15141572	CV716156	single nucleotide variant	NM_001611.5(ACP5):c.860A>C (p.Asp287Ala)	ACP5-related disorder [RCV003962826]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000966327]	likely benign	19	11575128	11575128	Human	1	name , trait , alternate_id
15098071	CV772381	single nucleotide variant	NM_001611.5(ACP5):c.637G>C (p.Glu213Gln)	Spondyloenchondrodysplasia with immune dysregulation [RCV000936196]	likely benign	19	11576341	11576341	Human	1	name
26907020	CV847225	single nucleotide variant	NM_001611.5(ACP5):c.964C>T (p.Arg322Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV001052020]	conflicting interpretations of pathogenicity\|uncertain significance	19	11575024	11575024	Human	1	name
26913806	CV847226	single nucleotide variant	NM_001611.5(ACP5):c.950C>G (p.Thr317Ser)	Spondyloenchondrodysplasia with immune dysregulation [RCV001054493]	uncertain significance	19	11575038	11575038	Human	1	name
26921553	CV847227	single nucleotide variant	NM_001611.5(ACP5):c.757G>A (p.Val253Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV001061098]	uncertain significance	19	11575231	11575231	Human	1	name
26888592	CV847228	single nucleotide variant	NM_001611.5(ACP5):c.731T>C (p.Leu244Pro)	Spondyloenchondrodysplasia with immune dysregulation [RCV001045331]	uncertain significance	19	11576247	11576247	Human	1	name
26914068	CV847229	single nucleotide variant	NM_001611.5(ACP5):c.715G>A (p.Gly239Ser)	Inborn genetic diseases [RCV002553779]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001054702]	uncertain significance	19	11576263	11576263	Human	2	name
26909087	CV847230	single nucleotide variant	NM_001611.5(ACP5):c.652C>T (p.His218Tyr)	Spondyloenchondrodysplasia with immune dysregulation [RCV001038443]	uncertain significance	19	11576326	11576326	Human	1	name
26891808	CV847231	single nucleotide variant	NM_001611.5(ACP5):c.545G>A (p.Arg182His)	Inborn genetic diseases [RCV004030675]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001068408]	uncertain significance	19	11576433	11576433	Human	2	name
26904022	CV847232	single nucleotide variant	NM_001611.5(ACP5):c.544C>T (p.Arg182Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV001050624]	uncertain significance	19	11576434	11576434	Human	1	name
28885914	CV860502	single nucleotide variant	NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV001862699]\|not provided [RCV001091770]	pathogenic	19	11576736	11576736	Human	1	name
38492409	CV928823	single nucleotide variant	NM_001611.5(ACP5):c.824C>T (p.Pro275Leu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001223563]	uncertain significance	19	11575164	11575164	Human	1	name
38489539	CV928824	single nucleotide variant	NM_001611.5(ACP5):c.694G>A (p.Gly232Arg)	Spondyloenchondrodysplasia with immune dysregulation [RCV001221749]	uncertain significance	19	11576284	11576284	Human	1	name
38492285	CV928825	single nucleotide variant	NM_001611.5(ACP5):c.646C>A (p.Pro216Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV001223472]	uncertain significance	19	11576332	11576332	Human	1	name
38473959	CV928826	single nucleotide variant	NM_001611.5(ACP5):c.632T>C (p.Ile211Thr)	Spondyloenchondrodysplasia with immune dysregulation [RCV001214543]	uncertain significance	19	11576346	11576346	Human	1	name
38461163	CV938562	single nucleotide variant	NM_001611.5(ACP5):c.578C>A (p.Ala193Glu)	Spondyloenchondrodysplasia with immune dysregulation [RCV001211971]	uncertain significance	19	11576400	11576400	Human	1	name
38457529	CV938563	single nucleotide variant	NM_001611.5(ACP5):c.529G>A (p.Asp177Asn)	Spondyloenchondrodysplasia with immune dysregulation [RCV001211158]	uncertain significance	19	11576449	11576449	Human	1	name
38478345	CV950657	single nucleotide variant	NM_001611.5(ACP5):c.838C>T (p.Arg280Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV001233695]	uncertain significance	19	11575150	11575150	Human	1	name
38476483	CV950658	single nucleotide variant	NM_001611.5(ACP5):c.673C>T (p.Arg225Trp)	Inborn genetic diseases [RCV002563788]\|Spondyloenchondrodysplasia with immune dysregulation [RCV001233098]	uncertain significance	19	11576305	11576305	Human	2	name
38495934	CV950660	deletion	NM_001611.5(ACP5):c.44_65del (p.Leu15fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV001226079]	pathogenic	19	11577253	11577274	Human	1	name
38498203	CV958527	single nucleotide variant	NM_001611.5(ACP5):c.815G>A (p.Arg272His)	Spondyloenchondrodysplasia with immune dysregulation [RCV001243646]	uncertain significance	19	11575173	11575173	Human	1	name
38495168	CV958528	single nucleotide variant	NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys)	Spondyloenchondrodysplasia with immune dysregulation [RCV001241772]\|not provided [RCV001751480]	uncertain significance	19	11576568	11576568	Human	1	name
126750696	CV998364	single nucleotide variant	NM_001611.5(ACP5):c.622G>A (p.Val208Met)	Spondyloenchondrodysplasia with immune dysregulation [RCV001297374]	uncertain significance	19	11576356	11576356	Human	1	name
126765199	CV998365	single nucleotide variant	NM_001611.5(ACP5):c.517G>A (p.Glu173Lys)	Spondyloenchondrodysplasia with immune dysregulation [RCV001301396]	uncertain significance	19	11576461	11576461	Human	1	name
151885403	CV1431931	deletion	NM_001611.5(ACP5):c.266_272del (p.Thr89fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV002037747]	pathogenic	19	11576833	11576839	Human	1	name
597926794	CV3854087	deletion	NM_001611.5(ACP5):c.250_251del (p.Lys84fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV005201371]	pathogenic	19	11577067	11577068	Human	1	name
155965920	CV2085637	deletion	NM_001611.5(ACP5):c.654_658del (p.Cys219fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV002881254]	pathogenic	19	11576320	11576324	Human	1	name
11087601	CV227495	deletion	NM_001611.5(ACP5):c.772_790del (p.Ser258fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV000210955]	pathogenic\|likely pathogenic	19	11575198	11575216	Human	1	name
21073100	CV791887	microsatellite	NM_001611.5(ACP5):c.625_626del (p.Trp209fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV000990151]	pathogenic	19	11576352	11576353	Human		name
155957165	CV2066338	inversion	NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)	Spondyloenchondrodysplasia with immune dysregulation [RCV002816579]	uncertain significance	19	11576305	11576306	Human		name
405147117	CV3141847	insertion	NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV003839769]	pathogenic	19	11576732	11576733	Human	1	name
8567957	CV38789	deletion	NM_001611.5(ACP5):c.831_833del (p.Tyr278del)	Inborn genetic diseases [RCV005305945]\|Spondyloenchondrodysplasia with immune dysregulation [RCV000022710]	pathogenic\|uncertain significance	19	11575155	11575157	Human	2	name
151776737	CV1379154	insertion	NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter)	Spondyloenchondrodysplasia with immune dysregulation [RCV001896863]	pathogenic	19	11576729	11576730	Human	1	name
156446382	CV1937850	deletion	NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)	Spondyloenchondrodysplasia with immune dysregulation [RCV003117885]	pathogenic	19	11576260	11576268	Human	1	name
156207784	CV2160258	indel	NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV003042216]	pathogenic	19	11576344	11576350	Human		name
596925140	CV3536933	indel	NM_001611.5(ACP5):c.627_634delinsCCTACC (p.Trp209fs)	Spondyloenchondrodysplasia with immune dysregulation [RCV004785927]	likely pathogenic	19	11576344	11576351	Human		name

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