Agps Variant Search Result - Rat Genome Database

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764 records found for search term Agps

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11585574	CV285907	single nucleotide variant	NM_003659.4(AGPS):c.-14A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000281906]	uncertain significance	2	177392776	177392776	Human	1	name , alternate_id
11650289	CV283033	single nucleotide variant	NM_003659.4(AGPS):c.*165T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000291938]	uncertain significance	2	177538360	177538360	Human	1	name , alternate_id
11592562	CV283035	single nucleotide variant	NM_003659.4(AGPS):c.*206T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000339847]	uncertain significance	2	177538401	177538401	Human	1	name , alternate_id
11597340	CV283044	single nucleotide variant	NM_003659.4(AGPS):c.*377C>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000392850]	benign\|likely benign	2	177538572	177538572	Human	1	name , alternate_id
11659150	CV283045	single nucleotide variant	NM_003659.4(AGPS):c.*513T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000355247]	uncertain significance	2	177538708	177538708	Human	1	name , alternate_id
11596389	CV283046	single nucleotide variant	NM_003659.4(AGPS):c.*921A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000381608]	uncertain significance	2	177539116	177539116	Human	1	name , alternate_id
11582896	CV283850	single nucleotide variant	NM_003659.4(AGPS):c.*552T>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000262800]	benign\|likely benign	2	177538747	177538747	Human	1	name , alternate_id
11591519	CV283852	single nucleotide variant	NM_003659.4(AGPS):c.*560T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000329670]	uncertain significance	2	177538755	177538755	Human	1	name , alternate_id
11660555	CV283854	single nucleotide variant	NM_003659.4(AGPS):c.*641T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000368030]	uncertain significance	2	177538836	177538836	Human	1	name , alternate_id
11597829	CV285528	single nucleotide variant	NM_003659.4(AGPS):c.*118A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000398449]\|not provided [RCV004694504]	uncertain significance	2	177538313	177538313	Human	1	name , alternate_id
11591957	CV285531	single nucleotide variant	NM_003659.4(AGPS):c.*865A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000334045]	benign\|uncertain significance	2	177539060	177539060	Human	1	name , alternate_id
11649898	CV285533	single nucleotide variant	NM_003659.4(AGPS):c.*947T>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000289529]	uncertain significance	2	177539142	177539142	Human	1	name , alternate_id
11652422	CV285930	single nucleotide variant	NM_003659.4(AGPS):c.*378G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000305016]	uncertain significance	2	177538573	177538573	Human	1	name , alternate_id
11594688	CV285931	single nucleotide variant	NM_003659.4(AGPS):c.*428C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000362090]	uncertain significance	2	177538623	177538623	Human	1	name , alternate_id
11587986	CV285936	single nucleotide variant	NM_003659.4(AGPS):c.*469A>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000299151]	uncertain significance	2	177538664	177538664	Human	1	name , alternate_id
11584851	CV285937	single nucleotide variant	NM_003659.4(AGPS):c.*683A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000276706]	uncertain significance	2	177538878	177538878	Human	1	name , alternate_id
14745957	CV658401	single nucleotide variant	NM_003659.3(AGPS):c.-304G>A	not provided [RCV000843929]	benign	2	177392486	177392486	Human		name
14727511	CV658425	single nucleotide variant	NM_003659.3(AGPS):c.-127G>A	not provided [RCV000834353]	benign	2	177392663	177392663	Human		name
28874191	CV881665	single nucleotide variant	NM_003659.4(AGPS):c.*361C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001133257]	uncertain significance	2	177538556	177538556	Human	1	name , alternate_id
28874194	CV881666	single nucleotide variant	NM_003659.4(AGPS):c.*377C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001133258]	benign	2	177538572	177538572	Human	1	name , alternate_id
28874198	CV881667	single nucleotide variant	NM_003659.4(AGPS):c.*385G>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001133259]	likely benign	2	177538580	177538580	Human	1	name , alternate_id
28877244	CV881668	single nucleotide variant	NM_003659.4(AGPS):c.*731A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001134716]	uncertain significance	2	177538926	177538926	Human	1	name , alternate_id
28877250	CV881669	single nucleotide variant	NM_003659.4(AGPS):c.*794C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001134717]	uncertain significance	2	177538989	177538989	Human	1	name , alternate_id
28877256	CV881670	single nucleotide variant	NM_003659.4(AGPS):c.*823T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001134718]	uncertain significance	2	177539018	177539018	Human	1	name , alternate_id
127240855	CV1090095	single nucleotide variant	NM_003659.4(AGPS):c.563-9A>G	not provided [RCV001423439]	likely benign	2	177436971	177436971	Human		name
127253936	CV1090097	single nucleotide variant	NM_003659.4(AGPS):c.790-6C>T	not provided [RCV001437097]	likely benign	2	177445540	177445540	Human		name
127232445	CV1090098	single nucleotide variant	NM_003659.4(AGPS):c.996+7A>G	not provided [RCV001421314]	likely benign	2	177462025	177462025	Human		name
127293952	CV1111588	single nucleotide variant	NM_003659.4(AGPS):c.350+7C>G	not provided [RCV001476694]	likely benign	2	177420365	177420365	Human		name
127291334	CV1111592	single nucleotide variant	NM_003659.4(AGPS):c.638-5A>C	not provided [RCV001451467]	likely benign	2	177440960	177440960	Human		name
127302640	CV1132490	single nucleotide variant	NM_003659.4(AGPS):c.260+9C>T	not provided [RCV001478988]	likely benign	2	177393058	177393058	Human		name
127315265	CV1132494	single nucleotide variant	NM_003659.4(AGPS):c.563-8C>A	not provided [RCV001502666]	likely benign	2	177436972	177436972	Human		name
152171253	CV1552669	single nucleotide variant	NM_003659.4(AGPS):c.790-7G>T	not provided [RCV002143387]	likely benign	2	177445539	177445539	Human		name
152150657	CV1559519	single nucleotide variant	NM_003659.4(AGPS):c.790-8T>C	not provided [RCV002220761]	likely benign	2	177445538	177445538	Human		name
152086842	CV1578211	single nucleotide variant	NM_003659.4(AGPS):c.563-9A>T	not provided [RCV002171282]	likely benign	2	177436971	177436971	Human		name
152078888	CV1632247	single nucleotide variant	NM_003659.4(AGPS):c.871-9G>A	not provided [RCV002130585]	likely benign	2	177461884	177461884	Human		name
9684276	CV167561	single nucleotide variant	NM_003659.4(AGPS):c.261-5A>C	Rhizomelic chondrodysplasia punctata [RCV001277026]\|Rhizomelic chondrodysplasia punctata type 3 [RCV001001493]\|not provided [RCV000836146]\|not specified [RCV000145011]	benign\|likely benign	2	177420264	177420264	Human	2	name , alternate_id
156413193	CV1904771	single nucleotide variant	NM_003659.4(AGPS):c.638-9T>C	not provided [RCV002588083]	likely benign	2	177440956	177440956	Human		name
155911351	CV2024970	single nucleotide variant	NM_003659.4(AGPS):c.562+8A>T	not provided [RCV002726828]	likely benign	2	177436892	177436892	Human		name
156125421	CV2031112	single nucleotide variant	NM_003659.4(AGPS):c.870+7T>C	not provided [RCV002740363]	likely benign	2	177445633	177445633	Human		name
156237670	CV2047054	single nucleotide variant	NM_003659.4(AGPS):c.261-6C>T	not provided [RCV002805557]	likely benign	2	177420263	177420263	Human		name
156115310	CV2093145	single nucleotide variant	NM_003659.4(AGPS):c.638-6C>T	not provided [RCV002913942]	likely benign	2	177440959	177440959	Human		name
155954080	CV2143827	single nucleotide variant	NM_003659.4(AGPS):c.261-4C>T	not provided [RCV002994795]	likely benign	2	177420265	177420265	Human		name
243056571	CV2418750	single nucleotide variant	NM_003659.4(AGPS):c.709+4G>C	not specified [RCV003155717]	uncertain significance	2	177441040	177441040	Human		name
11637875	CV275008	single nucleotide variant	NM_003659.4(AGPS):c.638-7T>C	not provided [RCV000292358]	conflicting interpretations of pathogenicity\|uncertain significance	2	177440958	177440958	Human		name
11660924	CV283028	single nucleotide variant	NM_003659.4(AGPS):c.870+4T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000371704]	uncertain significance	2	177445630	177445630	Human	1	name , alternate_id
11592665	CV283047	single nucleotide variant	NM_003659.4(AGPS):c.*1364A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000340877]	benign\|uncertain significance	2	177539559	177539559	Human	1	name , alternate_id
11586306	CV283052	single nucleotide variant	NM_003659.4(AGPS):c.*1701T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000286915]	likely benign\|uncertain significance	2	177539896	177539896	Human	1	name , alternate_id
11596011	CV283065	single nucleotide variant	NM_003659.4(AGPS):c.*1866A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000377269]\|not provided [RCV004708434]	benign	2	177540061	177540061	Human	1	name , alternate_id
11658578	CV283070	single nucleotide variant	NM_003659.4(AGPS):c.*1884A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000350283]	uncertain significance	2	177540079	177540079	Human	1	name , alternate_id
11598070	CV283080	single nucleotide variant	NM_003659.4(AGPS):c.*2088T>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000401255]	uncertain significance	2	177540283	177540283	Human	1	name , alternate_id
11589235	CV283081	single nucleotide variant	NM_003659.4(AGPS):c.*2487C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000309295]	uncertain significance	2	177540682	177540682	Human	1	name , alternate_id
11595094	CV283102	single nucleotide variant	NM_003659.4(AGPS):c.*2548A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000366582]\|not provided [RCV004708435]	benign\|likely benign	2	177540743	177540743	Human	1	name , alternate_id
11645354	CV283109	single nucleotide variant	NM_003659.4(AGPS):c.*2582C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000264947]	uncertain significance	2	177540777	177540777	Human	1	name , alternate_id
11594587	CV283110	single nucleotide variant	NM_003659.4(AGPS):c.*2636G>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000360712]	benign\|likely benign	2	177540831	177540831	Human	1	name , alternate_id
11583704	CV283118	single nucleotide variant	NM_003659.4(AGPS):c.*2667G>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000268545]	uncertain significance	2	177540862	177540862	Human	1	name , alternate_id
11595719	CV283119	single nucleotide variant	NM_003659.4(AGPS):c.*3045C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000373700]	benign\|uncertain significance	2	177541240	177541240	Human	1	name , alternate_id
11594641	CV283120	single nucleotide variant	NM_003659.4(AGPS):c.*4253C>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000361548]\|not provided [RCV004709877]	benign	2	177542448	177542448	Human	1	name , alternate_id
11584282	CV283129	single nucleotide variant	NM_003659.4(AGPS):c.*4821C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000272565]	benign\|likely benign	2	177543016	177543016	Human	1	name , alternate_id
11596960	CV283130	single nucleotide variant	NM_003659.4(AGPS):c.*5023C>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000388067]\|not provided [RCV002510871]	benign\|likely benign\|uncertain significance	2	177543218	177543218	Human	1	name , alternate_id
11587256	CV283137	single nucleotide variant	NM_003659.4(AGPS):c.*5026C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000293859]	uncertain significance	2	177543221	177543221	Human	1	name , alternate_id
11595824	CV283138	single nucleotide variant	NM_003659.4(AGPS):c.*5124C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000374893]	likely benign\|uncertain significance	2	177543319	177543319	Human	1	name , alternate_id
11649396	CV283140	single nucleotide variant	NM_003659.4(AGPS):c.*5465C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000286640]	uncertain significance	2	177543660	177543660	Human	1	name , alternate_id
11597850	CV283142	single nucleotide variant	NM_003659.4(AGPS):c.*5609G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000398638]	uncertain significance	2	177543804	177543804	Human	1	name , alternate_id
401947397	CV2834192	single nucleotide variant	NM_003659.4(AGPS):c.637+2T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV003466240]	likely pathogenic	2	177437056	177437056	Human	1	name , alternate_id
401940732	CV2834216	single nucleotide variant	NM_003659.4(AGPS):c.562+1G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV003459996]	likely pathogenic	2	177436885	177436885	Human	1	name , alternate_id
401940738	CV2834235	single nucleotide variant	NM_003659.4(AGPS):c.710-2A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV003460002]	likely pathogenic	2	177442405	177442405	Human	1	name , alternate_id
11590018	CV283865	single nucleotide variant	NM_003659.4(AGPS):c.*2091T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000315041]	benign\|likely benign	2	177540286	177540286	Human	1	name , alternate_id
11598633	CV283869	single nucleotide variant	NM_003659.4(AGPS):c.*2455C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000408085]	uncertain significance	2	177540650	177540650	Human	1	name , alternate_id
11596791	CV283870	single nucleotide variant	NM_003659.4(AGPS):c.*3262C>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000386504]	uncertain significance	2	177541457	177541457	Human	1	name , alternate_id
11598164	CV283876	single nucleotide variant	NM_003659.4(AGPS):c.*4132A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000402211]	uncertain significance	2	177542327	177542327	Human	1	name , alternate_id
11659484	CV283877	deletion	NM_003659.4(AGPS):c.*4660del	Rhizomelic chondrodysplasia punctata [RCV000358258]	likely benign	2	177542846	177542846	Human	1	name
11583752	CV283878	single nucleotide variant	NM_003659.4(AGPS):c.*4974T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000269027]\|not provided [RCV004709878]	benign	2	177543169	177543169	Human	1	name , alternate_id
11592136	CV283879	single nucleotide variant	NM_003659.4(AGPS):c.*5159T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000335930]	uncertain significance	2	177543354	177543354	Human	1	name , alternate_id
11655766	CV285536	duplication	NM_003659.4(AGPS):c.*1105dup	Rhizomelic chondrodysplasia punctata [RCV000328086]	uncertain significance	2	177539292	177539293	Human	1	name
11585800	CV285552	single nucleotide variant	NM_003659.4(AGPS):c.*1106A>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000283586]	benign\|likely benign	2	177539301	177539301	Human	1	name , alternate_id
11592964	CV285559	single nucleotide variant	NM_003659.4(AGPS):c.*2437A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000344219]	uncertain significance	2	177540632	177540632	Human	1	name , alternate_id
11588524	CV285561	single nucleotide variant	NM_003659.4(AGPS):c.*2621C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000303592]	uncertain significance	2	177540816	177540816	Human	1	name , alternate_id
11586668	CV285563	single nucleotide variant	NM_003659.4(AGPS):c.*3381G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000289682]	uncertain significance	2	177541576	177541576	Human	1	name , alternate_id
11593031	CV285569	single nucleotide variant	NM_003659.4(AGPS):c.*3558C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000344624]\|not provided [RCV004709876]	benign	2	177541753	177541753	Human	1	name , alternate_id
11587504	CV285580	duplication	NM_003659.4(AGPS):c.*3854dup	Rhizomelic chondrodysplasia punctata [RCV000295522]	benign	2	177542041	177542042	Human	1	name
11663671	CV285581	single nucleotide variant	NM_003659.4(AGPS):c.*3953A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000398358]	uncertain significance	2	177542148	177542148	Human	1	name , alternate_id
11592296	CV285584	single nucleotide variant	NM_003659.4(AGPS):c.*4098C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000337343]	benign\|uncertain significance	2	177542293	177542293	Human	1	name , alternate_id
11587793	CV285587	single nucleotide variant	NM_003659.4(AGPS):c.*4232A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000297706]	uncertain significance	2	177542427	177542427	Human	1	name , alternate_id
11662030	CV285588	single nucleotide variant	NM_003659.4(AGPS):c.*4910C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000382158]	uncertain significance	2	177543105	177543105	Human	1	name , alternate_id
11591569	CV285589	single nucleotide variant	NM_003659.4(AGPS):c.*5072T>G	Rhizomelic chondrodysplasia punctata [RCV000330160]	uncertain significance	2	177543267	177543267	Human	1	name
11597927	CV285606	single nucleotide variant	NM_003659.4(AGPS):c.*5453C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000399413]	uncertain significance	2	177543648	177543648	Human	1	name , alternate_id
11657466	CV285617	single nucleotide variant	NM_003659.4(AGPS):c.*5506T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000341672]	uncertain significance	2	177543701	177543701	Human	1	name , alternate_id
11596662	CV285939	single nucleotide variant	NM_003659.4(AGPS):c.*1105T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000384988]	uncertain significance	2	177539300	177539300	Human	1	name , alternate_id
11598051	CV285942	single nucleotide variant	NM_003659.4(AGPS):c.*1628C>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000400801]	uncertain significance	2	177539823	177539823	Human	1	name , alternate_id
11590181	CV285965	single nucleotide variant	NM_003659.4(AGPS):c.*2730G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000316634]	uncertain significance	2	177540925	177540925	Human	1	name , alternate_id
11644983	CV285979	single nucleotide variant	NM_003659.4(AGPS):c.*3060A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000262737]	uncertain significance	2	177541255	177541255	Human	1	name , alternate_id
11591512	CV285980	single nucleotide variant	NM_003659.4(AGPS):c.*3073A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000329606]	likely benign\|uncertain significance	2	177541268	177541268	Human	1	name , alternate_id
11597103	CV285983	single nucleotide variant	NM_003659.4(AGPS):c.*3606A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000389813]	uncertain significance	2	177541801	177541801	Human	1	name , alternate_id
11651849	CV285984	single nucleotide variant	NM_003659.4(AGPS):c.*3977T>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000301134]	uncertain significance	2	177542172	177542172	Human	1	name , alternate_id
11588488	CV286012	single nucleotide variant	NM_003659.4(AGPS):c.*4618A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000303493]	benign\|likely benign	2	177542813	177542813	Human	1	name , alternate_id
11655722	CV286013	single nucleotide variant	NM_003659.4(AGPS):c.*4885A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000327664]	uncertain significance	2	177543080	177543080	Human	1	name , alternate_id
11591928	CV286028	single nucleotide variant	NM_003659.4(AGPS):c.*4996C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000333577]	uncertain significance	2	177543191	177543191	Human	1	name , alternate_id
11648268	CV286046	single nucleotide variant	NM_003659.4(AGPS):c.*5155C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000280922]	uncertain significance	2	177543350	177543350	Human	1	name , alternate_id
405186279	CV2921251	single nucleotide variant	NM_003659.4(AGPS):c.637+9T>C	not provided [RCV003564406]	likely benign	2	177437063	177437063	Human		name
405014094	CV2930195	deletion	NM_003659.4(AGPS):c.638-7del	not provided [RCV003576918]	benign	2	177440953	177440953	Human		name
405212596	CV2974405	single nucleotide variant	NM_003659.4(AGPS):c.261-8C>T	not provided [RCV003679525]	likely benign	2	177420261	177420261	Human		name
405216364	CV2975316	single nucleotide variant	NM_003659.4(AGPS):c.996+8T>A	not provided [RCV003679981]	likely benign	2	177462026	177462026	Human		name
402494313	CV3008595	deletion	NM_003659.4(AGPS):c.350+7del	not provided [RCV003687780]	likely benign	2	177420363	177420363	Human		name
405095175	CV3022864	single nucleotide variant	NM_003659.4(AGPS):c.351-9G>T	not provided [RCV003700012]	likely benign	2	177434318	177434318	Human		name
405245785	CV3078785	single nucleotide variant	NM_003659.4(AGPS):c.996+8T>C	not provided [RCV003738536]	likely benign	2	177462026	177462026	Human		name
405113439	CV3133633	single nucleotide variant	NM_003659.4(AGPS):c.260+7A>G	not provided [RCV003836426]	likely benign	2	177393056	177393056	Human		name
405064157	CV3148426	single nucleotide variant	NM_003659.4(AGPS):c.260+8G>T	not provided [RCV003850382]	likely benign	2	177393057	177393057	Human		name
405237913	CV3165309	single nucleotide variant	NM_003659.4(AGPS):c.350+8T>A	not provided [RCV003866511]	likely benign	2	177420366	177420366	Human		name
402470575	CV3171116	single nucleotide variant	NM_003659.4(AGPS):c.350+9G>A	not provided [RCV003874079]	likely benign	2	177420367	177420367	Human		name
597961500	CV3812164	single nucleotide variant	NM_003659.4(AGPS):c.997-6A>G	not provided [RCV005163817]	likely benign	2	177468410	177468410	Human		name
13516804	CV489144	deletion	NM_003659.4(AGPS):c.-5_-3del	not provided [RCV000595983]	uncertain significance	2	177392784	177392786	Human		name
15104423	CV787076	single nucleotide variant	NM_003659.4(AGPS):c.997-9A>G	not provided [RCV000976218]	likely benign	2	177468407	177468407	Human		name
15108264	CV787118	single nucleotide variant	NM_003659.4(AGPS):c.790-9T>C	not provided [RCV000976999]	likely benign	2	177445537	177445537	Human		name
28868120	CV881671	single nucleotide variant	NM_003659.4(AGPS):c.*1073T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001129719]	uncertain significance	2	177539268	177539268	Human	1	name , alternate_id
28868123	CV881672	single nucleotide variant	NM_003659.4(AGPS):c.*1238T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001129720]	uncertain significance	2	177539433	177539433	Human	1	name , alternate_id
28868125	CV881673	single nucleotide variant	NM_003659.4(AGPS):c.*1312T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001129721]	uncertain significance	2	177539507	177539507	Human	1	name , alternate_id
28872694	CV881674	single nucleotide variant	NM_003659.4(AGPS):c.*1424G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001132425]	uncertain significance	2	177539619	177539619	Human	1	name , alternate_id
28872698	CV881675	single nucleotide variant	NM_003659.4(AGPS):c.*1469T>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001132426]	uncertain significance	2	177539664	177539664	Human	1	name , alternate_id
28872701	CV881676	single nucleotide variant	NM_003659.4(AGPS):c.*1719G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001132427]	benign	2	177539914	177539914	Human	1	name , alternate_id
28872703	CV881677	single nucleotide variant	NM_003659.4(AGPS):c.*1744A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001132428]	uncertain significance	2	177539939	177539939	Human	1	name , alternate_id
28872706	CV881678	single nucleotide variant	NM_003659.4(AGPS):c.*1858A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001132429]	uncertain significance	2	177540053	177540053	Human	1	name , alternate_id
28872707	CV881679	single nucleotide variant	NM_003659.4(AGPS):c.*1860G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001132430]	uncertain significance	2	177540055	177540055	Human	1	name , alternate_id
28874354	CV881680	single nucleotide variant	NM_003659.4(AGPS):c.*1865C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001133343]	uncertain significance	2	177540060	177540060	Human	1	name , alternate_id
28874357	CV881681	single nucleotide variant	NM_003659.4(AGPS):c.*1869T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001133344]	uncertain significance	2	177540064	177540064	Human	1	name , alternate_id
28874359	CV881682	single nucleotide variant	NM_003659.4(AGPS):c.*1880A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001133345]	uncertain significance	2	177540075	177540075	Human	1	name , alternate_id
28874362	CV881683	single nucleotide variant	NM_003659.4(AGPS):c.*1882A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001133346]	uncertain significance	2	177540077	177540077	Human	1	name , alternate_id
28877532	CV881684	single nucleotide variant	NM_003659.4(AGPS):c.*2311G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001134815]	uncertain significance	2	177540506	177540506	Human	1	name , alternate_id
28877537	CV881685	single nucleotide variant	NM_003659.4(AGPS):c.*2318A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001134816]	uncertain significance	2	177540513	177540513	Human	1	name , alternate_id
28868290	CV881686	single nucleotide variant	NM_003659.4(AGPS):c.*2833G>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001129834]	uncertain significance	2	177541028	177541028	Human	1	name , alternate_id
28872879	CV881687	single nucleotide variant	NM_003659.4(AGPS):c.*3524T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001132522]	uncertain significance	2	177541719	177541719	Human	1	name , alternate_id
28872883	CV881688	single nucleotide variant	NM_003659.4(AGPS):c.*3894A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001132523]	benign	2	177542089	177542089	Human	1	name , alternate_id
28874551	CV881689	single nucleotide variant	NM_003659.4(AGPS):c.*3931A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001133446]	uncertain significance	2	177542126	177542126	Human	1	name , alternate_id
28874555	CV881690	single nucleotide variant	NM_003659.4(AGPS):c.*3971A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001133447]	uncertain significance	2	177542166	177542166	Human	1	name , alternate_id
28874559	CV881691	single nucleotide variant	NM_003659.4(AGPS):c.*4056T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001133448]	uncertain significance	2	177542251	177542251	Human	1	name , alternate_id
28874563	CV881692	single nucleotide variant	NM_003659.4(AGPS):c.*4100A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001133449]	uncertain significance	2	177542295	177542295	Human	1	name , alternate_id
28877859	CV881693	single nucleotide variant	NM_003659.4(AGPS):c.*4228A>C	Rhizomelic chondrodysplasia punctata type 3 [RCV001134940]	uncertain significance	2	177542423	177542423	Human	1	name , alternate_id
28877863	CV881694	single nucleotide variant	NM_003659.4(AGPS):c.*4255T>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001134941]	likely benign	2	177542450	177542450	Human	1	name , alternate_id
28877865	CV881695	single nucleotide variant	NM_003659.4(AGPS):c.*4625C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001134942]	uncertain significance	2	177542820	177542820	Human	1	name , alternate_id
28877870	CV881696	single nucleotide variant	NM_003659.4(AGPS):c.*4674A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001134943]	uncertain significance	2	177542869	177542869	Human	1	name , alternate_id
28868413	CV881697	single nucleotide variant	NM_003659.4(AGPS):c.*4780G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001129915]	uncertain significance	2	177542975	177542975	Human	1	name , alternate_id
28868414	CV881698	single nucleotide variant	NM_003659.4(AGPS):c.*4788G>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001129916]	uncertain significance	2	177542983	177542983	Human	1	name , alternate_id
127278135	CV1068370	single nucleotide variant	NM_003659.4(AGPS):c.261-10T>A	not provided [RCV001408302]	likely benign	2	177420259	177420259	Human		name
127250360	CV1068373	single nucleotide variant	NM_003659.4(AGPS):c.1106-4T>A	not provided [RCV001399860]	likely benign	2	177482055	177482055	Human		name
127327687	CV1132505	single nucleotide variant	NM_003659.4(AGPS):c.1545+9T>A	not provided [RCV001506765]	likely benign	2	177505584	177505584	Human		name
127308862	CV1153889	duplication	NM_003659.4(AGPS):c.1608-3dup	not provided [RCV001517655]	benign	2	177513809	177513810	Human		name
150339143	CV1174650	single nucleotide variant	NM_003659.4(AGPS):c.442-64C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001543208]\|not provided [RCV001707899]	benign	2	177436700	177436700	Human	1	name , alternate_id
150413672	CV1196743	single nucleotide variant	NM_003659.4(AGPS):c.441+77T>G	not provided [RCV001574693]	likely benign	2	177434494	177434494	Human		name
150420132	CV1196744	single nucleotide variant	NM_003659.4(AGPS):c.442-88G>A	not provided [RCV001577478]	likely benign	2	177436676	177436676	Human		name
150475924	CV1251786	single nucleotide variant	NM_003659.4(AGPS):c.260+62A>C	not provided [RCV001671984]	benign	2	177393111	177393111	Human		name
150482208	CV1261583	single nucleotide variant	NM_003659.4(AGPS):c.996+92C>G	not provided [RCV001686186]	benign	2	177462110	177462110	Human		name
150467192	CV1277529	single nucleotide variant	NM_003659.4(AGPS):c.350+95G>A	not provided [RCV001710824]	benign	2	177420453	177420453	Human		name
151350331	CV1324675	single nucleotide variant	NM_003659.4(AGPS):c.1363-2A>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001809120]	uncertain significance	2	177499616	177499616	Human	1	name , alternate_id
151753402	CV1407278	single nucleotide variant	NM_003659.4(AGPS):c.871-16A>G	not provided [RCV002023621]	uncertain significance	2	177461877	177461877	Human		name
151786956	CV1490289	single nucleotide variant	NM_003659.4(AGPS):c.1233+1G>A	not provided [RCV001931010]	uncertain significance	2	177482187	177482187	Human		name
152159579	CV1522671	single nucleotide variant	NM_003659.4(AGPS):c.441+18A>G	not provided [RCV002140685]	likely benign	2	177434435	177434435	Human		name
152038446	CV1524172	single nucleotide variant	NM_003659.4(AGPS):c.1363-4G>T	not provided [RCV002125721]	likely benign	2	177499614	177499614	Human		name
152166322	CV1524329	single nucleotide variant	NM_003659.4(AGPS):c.1545+8A>G	not provided [RCV002141902]	likely benign	2	177505583	177505583	Human		name
152143738	CV1543027	single nucleotide variant	NM_003659.4(AGPS):c.637+19G>A	not provided [RCV002178401]	likely benign	2	177437073	177437073	Human		name
152164689	CV1543572	duplication	NM_003659.4(AGPS):c.1363-5dup	not provided [RCV002123853]	benign	2	177499600	177499601	Human		name
152159796	CV1544473	deletion	NM_003659.4(AGPS):c.871-15del	not provided [RCV002122983]	benign	2	177461876	177461876	Human		name
152065925	CV1556864	single nucleotide variant	NM_003659.4(AGPS):c.1362+7A>T	not provided [RCV002191168]	likely benign	2	177497772	177497772	Human		name
152139175	CV1562775	single nucleotide variant	NM_003659.4(AGPS):c.260+10G>A	not provided [RCV002100531]	likely benign	2	177393059	177393059	Human		name
152068462	CV1571196	single nucleotide variant	NM_003659.4(AGPS):c.1286-4T>C	not provided [RCV002129286]	likely benign	2	177497685	177497685	Human		name
152175872	CV1580124	duplication	NM_003659.4(AGPS):c.563-12dup	not provided [RCV002164009]	likely benign	2	177436966	177436967	Human		name
152070585	CV1581249	single nucleotide variant	NM_003659.4(AGPS):c.1698-8T>C	not provided [RCV002091531]	likely benign	2	177521261	177521261	Human		name
152142131	CV1586488	single nucleotide variant	NM_003659.4(AGPS):c.1545+9T>C	not provided [RCV002178195]	likely benign	2	177505584	177505584	Human		name
152100410	CV1606716	single nucleotide variant	NM_003659.4(AGPS):c.710-10A>C	not provided [RCV002195474]	likely benign	2	177442397	177442397	Human		name
152097801	CV1611599	single nucleotide variant	NM_003659.4(AGPS):c.1286-8C>A	not provided [RCV002172701]	likely benign	2	177497681	177497681	Human		name
152091951	CV1616498	single nucleotide variant	NM_003659.4(AGPS):c.1105+9A>G	not provided [RCV002114194]	likely benign	2	177468533	177468533	Human		name
152131996	CV1631213	single nucleotide variant	NM_003659.4(AGPS):c.1285+7A>G	not provided [RCV002119207]	likely benign	2	177493206	177493206	Human		name
152085908	CV1633617	single nucleotide variant	NM_003659.4(AGPS):c.637+18C>T	not provided [RCV002113384]	likely benign	2	177437072	177437072	Human		name
152110618	CV1638306	deletion	NM_003659.4(AGPS):c.1363-5del	not provided [RCV002196721]	benign	2	177499601	177499601	Human		name
153305571	CV1688638	single nucleotide variant	NM_003659.4(AGPS):c.1697+2T>C	not specified [RCV002266374]	uncertain significance	2	177513910	177513910	Human		name
156405104	CV1883710	single nucleotide variant	NM_003659.4(AGPS):c.1608-5T>C	not provided [RCV003069916]	likely benign	2	177513814	177513814	Human		name
156388319	CV1888299	single nucleotide variant	NM_003659.4(AGPS):c.637+15C>T	not provided [RCV003067753]	likely benign	2	177437069	177437069	Human		name
156402419	CV1889343	single nucleotide variant	NM_003659.4(AGPS):c.1363-7T>G	not provided [RCV003069291]	likely benign	2	177499611	177499611	Human		name
156147783	CV1895243	single nucleotide variant	NM_003659.4(AGPS):c.870+19T>A	not provided [RCV003082443]	likely benign	2	177445645	177445645	Human		name
156311253	CV1928459	single nucleotide variant	NM_003659.4(AGPS):c.441+20T>C	not provided [RCV002648180]	likely benign	2	177434437	177434437	Human		name
156093273	CV1960076	single nucleotide variant	NM_003659.4(AGPS):c.350+10G>T	not provided [RCV002570301]	likely benign	2	177420368	177420368	Human		name
156335808	CV1988276	single nucleotide variant	NM_003659.4(AGPS):c.709+10G>A	not provided [RCV002631179]	likely benign	2	177441046	177441046	Human		name
156106338	CV2038525	single nucleotide variant	NM_003659.4(AGPS):c.997-18G>A	not provided [RCV002761507]	likely benign	2	177468398	177468398	Human		name
156277459	CV2053666	single nucleotide variant	NM_003659.4(AGPS):c.1362+3A>G	not provided [RCV002806875]	uncertain significance	2	177497768	177497768	Human		name
156332329	CV2061438	single nucleotide variant	NM_003659.4(AGPS):c.562+10T>A	not provided [RCV002810752]	likely benign	2	177436894	177436894	Human		name
156052646	CV2064636	single nucleotide variant	NM_003659.4(AGPS):c.1798-8A>C	not provided [RCV002846490]	likely benign	2	177523740	177523740	Human		name
156075449	CV2083445	single nucleotide variant	NM_003659.4(AGPS):c.1286-9T>C	not provided [RCV002847208]	likely benign	2	177497680	177497680	Human		name
155964140	CV2142425	single nucleotide variant	NM_003659.4(AGPS):c.1475+7C>A	not provided [RCV002995298]	likely benign	2	177499737	177499737	Human		name
156158239	CV2147177	deletion	NM_003659.4(AGPS):c.1798-6del	not provided [RCV003023094]	likely benign	2	177523740	177523740	Human		name
156363636	CV2170721	single nucleotide variant	NM_003659.4(AGPS):c.637+10C>T	not provided [RCV003031737]	likely benign	2	177437064	177437064	Human		name
401940721	CV2834160	single nucleotide variant	NM_003659.4(AGPS):c.1608-1G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV003459985]	likely pathogenic	2	177513818	177513818	Human	1	name , alternate_id
11581828	CV283848	single nucleotide variant	NM_003659.4(AGPS):c.1233+5A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV000386029]\|not provided [RCV000972535]\|not specified [RCV000596919]	likely benign\|uncertain significance	2	177482191	177482191	Human	1	name , alternate_id
11593084	CV285527	single nucleotide variant	NM_003659.4(AGPS):c.1855+6C>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000345446]\|not provided [RCV002521341]\|not specified [RCV003155164]	uncertain significance	2	177523811	177523811	Human	1	name , alternate_id
11583459	CV285914	single nucleotide variant	NM_003659.4(AGPS):c.637+13C>T	Rhizomelic chondrodysplasia punctata type 3 [RCV000266679]\|not provided [RCV002057609]\|not specified [RCV000439188]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	177437067	177437067	Human	1	name , alternate_id
402491798	CV2867210	single nucleotide variant	NM_003659.4(AGPS):c.637+11C>T	not provided [RCV003544916]	likely benign	2	177437065	177437065	Human		name
405212808	CV2878743	single nucleotide variant	NM_003659.4(AGPS):c.441+19T>A	not provided [RCV003552813]	likely benign	2	177434436	177434436	Human		name
405237484	CV2884896	single nucleotide variant	NM_003659.4(AGPS):c.563-14T>C	not provided [RCV003556610]	likely benign	2	177436966	177436966	Human		name
405239576	CV2886187	single nucleotide variant	NM_003659.4(AGPS):c.351-10T>G	not provided [RCV003557053]	likely benign	2	177434317	177434317	Human		name
405065521	CV2939928	single nucleotide variant	NM_003659.4(AGPS):c.709+19G>T	not provided [RCV003659036]	likely benign	2	177441055	177441055	Human		name
405177701	CV2952014	single nucleotide variant	NM_003659.4(AGPS):c.1546-4A>T	not provided [RCV003675906]	likely benign	2	177507966	177507966	Human		name
405159768	CV2961121	single nucleotide variant	NM_003659.4(AGPS):c.562+19G>A	not provided [RCV003670557]	likely benign	2	177436903	177436903	Human		name
405243568	CV2971555	single nucleotide variant	NM_003659.4(AGPS):c.709+10G>T	not provided [RCV003684575]	likely benign	2	177441046	177441046	Human		name
405234504	CV2975501	single nucleotide variant	NM_003659.4(AGPS):c.1476-5T>C	not provided [RCV003682683]	likely benign	2	177505501	177505501	Human		name
402496269	CV2978737	single nucleotide variant	NM_003659.4(AGPS):c.870+13T>C	not provided [RCV003714241]	likely benign	2	177445639	177445639	Human		name
404984150	CV2989514	single nucleotide variant	NM_003659.4(AGPS):c.562+13A>G	not provided [RCV003691507]	likely benign	2	177436897	177436897	Human		name
404987530	CV3001576	deletion	NM_003659.4(AGPS):c.1608-3del	not provided [RCV003691888]	benign	2	177513810	177513810	Human		name
405025802	CV3003032	single nucleotide variant	NM_003659.4(AGPS):c.562+12T>A	not provided [RCV003695109]	likely benign	2	177436896	177436896	Human		name
402504149	CV3007088	single nucleotide variant	NM_003659.4(AGPS):c.996+14T>C	not provided [RCV003688709]	likely benign	2	177462032	177462032	Human		name
404978166	CV3012171	deletion	NM_003659.4(AGPS):c.1546-6del	not provided [RCV003690702]	likely benign	2	177507963	177507963	Human		name
405031771	CV3012640	single nucleotide variant	NM_003659.4(AGPS):c.1476-9T>C	not provided [RCV003695517]	likely benign	2	177505497	177505497	Human		name
405125235	CV3021181	single nucleotide variant	NM_003659.4(AGPS):c.870+12A>G	not provided [RCV003701114]	likely benign	2	177445638	177445638	Human		name
405198422	CV3032668	single nucleotide variant	NM_003659.4(AGPS):c.1363-5T>G	not provided [RCV003707116]	likely benign	2	177499613	177499613	Human		name
402479466	CV3033049	single nucleotide variant	NM_003659.4(AGPS):c.563-14T>A	not provided [RCV003712603]	likely benign	2	177436966	177436966	Human		name
405253976	CV3044979	single nucleotide variant	NM_003659.4(AGPS):c.563-15T>G	not provided [RCV003722686]	likely benign	2	177436965	177436965	Human		name
405250858	CV3052971	single nucleotide variant	NM_003659.4(AGPS):c.997-15T>C	not provided [RCV003721661]	likely benign	2	177468401	177468401	Human		name
405126896	CV3053403	single nucleotide variant	NM_003659.4(AGPS):c.710-10A>G	not provided [RCV003724366]	likely benign	2	177442397	177442397	Human		name
405200428	CV3056690	single nucleotide variant	NM_003659.4(AGPS):c.997-19C>T	not provided [RCV003730644]	likely benign	2	177468397	177468397	Human		name
405215638	CV3066617	single nucleotide variant	NM_003659.4(AGPS):c.871-16A>T	not provided [RCV003732523]	likely benign	2	177461877	177461877	Human		name
405026264	CV3073264	single nucleotide variant	NM_003659.4(AGPS):c.709+14C>T	not provided [RCV003738732]	likely benign	2	177441050	177441050	Human		name
405033684	CV3075022	single nucleotide variant	NM_003659.4(AGPS):c.261-18A>G	not provided [RCV003739261]	likely benign	2	177420251	177420251	Human		name
405237659	CV3077713	single nucleotide variant	NM_003659.4(AGPS):c.442-16C>G	not provided [RCV003736206]	likely benign	2	177436748	177436748	Human		name
405246107	CV3078900	single nucleotide variant	NM_003659.4(AGPS):c.709+13C>G	not provided [RCV003738555]	likely benign	2	177441049	177441049	Human		name
405025734	CV3079143	duplication	NM_003659.4(AGPS):c.1106-4dup	not provided [RCV003738771]	benign	2	177482048	177482049	Human		name
405212215	CV3117839	single nucleotide variant	NM_003659.4(AGPS):c.563-13A>G	not provided [RCV003823438]	likely benign	2	177436967	177436967	Human		name
405000513	CV3120255	single nucleotide variant	NM_003659.4(AGPS):c.871-20G>A	not provided [RCV003828045]	likely benign	2	177461873	177461873	Human		name
405088217	CV3122171	single nucleotide variant	NM_003659.4(AGPS):c.351-15T>G	not provided [RCV003810926]	likely benign	2	177434312	177434312	Human		name
405096422	CV3148023	single nucleotide variant	NM_003659.4(AGPS):c.1607+9T>C	not provided [RCV003852653]	likely benign	2	177508040	177508040	Human		name
405142458	CV3155355	single nucleotide variant	NM_003659.4(AGPS):c.260+15G>A	not provided [RCV003855593]	likely benign	2	177393064	177393064	Human		name
405231228	CV3157278	single nucleotide variant	NM_003659.4(AGPS):c.441+12A>G	not provided [RCV003865228]	likely benign	2	177434429	177434429	Human		name
405154209	CV3163108	single nucleotide variant	NM_003659.4(AGPS):c.637+20T>C	not provided [RCV003856551]	likely benign	2	177437074	177437074	Human		name
405239056	CV3165743	single nucleotide variant	NM_003659.4(AGPS):c.1697+8T>G	not provided [RCV003866755]	likely benign	2	177513916	177513916	Human		name
405255079	CV3175572	single nucleotide variant	NM_003659.4(AGPS):c.997-11G>T	not provided [RCV003871839]	likely benign	2	177468405	177468405	Human		name
405253268	CV3178185	single nucleotide variant	NM_003659.4(AGPS):c.789+19T>C	not provided [RCV003870966]	likely benign	2	177442505	177442505	Human		name
402513191	CV3178447	single nucleotide variant	NM_003659.4(AGPS):c.1234-6A>C	not provided [RCV003879064]	likely benign	2	177493142	177493142	Human		name
597904480	CV3738302	single nucleotide variant	NM_003659.4(AGPS):c.1285+7A>T	not provided [RCV005072724]	likely benign	2	177493206	177493206	Human		name
597849604	CV3793114	single nucleotide variant	NM_003659.4(AGPS):c.996+14T>A	not provided [RCV005145250]	likely benign	2	177462032	177462032	Human		name
597954783	CV3796056	single nucleotide variant	NM_003659.4(AGPS):c.789+17G>C	not provided [RCV005136873]	likely benign	2	177442503	177442503	Human		name
597937342	CV3807825	single nucleotide variant	NM_003659.4(AGPS):c.1546-5A>T	not provided [RCV005158204]	likely benign	2	177507965	177507965	Human		name
15134644	CV774641	single nucleotide variant	NM_003659.4(AGPS):c.441+10C>T	not provided [RCV000942782]	likely benign	2	177434427	177434427	Human		name
15101470	CV787073	single nucleotide variant	NM_003659.4(AGPS):c.260+10G>C	not provided [RCV000975590]	likely benign	2	177393059	177393059	Human		name
15121729	CV787122	single nucleotide variant	NM_003659.4(AGPS):c.1856-4C>G	not provided [RCV000979518]	likely benign	2	177538070	177538070	Human		name
41407355	CV981348	deletion	NM_003659.4(AGPS):c.563-10del	Rhizomelic chondrodysplasia punctata type 3 [RCV001289657]\|not provided [RCV002070101]	benign	2	177436969	177436969	Human	1	name , alternate_id
127317507	CV1132510	single nucleotide variant	NM_003659.4(AGPS):c.1855+10T>C	not provided [RCV001483172]	likely benign	2	177523815	177523815	Human		name
150339145	CV1174651	single nucleotide variant	NM_003659.4(AGPS):c.1362+79G>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001543209]\|not provided [RCV001685468]	benign	2	177497844	177497844	Human	1	name , alternate_id
150339146	CV1174652	single nucleotide variant	NM_003659.4(AGPS):c.1608-95T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV001543210]\|not provided [RCV001638138]	benign	2	177513724	177513724	Human	1	name , alternate_id
150411283	CV1176036	single nucleotide variant	NM_003659.4(AGPS):c.870+227G>A	not provided [RCV001547082]	likely benign	2	177445853	177445853	Human		name
150426991	CV1186312	single nucleotide variant	NM_003659.4(AGPS):c.351-198T>G	not provided [RCV001560320]	likely benign	2	177434129	177434129	Human		name
150413142	CV1189738	single nucleotide variant	NM_003659.4(AGPS):c.1855+85T>C	not provided [RCV001567114]	likely benign	2	177523890	177523890	Human		name
150417983	CV1196742	single nucleotide variant	NM_003659.4(AGPS):c.261-175T>C	not provided [RCV001576543]	likely benign	2	177420094	177420094	Human		name
150448339	CV1202019	single nucleotide variant	NM_003659.4(AGPS):c.996+257C>T	not provided [RCV001584889]	likely benign	2	177462275	177462275	Human		name
150468049	CV1207196	single nucleotide variant	NM_003659.4(AGPS):c.350+215A>G	not provided [RCV001587988]	likely benign	2	177420573	177420573	Human		name
150498570	CV1208942	single nucleotide variant	NM_003659.4(AGPS):c.1797+99C>T	not provided [RCV001594159]	likely benign	2	177521467	177521467	Human		name
150502518	CV1212253	single nucleotide variant	NM_003659.4(AGPS):c.996+148G>A	not provided [RCV001595126]	benign	2	177462166	177462166	Human		name
150485507	CV1223011	duplication	NM_003659.4(AGPS):c.350+273dup	not provided [RCV001617723]	benign	2	177420627	177420628	Human		name
150500473	CV1224797	single nucleotide variant	NM_003659.4(AGPS):c.871-151A>G	not provided [RCV001620629]	benign	2	177461742	177461742	Human		name
150460834	CV1231398	single nucleotide variant	NM_003659.4(AGPS):c.1545+77T>A	not provided [RCV001640963]	benign	2	177505652	177505652	Human		name
150440925	CV1233461	single nucleotide variant	NM_003659.4(AGPS):c.996+101G>A	not provided [RCV001645149]	benign	2	177462119	177462119	Human		name
150431550	CV1243734	single nucleotide variant	NM_003659.4(AGPS):c.1362+44A>G	not provided [RCV001663354]	likely benign	2	177497809	177497809	Human		name
150468589	CV1259519	deletion	NM_003659.4(AGPS):c.871-129del	not provided [RCV001683819]	benign	2	177461749	177461749	Human		name
150446438	CV1261364	duplication	NM_003659.4(AGPS):c.871-129dup	not provided [RCV001680038]	benign	2	177461748	177461749	Human		name
150454062	CV1265944	single nucleotide variant	NM_003659.4(AGPS):c.1234-39A>G	not provided [RCV001692521]	benign	2	177493109	177493109	Human		name
150464572	CV1276424	single nucleotide variant	NM_003659.4(AGPS):c.260+324T>C	not provided [RCV001710369]	benign	2	177393373	177393373	Human		name
150480993	CV1279633	single nucleotide variant	NM_003659.4(AGPS):c.789+116C>T	not provided [RCV001714757]	benign	2	177442602	177442602	Human		name
150497316	CV1283537	single nucleotide variant	NM_003659.4(AGPS):c.1475+33G>C	not provided [RCV001717832]	benign	2	177499763	177499763	Human		name
151349644	CV1321517	single nucleotide variant	NM_003659.4(AGPS):c.1797+11A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001802498]\|not provided [RCV002077242]	likely benign	2	177521379	177521379	Human	1	name , alternate_id
152142375	CV1526661	single nucleotide variant	NM_003659.4(AGPS):c.1545+13A>G	not provided [RCV002084332]	likely benign	2	177505588	177505588	Human		name
152065475	CV1539774	single nucleotide variant	NM_003659.4(AGPS):c.1286-10C>G	not provided [RCV002147361]	likely benign	2	177497679	177497679	Human		name
152113090	CV1585869	deletion	NM_003659.4(AGPS):c.1363-18del	not provided [RCV002153314]	likely benign	2	177499598	177499598	Human		name
152134314	CV1590406	single nucleotide variant	NM_003659.4(AGPS):c.1363-18A>T	not provided [RCV002218501]	benign	2	177499600	177499600	Human		name
152064359	CV1606814	single nucleotide variant	NM_003659.4(AGPS):c.1105+18T>C	not provided [RCV002209111]	likely benign	2	177468542	177468542	Human		name
152028596	CV1642857	single nucleotide variant	NM_003659.4(AGPS):c.1233+12A>T	not provided [RCV002185889]	likely benign	2	177482198	177482198	Human		name
156072236	CV1971960	single nucleotide variant	NM_003659.4(AGPS):c.1608-17C>T	not provided [RCV002591306]	likely benign	2	177513802	177513802	Human		name
156239403	CV2115828	single nucleotide variant	NM_003659.4(AGPS):c.1106-18C>T	not provided [RCV002919241]	likely benign	2	177482041	177482041	Human		name
155927995	CV2145258	single nucleotide variant	NM_003659.4(AGPS):c.1285+12G>C	not provided [RCV003013500]	likely benign	2	177493211	177493211	Human		name
156072934	CV2163723	single nucleotide variant	NM_003659.4(AGPS):c.1798-10C>T	not provided [RCV003020094]	likely benign	2	177523738	177523738	Human		name
11545165	CV250406	single nucleotide variant	NM_003659.4(AGPS):c.1856-16G>T	Rhizomelic chondrodysplasia punctata type 3 [RCV001543211]\|not provided [RCV000676028]\|not specified [RCV000244768]	benign	2	177538058	177538058	Human	1	name , alternate_id
11579037	CV283029	single nucleotide variant	NM_003659.4(AGPS):c.1233+14T>A	Rhizomelic chondrodysplasia punctata type 3 [RCV000294138]\|not provided [RCV002057610]	benign\|likely benign\|uncertain significance	2	177482200	177482200	Human	1	name , alternate_id
11661404	CV283073	microsatellite	NM_003659.4(AGPS):c.*1880AT[7]	Rhizomelic chondrodysplasia punctata [RCV000375669]\|not provided [RCV004694506]	uncertain significance	2	177540074	177540079	Human		name
11587108	CV283074	microsatellite	NM_003659.4(AGPS):c.*1880AT[8]	Rhizomelic chondrodysplasia punctata [RCV000292898]	conflicting interpretations of pathogenicity	2	177540074	177540077	Human		name
11597052	CV285526	single nucleotide variant	NM_003659.4(AGPS):c.1698-14T>C	Rhizomelic chondrodysplasia punctata type 3 [RCV000389384]\|not provided [RCV002057611]\|not specified [RCV000607940]	benign\|likely benign\|uncertain significance	2	177521255	177521255	Human	1	name , alternate_id
11654755	CV285556	microsatellite	NM_003659.4(AGPS):c.*1868GT[7]	Rhizomelic chondrodysplasia punctata [RCV000320282]	uncertain significance	2	177540061	177540062	Human		name
405042575	CV2862836	single nucleotide variant	NM_003659.4(AGPS):c.1362+10T>G	not provided [RCV003579173]	likely benign	2	177497775	177497775	Human		name
405199166	CV2880570	deletion	NM_003659.4(AGPS):c.1105+12del	not provided [RCV003551117]	likely benign	2	177468536	177468536	Human		name
405224778	CV2885489	single nucleotide variant	NM_003659.4(AGPS):c.1797+17G>A	not provided [RCV003554410]	likely benign	2	177521385	177521385	Human		name
405227000	CV2892405	single nucleotide variant	NM_003659.4(AGPS):c.1233+18T>C	not provided [RCV003554730]	likely benign	2	177482204	177482204	Human		name
405240552	CV2892844	single nucleotide variant	NM_003659.4(AGPS):c.1608-20A>G	not provided [RCV003557252]	likely benign	2	177513799	177513799	Human		name
405231824	CV2895784	single nucleotide variant	NM_003659.4(AGPS):c.1286-19A>T	not provided [RCV003555590]	likely benign	2	177497670	177497670	Human		name
405171482	CV2897373	single nucleotide variant	NM_003659.4(AGPS):c.1545+20C>T	not provided [RCV003563094]	likely benign	2	177505595	177505595	Human		name
405112024	CV2903144	single nucleotide variant	NM_003659.4(AGPS):c.1233+15A>G	not provided [RCV003557948]	likely benign	2	177482201	177482201	Human		name
405164561	CV2905593	single nucleotide variant	NM_003659.4(AGPS):c.1475+17A>G	not provided [RCV003562582]	likely benign	2	177499747	177499747	Human		name
402479599	CV2914515	single nucleotide variant	NM_003659.4(AGPS):c.1475+11A>C	not provided [RCV003571745]	likely benign	2	177499741	177499741	Human		name
402465699	CV2916696	single nucleotide variant	NM_003659.4(AGPS):c.1105+11C>T	not provided [RCV003569223]	likely benign	2	177468535	177468535	Human		name
405184826	CV2920377	single nucleotide variant	NM_003659.4(AGPS):c.1608-16A>G	not provided [RCV003564281]	likely benign	2	177513803	177513803	Human		name
405009533	CV2927003	single nucleotide variant	NM_003659.4(AGPS):c.1607+19C>A	not provided [RCV003576587]	likely benign	2	177508050	177508050	Human		name
405092149	CV2937430	single nucleotide variant	NM_003659.4(AGPS):c.1797+15C>T	not provided [RCV003665301]	likely benign	2	177521383	177521383	Human		name
405130014	CV2953497	single nucleotide variant	NM_003659.4(AGPS):c.1362+12T>A	not provided [RCV003672253]	likely benign	2	177497777	177497777	Human		name
405151053	CV2959686	deletion	NM_003659.4(AGPS):c.1698-10del	not provided [RCV003673962]	likely benign	2	177521257	177521257	Human		name
405218386	CV2968560	single nucleotide variant	NM_003659.4(AGPS):c.1106-10T>C	not provided [RCV003680249]	likely benign	2	177482049	177482049	Human		name
402497762	CV2988932	single nucleotide variant	NM_003659.4(AGPS):c.1608-17C>G	not provided [RCV003714427]	likely benign	2	177513802	177513802	Human		name
404989537	CV2998471	single nucleotide variant	NM_003659.4(AGPS):c.1607+10A>G	not provided [RCV003692027]	likely benign	2	177508041	177508041	Human		name
402523613	CV3014977	single nucleotide variant	NM_003659.4(AGPS):c.1363-13T>C	not provided [RCV003690483]	likely benign	2	177499605	177499605	Human		name
405060369	CV3019803	single nucleotide variant	NM_003659.4(AGPS):c.1285+16T>C	not provided [RCV003697520]	likely benign	2	177493215	177493215	Human		name
405182160	CV3024312	single nucleotide variant	NM_003659.4(AGPS):c.1545+20C>G	not provided [RCV003705561]	likely benign	2	177505595	177505595	Human		name
405093734	CV3026045	single nucleotide variant	NM_003659.4(AGPS):c.1545+19C>T	not provided [RCV003699822]	likely benign	2	177505594	177505594	Human		name
405198136	CV3032633	deletion	NM_003659.4(AGPS):c.1607+12del	not provided [RCV003707099]	likely benign	2	177508043	177508043	Human		name
402480102	CV3033136	single nucleotide variant	NM_003659.4(AGPS):c.1545+19C>A	not provided [RCV003712657]	likely benign	2	177505594	177505594	Human		name
402500743	CV3035195	deletion	NM_003659.4(AGPS):c.1698-14del	not provided [RCV003714616]	benign	2	177521252	177521252	Human		name
405224306	CV3035770	single nucleotide variant	NM_003659.4(AGPS):c.1546-16G>A	not provided [RCV003710315]	likely benign	2	177507954	177507954	Human		name
405185426	CV3040297	single nucleotide variant	NM_003659.4(AGPS):c.1607+18G>C	not provided [RCV003705912]	likely benign	2	177508049	177508049	Human		name
405203047	CV3041369	single nucleotide variant	NM_003659.4(AGPS):c.1233+16T>C	not provided [RCV003707469]	likely benign	2	177482202	177482202	Human		name
405218503	CV3048998	single nucleotide variant	NM_003659.4(AGPS):c.1234-20T>C	not provided [RCV003732910]	likely benign	2	177493128	177493128	Human		name
405203446	CV3052687	single nucleotide variant	NM_003659.4(AGPS):c.1855+12T>G	not provided [RCV003730950]	likely benign	2	177523817	177523817	Human		name
405127336	CV3053415	single nucleotide variant	NM_003659.4(AGPS):c.1697+16T>C	not provided [RCV003724375]	likely benign	2	177513924	177513924	Human		name
405156417	CV3064764	single nucleotide variant	NM_003659.4(AGPS):c.1285+12G>A	not provided [RCV003726701]	likely benign	2	177493211	177493211	Human		name
405193080	CV3066039	single nucleotide variant	NM_003659.4(AGPS):c.1286-17C>G	not provided [RCV003729826]	likely benign	2	177497672	177497672	Human		name
405234807	CV3071033	single nucleotide variant	NM_003659.4(AGPS):c.1363-17T>A	not provided [RCV003735651]	likely benign	2	177499601	177499601	Human		name
405215801	CV3075340	single nucleotide variant	NM_003659.4(AGPS):c.1798-17G>A	not provided [RCV003732542]	likely benign	2	177523731	177523731	Human		name
405026840	CV3079221	single nucleotide variant	NM_003659.4(AGPS):c.1285+18A>G	not provided [RCV003738785]	likely benign	2	177493217	177493217	Human		name
405237200	CV3080660	single nucleotide variant	NM_003659.4(AGPS):c.1797+19A>G	not provided [RCV003736066]	likely benign	2	177521387	177521387	Human		name
404980203	CV3120974	single nucleotide variant	NM_003659.4(AGPS):c.1363-19A>C	not provided [RCV003825966]	likely benign	2	177499599	177499599	Human		name
405183819	CV3124051	single nucleotide variant	NM_003659.4(AGPS):c.1106-11C>G	not provided [RCV003820247]	likely benign	2	177482048	177482048	Human		name
405057119	CV3138616	single nucleotide variant	NM_003659.4(AGPS):c.1233+19A>G	not provided [RCV003832461]	likely benign	2	177482205	177482205	Human		name
405212374	CV3146401	single nucleotide variant	NM_003659.4(AGPS):c.1286-14T>C	not provided [RCV003845933]	likely benign	2	177497675	177497675	Human		name
405229827	CV3153452	single nucleotide variant	NM_003659.4(AGPS):c.1798-14G>C	not provided [RCV003848517]	likely benign	2	177523734	177523734	Human		name
405237111	CV3169088	single nucleotide variant	NM_003659.4(AGPS):c.1363-16T>A	not provided [RCV003866367]	likely benign	2	177499602	177499602	Human		name
597835211	CV3760924	single nucleotide variant	NM_003659.4(AGPS):c.1105+13G>A	not provided [RCV005085475]	likely benign	2	177468537	177468537	Human		name
597914548	CV3767253	single nucleotide variant	NM_003659.4(AGPS):c.1476-13T>C	not provided [RCV005114244]	likely benign	2	177505493	177505493	Human		name
597941150	CV3769084	single nucleotide variant	NM_003659.4(AGPS):c.1285+14G>A	not provided [RCV005118579]	likely benign	2	177493213	177493213	Human		name
597915974	CV3814567	single nucleotide variant	NM_003659.4(AGPS):c.1856-16G>C	not provided [RCV005154882]	likely benign	2	177538058	177538058	Human		name
14745961	CV658391	single nucleotide variant	NM_003659.4(AGPS):c.351-194G>A	not provided [RCV000843933]	benign	2	177434133	177434133	Human		name
14745962	CV658405	single nucleotide variant	NM_003659.4(AGPS):c.442-325T>C	not provided [RCV000843934]	benign	2	177436439	177436439	Human		name
14745964	CV658427	single nucleotide variant	NM_003659.4(AGPS):c.637+275A>G	not provided [RCV000843936]	benign	2	177437329	177437329	Human		name
14745965	CV658434	single nucleotide variant	NM_003659.4(AGPS):c.638-256A>G	not provided [RCV000843937]	benign	2	177440709	177440709	Human		name
14745978	CV658436	single nucleotide variant	NM_003659.4(AGPS):c.996+206A>G	not provided [RCV000843953]	benign	2	177462224	177462224	Human		name
14743983	CV658450	single nucleotide variant	NM_003659.4(AGPS):c.1856-15A>T	not provided [RCV000842451]	likely benign	2	177538059	177538059	Human		name
28867940	CV882858	single nucleotide variant	NM_003659.4(AGPS):c.1475+12A>G	Rhizomelic chondrodysplasia punctata type 3 [RCV001129586]\|not provided [RCV002070515]	benign\|uncertain significance	2	177499742	177499742	Human	1	name , alternate_id
150408707	CV1176037	single nucleotide variant	NM_003659.4(AGPS):c.1546-159G>C	not provided [RCV001545998]	likely benign	2	177507811	177507811	Human		name
150422986	CV1179378	single nucleotide variant	NM_003659.4(AGPS):c.1105+339G>A	not provided [RCV001553397]	likely benign	2	177468863	177468863	Human		name
150427802	CV1186313	single nucleotide variant	NM_003659.4(AGPS):c.1234-228T>C	not provided [RCV001561413]	likely benign	2	177492920	177492920	Human		name
150407056	CV1192993	single nucleotide variant	NM_003659.4(AGPS):c.1607+171G>A	not provided [RCV001572226]	likely benign	2	177508202	177508202	Human		name
150514360	CV1211968	single nucleotide variant	NM_003659.4(AGPS):c.1363-345C>G	not provided [RCV001599037]	benign	2	177499273	177499273	Human		name
150454610	CV1220310	single nucleotide variant	NM_003659.4(AGPS):c.1545+125C>T	not provided [RCV001612402]	benign	2	177505700	177505700	Human		name
11653879	CV283059	microsatellite	NM_003659.4(AGPS):c.*1838AT[10]	Rhizomelic chondrodysplasia punctata [RCV000313573]	uncertain significance	2	177540032	177540033	Human		name
11648021	CV283075	microsatellite	NM_003659.4(AGPS):c.*1880AT[11]	Rhizomelic chondrodysplasia punctata [RCV000279545]	uncertain significance	2	177540073	177540074	Human		name
11664607	CV283855	microsatellite	NM_003659.4(AGPS):c.*1838AT[12]	Rhizomelic chondrodysplasia punctata [RCV000407302]\|not provided [RCV004694505]	uncertain significance	2	177540031	177540032	Human		name
11656636	CV285554	microsatellite	NM_003659.4(AGPS):c.*1713TGA[1]	Rhizomelic chondrodysplasia punctata [RCV000334954]	likely benign	2	177539908	177539910	Human		name
14720341	CV658393	single nucleotide variant	NM_003659.4(AGPS):c.1106-213T>G	not provided [RCV000831178]	benign	2	177481846	177481846	Human		name
14745985	CV658411	single nucleotide variant	NM_003659.4(AGPS):c.1285+306G>T	not provided [RCV000843960]	benign	2	177493505	177493505	Human		name
14745987	CV658412	single nucleotide variant	NM_003659.4(AGPS):c.1476-194T>C	not provided [RCV000843962]	benign	2	177505312	177505312	Human		name
14745988	CV658416	single nucleotide variant	NM_003659.4(AGPS):c.1798-312T>G	not provided [RCV000843963]	benign	2	177523436	177523436	Human		name
14745982	CV658437	single nucleotide variant	NM_003659.4(AGPS):c.1234-231G>C	not provided [RCV000843957]	benign	2	177492917	177492917	Human		name
14745983	CV658447	single nucleotide variant	NM_003659.4(AGPS):c.1285+145C>T	not provided [RCV000843958]	benign	2	177493344	177493344	Human		name
150419258	CV1179377	microsatellite	NM_003659.4(AGPS):c.350+203TA[6]	not provided [RCV001550965]	likely benign	2	177420560	177420561	Human		name
152030646	CV1534318	microsatellite	NM_003659.4(AGPS):c.1233+13AT[7]	Rhizomelic chondrodysplasia punctata type 3 [RCV003617947]\|not provided [RCV002086188]	benign\|likely benign	2	177482198	177482199	Human		name , alternate_id
401940723	CV2834175	deletion	NM_003659.4(AGPS):c.557_562+5del	Rhizomelic chondrodysplasia punctata type 3 [RCV003459987]	likely pathogenic	2	177436877	177436887	Human	1	name , alternate_id
11663149	CV285935	deletion	NM_003659.4(AGPS):c.467_475del	Rhizomelic chondrodysplasia punctata [RCV000392855]	uncertain significance	2	177538659	177538667	Human	1	name
402524724	CV3015142	microsatellite	NM_003659.4(AGPS):c.1233+13AT[8]	not provided [RCV003690556]	likely benign	2	177482198	177482199	Human		name
152045049	CV1534601	single nucleotide variant	NM_003659.4(AGPS):c.6G>A (p.Ala2=)	AGPS-related disorder [RCV003913636]\|not provided [RCV002088453]	likely benign	2	177392795	177392795	Human	1	name , trait , alternate_id
152027325	CV1626868	single nucleotide variant	NM_003659.4(AGPS):c.6G>T (p.Ala2=)	not provided [RCV002185459]	likely benign	2	177392795	177392795	Human		name
156025850	CV2078078	single nucleotide variant	NM_003659.4(AGPS):c.9G>A (p.Glu3=)	not provided [RCV002866833]	likely benign	2	177392798	177392798	Human		name
11646173	CV283061	deletion	NM_003659.4(AGPS):c.1862_1863del	Rhizomelic chondrodysplasia punctata [RCV000269100]	uncertain significance	2	177540056	177540057	Human	1	name
11660848	CV283856	duplication	NM_003659.4(AGPS):c.1860_1861dup	Rhizomelic chondrodysplasia punctata [RCV000370754]	uncertain significance	2	177540053	177540054	Human	1	name
11593593	CV283871	microsatellite	NM_003659.4(AGPS):c.*3911AGTTTT[1]	Rhizomelic chondrodysplasia punctata [RCV000350310]\|not provided [RCV004694507]	uncertain significance	2	177542102	177542107	Human		name
11584236	CV285555	deletion	NM_003659.4(AGPS):c.1866_1867del	Rhizomelic chondrodysplasia punctata [RCV000272184]	uncertain significance	2	177540061	177540062	Human	1	name
11660464	CV285947	deletion	NM_003659.4(AGPS):c.1836_1841del	Rhizomelic chondrodysplasia punctata [RCV000367127]	uncertain significance	2	177540031	177540036	Human	1	name
11655565	CV285954	deletion	NM_003659.4(AGPS):c.1862_1867del	Rhizomelic chondrodysplasia punctata [RCV000326618]	uncertain significance	2	177540056	177540061	Human	1	name
11655243	CV285955	deletion	NM_003659.4(AGPS):c.1878_1883del	Rhizomelic chondrodysplasia punctata [RCV000324204]	uncertain significance	2	177540072	177540077	Human	1	name
11660937	CV285957	deletion	NM_003659.4(AGPS):c.1878_1885del	Rhizomelic chondrodysplasia punctata [RCV000371806]	uncertain significance	2	177540072	177540079	Human	1	name
11583515	CV285995	deletion	NM_003659.4(AGPS):c.4516_4517del	Rhizomelic chondrodysplasia punctata [RCV000267098]	benign	2	177542711	177542712	Human	1	name
15114947	CV787113	duplication	NM_003659.4(AGPS):c.351-5_351-4dup	not provided [RCV000978312]	likely benign	2	177434321	177434322	Human		name
127242272	CV1068368	single nucleotide variant	NM_003659.4(AGPS):c.27T>A (p.Gly9=)	not provided [RCV001398158]	likely benign	2	177392816	177392816	Human		name
127277912	CV1090094	deletion	NM_003659.4(AGPS):c.562+9_562+13del	not provided [RCV001444681]	likely benign	2	177436890	177436894	Human		name
152114015	CV1651011	single nucleotide variant	NM_003659.4(AGPS):c.15G>C (p.Ala5=)	not provided [RCV002153423]	likely benign	2	177392804	177392804	Human		name
401949718	CV2834184	duplication	NM_003659.4(AGPS):c.1546-84_1591dup	Rhizomelic chondrodysplasia punctata type 3 [RCV003475589]	likely pathogenic	2	177507885	177507886	Human	1	name , alternate_id
127259950	CV1068369	single nucleotide variant	NM_003659.4(AGPS):c.96C>T (p.Asp32=)	not provided [RCV001419943]	likely benign	2	177392885	177392885	Human		name
127232542	CV1090088	single nucleotide variant	NM_003659.4(AGPS):c.45G>C (p.Ala15=)	not provided [RCV001421349]	likely benign	2	177392834	177392834	Human		name
127238884	CV1090089	single nucleotide variant	NM_003659.4(AGPS):c.51G>T (p.Ala17=)	not provided [RCV001423016]	likely benign	2	177392840	177392840	Human		name
127246318	CV1090090	single nucleotide variant	NM_003659.4(AGPS):c.72C>T (p.Asp24=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001826235]\|not provided [RCV001424496]	likely benign	2	177392861	177392861	Human	1	name , alternate_id
127321506	CV1111603	microsatellite	NM_003659.4(AGPS):c.1286-5_1286-3del	not provided [RCV001467293]	likely benign	2	177497680	177497682	Human		name
127333190	CV1111605	deletion	NM_003659.4(AGPS):c.1476-7_1476-4del	not provided [RCV001472716]	likely benign	2	177505496	177505499	Human		name
151807094	CV1400221	single nucleotide variant	NM_003659.4(AGPS):c.5C>A (p.Ala2Glu)	not provided [RCV002012088]	uncertain significance	2	177392794	177392794	Human		name
152167287	CV1524624	single nucleotide variant	NM_003659.4(AGPS):c.81G>A (p.Arg27=)	not provided [RCV002142123]	likely benign	2	177392870	177392870	Human		name
152131134	CV1553015	single nucleotide variant	NM_003659.4(AGPS):c.78C>T (p.Asp26=)	not provided [RCV002199336]	likely benign	2	177392867	177392867	Human		name
152139859	CV1608351	single nucleotide variant	NM_003659.4(AGPS):c.37T>C (p.Leu13=)	not provided [RCV002200436]	likely benign	2	177392826	177392826	Human		name
152176511	CV1631470	single nucleotide variant	NM_003659.4(AGPS):c.60G>T (p.Gly20=)	not provided [RCV002164656]	likely benign	2	177392849	177392849	Human		name
155963646	CV1881892	single nucleotide variant	NM_003659.4(AGPS):c.30G>C (p.Gly10=)	not provided [RCV003074818]	likely benign	2	177392819	177392819	Human		name
156065834	CV2022323	single nucleotide variant	NM_003659.4(AGPS):c.90C>T (p.Asp30=)	not provided [RCV002760163]	likely benign	2	177392879	177392879	Human		name
155947570	CV2036048	single nucleotide variant	NM_003659.4(AGPS):c.69G>A (p.Ala23=)	not provided [RCV002775580]	likely benign	2	177392858	177392858	Human		name
156343554	CV2051698	single nucleotide variant	NM_003659.4(AGPS):c.36C>T (p.Gly12=)	not provided [RCV002811332]	likely benign	2	177392825	177392825	Human		name
156318436	CV2071200	single nucleotide variant	NM_003659.4(AGPS):c.45G>A (p.Ala15=)	not provided [RCV002834543]	likely benign	2	177392834	177392834	Human		name
156024928	CV2185481	single nucleotide variant	NM_003659.4(AGPS):c.60G>A (p.Gly20=)	not provided [RCV003035917]	likely benign	2	177392849	177392849	Human		name
11649145	CV283864	insertion	NM_003659.4(AGPS):c.1868_1869insCG	Rhizomelic chondrodysplasia punctata [RCV000285569]	uncertain significance	2	177540062	177540063	Human	1	name
405175528	CV2864578	single nucleotide variant	NM_003659.4(AGPS):c.48C>A (p.Gly16=)	not provided [RCV003542722]	likely benign	2	177392837	177392837	Human		name
402478301	CV2909891	microsatellite	NM_003659.4(AGPS):c.1698-9_1698-6del	not provided [RCV003571786]	likely benign	2	177521253	177521256	Human		name
405224364	CV2919930	single nucleotide variant	NM_003659.4(AGPS):c.48C>T (p.Gly16=)	not provided [RCV003568900]	likely benign	2	177392837	177392837	Human		name
405198525	CV2973138	single nucleotide variant	NM_003659.4(AGPS):c.81G>C (p.Arg27=)	not provided [RCV003677943]	likely benign	2	177392870	177392870	Human		name
404984466	CV2983066	single nucleotide variant	NM_003659.4(AGPS):c.69G>C (p.Ala23=)	not provided [RCV003691661]	likely benign	2	177392858	177392858	Human		name
405016707	CV2991669	microsatellite	NM_003659.4(AGPS):c.441+19_441+21del	not provided [RCV003694470]	likely benign	2	177434432	177434434	Human		name
405241681	CV3014542	single nucleotide variant	NM_003659.4(AGPS):c.93G>T (p.Pro31=)	not provided [RCV003719334]	likely benign	2	177392882	177392882	Human		name
405159151	CV3065118	single nucleotide variant	NM_003659.4(AGPS):c.84C>T (p.Asp28=)	not provided [RCV003726867]	likely benign	2	177392873	177392873	Human		name
405220869	CV3157695	single nucleotide variant	NM_003659.4(AGPS):c.33T>A (p.Thr11=)	not provided [RCV003863387]	likely benign	2	177392822	177392822	Human		name
13516043	CV491329	single nucleotide variant	NM_003659.4(AGPS):c.7G>A (p.Glu3Lys)	not provided [RCV000595030]	uncertain significance	2	177392796	177392796	Human		name
15153897	CV746964	single nucleotide variant	NM_003659.4(AGPS):c.54C>T (p.Ser18=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001276314]\|not provided [RCV000924147]	likely benign\|uncertain significance	2	177392843	177392843	Human	1	name , alternate_id
15101373	CV780975	single nucleotide variant	NM_003659.4(AGPS):c.75G>A (p.Arg25=)	not provided [RCV000975572]	likely benign	2	177392864	177392864	Human		name
40906096	CV977643	single nucleotide variant	NM_003659.4(AGPS):c.57C>T (p.Tyr19=)	Rhizomelic chondrodysplasia punctata [RCV001279422]\|not provided [RCV002069460]	likely benign\|uncertain significance	2	177392846	177392846	Human	1	name
127269349	CV1090091	single nucleotide variant	NM_003659.4(AGPS):c.153G>A (p.Glu51=)	not provided [RCV001430254]	likely benign	2	177392942	177392942	Human		name
127250628	CV1090092	single nucleotide variant	NM_003659.4(AGPS):c.183G>A (p.Arg61=)	not provided [RCV001425409]	likely benign	2	177392972	177392972	Human		name
127271672	CV1090093	single nucleotide variant	NM_003659.4(AGPS):c.204G>C (p.Thr68=)	not provided [RCV001431052]	likely benign	2	177392993	177392993	Human		name
127332223	CV1111584	single nucleotide variant	NM_003659.4(AGPS):c.159G>C (p.Leu53=)	not provided [RCV001472097]	likely benign	2	177392948	177392948	Human		name
127308258	CV1111585	single nucleotide variant	NM_003659.4(AGPS):c.192G>C (p.Ala64=)	AGPS-related disorder [RCV003930955]\|not provided [RCV001456033]	likely benign	2	177392981	177392981	Human	1	name , trait , alternate_id
127317855	CV1111586	single nucleotide variant	NM_003659.4(AGPS):c.240G>T (p.Ser80=)	not provided [RCV001466011]	likely benign	2	177393029	177393029	Human		name
127318372	CV1132488	single nucleotide variant	NM_003659.4(AGPS):c.141C>A (p.Gly47=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001832632]\|not provided [RCV001483505]	likely benign	2	177392930	177392930	Human	1	name , alternate_id
127335757	CV1132489	single nucleotide variant	NM_003659.4(AGPS):c.189C>T (p.Ala63=)	not provided [RCV001491704]	likely benign	2	177392978	177392978	Human		name
152083108	CV1525274	single nucleotide variant	NM_003659.4(AGPS):c.183G>T (p.Arg61=)	not provided [RCV002131078]	likely benign	2	177392972	177392972	Human		name
152152060	CV1545668	single nucleotide variant	NM_003659.4(AGPS):c.225C>G (p.Pro75=)	not provided [RCV002179605]	likely benign	2	177393014	177393014	Human		name
152136193	CV1560582	single nucleotide variant	NM_003659.4(AGPS):c.120T>C (p.Val40=)	not provided [RCV002137573]	likely benign	2	177392909	177392909	Human		name
152157535	CV1573237	single nucleotide variant	NM_003659.4(AGPS):c.117G>T (p.Arg39=)	not provided [RCV002180340]	likely benign	2	177392906	177392906	Human		name
152104599	CV1574821	single nucleotide variant	NM_003659.4(AGPS):c.147C>A (p.Pro49=)	not provided [RCV002095984]	likely benign	2	177392936	177392936	Human		name
152122838	CV1594043	single nucleotide variant	NM_003659.4(AGPS):c.180G>A (p.Ala60=)	not provided [RCV002175808]	likely benign	2	177392969	177392969	Human		name
152067436	CV1600164	single nucleotide variant	NM_003659.4(AGPS):c.246C>A (p.Thr82=)	not provided [RCV002110978]	likely benign	2	177393035	177393035	Human		name
9681849	CV167559	single nucleotide variant	NM_003659.4(AGPS):c.147C>T (p.Pro49=)	Rhizomelic chondrodysplasia punctata [RCV001276315]\|Rhizomelic chondrodysplasia punctata type 3 [RCV001001695]\|not provided [RCV000676025]\|not specified [RCV000145009]	benign\|likely benign\|uncertain significance	2	177392936	177392936	Human	2	name , alternate_id
9681850	CV167560	single nucleotide variant	NM_003659.4(AGPS):c.207A>G (p.Ala69=)	Rhizomelic chondrodysplasia punctata [RCV001274999]\|Rhizomelic chondrodysplasia punctata type 3 [RCV000364436]\|not provided [RCV001515645]\|not specified [RCV000145010]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	177392996	177392996	Human	2	name , alternate_id
156288230	CV1997986	single nucleotide variant	NM_003659.4(AGPS):c.231G>T (p.Ala77=)	not provided [RCV002647091]	likely benign	2	177393020	177393020	Human		name
156213332	CV2074358	single nucleotide variant	NM_003659.4(AGPS):c.240G>C (p.Ser80=)	not provided [RCV002829385]	likely benign	2	177393029	177393029	Human		name
156337446	CV2095958	single nucleotide variant	NM_003659.4(AGPS):c.243C>T (p.Gly81=)	not provided [RCV002900285]	likely benign\|uncertain significance	2	177393032	177393032	Human		name
155930300	CV2129097	single nucleotide variant	NM_003659.4(AGPS):c.26G>C (p.Gly9Ala)	not provided [RCV002970596]	uncertain significance	2	177392815	177392815	Human		name
156074973	CV2165461	single nucleotide variant	NM_003659.4(AGPS):c.133C>T (p.Leu45=)	not provided [RCV003037687]	likely benign	2	177392922	177392922	Human		name
156345537	CV2382250	single nucleotide variant	NM_003659.4(AGPS):c.10G>T (p.Ala4Ser)	Inborn genetic diseases [RCV002719664]	uncertain significance	2	177392799	177392799	Human	1	name
11663098	CV283027	single nucleotide variant	NM_003659.4(AGPS):c.108G>A (p.Arg36=)	Rhizomelic chondrodysplasia punctata type 3 [RCV000392211]	uncertain significance	2	177392897	177392897	Human	1	name , alternate_id
405184950	CV2920394	single nucleotide variant	NM_003659.4(AGPS):c.297T>C (p.Asn99=)	not provided [RCV003564288]	likely benign	2	177420305	177420305	Human		name
405010171	CV2923334	single nucleotide variant	NM_003659.4(AGPS):c.213C>T (p.Pro71=)	not provided [RCV003576665]	likely benign	2	177393002	177393002	Human		name
405100321	CV2938022	single nucleotide variant	NM_003659.4(AGPS):c.105G>A (p.Gly35=)	not provided [RCV003665766]	likely benign	2	177392894	177392894	Human		name
405092040	CV2947004	single nucleotide variant	NM_003659.4(AGPS):c.123C>G (p.Leu41=)	not provided [RCV003665351]	likely benign	2	177392912	177392912	Human		name
405229329	CV2977074	single nucleotide variant	NM_003659.4(AGPS):c.225C>T (p.Pro75=)	not provided [RCV003711183]	likely benign	2	177393014	177393014	Human		name
402488738	CV2995613	single nucleotide variant	NM_003659.4(AGPS):c.201C>T (p.Ala67=)	not provided [RCV003687324]	likely benign	2	177392990	177392990	Human		name
405094834	CV3055478	single nucleotide variant	NM_003659.4(AGPS):c.192G>A (p.Ala64=)	not provided [RCV003718089]	likely benign	2	177392981	177392981	Human		name
405237176	CV3080801	deletion	NM_003659.4(AGPS):c.1234-15_1234-8del	not provided [RCV003736109]	likely benign	2	177493128	177493135	Human		name
405153005	CV3135087	single nucleotide variant	NM_003659.4(AGPS):c.228C>G (p.Ala76=)	not provided [RCV003840199]	likely benign	2	177393017	177393017	Human		name
405142358	CV3155345	single nucleotide variant	NM_003659.4(AGPS):c.136C>T (p.Leu46=)	not provided [RCV003855583]	likely benign	2	177392925	177392925	Human		name
402512129	CV3178345	single nucleotide variant	NM_003659.4(AGPS):c.285A>G (p.Gly95=)	not provided [RCV003878962]	likely benign	2	177420293	177420293	Human		name
12847340	CV365962	single nucleotide variant	NM_003659.4(AGPS):c.20C>T (p.Ala7Val)	not provided [RCV002525363]\|not specified [RCV000443317]	likely benign\|uncertain significance	2	177392809	177392809	Human		name
597947515	CV3771700	single nucleotide variant	NM_003659.4(AGPS):c.165C>T (p.Thr55=)	not provided [RCV005120225]	likely benign	2	177392954	177392954	Human		name
597866350	CV3802821	single nucleotide variant	NM_003659.4(AGPS):c.142C>A (p.Arg48=)	not provided [RCV005147608]	likely benign	2	177392931	177392931	Human		name
15179473	CV719427	single nucleotide variant	NM_003659.4(AGPS):c.186A>G (p.Arg62=)	Rhizomelic chondrodysplasia punctata [RCV001276317]\|not provided [RCV000885299]	benign\|uncertain significance	2	177392975	177392975	Human	1	name
15107988	CV762437	single nucleotide variant	NM_003659.4(AGPS):c.157C>T (p.Leu53=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001133140]\|not provided [RCV000938068]	benign\|likely benign	2	177392946	177392946	Human	1	name , alternate_id
15171186	CV762438	single nucleotide variant	NM_003659.4(AGPS):c.228C>T (p.Ala76=)	not provided [RCV000927853]	likely benign	2	177393017	177393017	Human		name
28872282	CV881660	single nucleotide variant	NM_003659.4(AGPS):c.14C>T (p.Ala5Val)	Rhizomelic chondrodysplasia punctata [RCV001279420]\|Rhizomelic chondrodysplasia punctata type 3 [RCV001132210]	uncertain significance	2	177392803	177392803	Human	2	name , alternate_id
40906099	CV977646	single nucleotide variant	NM_003659.4(AGPS):c.231G>A (p.Ala77=)	Rhizomelic chondrodysplasia punctata [RCV001279425]\|not provided [RCV001480002]	likely benign\|uncertain significance	2	177393020	177393020	Human	1	name
40906100	CV977647	single nucleotide variant	NM_003659.4(AGPS):c.258G>A (p.Lys86=)	Rhizomelic chondrodysplasia punctata [RCV001279426]\|not provided [RCV001438549]	likely benign\|uncertain significance	2	177393047	177393047	Human	1	name
127243932	CV1068371	single nucleotide variant	NM_003659.4(AGPS):c.324G>A (p.Lys108=)	not provided [RCV001416270]	likely benign	2	177420332	177420332	Human		name
127242648	CV1068372	single nucleotide variant	NM_003659.4(AGPS):c.513T>G (p.Thr171=)	not provided [RCV001415994]	likely benign	2	177436835	177436835	Human		name
127275117	CV1090096	single nucleotide variant	NM_003659.4(AGPS):c.588G>A (p.Leu196=)	not provided [RCV001432185]	likely benign	2	177437005	177437005	Human		name
127334493	CV1111587	single nucleotide variant	NM_003659.4(AGPS):c.327C>T (p.Gly109=)	not provided [RCV001473592]	likely benign	2	177420335	177420335	Human		name
127315261	CV1111589	single nucleotide variant	NM_003659.4(AGPS):c.405C>A (p.Thr135=)	not provided [RCV001465175]	likely benign	2	177434381	177434381	Human		name
127292807	CV1111590	single nucleotide variant	NM_003659.4(AGPS):c.555A>G (p.Arg185=)	not provided [RCV001451829]	likely benign	2	177436877	177436877	Human		name
127304561	CV1111591	single nucleotide variant	NM_003659.4(AGPS):c.567T>C (p.His189=)	not provided [RCV001462294]	likely benign	2	177436984	177436984	Human		name
127308697	CV1111593	single nucleotide variant	NM_003659.4(AGPS):c.684T>C (p.Tyr228=)	not provided [RCV001463366]	likely benign	2	177441011	177441011	Human		name
127330314	CV1111594	single nucleotide variant	NM_003659.4(AGPS):c.873T>C (p.Leu291=)	not provided [RCV001470801]	likely benign	2	177461895	177461895	Human		name
127291726	CV1111595	single nucleotide variant	NM_003659.4(AGPS):c.909T>C (p.Asp303=)	not provided [RCV001458817]	likely benign	2	177461931	177461931	Human		name
127333666	CV1111596	single nucleotide variant	NM_003659.4(AGPS):c.915G>A (p.Leu305=)	not provided [RCV001473070]	likely benign	2	177461937	177461937	Human		name
127311286	CV1111597	single nucleotide variant	NM_003659.4(AGPS):c.927T>C (p.Thr309=)	not provided [RCV001464132]	likely benign	2	177461949	177461949	Human		name
127306782	CV1132491	single nucleotide variant	NM_003659.4(AGPS):c.360T>C (p.Leu120=)	not provided [RCV001480176]	likely benign	2	177434336	177434336	Human		name
127327829	CV1132492	single nucleotide variant	NM_003659.4(AGPS):c.405C>G (p.Thr135=)	not provided [RCV001486494]	likely benign	2	177434381	177434381	Human		name
127326589	CV1132493	single nucleotide variant	NM_003659.4(AGPS):c.405C>T (p.Thr135=)	not provided [RCV001506358]	likely benign	2	177434381	177434381	Human		name
127300587	CV1132495	single nucleotide variant	NM_003659.4(AGPS):c.733C>T (p.Leu245=)	not provided [RCV001498625]	likely benign	2	177442430	177442430	Human		name
127309393	CV1132496	single nucleotide variant	NM_003659.4(AGPS):c.735G>A (p.Leu245=)	not provided [RCV001501067]	likely benign	2	177442432	177442432	Human		name
127287986	CV1132497	single nucleotide variant	NM_003659.4(AGPS):c.831T>C (p.His277=)	not provided [RCV001495062]	likely benign	2	177445587	177445587	Human		name
127310533	CV1132498	single nucleotide variant	NM_003659.4(AGPS):c.837G>A (p.Glu279=)	not provided [RCV001501372]	likely benign	2	177445593	177445593	Human		name
127321005	CV1132499	single nucleotide variant	NM_003659.4(AGPS):c.975C>A (p.Ile325=)	not provided [RCV001504627]	likely benign	2	177461997	177461997	Human		name
150454963	CV1232372	deletion	NM_003659.4(AGPS):c.1476-21_1476-20del	not provided [RCV001648386]	benign	2	177505484	177505485	Human		name
151728910	CV1335271	single nucleotide variant	NM_003659.4(AGPS):c.71A>T (p.Asp24Val)	not specified [RCV001844589]	uncertain significance	2	177392860	177392860	Human		name
151728916	CV1335272	single nucleotide variant	NM_003659.4(AGPS):c.77A>T (p.Asp26Val)	not specified [RCV001844590]	uncertain significance	2	177392866	177392866	Human		name
151728920	CV1335273	single nucleotide variant	NM_003659.4(AGPS):c.89A>T (p.Asp30Val)	not specified [RCV001844591]	uncertain significance	2	177392878	177392878	Human		name
151831566	CV1354449	single nucleotide variant	NM_003659.4(AGPS):c.34G>C (p.Gly12Arg)	not provided [RCV001880360]	uncertain significance	2	177392823	177392823	Human		name
152055110	CV1521991	single nucleotide variant	NM_003659.4(AGPS):c.990G>A (p.Glu330=)	not provided [RCV002189867]	likely benign	2	177462012	177462012	Human		name
152168227	CV1524843	single nucleotide variant	NM_003659.4(AGPS):c.670C>T (p.Leu224=)	not provided [RCV002182370]	likely benign	2	177440997	177440997	Human		name
152167079	CV1534849	single nucleotide variant	NM_003659.4(AGPS):c.372T>A (p.Gly124=)	not provided [RCV002160780]	likely benign	2	177434348	177434348	Human		name
152038857	CV1538176	single nucleotide variant	NM_003659.4(AGPS):c.954A>T (p.Ala318=)	not provided [RCV002206033]	likely benign	2	177461976	177461976	Human		name
152059233	CV1540436	single nucleotide variant	NM_003659.4(AGPS):c.729T>C (p.Tyr243=)	not provided [RCV002109907]	likely benign	2	177442426	177442426	Human		name
152149342	CV1552355	single nucleotide variant	NM_003659.4(AGPS):c.522A>G (p.Ser174=)	not provided [RCV002157931]	likely benign	2	177436844	177436844	Human		name
152155305	CV1560944	single nucleotide variant	NM_003659.4(AGPS):c.873T>G (p.Leu291=)	not provided [RCV002102852]	likely benign	2	177461895	177461895	Human		name
152086704	CV1589833	single nucleotide variant	NM_003659.4(AGPS):c.966G>A (p.Lys322=)	not provided [RCV002193725]	likely benign	2	177461988	177461988	Human		name
152173309	CV1589891	single nucleotide variant	NM_003659.4(AGPS):c.930A>C (p.Val310=)	not provided [RCV002184132]	likely benign	2	177461952	177461952	Human		name
152091582	CV1595915	single nucleotide variant	NM_003659.4(AGPS):c.642C>T (p.Cys214=)	not provided [RCV002077783]	likely benign	2	177440969	177440969	Human		name
152059723	CV1596120	single nucleotide variant	NM_003659.4(AGPS):c.546A>T (p.Arg182=)	not provided [RCV002090107]	likely benign	2	177436868	177436868	Human		name
152112461	CV1604242	single nucleotide variant	NM_003659.4(AGPS):c.537A>G (p.Ala179=)	not provided [RCV002097038]	likely benign	2	177436859	177436859	Human		name
152153034	CV1623336	single nucleotide variant	NM_003659.4(AGPS):c.396C>T (p.Ile132=)	not provided [RCV002221109]	likely benign	2	177434372	177434372	Human		name
152136392	CV1634604	single nucleotide variant	NM_003659.4(AGPS):c.711A>G (p.Gly237=)	not provided [RCV002218773]	likely benign	2	177442408	177442408	Human		name
152075243	CV1635382	single nucleotide variant	NM_003659.4(AGPS):c.534G>A (p.Glu178=)	not provided [RCV002092136]	likely benign	2	177436856	177436856	Human		name
152148167	CV1640167	single nucleotide variant	NM_003659.4(AGPS):c.465A>T (p.Thr155=)	not provided [RCV002157754]	likely benign	2	177436787	177436787	Human		name
152126560	CV1641945	single nucleotide variant	NM_003659.4(AGPS):c.544C>A (p.Arg182=)	not provided [RCV002176250]	likely benign	2	177436866	177436866	Human		name
152124641	CV1646039	single nucleotide variant	NM_003659.4(AGPS):c.342T>C (p.Thr114=)	not provided [RCV002217234]	likely benign	2	177420350	177420350	Human		name
152108997	CV1648406	single nucleotide variant	NM_003659.4(AGPS):c.426T>C (p.His142=)	not provided [RCV002116299]	likely benign	2	177434402	177434402	Human		name
152170443	CV1651090	single nucleotide variant	NM_003659.4(AGPS):c.771T>G (p.Ser257=)	not provided [RCV002143118]	likely benign	2	177442468	177442468	Human		name
152141070	CV1660980	single nucleotide variant	NM_003659.4(AGPS):c.987C>T (p.Ile329=)	not provided [RCV002120379]	likely benign	2	177462009	177462009	Human		name
156172435	CV1881328	single nucleotide variant	NM_003659.4(AGPS):c.477T>A (p.Val159=)	not provided [RCV003083275]	likely benign	2	177436799	177436799	Human		name
156418001	CV1914291	single nucleotide variant	NM_003659.4(AGPS):c.672A>G (p.Leu224=)	not provided [RCV002611173]	likely benign	2	177440999	177440999	Human		name
156406639	CV1917803	single nucleotide variant	NM_003659.4(AGPS):c.591C>T (p.Leu197=)	not provided [RCV002606658]	likely benign	2	177437008	177437008	Human		name
156170114	CV1968268	single nucleotide variant	NM_003659.4(AGPS):c.981C>G (p.Gly327=)	not provided [RCV002594745]	likely benign	2	177462003	177462003	Human		name
156285360	CV2001673	single nucleotide variant	NM_003659.4(AGPS):c.444A>G (p.Ala148=)	not provided [RCV002646988]	likely benign	2	177436766	177436766	Human		name
156226409	CV2006061	single nucleotide variant	NM_003659.4(AGPS):c.954A>G (p.Ala318=)	not provided [RCV002667419]	likely benign	2	177461976	177461976	Human		name
156323969	CV2053954	single nucleotide variant	NM_003659.4(AGPS):c.732C>G (p.Gly244=)	not provided [RCV002810268]	likely benign	2	177442429	177442429	Human		name
156024567	CV2077951	single nucleotide variant	NM_003659.4(AGPS):c.735G>C (p.Leu245=)	not provided [RCV002866770]	likely benign	2	177442432	177442432	Human		name
156232058	CV2085349	single nucleotide variant	NM_003659.4(AGPS):c.897T>G (p.Gly299=)	not provided [RCV002876275]	likely benign	2	177461919	177461919	Human		name
156054081	CV2101882	single nucleotide variant	NM_003659.4(AGPS):c.918G>A (p.Glu306=)	not provided [RCV002886261]	likely benign	2	177461940	177461940	Human		name
156245716	CV2105622	single nucleotide variant	NM_003659.4(AGPS):c.303T>C (p.Ser101=)	not provided [RCV002933365]	likely benign	2	177420311	177420311	Human		name
156060238	CV2155012	single nucleotide variant	NM_003659.4(AGPS):c.615T>A (p.Ile205=)	not provided [RCV003000177]	likely benign	2	177437032	177437032	Human		name
155978867	CV2166889	single nucleotide variant	NM_003659.4(AGPS):c.333T>C (p.Ile111=)	not provided [RCV003033784]	likely benign	2	177420341	177420341	Human		name
156183264	CV2167760	single nucleotide variant	NM_003659.4(AGPS):c.411A>G (p.Gly137=)	not provided [RCV003023894]	likely benign	2	177434387	177434387	Human		name
156354239	CV2190726	single nucleotide variant	NM_003659.4(AGPS):c.420G>A (p.Val140=)	not provided [RCV003048567]	likely benign	2	177434396	177434396	Human		name
156171553	CV2293159	single nucleotide variant	NM_003659.4(AGPS):c.80G>C (p.Arg27Pro)	Inborn genetic diseases [RCV002891432]	uncertain significance	2	177392869	177392869	Human	1	name
11640431	CV273623	single nucleotide variant	NM_003659.4(AGPS):c.891T>C (p.Cys297=)	not provided [RCV000338899]	conflicting interpretations of pathogenicity\|uncertain significance	2	177461913	177461913	Human		name
11580924	CV283016	single nucleotide variant	NM_003659.4(AGPS):c.35G>A (p.Gly12Asp)	Rhizomelic chondrodysplasia punctata type 3 [RCV000348540]\|not provided [RCV000910755]\|not specified [RCV000423931]	benign\|likely benign\|uncertain significance	2	177392824	177392824	Human	1	name , alternate_id
11582160	CV283023	single nucleotide variant	NM_003659.4(AGPS):c.65C>G (p.Ala22Gly)	Inborn genetic diseases [RCV002521338]\|Rhizomelic chondrodysplasia punctata type 3 [RCV000400035]	likely benign\|uncertain significance	2	177392854	177392854	Human	2	name , alternate_id
11635823	CV283053	insertion	NM_003659.4(AGPS):c.1811_1812insAAAA	Rhizomelic chondrodysplasia punctata [RCV000400527]	uncertain significance	2	177540006	177540007	Human	1	name
11588177	CV283057	insertion	NM_003659.4(AGPS):c.1814_1815insAGAA	Rhizomelic chondrodysplasia punctata [RCV000300781]	benign	2	177540007	177540008	Human	1	name
11660189	CV283862	insertion	NM_003659.4(AGPS):c.1863_1864insATGT	Rhizomelic chondrodysplasia punctata [RCV000364930]	uncertain significance	2	177540057	177540058	Human	1	name
11593794	CV285508	single nucleotide variant	NM_003659.4(AGPS):c.83A>T (p.Asp28Val)	Rhizomelic chondrodysplasia punctata type 3 [RCV000352151]\|not provided [RCV002521340]	uncertain significance	2	177392872	177392872	Human	1	name , alternate_id
402516064	CV2855693	single nucleotide variant	NM_003659.4(AGPS):c.573T>C (p.Leu191=)	not provided [RCV003547350]	likely benign	2	177436990	177436990	Human		name
402473720	CV2861119	single nucleotide variant	NM_003659.4(AGPS):c.417T>C (p.Asn139=)	not provided [RCV003542899]	likely benign	2	177434393	177434393	Human		name
402473980	CV2861266	single nucleotide variant	NM_003659.4(AGPS):c.852A>G (p.Gly284=)	not provided [RCV003542972]	likely benign	2	177445608	177445608	Human		name
402489576	CV2861924	single nucleotide variant	NM_003659.4(AGPS):c.474T>A (p.Ser158=)	not provided [RCV003544716]	likely benign	2	177436796	177436796	Human		name
402493417	CV2890427	single nucleotide variant	NM_003659.4(AGPS):c.801C>T (p.Leu267=)	not provided [RCV003573214]	likely benign	2	177445557	177445557	Human		name
405166959	CV2902432	deletion	NM_003659.4(AGPS):c.1286-12_1286-11del	not provided [RCV003562819]	likely benign	2	177497673	177497674	Human		name
405166001	CV2905815	deletion	NM_003659.4(AGPS):c.1697+23_1697+28del	not provided [RCV003562666]	likely benign	2	177513928	177513933	Human		name
405136714	CV2906969	single nucleotide variant	NM_003659.4(AGPS):c.510A>G (p.Glu170=)	not provided [RCV003560467]	likely benign	2	177436832	177436832	Human		name
402467521	CV2910434	single nucleotide variant	NM_003659.4(AGPS):c.516T>C (p.Asn172=)	not provided [RCV003569644]	likely benign	2	177436838	177436838	Human		name
405007465	CV2929541	single nucleotide variant	NM_003659.4(AGPS):c.474T>C (p.Ser158=)	not provided [RCV003576350]	likely benign	2	177436796	177436796	Human		name
402486556	CV2931656	single nucleotide variant	NM_003659.4(AGPS):c.936A>T (p.Gly312=)	not provided [RCV003572510]	likely benign	2	177461958	177461958	Human		name
402507454	CV2944391	single nucleotide variant	NM_003659.4(AGPS):c.480A>G (p.Val160=)	not provided [RCV003662167]	likely benign	2	177436802	177436802	Human		name
402520028	CV2946154	single nucleotide variant	NM_003659.4(AGPS):c.693T>C (p.Cys231=)	not provided [RCV003663155]	likely benign	2	177441020	177441020	Human		name
404982076	CV2982680	single nucleotide variant	NM_003659.4(AGPS):c.564T>C (p.Gly188=)	not provided [RCV003691371]	likely benign	2	177436981	177436981	Human		name
402491133	CV2984599	single nucleotide variant	NM_003659.4(AGPS):c.981C>A (p.Gly327=)	not provided [RCV003713682]	likely benign	2	177462003	177462003	Human		name
405238810	CV2996727	single nucleotide variant	NM_003659.4(AGPS):c.820T>C (p.Leu274=)	not provided [RCV003718670]	likely benign	2	177445576	177445576	Human		name
405007141	CV3010095	single nucleotide variant	NM_003659.4(AGPS):c.735G>T (p.Leu245=)	not provided [RCV003693589]	likely benign	2	177442432	177442432	Human		name
405204216	CV3116853	single nucleotide variant	NM_003659.4(AGPS):c.372T>C (p.Gly124=)	not provided [RCV003822337]	likely benign	2	177434348	177434348	Human		name
405087293	CV3122069	single nucleotide variant	NM_003659.4(AGPS):c.783A>C (p.Ser261=)	not provided [RCV003810824]	likely benign	2	177442480	177442480	Human		name
405016200	CV3139031	single nucleotide variant	NM_003659.4(AGPS):c.867A>G (p.Arg289=)	not provided [RCV003829368]	likely benign	2	177445623	177445623	Human		name
405245011	CV3161587	single nucleotide variant	NM_003659.4(AGPS):c.597A>G (p.Glu199=)	not provided [RCV003868300]	likely benign	2	177437014	177437014	Human		name
405211322	CV3173383	single nucleotide variant	NM_003659.4(AGPS):c.309C>T (p.Phe103=)	not provided [RCV003862132]	likely benign	2	177420317	177420317	Human		name
405252122	CV3177522	single nucleotide variant	NM_003659.4(AGPS):c.345G>A (p.Gly115=)	not provided [RCV003870480]	likely benign	2	177420353	177420353	Human		name
405252513	CV3177987	single nucleotide variant	NM_003659.4(AGPS):c.681A>G (p.Lys227=)	not provided [RCV003870767]	likely benign	2	177441008	177441008	Human		name
402494115	CV3182886	single nucleotide variant	NM_003659.4(AGPS):c.345G>C (p.Gly115=)	not provided [RCV003877194]	likely benign	2	177420353	177420353	Human		name
13518293	CV489942	single nucleotide variant	NM_003659.4(AGPS):c.549A>G (p.Val183=)	not provided [RCV000597230]	conflicting interpretations of pathogenicity\|uncertain significance	2	177436871	177436871	Human		name
15113032	CV719428	single nucleotide variant	NM_003659.4(AGPS):c.435C>G (p.Thr145=)	AGPS-related disorder [RCV003920821]\|not provided [RCV000894585]	likely benign\|conflicting interpretations of pathogenicity	2	177434411	177434411	Human	1	name , trait , alternate_id
15176900	CV732965	single nucleotide variant	NM_003659.4(AGPS):c.921C>T (p.Phe307=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001276318]\|not provided [RCV000906532]	likely benign\|uncertain significance	2	177461943	177461943	Human	1	name , alternate_id
15110527	CV746965	single nucleotide variant	NM_003659.4(AGPS):c.951C>T (p.Arg317=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001825842]\|not provided [RCV000916551]	likely benign	2	177461973	177461973	Human	1	name , alternate_id
28873983	CV881661	single nucleotide variant	NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	Inborn genetic diseases [RCV002556854]\|Rhizomelic chondrodysplasia punctata type 3 [RCV001133139]\|not provided [RCV002556855]	conflicting interpretations of pathogenicity\|uncertain significance	2	177392853	177392853	Human	2	name , alternate_id
28876991	CV881662	single nucleotide variant	NM_003659.4(AGPS):c.774G>A (p.Leu258=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001134614]	uncertain significance	2	177442471	177442471	Human	1	name , alternate_id
40906095	CV977642	single nucleotide variant	NM_003659.4(AGPS):c.40G>T (p.Gly14Cys)	Rhizomelic chondrodysplasia punctata [RCV001279421]	uncertain significance	2	177392829	177392829	Human	1	name
40906101	CV977648	single nucleotide variant	NM_003659.4(AGPS):c.354C>T (p.Tyr118=)	Rhizomelic chondrodysplasia punctata [RCV001279427]\|not provided [RCV001448003]	likely benign\|uncertain significance	2	177434330	177434330	Human	1	name
40906103	CV977650	single nucleotide variant	NM_003659.4(AGPS):c.870G>A (p.Gln290=)	Rhizomelic chondrodysplasia punctata [RCV001279429]\|not provided [RCV001315420]	uncertain significance	2	177445626	177445626	Human	1	name
127260152	CV1068374	single nucleotide variant	NM_003659.4(AGPS):c.1167G>A (p.Lys389=)	not provided [RCV001419988]	likely benign	2	177482120	177482120	Human		name
127272826	CV1068375	single nucleotide variant	NM_003659.4(AGPS):c.1624A>C (p.Arg542=)	not provided [RCV001405813]	likely benign	2	177513835	177513835	Human		name
127240558	CV1068376	single nucleotide variant	NM_003659.4(AGPS):c.1719A>G (p.Ala573=)	not provided [RCV001415576]	likely benign	2	177521290	177521290	Human		name
127250845	CV1068377	single nucleotide variant	NM_003659.4(AGPS):c.1773A>G (p.Pro591=)	not provided [RCV001399959]	likely benign	2	177521344	177521344	Human		name
127273827	CV1068378	single nucleotide variant	NM_003659.4(AGPS):c.1806T>C (p.Ala602=)	not provided [RCV001406172]	likely benign	2	177523756	177523756	Human		name
127251305	CV1068379	single nucleotide variant	NM_003659.4(AGPS):c.1824T>C (p.Ala608=)	not provided [RCV001417754]	likely benign	2	177523774	177523774	Human		name
127258487	CV1068380	single nucleotide variant	NM_003659.4(AGPS):c.1875A>G (p.Gln625=)	not provided [RCV001419560]	likely benign	2	177538093	177538093	Human		name
127254106	CV1068381	single nucleotide variant	NM_003659.4(AGPS):c.1917G>A (p.Leu639=)	not provided [RCV001400737]	likely benign	2	177538135	177538135	Human		name
127269467	CV1090099	single nucleotide variant	NM_003659.4(AGPS):c.1260C>T (p.Leu420=)	not provided [RCV001430285]	likely benign	2	177493174	177493174	Human		name
127277706	CV1090100	single nucleotide variant	NM_003659.4(AGPS):c.1314T>C (p.Ser438=)	not provided [RCV001444582]	likely benign	2	177497717	177497717	Human		name
127241675	CV1090101	single nucleotide variant	NM_003659.4(AGPS):c.1386G>A (p.Gln462=)	not provided [RCV001423600]	likely benign	2	177499641	177499641	Human		name
127239370	CV1090102	single nucleotide variant	NM_003659.4(AGPS):c.1452G>A (p.Val484=)	not provided [RCV001423112]	likely benign	2	177499707	177499707	Human		name
127275247	CV1090103	single nucleotide variant	NM_003659.4(AGPS):c.1779C>A (p.Thr593=)	not provided [RCV001443255]	likely benign	2	177521350	177521350	Human		name
127274473	CV1090104	single nucleotide variant	NM_003659.4(AGPS):c.1935T>C (p.Tyr645=)	not provided [RCV001431967]	likely benign	2	177538153	177538153	Human		name
127298702	CV1111598	single nucleotide variant	NM_003659.4(AGPS):c.1119A>G (p.Val373=)	not provided [RCV001460618]	likely benign	2	177482072	177482072	Human		name
127337034	CV1111599	single nucleotide variant	NM_003659.4(AGPS):c.1140A>G (p.Lys380=)	not provided [RCV001475361]	likely benign	2	177482093	177482093	Human		name
127322035	CV1111600	single nucleotide variant	NM_003659.4(AGPS):c.1170T>C (p.Tyr390=)	not provided [RCV001467436]	likely benign	2	177482123	177482123	Human		name
127336106	CV1111601	single nucleotide variant	NM_003659.4(AGPS):c.1197A>G (p.Glu399=)	not provided [RCV001474764]	likely benign	2	177482150	177482150	Human		name
127299019	CV1111602	single nucleotide variant	NM_003659.4(AGPS):c.1248A>G (p.Ala416=)	not provided [RCV001460689]	likely benign	2	177493162	177493162	Human		name
127297560	CV1111604	single nucleotide variant	NM_003659.4(AGPS):c.1311C>T (p.Ser437=)	not provided [RCV001460275]	likely benign	2	177497714	177497714	Human		name
127328024	CV1111606	single nucleotide variant	NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001803320]\|not provided [RCV001469398]	likely benign	2	177505569	177505569	Human	1	name , alternate_id
127302669	CV1111607	single nucleotide variant	NM_003659.4(AGPS):c.1662G>A (p.Glu554=)	not provided [RCV001461708]	likely benign	2	177513873	177513873	Human		name
127293585	CV1111608	single nucleotide variant	NM_003659.4(AGPS):c.1779C>G (p.Thr593=)	not provided [RCV001476624]	likely benign	2	177521350	177521350	Human		name
127321267	CV1111609	single nucleotide variant	NM_003659.4(AGPS):c.1779C>T (p.Thr593=)	not provided [RCV001467212]	likely benign	2	177521350	177521350	Human		name
127312255	CV1132500	single nucleotide variant	NM_003659.4(AGPS):c.1011A>G (p.Lys337=)	not provided [RCV001501868]	likely benign	2	177468430	177468430	Human		name
127335311	CV1132501	single nucleotide variant	NM_003659.4(AGPS):c.1080C>T (p.Ile360=)	not provided [RCV001491446]	likely benign	2	177468499	177468499	Human		name
127321631	CV1132502	single nucleotide variant	NM_003659.4(AGPS):c.1176A>G (p.Ser392=)	not provided [RCV001504810]	likely benign	2	177482129	177482129	Human		name
127294439	CV1132503	single nucleotide variant	NM_003659.4(AGPS):c.1338A>G (p.Gly446=)	not provided [RCV001496983]	likely benign	2	177497741	177497741	Human		name
127329383	CV1132504	single nucleotide variant	NM_003659.4(AGPS):c.1500T>C (p.Asn500=)	not provided [RCV001487381]	likely benign	2	177505530	177505530	Human		name
127319697	CV1132506	single nucleotide variant	NM_003659.4(AGPS):c.1629T>C (p.Asn543=)	not provided [RCV001483959]	likely benign	2	177513840	177513840	Human		name
127305560	CV1132507	single nucleotide variant	NM_003659.4(AGPS):c.1749T>C (p.Phe583=)	not provided [RCV001479793]	likely benign	2	177521320	177521320	Human		name
127285834	CV1132508	single nucleotide variant	NM_003659.4(AGPS):c.1767T>C (p.Ser589=)	not provided [RCV001493746]	likely benign	2	177521338	177521338	Human		name
127329102	CV1132509	single nucleotide variant	NM_003659.4(AGPS):c.1788A>G (p.Glu596=)	not provided [RCV001487230]	likely benign	2	177521359	177521359	Human		name
127288112	CV1132511	single nucleotide variant	NM_003659.4(AGPS):c.1863G>A (p.Lys621=)	not provided [RCV001495103]	likely benign	2	177538081	177538081	Human		name
127333608	CV1132512	single nucleotide variant	NM_003659.4(AGPS):c.1902C>T (p.Val634=)	not provided [RCV001490288]	likely benign	2	177538120	177538120	Human		name
151831503	CV1379426	single nucleotide variant	NM_003659.4(AGPS):c.166A>G (p.Asn56Asp)	not provided [RCV001935098]	uncertain significance	2	177392955	177392955	Human		name
151730491	CV1420578	single nucleotide variant	NM_003659.4(AGPS):c.115C>T (p.Arg39Trp)	not provided [RCV002041146]	uncertain significance	2	177392904	177392904	Human		name
152108810	CV1520109	single nucleotide variant	NM_003659.4(AGPS):c.1701G>T (p.Val567=)	not provided [RCV002134215]	likely benign	2	177521272	177521272	Human		name
152139601	CV1533596	single nucleotide variant	NM_003659.4(AGPS):c.1884G>A (p.Lys628=)	not provided [RCV002083979]	likely benign	2	177538102	177538102	Human		name
152170946	CV1536761	single nucleotide variant	NM_003659.4(AGPS):c.1068A>G (p.Thr356=)	not provided [RCV002183330]	likely benign	2	177468487	177468487	Human		name
152163198	CV1537649	single nucleotide variant	NM_003659.4(AGPS):c.1405C>T (p.Leu469=)	not provided [RCV002160011]	likely benign	2	177499660	177499660	Human		name
152032703	CV1537859	single nucleotide variant	NM_003659.4(AGPS):c.1872G>A (p.Lys624=)	not provided [RCV002186946]	likely benign	2	177538090	177538090	Human		name
152173441	CV1539458	single nucleotide variant	NM_003659.4(AGPS):c.1812A>G (p.Glu604=)	not provided [RCV002162811]	likely benign	2	177523762	177523762	Human		name
152092489	CV1571197	single nucleotide variant	NM_003659.4(AGPS):c.1293T>C (p.Ala431=)	not provided [RCV002150770]	likely benign	2	177497696	177497696	Human		name
152063500	CV1575183	single nucleotide variant	NM_003659.4(AGPS):c.1491A>C (p.Gly497=)	not provided [RCV002110423]	likely benign	2	177505521	177505521	Human		name
152132216	CV1585043	single nucleotide variant	NM_003659.4(AGPS):c.1755C>T (p.Tyr585=)	not provided [RCV002083017]	likely benign	2	177521326	177521326	Human		name
152086736	CV1599565	single nucleotide variant	NM_003659.4(AGPS):c.1323A>G (p.Thr441=)	not provided [RCV002093589]	likely benign	2	177497726	177497726	Human		name
152047570	CV1619928	single nucleotide variant	NM_003659.4(AGPS):c.1950C>T (p.Asn650=)	not provided [RCV002207101]	likely benign	2	177538168	177538168	Human		name
152122791	CV1641004	single nucleotide variant	NM_003659.4(AGPS):c.1719A>T (p.Ala573=)	not provided [RCV002098392]	likely benign	2	177521290	177521290	Human		name
152108412	CV1643521	single nucleotide variant	NM_003659.4(AGPS):c.1575A>G (p.Gly525=)	not provided [RCV002096508]	likely benign	2	177507999	177507999	Human		name
9681848	CV167558	single nucleotide variant	NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001001533]\|not provided [RCV000948610]\|not specified [RCV000145008]	benign\|likely benign	2	177482126	177482126	Human	1	name , alternate_id
156086956	CV1899034	single nucleotide variant	NM_003659.4(AGPS):c.1617T>C (p.Asp539=)	not provided [RCV003080072]	likely benign	2	177513828	177513828	Human		name
156446521	CV1947867	single nucleotide variant	NM_003659.4(AGPS):c.1746C>G (p.Ala582=)	not provided [RCV003118028]	likely benign	2	177521317	177521317	Human		name
156408371	CV1957815	single nucleotide variant	NM_003659.4(AGPS):c.1764T>C (p.Ile588=)	not provided [RCV002586496]	likely benign	2	177521335	177521335	Human		name
156395925	CV1958944	single nucleotide variant	NM_003659.4(AGPS):c.1347G>A (p.Lys449=)	not provided [RCV002584358]	likely benign	2	177497750	177497750	Human		name
156393109	CV1965112	single nucleotide variant	NM_003659.4(AGPS):c.1647A>G (p.Thr549=)	not provided [RCV002584067]	likely benign	2	177513858	177513858	Human		name
156074090	CV1969068	single nucleotide variant	NM_003659.4(AGPS):c.1224T>C (p.Ile408=)	not provided [RCV002621333]	likely benign	2	177482177	177482177	Human		name
156236374	CV2036602	single nucleotide variant	NM_003659.4(AGPS):c.1851T>C (p.His617=)	not provided [RCV002805513]	likely benign	2	177523801	177523801	Human		name
156284246	CV2050096	single nucleotide variant	NM_003659.4(AGPS):c.160A>T (p.Ser54Cys)	not provided [RCV002807094]	uncertain significance	2	177392949	177392949	Human		name
156348026	CV2052039	single nucleotide variant	NM_003659.4(AGPS):c.208G>A (p.Ala70Thr)	not provided [RCV002811576]	uncertain significance	2	177392997	177392997	Human		name
155935188	CV2057955	single nucleotide variant	NM_003659.4(AGPS):c.1689T>C (p.Ser563=)	not provided [RCV002815318]	likely benign	2	177513900	177513900	Human		name
156355577	CV2062682	single nucleotide variant	NM_003659.4(AGPS):c.1107A>C (p.Gly369=)	not provided [RCV002812103]	likely benign	2	177482060	177482060	Human		name
155944959	CV2072544	single nucleotide variant	NM_003659.4(AGPS):c.1161C>T (p.Tyr387=)	not provided [RCV002862010]	likely benign	2	177482114	177482114	Human		name
155979462	CV2093982	single nucleotide variant	NM_003659.4(AGPS):c.1656C>T (p.Cys552=)	not provided [RCV002881861]	likely benign	2	177513867	177513867	Human		name
156107149	CV2096473	single nucleotide variant	NM_003659.4(AGPS):c.149G>A (p.Arg50Gln)	Inborn genetic diseases [RCV004973701]\|not provided [RCV002913626]	likely benign\|uncertain significance	2	177392938	177392938	Human	1	name
156007478	CV2099830	single nucleotide variant	NM_003659.4(AGPS):c.1050A>G (p.Gln350=)	not provided [RCV002908923]	likely benign	2	177468469	177468469	Human		name
156321749	CV2101070	single nucleotide variant	NM_003659.4(AGPS):c.1839G>A (p.Leu613=)	not provided [RCV002899343]	likely benign	2	177523789	177523789	Human		name
155911905	CV2141739	single nucleotide variant	NM_003659.4(AGPS):c.1638A>G (p.Glu546=)	not provided [RCV002968116]	likely benign	2	177513849	177513849	Human		name
10449798	CV215228	single nucleotide variant	NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)	AGPS-related disorder [RCV004757976]\|Inborn genetic diseases [RCV002515498]\|Rhizomelic chondrodysplasia punctata type 3 [RCV000764289]\|not provided [RCV000676026]\|not specified [RCV000202921]	uncertain significance	2	177393003	177393003	Human	2	name , trait , alternate_id
156016059	CV2154981	single nucleotide variant	NM_003659.4(AGPS):c.1507A>C (p.Arg503=)	not provided [RCV003017997]	likely benign	2	177505537	177505537	Human		name
156127384	CV2155390	single nucleotide variant	NM_003659.4(AGPS):c.1017A>G (p.Val339=)	not provided [RCV003003222]	likely benign	2	177468436	177468436	Human		name
156111382	CV2171692	single nucleotide variant	NM_003659.4(AGPS):c.1527T>C (p.Tyr509=)	not provided [RCV003038959]	likely benign	2	177505557	177505557	Human		name
156206838	CV2179375	single nucleotide variant	NM_003659.4(AGPS):c.1443A>G (p.Glu481=)	not provided [RCV003024656]	likely benign	2	177499698	177499698	Human		name
156019492	CV2230027	single nucleotide variant	NM_003659.4(AGPS):c.239C>T (p.Ser80Leu)	Inborn genetic diseases [RCV002757178]	uncertain significance	2	177393028	177393028	Human	1	name
401738438	CV2711883	single nucleotide variant	NM_003659.4(AGPS):c.194C>T (p.Ser65Leu)	Inborn genetic diseases [RCV003291879]	uncertain significance	2	177392983	177392983	Human	1	name
11641756	CV273666	single nucleotide variant	NM_003659.4(AGPS):c.1380A>C (p.Pro460=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001001321]\|not provided [RCV000973783]\|not specified [RCV000360907]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	177499635	177499635	Human	1	name , alternate_id
401940717	CV2834153	single nucleotide variant	NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)	Rhizomelic chondrodysplasia punctata type 3 [RCV003459981]	likely pathogenic	2	177420296	177420296	Human	1	name , alternate_id
401940730	CV2834208	duplication	NM_003659.4(AGPS):c.301dup (p.Ser101fs)	Rhizomelic chondrodysplasia punctata type 3 [RCV003459994]	likely pathogenic	2	177420307	177420308	Human	1	name , alternate_id
11577538	CV283846	single nucleotide variant	NM_003659.4(AGPS):c.1152C>A (p.Val384=)	Rhizomelic chondrodysplasia punctata type 3 [RCV000262408]\|not provided [RCV000904608]	benign\|likely benign\|uncertain significance	2	177482105	177482105	Human	1	name , alternate_id
402513763	CV2860093	single nucleotide variant	NM_003659.4(AGPS):c.1107A>T (p.Gly369=)	not provided [RCV003575254]	likely benign	2	177482060	177482060	Human		name
402484070	CV2860694	single nucleotide variant	NM_003659.4(AGPS):c.1065A>T (p.Ser355=)	not provided [RCV003544192]	likely benign	2	177468484	177468484	Human		name
405190974	CV2871335	single nucleotide variant	NM_003659.4(AGPS):c.1464T>A (p.Ala488=)	not provided [RCV003550372]	likely benign	2	177499719	177499719	Human		name
405050095	CV2886899	single nucleotide variant	NM_003659.4(AGPS):c.1407G>A (p.Leu469=)	not provided [RCV003579658]	likely benign	2	177499662	177499662	Human		name
405208155	CV2909164	single nucleotide variant	NM_003659.4(AGPS):c.1632A>T (p.Val544=)	not provided [RCV003566751]	likely benign	2	177513843	177513843	Human		name
405206984	CV2913516	single nucleotide variant	NM_003659.4(AGPS):c.1290T>C (p.His430=)	not provided [RCV003566576]	likely benign	2	177497693	177497693	Human		name
405203541	CV2915072	single nucleotide variant	NM_003659.4(AGPS):c.1923T>C (p.Ser641=)	not provided [RCV003566110]	likely benign	2	177538141	177538141	Human		name
405006850	CV2929511	single nucleotide variant	NM_003659.4(AGPS):c.1452G>T (p.Val484=)	not provided [RCV003576329]	likely benign	2	177499707	177499707	Human		name
405041197	CV2930050	single nucleotide variant	NM_003659.4(AGPS):c.1275G>A (p.Gln425=)	not provided [RCV003579067]	likely benign	2	177493189	177493189	Human		name
402469318	CV2930862	single nucleotide variant	NM_003659.4(AGPS):c.1182T>G (p.Ala394=)	not provided [RCV003570037]	likely benign	2	177482135	177482135	Human		name
405075848	CV2937917	single nucleotide variant	NM_003659.4(AGPS):c.1377C>T (p.Asp459=)	not provided [RCV003664208]	likely benign	2	177499632	177499632	Human		name
405089363	CV2943382	single nucleotide variant	NM_003659.4(AGPS):c.1506G>A (p.Gln502=)	not provided [RCV003665093]	likely benign	2	177505536	177505536	Human		name
402500774	CV2943548	single nucleotide variant	NM_003659.4(AGPS):c.1248A>T (p.Ala416=)	not provided [RCV003661525]	likely benign	2	177493162	177493162	Human		name
402492871	CV2945809	single nucleotide variant	NM_003659.4(AGPS):c.1611G>A (p.Val537=)	not provided [RCV003660657]	likely benign	2	177513822	177513822	Human		name
405178309	CV2952110	single nucleotide variant	NM_003659.4(AGPS):c.1704G>T (p.Thr568=)	not provided [RCV003675973]	likely benign	2	177521275	177521275	Human		name
405185346	CV2967564	single nucleotide variant	NM_003659.4(AGPS):c.1107A>G (p.Gly369=)	not provided [RCV003676606]	likely benign	2	177482060	177482060	Human		name
405244779	CV2968295	single nucleotide variant	NM_003659.4(AGPS):c.1599T>C (p.Pro533=)	not provided [RCV003684886]	likely benign	2	177508023	177508023	Human		name
405222274	CV2976258	single nucleotide variant	NM_003659.4(AGPS):c.1419T>C (p.Asp473=)	not provided [RCV003680868]	likely benign	2	177499674	177499674	Human		name
405239983	CV2979880	single nucleotide variant	NM_003659.4(AGPS):c.1341A>G (p.Leu447=)	not provided [RCV003683761]	likely benign	2	177497744	177497744	Human		name
405226492	CV2986459	single nucleotide variant	NM_003659.4(AGPS):c.1692A>T (p.Thr564=)	not provided [RCV003681411]	likely benign	2	177513903	177513903	Human		name
405225629	CV2989520	single nucleotide variant	NM_003659.4(AGPS):c.1896T>G (p.Ser632=)	not provided [RCV003681299]	likely benign	2	177538114	177538114	Human		name
405022317	CV2992824	single nucleotide variant	NM_003659.4(AGPS):c.1158A>G (p.Glu386=)	not provided [RCV003694873]	likely benign	2	177482111	177482111	Human		name
402512760	CV2994820	single nucleotide variant	NM_003659.4(AGPS):c.1551G>A (p.Leu517=)	not provided [RCV003689500]	likely benign	2	177507975	177507975	Human		name
405169940	CV3029100	single nucleotide variant	NM_003659.4(AGPS):c.1020A>G (p.Thr340=)	not provided [RCV003704494]	likely benign	2	177468439	177468439	Human		name
405178013	CV3031105	single nucleotide variant	NM_003659.4(AGPS):c.1497T>C (p.Asp499=)	not provided [RCV003705197]	likely benign	2	177505527	177505527	Human		name
405209616	CV3037319	single nucleotide variant	NM_003659.4(AGPS):c.1125A>G (p.Thr375=)	not provided [RCV003708395]	likely benign	2	177482078	177482078	Human		name
405252699	CV3047426	single nucleotide variant	NM_003659.4(AGPS):c.1134A>C (p.Thr378=)	not provided [RCV003722299]	likely benign	2	177482087	177482087	Human		name
405213371	CV3142670	single nucleotide variant	NM_003659.4(AGPS):c.1071C>A (p.Gly357=)	not provided [RCV003846027]	likely benign	2	177468490	177468490	Human		name
405223393	CV3158341	single nucleotide variant	NM_003659.4(AGPS):c.1455T>C (p.Tyr485=)	not provided [RCV003863837]	likely benign	2	177499710	177499710	Human		name
405196367	CV3168055	single nucleotide variant	NM_003659.4(AGPS):c.1434T>A (p.Leu478=)	not provided [RCV003860187]	likely benign	2	177499689	177499689	Human		name
402480620	CV3170601	single nucleotide variant	NM_003659.4(AGPS):c.1821T>C (p.Leu607=)	not provided [RCV003875803]	likely benign	2	177523771	177523771	Human		name
405761935	CV3250702	single nucleotide variant	NM_003659.4(AGPS):c.146C>T (p.Pro49Leu)	Inborn genetic diseases [RCV004394408]	uncertain significance	2	177392935	177392935	Human	1	name
597628905	CV3674139	single nucleotide variant	NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)	Inborn genetic diseases [RCV004979572]\|Rhizomelic chondrodysplasia punctata type 3 [RCV005023761]	uncertain significance	2	177392916	177392916	Human	2	name , alternate_id
597961099	CV3753167	single nucleotide variant	NM_003659.4(AGPS):c.1401A>G (p.Thr467=)	not provided [RCV005081667]	likely benign	2	177499656	177499656	Human		name
597911193	CV3778228	single nucleotide variant	NM_003659.4(AGPS):c.1224T>A (p.Ile408=)	not provided [RCV005128767]	likely benign	2	177482177	177482177	Human		name
597966474	CV3859118	single nucleotide variant	NM_003659.4(AGPS):c.1758G>A (p.Arg586=)	not provided [RCV005194513]	likely benign	2	177521329	177521329	Human		name
598189823	CV3957419	single nucleotide variant	NM_003659.4(AGPS):c.245C>G (p.Thr82Ser)	Inborn genetic diseases [RCV005334606]	uncertain significance	2	177393034	177393034	Human	1	name
13516360	CV489137	single nucleotide variant	NM_003659.4(AGPS):c.1335C>T (p.Asp445=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001829640]\|not provided [RCV000595433]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	177497738	177497738	Human	1	name , alternate_id
13534193	CV499032	single nucleotide variant	NM_003659.4(AGPS):c.1632A>G (p.Val544=)	not provided [RCV001406522]\|not specified [RCV000607278]	likely benign	2	177513843	177513843	Human		name
13787765	CV549542	single nucleotide variant	NM_003659.4(AGPS):c.1704G>A (p.Thr568=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001132328]\|not provided [RCV000676027]	benign	2	177521275	177521275	Human	1	name , alternate_id
15178916	CV707864	single nucleotide variant	NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	Rhizomelic chondrodysplasia punctata [RCV001276316]\|Rhizomelic chondrodysplasia punctata type 3 [RCV001002207]\|not provided [RCV000973782]	benign\|likely benign\|uncertain significance	2	177392937	177392937	Human	2	name , alternate_id
15152186	CV707865	single nucleotide variant	NM_003659.4(AGPS):c.1086C>T (p.His362=)	AGPS-related disorder [RCV003905945]\|Rhizomelic chondrodysplasia punctata [RCV001276320]\|not provided [RCV000968299]	likely benign\|uncertain significance	2	177468505	177468505	Human	2	name , trait , alternate_id
15202371	CV719429	single nucleotide variant	NM_003659.4(AGPS):c.1536A>T (p.Ala512=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001825797]\|not provided [RCV000891453]	likely benign	2	177505566	177505566	Human	1	name , alternate_id
15108034	CV746966	single nucleotide variant	NM_003659.4(AGPS):c.1029T>C (p.Gly343=)	AGPS-related disorder [RCV003978007]\|Rhizomelic chondrodysplasia punctata type 3 [RCV001276319]\|not provided [RCV000916067]	likely benign\|uncertain significance	2	177468448	177468448	Human	1	name , trait , alternate_id
15152045	CV746967	single nucleotide variant	NM_003659.4(AGPS):c.1569A>G (p.Val523=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001129588]\|not provided [RCV000923796]	likely benign\|uncertain significance	2	177507993	177507993	Human	1	name , alternate_id
15191337	CV762439	single nucleotide variant	NM_003659.4(AGPS):c.1209C>T (p.Ala403=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001826960]\|not provided [RCV000932773]	likely benign	2	177482162	177482162	Human	1	name , alternate_id
15131661	CV762440	single nucleotide variant	NM_003659.4(AGPS):c.1519C>T (p.Leu507=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001129587]\|not provided [RCV000942265]	likely benign\|uncertain significance	2	177505549	177505549	Human	1	name , alternate_id
15144542	CV762441	single nucleotide variant	NM_003659.4(AGPS):c.1713C>T (p.Tyr571=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001276321]\|not provided [RCV000944429]	likely benign\|uncertain significance	2	177521284	177521284	Human	1	name , alternate_id
15142518	CV780976	single nucleotide variant	NM_003659.4(AGPS):c.1908T>C (p.Phe636=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001132329]\|not provided [RCV000983172]	likely benign\|uncertain significance	2	177538126	177538126	Human	1	name , alternate_id
28872501	CV881664	single nucleotide variant	NM_003659.4(AGPS):c.1665G>A (p.Lys555=)	Rhizomelic chondrodysplasia punctata type 3 [RCV001132327]\|not provided [RCV001440144]	likely benign\|uncertain significance	2	177513876	177513876	Human	1	name , alternate_id
40906097	CV977644	single nucleotide variant	NM_003659.4(AGPS):c.197C>T (p.Ala66Val)	Rhizomelic chondrodysplasia punctata [RCV001279423]	uncertain significance	2	177392986	177392986	Human	1	name
40906098	CV977645	single nucleotide variant	NM_003659.4(AGPS):c.200C>T (p.Ala67Val)	Rhizomelic chondrodysplasia punctata [RCV001279424]	uncertain significance	2	177392989	177392989	Human	1	name
40906105	CV977652	single nucleotide variant	NM_003659.4(AGPS):c.1245G>A (p.Pro415=)	Rhizomelic chondrodysplasia punctata [RCV001279431]\|Rhizomelic chondrodysplasia punctata type 3 [RCV002493494]\|not provided [RCV001513987]	benign\|likely benign\|uncertain significance	2	177493159	177493159	Human	2	name , alternate_id
40906107	CV977654	single nucleotide variant	NM_003659.4(AGPS):c.1437A>G (p.Gln479=)	AGPS-related disorder [RCV003938596]\|Rhizomelic chondrodysplasia punctata [RCV001279433]\|not provided [RCV001413971]	likely benign\|uncertain significance	2	177499692	177499692	Human	2	name , trait , alternate_id
40906108	CV977655	single nucleotide variant	NM_003659.4(AGPS):c.1566T>C (p.Tyr522=)	Rhizomelic chondrodysplasia punctata [RCV001279434]\|not provided [RCV001480737]	likely benign\|uncertain significance	2	177507990	177507990	Human	1	name
126748641	CV1023925	single nucleotide variant	NM_003659.4(AGPS):c.895G>A (p.Gly299Ser)	not provided [RCV001337691]	uncertain significance	2	177461917	177461917	Human		name
150426577	CV1186314	deletion	NM_003659.4(AGPS):c.1476-238_1476-235del	not provided [RCV001559752]	likely benign	2	177505266	177505269	Human		name
150448677	CV1275573	deletion	NM_003659.4(AGPS):c.1106-129_1106-120del	not provided [RCV001708028]	benign	2	177481927	177481936	Human		name
151885918	CV1341082	single nucleotide variant	NM_003659.4(AGPS):c.425A>G (p.His142Arg)	not provided [RCV001962650]	uncertain significance	2	177434401	177434401	Human		name
151818415	CV1397461	single nucleotide variant	NM_003659.4(AGPS):c.404C>T (p.Thr135Ile)	not provided [RCV001992527]	uncertain significance	2	177434380	177434380	Human		name
151891972	CV1403358	single nucleotide variant	NM_003659.4(AGPS):c.703A>G (p.Ile235Val)	not provided [RCV001943623]	uncertain significance	2	177441030	177441030	Human		name
151869854	CV1454041	single nucleotide variant	NM_003659.4(AGPS):c.949C>T (p.Arg317Cys)	not provided [RCV001906327]	uncertain significance	2	177461971	177461971	Human		name
155999610	CV1872719	single nucleotide variant	NM_003659.4(AGPS):c.457A>C (p.Ser153Arg)	not provided [RCV003076518]	uncertain significance	2	177436779	177436779	Human		name
155943689	CV1878867	single nucleotide variant	NM_003659.4(AGPS):c.740G>T (p.Cys247Phe)	not provided [RCV003073709]	uncertain significance	2	177442437	177442437	Human		name
156411132	CV1892943	single nucleotide variant	NM_003659.4(AGPS):c.358C>G (p.Leu120Val)	Inborn genetic diseases [RCV004071790]\|not provided [RCV003072347]	uncertain significance	2	177434334	177434334	Human	1	name
156293543	CV1926210	single nucleotide variant	NM_003659.4(AGPS):c.794G>A (p.Arg265Gln)	not provided [RCV002647301]	uncertain significance	2	177445550	177445550	Human		name
8597195	CV21685	single nucleotide variant	NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)	Rhizomelic chondrodysplasia punctata type 3 [RCV000007025]	pathogenic\|likely pathogenic	2	177461948	177461948	Human	1	name , alternate_id
156038068	CV2239636	single nucleotide variant	NM_003659.4(AGPS):c.404C>A (p.Thr135Asn)	Inborn genetic diseases [RCV002758554]	uncertain significance	2	177434380	177434380	Human	1	name
156085177	CV2244596	single nucleotide variant	NM_003659.4(AGPS):c.655G>T (p.Val219Phe)	Inborn genetic diseases [RCV002738143]	uncertain significance	2	177440982	177440982	Human	1	name
156242707	CV2262147	single nucleotide variant	NM_003659.4(AGPS):c.829C>A (p.His277Asn)	Inborn genetic diseases [RCV002830625]	uncertain significance	2	177445585	177445585	Human	1	name
401760770	CV2695154	single nucleotide variant	NM_003659.4(AGPS):c.602T>C (p.Met201Thr)	Inborn genetic diseases [RCV003280626]	uncertain significance	2	177437019	177437019	Human	1	name
401941783	CV2834200	single nucleotide variant	NM_003659.4(AGPS):c.595G>T (p.Glu199Ter)	Rhizomelic chondrodysplasia punctata type 3 [RCV003467841]	likely pathogenic	2	177437012	177437012	Human	1	name , alternate_id
401941802	CV2834225	single nucleotide variant	NM_003659.4(AGPS):c.610C>T (p.Arg204Ter)	Rhizomelic chondrodysplasia punctata type 3 [RCV003467859]	likely pathogenic	2	177437027	177437027	Human	1	name , alternate_id
401941811	CV2834232	duplication	NM_003659.4(AGPS):c.1536dup (p.Tyr513fs)	Rhizomelic chondrodysplasia punctata type 3 [RCV003467863]	likely pathogenic	2	177505565	177505566	Human	1	name , alternate_id
11655196	CV285512	single nucleotide variant	NM_003659.4(AGPS):c.793C>T (p.Arg265Ter)	Rhizomelic chondrodysplasia punctata type 3 [RCV000324114]	uncertain significance	2	177445549	177445549	Human		name , alternate_id
11659546	CV285909	single nucleotide variant	NM_003659.4(AGPS):c.451A>T (p.Asn151Tyr)	Rhizomelic chondrodysplasia punctata type 3 [RCV000358824]	uncertain significance	2	177436773	177436773	Human	1	name , alternate_id
405243624	CV3071947	single nucleotide variant	NM_003659.4(AGPS):c.680A>G (p.Lys227Arg)	not provided [RCV003737842]	uncertain significance	2	177441007	177441007	Human		name
405762123	CV3250731	single nucleotide variant	NM_003659.4(AGPS):c.606T>G (p.Phe202Leu)	Inborn genetic diseases [RCV004394437]	uncertain significance	2	177437023	177437023	Human	1	name
405762230	CV3250748	single nucleotide variant	NM_003659.4(AGPS):c.755C>G (p.Thr252Arg)	Inborn genetic diseases [RCV004394454]	uncertain significance	2	177442452	177442452	Human	1	name
405872806	CV3400182	single nucleotide variant	NM_003659.4(AGPS):c.505A>T (p.Lys169Ter)	Rhizomelic chondrodysplasia punctata type 3 [RCV004575687]	likely pathogenic	2	177436827	177436827	Human	1	name , alternate_id
407480004	CV3442055	single nucleotide variant	NM_003659.4(AGPS):c.787A>C (p.Met263Leu)	Inborn genetic diseases [RCV004617931]	uncertain significance	2	177442484	177442484	Human	1	name
408387606	CV3518905	single nucleotide variant	NM_003659.4(AGPS):c.449T>G (p.Leu150Ter)	not provided [RCV004761224]	uncertain significance	2	177436771	177436771	Human		name
597666773	CV3674145	single nucleotide variant	NM_003659.4(AGPS):c.512C>T (p.Thr171Ile)	Inborn genetic diseases [RCV004979573]	uncertain significance	2	177436834	177436834	Human	1	name
598189738	CV3957408	single nucleotide variant	NM_003659.4(AGPS):c.509A>T (p.Glu170Val)	Inborn genetic diseases [RCV005334595]	uncertain significance	2	177436831	177436831	Human	1	name
598266858	CV3957440	single nucleotide variant	NM_003659.4(AGPS):c.370G>A (p.Gly124Ser)	Inborn genetic diseases [RCV005326738]	uncertain significance	2	177434346	177434346	Human	1	name
38474141	CV922421	single nucleotide variant	NM_003659.4(AGPS):c.544C>T (p.Arg182Ter)	Rhizomelic chondrodysplasia punctata type 3 [RCV003469364]\|not provided [RCV001214616]	pathogenic\|likely pathogenic	2	177436866	177436866	Human	1	name , alternate_id
40906102	CV977649	single nucleotide variant	NM_003659.4(AGPS):c.582A>G (p.Ile194Met)	Rhizomelic chondrodysplasia punctata [RCV001279428]	uncertain significance	2	177436999	177436999	Human	1	name
40906104	CV977651	single nucleotide variant	NM_003659.4(AGPS):c.952G>A (p.Ala318Thr)	Rhizomelic chondrodysplasia punctata [RCV001279430]	uncertain significance	2	177461974	177461974	Human	1	name
126727134	CV988166	single nucleotide variant	NM_003659.4(AGPS):c.712G>A (p.Gly238Arg)	not provided [RCV001303086]	uncertain significance	2	177442409	177442409	Human		name
126732911	CV1019498	single nucleotide variant	NM_003659.4(AGPS):c.1273C>T (p.Gln425Ter)	Rhizomelic chondrodysplasia punctata type 3 [RCV001334160]	pathogenic	2	177493187	177493187	Human		name
150412612	CV1185895	single nucleotide variant	NM_003659.4(AGPS):c.1678G>C (p.Ala560Pro)	Rhizomelic chondrodysplasia punctata type 3 [RCV001559278]	uncertain significance	2	177513889	177513889	Human	1	name , alternate_id
151754261	CV1355787	single nucleotide variant	NM_003659.4(AGPS):c.1229A>G (p.Lys410Arg)	not provided [RCV001986595]	uncertain significance	2	177482182	177482182	Human		name
151851287	CV1386124	single nucleotide variant	NM_003659.4(AGPS):c.1382A>G (p.Asn461Ser)	not provided [RCV001937384]	uncertain significance	2	177499637	177499637	Human		name
151713222	CV1394645	single nucleotide variant	NM_003659.4(AGPS):c.1141A>G (p.Ile381Val)	not provided [RCV001889810]	uncertain significance	2	177482094	177482094	Human		name
151833365	CV1396331	single nucleotide variant	NM_003659.4(AGPS):c.1826A>G (p.Asn609Ser)	not provided [RCV001902030]	uncertain significance	2	177523776	177523776	Human		name
151768079	CV1408074	single nucleotide variant	NM_003659.4(AGPS):c.1350T>G (p.Phe450Leu)	not provided [RCV001914712]	uncertain significance	2	177497753	177497753	Human		name
151882388	CV1484592	single nucleotide variant	NM_003659.4(AGPS):c.1418A>G (p.Asp473Gly)	not provided [RCV001941282]	uncertain significance	2	177499673	177499673	Human		name
151708774	CV1495102	single nucleotide variant	NM_003659.4(AGPS):c.1341A>T (p.Leu447Phe)	not provided [RCV002001516]	uncertain significance	2	177497744	177497744	Human		name
151762901	CV1503111	single nucleotide variant	NM_003659.4(AGPS):c.1238G>A (p.Cys413Tyr)	not provided [RCV001914197]	uncertain significance	2	177493152	177493152	Human		name
156158233	CV1872111	single nucleotide variant	NM_003659.4(AGPS):c.1378C>T (p.Pro460Ser)	Inborn genetic diseases [RCV003056795]\|not provided [RCV003056796]	uncertain significance	2	177499633	177499633	Human	1	name
156303705	CV1916262	single nucleotide variant	NM_003659.4(AGPS):c.1436A>G (p.Gln479Arg)	not provided [RCV002599297]	uncertain significance	2	177499691	177499691	Human		name
155950522	CV1921921	single nucleotide variant	NM_003659.4(AGPS):c.1336G>A (p.Gly446Arg)	not provided [RCV002616198]	uncertain significance	2	177497739	177497739	Human		name
156103060	CV2117318	single nucleotide variant	NM_003659.4(AGPS):c.1768G>C (p.Asp590His)	not provided [RCV002952810]	uncertain significance	2	177521339	177521339	Human		name
156321818	CV2123864	single nucleotide variant	NM_003659.4(AGPS):c.1204G>A (p.Val402Ile)	Inborn genetic diseases [RCV004978420]\|Rhizomelic chondrodysplasia punctata type 3 [RCV005233048]\|not provided [RCV002963257]	likely benign\|uncertain significance	2	177482157	177482157	Human	2	name , alternate_id
156034148	CV2127992	single nucleotide variant	NM_003659.4(AGPS):c.1946A>G (p.Asn649Ser)	Inborn genetic diseases [RCV005333394]\|not provided [RCV002923645]	uncertain significance	2	177538164	177538164	Human	1	name
8597194	CV21684	single nucleotide variant	NM_003659.4(AGPS):c.1256G>A (p.Arg419His)	Rhizomelic chondrodysplasia punctata type 3 [RCV000007024]	pathogenic\|likely pathogenic	2	177493170	177493170	Human	1	name , alternate_id
8597196	CV21686	single nucleotide variant	NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro)	Rhizomelic chondrodysplasia punctata type 3 [RCV000007026]	pathogenic	2	177499661	177499661	Human	1	name , alternate_id
156324892	CV2195061	single nucleotide variant	NM_003659.4(AGPS):c.1605C>A (p.Asp535Glu)	Inborn genetic diseases [RCV002672601]	uncertain significance	2	177508029	177508029	Human	1	name
155979804	CV2222926	single nucleotide variant	NM_003659.4(AGPS):c.1454A>G (p.Tyr485Cys)	Inborn genetic diseases [RCV002732363]	uncertain significance	2	177499709	177499709	Human	1	name
156093140	CV2300198	single nucleotide variant	NM_003659.4(AGPS):c.1762A>C (p.Ile588Leu)	Inborn genetic diseases [RCV002869955]	uncertain significance	2	177521333	177521333	Human	1	name
156059153	CV2316957	single nucleotide variant	NM_003659.4(AGPS):c.1507A>G (p.Arg503Gly)	Inborn genetic diseases [RCV002924937]	uncertain significance	2	177505537	177505537	Human	1	name
401862614	CV2775246	single nucleotide variant	NM_003659.4(AGPS):c.1789C>G (p.Gln597Glu)	Inborn genetic diseases [RCV003343168]	uncertain significance	2	177521360	177521360	Human	1	name
11658732	CV283849	single nucleotide variant	NM_003659.4(AGPS):c.1597C>A (p.Pro533Thr)	Rhizomelic chondrodysplasia punctata type 3 [RCV000351202]	uncertain significance	2	177508021	177508021	Human	1	name , alternate_id
11649585	CV285927	single nucleotide variant	NM_003659.4(AGPS):c.1762A>G (p.Ile588Val)	Rhizomelic chondrodysplasia punctata [RCV000288111]	uncertain significance	2	177521333	177521333	Human	1	name
405203772	CV3144017	insertion	NM_003659.4(AGPS):c.1233+13_1233+14insATA	not provided [RCV003844807]	likely benign	2	177482198	177482199	Human		name
405761966	CV3250707	single nucleotide variant	NM_003659.4(AGPS):c.1645A>G (p.Thr549Ala)	Inborn genetic diseases [RCV004394413]	uncertain significance	2	177513856	177513856	Human	1	name
407480025	CV3442064	single nucleotide variant	NM_003659.4(AGPS):c.1513T>G (p.Tyr505Asp)	Inborn genetic diseases [RCV004617940]	uncertain significance	2	177505543	177505543	Human	1	name
407476751	CV3495000	single nucleotide variant	NM_003659.4(AGPS):c.1712A>C (p.Tyr571Ser)	not specified [RCV004690901]	uncertain significance	2	177521283	177521283	Human		name
597955822	CV3809568	single nucleotide variant	NM_003659.4(AGPS):c.1815A>C (p.Glu605Asp)	not provided [RCV005162293]	uncertain significance	2	177523765	177523765	Human		name
598189912	CV3957430	single nucleotide variant	NM_003659.4(AGPS):c.1327T>A (p.Phe443Ile)	Inborn genetic diseases [RCV005334617]	uncertain significance	2	177497730	177497730	Human	1	name
8602633	CV44138	single nucleotide variant	NM_003659.4(AGPS):c.1703C>T (p.Thr568Met)	Rhizomelic chondrodysplasia punctata type 3 [RCV000029144]	pathogenic	2	177521274	177521274	Human	1	name , alternate_id
21405604	CV799243	single nucleotide variant	NM_003659.4(AGPS):c.1135A>G (p.Ile379Val)	Rhizomelic chondrodysplasia punctata type 3 [RCV001000842]	uncertain significance	2	177482088	177482088	Human	1	name , alternate_id
28867938	CV881663	single nucleotide variant	NM_003659.4(AGPS):c.1244C>T (p.Pro415Leu)	Inborn genetic diseases [RCV003259112]\|Rhizomelic chondrodysplasia punctata type 3 [RCV001129585]\|not provided [RCV002556824]	uncertain significance	2	177493158	177493158	Human	2	name , alternate_id
40906106	CV977653	single nucleotide variant	NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly)	Rhizomelic chondrodysplasia punctata [RCV001279432]	uncertain significance	2	177499631	177499631	Human	1	name
40906109	CV977656	single nucleotide variant	NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro)	Rhizomelic chondrodysplasia punctata [RCV001279435]	uncertain significance	2	177538092	177538092	Human	1	name
401941821	CV2834238	deletion	NM_003659.4(AGPS):c.918_919del (p.Glu306fs)	Rhizomelic chondrodysplasia punctata type 3 [RCV003467868]	likely pathogenic	2	177461940	177461941	Human	1	name , alternate_id
11653914	CV285509	microsatellite	NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3])	Rhizomelic chondrodysplasia punctata [RCV000313816]\|not provided [RCV002521339]	uncertain significance	2	177392869	177392870	Human		name
14745980	CV658406	insertion	NM_003659.4(AGPS):c.1234-232_1234-231insAAA	not provided [RCV000843955]	benign	2	177492916	177492917	Human		name
405872848	CV3400186	indel	NM_003659.4(AGPS):c.580delinsCC (p.Ile194fs)	Rhizomelic chondrodysplasia punctata type 3 [RCV004575691]	likely pathogenic	2	177436997	177436997	Human		name , alternate_id
127234441	CV1108861	deletion	NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs)	Rhizomelic chondrodysplasia punctata type 3 [RCV001449736]	likely pathogenic	2	177468454	177468460	Human	1	name , alternate_id
329952202	CV2668908	deletion	NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)	Rhizomelic chondrodysplasia punctata [RCV003230992]	likely pathogenic	2	177513868	177513869	Human	1	name
401940722	CV2834170	deletion	NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs)	Rhizomelic chondrodysplasia punctata type 3 [RCV003459986]	likely pathogenic	2	177507980	177507987	Human	1	name , alternate_id
156318424	CV2140539	indel	NM_003659.4(AGPS):c.64_65delinsAG (p.Ala22Arg)	Inborn genetic diseases [RCV003011536]\|not provided [RCV003011535]	uncertain significance	2	177392853	177392854	Human		name
151724920	CV1437171	duplication	NM_003659.4(AGPS):c.49_54dup (p.Ala17_Ser18dup)	not provided [RCV002004145]\|not specified [RCV002266089]	uncertain significance	2	177392835	177392836	Human		name
156262915	CV2138762	insertion	NM_003659.4(AGPS):c.97_98insCGGGCC (p.Asp32_Arg33insProGly)	not provided [RCV002988532]	uncertain significance	2	177392884	177392885	Human		name

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