Gnpat Variant Search Result - Rat Genome Database

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538 records found for search term Gnpat

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11594398	CV279456	single nucleotide variant	NM_014236.4(GNPAT):c.-6C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV000359065]	uncertain significance	1	231241373	231241373	Human	1	name , alternate_id
11598445	CV279760	single nucleotide variant	NM_014236.4(GNPAT):c.*2A>C	Rhizomelic chondrodysplasia punctata type 2 [RCV000405592]	uncertain significance	1	231277544	231277544	Human	1	name , alternate_id
11659208	CV279732	single nucleotide variant	NM_014236.4(GNPAT):c.-54A>G	Rhizomelic chondrodysplasia punctata type 2 [RCV000355708]	uncertain significance	1	231241325	231241325	Human	1	name , alternate_id
11590614	CV279735	single nucleotide variant	NM_014236.4(GNPAT):c.-44C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV000320754]\|not provided [RCV004713632]\|not specified [RCV000427651]	benign	1	231241335	231241335	Human	1	name , alternate_id
11587912	CV281012	single nucleotide variant	NM_014236.4(GNPAT):c.-84C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV000298576]\|not provided [RCV000835407]	benign\|likely benign	1	231241295	231241295	Human	1	name , alternate_id
11582954	CV281013	single nucleotide variant	NM_014236.4(GNPAT):c.-47C>A	Rhizomelic chondrodysplasia punctata type 2 [RCV000263211]\|not provided [RCV004691196]	uncertain significance	1	231241332	231241332	Human	1	name , alternate_id
14399929	CV613605	single nucleotide variant	NM_014236.4(GNPAT):c.-47C>T	not provided [RCV000767302]	not provided	1	231241332	231241332	Human		name
28896427	CV863861	single nucleotide variant	NM_014236.4(GNPAT):c.-82G>T	Rhizomelic chondrodysplasia punctata type 2 [RCV001102202]	uncertain significance	1	231241297	231241297	Human	1	name , alternate_id
28887001	CV863870	single nucleotide variant	NM_014236.4(GNPAT):c.*18T>C	Rhizomelic chondrodysplasia punctata type 2 [RCV001098641]\|not provided [RCV001557236]	benign\|likely benign	1	231277560	231277560	Human	1	name , alternate_id
28887006	CV863871	single nucleotide variant	NM_014236.4(GNPAT):c.*45C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV001098642]	uncertain significance	1	231277587	231277587	Human	1	name , alternate_id
152113309	CV1623850	single nucleotide variant	NM_014236.4(GNPAT):c.79-8A>T	not provided [RCV002134769]	likely benign	1	231250953	231250953	Human		name
156393719	CV1876214	single nucleotide variant	NM_014236.4(GNPAT):c.78+8C>T	not provided [RCV003068330]	likely benign	1	231241464	231241464	Human		name
156322648	CV2053840	single nucleotide variant	NM_014236.4(GNPAT):c.79-7T>C	not provided [RCV002810183]	likely benign	1	231250954	231250954	Human		name
11598376	CV279455	single nucleotide variant	NM_014236.4(GNPAT):c.-121C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV000404756]	uncertain significance	1	231241258	231241258	Human	1	name , alternate_id
11595043	CV279492	single nucleotide variant	NM_014236.4(GNPAT):c.*195C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV000365870]	uncertain significance	1	231277737	231277737	Human	1	name , alternate_id
11589998	CV281000	single nucleotide variant	NM_014236.4(GNPAT):c.-147G>C	Rhizomelic chondrodysplasia punctata type 2 [RCV000314897]	uncertain significance	1	231241232	231241232	Human	1	name , alternate_id
11595359	CV281161	single nucleotide variant	NM_014236.4(GNPAT):c.-145G>A	Rhizomelic chondrodysplasia punctata type 2 [RCV000369622]\|not provided [RCV001575157]	benign\|likely benign\|uncertain significance	1	231241234	231241234	Human	1	name , alternate_id
11589233	CV281171	single nucleotide variant	NM_014236.4(GNPAT):c.*123A>G	Rhizomelic chondrodysplasia punctata [RCV000308897]	uncertain significance	1	231277665	231277665	Human	1	name
11646942	CV281173	single nucleotide variant	NM_014236.4(GNPAT):c.*389G>A	Rhizomelic chondrodysplasia punctata type 2 [RCV000273735]	uncertain significance	1	231277931	231277931	Human	1	name , alternate_id
405144888	CV2955281	single nucleotide variant	NM_014236.4(GNPAT):c.79-6C>T	not provided [RCV003673550]	likely benign	1	231250955	231250955	Human		name
402478476	CV3032990	single nucleotide variant	NM_014236.4(GNPAT):c.78+7G>A	not provided [RCV003712569]	likely benign	1	231241463	231241463	Human		name
28891527	CV863860	single nucleotide variant	NM_014236.4(GNPAT):c.-153A>C	Rhizomelic chondrodysplasia punctata type 2 [RCV001100218]	uncertain significance	1	231241226	231241226	Human	1	name , alternate_id
28887010	CV863872	single nucleotide variant	NM_014236.4(GNPAT):c.*129C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV001098643]	uncertain significance	1	231277671	231277671	Human	1	name , alternate_id
28892105	CV863873	single nucleotide variant	NM_014236.4(GNPAT):c.*338A>G	Rhizomelic chondrodysplasia punctata type 2 [RCV001100435]	uncertain significance	1	231277880	231277880	Human	1	name , alternate_id
28892109	CV863874	single nucleotide variant	NM_014236.4(GNPAT):c.*399G>C	Rhizomelic chondrodysplasia punctata type 2 [RCV001100436]	uncertain significance	1	231277941	231277941	Human	1	name , alternate_id
126735002	CV1019323	single nucleotide variant	NM_014236.4(GNPAT):c.697-2A>G	not provided [RCV003720067]	pathogenic\|likely pathogenic	1	231265710	231265710	Human		name
127249952	CV1054813	single nucleotide variant	NM_014236.4(GNPAT):c.773-2A>G	not provided [RCV001378261]	likely pathogenic	1	231266012	231266012	Human		name
127329446	CV1110239	single nucleotide variant	NM_014236.4(GNPAT):c.438+8T>C	not provided [RCV001470221]	likely benign	1	231260691	231260691	Human		name
150459255	CV1236070	single nucleotide variant	NM_014236.4(GNPAT):c.79-95T>A	not provided [RCV001649041]	benign	1	231250866	231250866	Human		name
151727679	CV1241984	single nucleotide variant	NM_014236.4(GNPAT):c.569-3T>G	Rhizomelic chondrodysplasia punctata type 2 [RCV001844353]	pathogenic\|conflicting interpretations of pathogenicity	1	231265290	231265290	Human	1	name , alternate_id
150544695	CV1296908	single nucleotide variant	NM_014236.4(GNPAT):c.924+3A>G	not provided [RCV001774198]	uncertain significance	1	231266168	231266168	Human		name
151829188	CV1462370	single nucleotide variant	NM_014236.4(GNPAT):c.569-3T>C	not provided [RCV001993540]	uncertain significance	1	231265290	231265290	Human		name
405157240	CV2897930	deletion	NM_014236.4(GNPAT):c.925-3del	not provided [RCV003562143]	likely benign	1	231266273	231266273	Human		name
405242247	CV2898717	single nucleotide variant	NM_014236.4(GNPAT):c.439-8C>T	not provided [RCV003557639]	likely benign	1	231262715	231262715	Human		name
405169643	CV2911843	single nucleotide variant	NM_014236.4(GNPAT):c.924+1G>T	not provided [RCV003563016]	pathogenic	1	231266166	231266166	Human		name
405217063	CV2978088	single nucleotide variant	NM_014236.4(GNPAT):c.439-4C>G	not provided [RCV003709396]	likely benign	1	231262719	231262719	Human		name
405224643	CV2979417	single nucleotide variant	NM_014236.4(GNPAT):c.78+14G>A	not provided [RCV003681215]	likely benign	1	231241470	231241470	Human		name
405248446	CV2986928	single nucleotide variant	NM_014236.4(GNPAT):c.696+1G>A	not provided [RCV003685975]	likely pathogenic	1	231265421	231265421	Human		name
402479130	CV2990392	single nucleotide variant	NM_014236.4(GNPAT):c.569-7T>G	not provided [RCV003686411]	likely benign	1	231265286	231265286	Human		name
405016977	CV2991723	single nucleotide variant	NM_014236.4(GNPAT):c.261+7G>C	not provided [RCV003694496]	likely benign	1	231251150	231251150	Human		name
402501116	CV3010511	single nucleotide variant	NM_014236.4(GNPAT):c.696+2T>C	not provided [RCV003688502]	likely pathogenic	1	231265422	231265422	Human		name
405170416	CV3025733	single nucleotide variant	NM_014236.4(GNPAT):c.439-1G>A	not provided [RCV003704637]	likely pathogenic	1	231262722	231262722	Human		name
405236686	CV3076734	duplication	NM_014236.4(GNPAT):c.78+10dup	not provided [RCV003736022]	likely benign	1	231241463	231241464	Human		name
405173192	CV3122910	single nucleotide variant	NM_014236.4(GNPAT):c.925-6T>C	not provided [RCV003819308]	likely benign	1	231266271	231266271	Human		name
405200067	CV3128882	single nucleotide variant	NM_014236.4(GNPAT):c.78+19G>A	not provided [RCV003821925]	likely benign	1	231241475	231241475	Human		name
405033689	CV3130409	single nucleotide variant	NM_014236.4(GNPAT):c.925-5A>G	not provided [RCV003830816]	likely benign	1	231266272	231266272	Human		name
597758582	CV3715577	deletion	NM_014236.4(GNPAT):c.925-2del	Rhizomelic chondrodysplasia punctata type 2 [RCV005017839]	likely pathogenic	1	231266275	231266275	Human	1	name , alternate_id
597932427	CV3776487	single nucleotide variant	NM_014236.4(GNPAT):c.78+11A>G	not provided [RCV005116862]	likely benign	1	231241467	231241467	Human		name
15129342	CV778779	single nucleotide variant	NM_014236.4(GNPAT):c.262-7C>T	not provided [RCV000964243]	likely benign	1	231260500	231260500	Human		name
28886735	CV865135	single nucleotide variant	NM_014236.4(GNPAT):c.924+4C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV001098554]	uncertain significance	1	231266169	231266169	Human	1	name , alternate_id
150334879	CV1170689	single nucleotide variant	NM_014236.4(GNPAT):c.79-237A>G	not provided [RCV001540289]	likely benign	1	231250724	231250724	Human		name
150414719	CV1175857	single nucleotide variant	NM_014236.4(GNPAT):c.925-21C>T	not provided [RCV001548258]	likely benign	1	231266256	231266256	Human		name
150427623	CV1186146	single nucleotide variant	NM_014236.4(GNPAT):c.78+225C>T	not provided [RCV001561171]	likely benign	1	231241681	231241681	Human		name
150432076	CV1200526	single nucleotide variant	NM_014236.4(GNPAT):c.262-41A>G	not provided [RCV001581249]	likely benign	1	231260466	231260466	Human		name
150437957	CV1201337	single nucleotide variant	NM_014236.4(GNPAT):c.79-109A>G	not provided [RCV001583149]	likely benign	1	231250852	231250852	Human		name
150458165	CV1237177	single nucleotide variant	NM_014236.4(GNPAT):c.772+63T>C	not provided [RCV001648856]	benign	1	231265850	231265850	Human		name
150437400	CV1237862	single nucleotide variant	NM_014236.4(GNPAT):c.261+84T>C	not provided [RCV001644360]	benign	1	231251227	231251227	Human		name
150439429	CV1247718	single nucleotide variant	NM_014236.4(GNPAT):c.696+38T>C	not provided [RCV001666085]	benign	1	231265458	231265458	Human		name
151793652	CV1420476	single nucleotide variant	NM_014236.4(GNPAT):c.1279+3A>G	not provided [RCV002027450]	uncertain significance	1	231267906	231267906	Human		name
151787777	CV1479160	single nucleotide variant	NM_014236.4(GNPAT):c.1522+2T>G	not provided [RCV002046799]	likely pathogenic	1	231271002	231271002	Human		name
152095443	CV1521141	single nucleotide variant	NM_014236.4(GNPAT):c.261+11C>A	not provided [RCV002078280]	likely benign	1	231251154	231251154	Human		name
152042807	CV1603543	single nucleotide variant	NM_014236.4(GNPAT):c.925-19C>G	not provided [RCV002071235]	likely benign	1	231266258	231266258	Human		name
152105315	CV1622871	single nucleotide variant	NM_014236.4(GNPAT):c.1603-8C>T	not provided [RCV002214727]	likely benign	1	231273914	231273914	Human		name
152084839	CV1622960	single nucleotide variant	NM_014236.4(GNPAT):c.925-18C>T	not provided [RCV002113243]	likely benign	1	231266259	231266259	Human		name
152043098	CV1624354	single nucleotide variant	NM_014236.4(GNPAT):c.1280-6G>A	not provided [RCV002126343]	likely benign	1	231270752	231270752	Human		name
152104845	CV1633888	deletion	NM_014236.4(GNPAT):c.1844-3del	not provided [RCV002196016]	benign	1	231275399	231275399	Human		name
156291452	CV1881874	single nucleotide variant	NM_014236.4(GNPAT):c.925-19C>T	not provided [RCV003061477]	likely benign	1	231266258	231266258	Human		name
156373464	CV1953530	single nucleotide variant	NM_014236.4(GNPAT):c.1603-1G>C	not provided [RCV002582608]	likely pathogenic	1	231273921	231273921	Human		name
10403693	CV206770	deletion	NM_014236.4(GNPAT):c.569-11del	Rhizomelic chondrodysplasia punctata type 2 [RCV001000248]\|not provided [RCV000676049]\|not specified [RCV000193168]	benign\|likely benign\|uncertain significance	1	231265279	231265279	Human	1	name , alternate_id
156073844	CV2086398	single nucleotide variant	NM_014236.4(GNPAT):c.261+19A>C	not provided [RCV002847158]	likely benign	1	231251162	231251162	Human		name
156393931	CV2120687	single nucleotide variant	NM_014236.4(GNPAT):c.1937+9T>A	GNPAT-related disorder [RCV003926623]\|Rhizomelic chondrodysplasia punctata type 2 [RCV005233046]\|not provided [RCV002944212]	likely benign	1	231275507	231275507	Human	1	name , trait , alternate_id
11580225	CV279474	single nucleotide variant	NM_014236.4(GNPAT):c.1280-8G>A	Rhizomelic chondrodysplasia punctata type 2 [RCV000326665]\|not provided [RCV003765731]	likely benign\|uncertain significance	1	231270750	231270750	Human	1	name , alternate_id
401941392	CV2836045	single nucleotide variant	NM_014236.4(GNPAT):c.1279+1G>T	Rhizomelic chondrodysplasia punctata type 2 [RCV003461709]	likely pathogenic	1	231267904	231267904	Human	1	name , alternate_id
401942961	CV2836060	single nucleotide variant	NM_014236.4(GNPAT):c.1743+1G>T	Rhizomelic chondrodysplasia punctata type 2 [RCV003468297]	likely pathogenic	1	231274063	231274063	Human	1	name , alternate_id
402515139	CV2855669	single nucleotide variant	NM_014236.4(GNPAT):c.261+13C>G	not provided [RCV003547340]	likely benign	1	231251156	231251156	Human		name
405025078	CV2889645	single nucleotide variant	NM_014236.4(GNPAT):c.261+16T>C	not provided [RCV003577916]	likely benign	1	231251159	231251159	Human		name
405156770	CV2890899	single nucleotide variant	NM_014236.4(GNPAT):c.925-12T>C	not provided [RCV003562111]	likely benign	1	231266265	231266265	Human		name
405227006	CV2892407	single nucleotide variant	NM_014236.4(GNPAT):c.1603-4C>T	not provided [RCV003554731]	likely benign	1	231273918	231273918	Human		name
405219036	CV2903821	deletion	NM_014236.4(GNPAT):c.924+18del	not provided [RCV003568132]	benign	1	231266180	231266180	Human		name
405208847	CV2909976	single nucleotide variant	NM_014236.4(GNPAT):c.568+18G>A	not provided [RCV003566868]	likely benign	1	231262870	231262870	Human		name
402467577	CV2910547	single nucleotide variant	NM_014236.4(GNPAT):c.1603-6T>G	not provided [RCV003569705]	likely benign	1	231273916	231273916	Human		name
402468161	CV2921194	single nucleotide variant	NM_014236.4(GNPAT):c.262-17T>G	not provided [RCV003569841]	likely benign	1	231260490	231260490	Human		name
405031948	CV2922532	single nucleotide variant	NM_014236.4(GNPAT):c.1844-4T>G	not provided [RCV003578426]	likely benign	1	231275401	231275401	Human		name
402503075	CV2937724	duplication	NM_014236.4(GNPAT):c.438+23dup	not provided [RCV003661786]	benign	1	231260699	231260700	Human		name
402484647	CV2944912	single nucleotide variant	NM_014236.4(GNPAT):c.1056-8C>G	not provided [RCV003659959]	likely benign	1	231267672	231267672	Human		name
405176349	CV2951935	single nucleotide variant	NM_014236.4(GNPAT):c.438+17A>T	not provided [RCV003675863]	likely benign	1	231260700	231260700	Human		name
405194691	CV2985888	single nucleotide variant	NM_014236.4(GNPAT):c.925-20C>G	not provided [RCV003706721]	likely benign	1	231266257	231266257	Human		name
405119631	CV2993887	single nucleotide variant	NM_014236.4(GNPAT):c.569-10T>C	not provided [RCV003723743]	likely benign	1	231265283	231265283	Human		name
402518494	CV3002259	single nucleotide variant	NM_014236.4(GNPAT):c.925-14T>G	not provided [RCV003690110]	likely benign	1	231266263	231266263	Human		name
402518357	CV3003436	single nucleotide variant	NM_014236.4(GNPAT):c.2000-5C>G	not provided [RCV003716243]	likely benign	1	231277494	231277494	Human		name
402492840	CV3008243	single nucleotide variant	NM_014236.4(GNPAT):c.569-17T>C	not provided [RCV003687635]	likely benign	1	231265276	231265276	Human		name
405028882	CV3015686	single nucleotide variant	NM_014236.4(GNPAT):c.2000-4T>A	not provided [RCV003695415]	likely benign	1	231277495	231277495	Human		name
405117789	CV3030330	single nucleotide variant	NM_014236.4(GNPAT):c.261+12C>T	not provided [RCV003700423]	likely benign	1	231251155	231251155	Human		name
405151497	CV3031420	single nucleotide variant	NM_014236.4(GNPAT):c.773-11G>A	not provided [RCV003703327]	likely benign	1	231266003	231266003	Human		name
402479541	CV3033188	single nucleotide variant	NM_014236.4(GNPAT):c.261+11C>T	not provided [RCV003712685]	likely benign	1	231251154	231251154	Human		name
405205320	CV3033695	single nucleotide variant	NM_014236.4(GNPAT):c.262-17T>C	not provided [RCV003707929]	likely benign	1	231260490	231260490	Human		name
402503539	CV3035555	duplication	NM_014236.4(GNPAT):c.568+25dup	not provided [RCV003714832]	benign	1	231262870	231262871	Human		name
405176640	CV3049342	single nucleotide variant	NM_014236.4(GNPAT):c.2000-8C>T	not provided [RCV003728334]	likely benign	1	231277491	231277491	Human		name
405079781	CV3050372	single nucleotide variant	NM_014236.4(GNPAT):c.697-19G>T	not provided [RCV003717051]	likely benign	1	231265693	231265693	Human		name
405239979	CV3064199	single nucleotide variant	NM_014236.4(GNPAT):c.772+13A>G	not provided [RCV003737040]	likely benign	1	231265800	231265800	Human		name
405039981	CV3067752	deletion	NM_014236.4(GNPAT):c.568+25del	not provided [RCV003739746]	benign	1	231262871	231262871	Human		name
405047278	CV3071571	single nucleotide variant	NM_014236.4(GNPAT):c.697-10C>T	not provided [RCV003740268]	likely benign	1	231265702	231265702	Human		name
405046211	CV3071572	single nucleotide variant	NM_014236.4(GNPAT):c.772+11A>C	not provided [RCV003740269]	likely benign	1	231265798	231265798	Human		name
405237320	CV3080940	single nucleotide variant	NM_014236.4(GNPAT):c.569-16A>G	not provided [RCV003736138]	likely benign	1	231265277	231265277	Human		name
405120364	CV3131411	single nucleotide variant	NM_014236.4(GNPAT):c.925-18C>A	not provided [RCV003837275]	likely benign	1	231266259	231266259	Human		name
405232526	CV3157596	single nucleotide variant	NM_014236.4(GNPAT):c.925-18C>G	not provided [RCV003865546]	likely benign	1	231266259	231266259	Human		name
402487893	CV3181961	single nucleotide variant	NM_014236.4(GNPAT):c.1843+9C>T	not provided [RCV003876630]	likely benign	1	231275329	231275329	Human		name
597758658	CV3715604	single nucleotide variant	NM_014236.4(GNPAT):c.1603-3T>G	Rhizomelic chondrodysplasia punctata type 2 [RCV005017854]	uncertain significance	1	231273919	231273919	Human	1	name , alternate_id
597957310	CV3814322	single nucleotide variant	NM_014236.4(GNPAT):c.773-15C>T	not provided [RCV005162653]	likely benign	1	231265999	231265999	Human		name
8569082	CV44135	single nucleotide variant	NM_014236.4(GNPAT):c.1280-3T>G	Rhizomelic chondrodysplasia punctata type 2 [RCV000029141]\|not provided [RCV003556087]	pathogenic\|likely pathogenic	1	231270755	231270755	Human	1	name , alternate_id
8569084	CV44137	single nucleotide variant	NM_014236.4(GNPAT):c.1937+5G>A	Rhizomelic chondrodysplasia punctata type 2 [RCV000029143]	pathogenic	1	231275503	231275503	Human	1	name , alternate_id
13533962	CV498398	single nucleotide variant	NM_014236.4(GNPAT):c.924+14A>G	not provided [RCV003546571]\|not specified [RCV000601799]	likely benign	1	231266179	231266179	Human		name
13537894	CV498407	single nucleotide variant	NM_014236.4(GNPAT):c.925-16G>A	Rhizomelic chondrodysplasia punctata type 2 [RCV001285191]\|not provided [RCV000676051]\|not specified [RCV000611040]	benign\|likely benign	1	231266261	231266261	Human	1	name , alternate_id
13525918	CV498463	deletion	NM_014236.4(GNPAT):c.925-17del	Rhizomelic chondrodysplasia punctata type 2 [RCV001286393]\|not provided [RCV002066710]\|not specified [RCV000603541]	benign	1	231266260	231266260	Human	1	name , alternate_id
14708064	CV650613	single nucleotide variant	NM_014236.4(GNPAT):c.1938-5C>G	not provided [RCV000808685]	uncertain significance	1	231276130	231276130	Human		name
15149493	CV758949	single nucleotide variant	NM_014236.4(GNPAT):c.1056-5T>C	not provided [RCV000923296]	likely benign	1	231267675	231267675	Human		name
150407140	CV1189575	single nucleotide variant	NM_014236.4(GNPAT):c.262-244T>A	not provided [RCV001564926]	likely benign	1	231260263	231260263	Human		name
150417677	CV1196568	single nucleotide variant	NM_014236.4(GNPAT):c.261+249C>G	not provided [RCV001576404]	likely benign	1	231251392	231251392	Human		name
150456604	CV1202517	single nucleotide variant	NM_014236.4(GNPAT):c.696+135T>C	not provided [RCV001586170]	likely benign	1	231265555	231265555	Human		name
151776354	CV1449901	single nucleotide variant	NM_014236.4(GNPAT):c.1743+17A>G	not provided [RCV001864553]	likely benign\|uncertain significance	1	231274079	231274079	Human		name
152106681	CV1577685	single nucleotide variant	NM_014236.4(GNPAT):c.1523-10T>G	not provided [RCV002096267]	likely benign	1	231272302	231272302	Human		name
152074465	CV1620402	duplication	NM_014236.4(GNPAT):c.1999+20dup	not provided [RCV002111907]	benign	1	231276212	231276213	Human		name
152079982	CV1620640	single nucleotide variant	NM_014236.4(GNPAT):c.1522+19A>G	not provided [RCV002112614]	likely benign	1	231271019	231271019	Human		name
156129552	CV1921609	single nucleotide variant	NM_014236.4(GNPAT):c.2000-15C>T	not provided [RCV002623258]	likely benign	1	231277484	231277484	Human		name
156253579	CV1967315	single nucleotide variant	NM_014236.4(GNPAT):c.1055+17A>T	not provided [RCV002597550]	likely benign	1	231266424	231266424	Human		name
156388670	CV1989907	single nucleotide variant	NM_014236.4(GNPAT):c.1999+11T>C	not provided [RCV002604478]	likely benign	1	231276207	231276207	Human		name
156012186	CV2042030	duplication	NM_014236.4(GNPAT):c.1938-16dup	not provided [RCV002780203]	likely benign	1	231276117	231276118	Human		name
156000235	CV2074577	single nucleotide variant	NM_014236.4(GNPAT):c.1744-11C>G	not provided [RCV002843370]	likely benign	1	231275210	231275210	Human		name
155961621	CV2089083	single nucleotide variant	NM_014236.4(GNPAT):c.1056-11C>A	not provided [RCV002881048]	likely benign	1	231267669	231267669	Human		name
155938727	CV2135234	single nucleotide variant	NM_014236.4(GNPAT):c.1280-16T>C	not provided [RCV002993909]	likely benign	1	231270742	231270742	Human		name
11580658	CV281059	single nucleotide variant	NM_014236.4(GNPAT):c.1744-13C>T	Rhizomelic chondrodysplasia punctata type 2 [RCV000340099]\|not provided [RCV002059456]	likely benign\|uncertain significance	1	231275208	231275208	Human	1	name , alternate_id
11578388	CV281169	single nucleotide variant	NM_014236.4(GNPAT):c.1522+15T>C	Rhizomelic chondrodysplasia punctata [RCV000280211]\|not provided [RCV003718154]	likely benign\|uncertain significance	1	231271015	231271015	Human	1	name
405047817	CV2856380	single nucleotide variant	NM_014236.4(GNPAT):c.1603-14C>G	not provided [RCV003579575]	likely benign	1	231273908	231273908	Human		name
405041569	CV2862636	single nucleotide variant	NM_014236.4(GNPAT):c.1602+12A>T	not provided [RCV003579087]	likely benign	1	231272403	231272403	Human		name
405172261	CV2864430	single nucleotide variant	NM_014236.4(GNPAT):c.1999+19A>G	not provided [RCV003542259]	likely benign	1	231276215	231276215	Human		name
405218007	CV2873504	single nucleotide variant	NM_014236.4(GNPAT):c.1844-14A>G	not provided [RCV003553412]	likely benign	1	231275391	231275391	Human		name
405151261	CV2892200	single nucleotide variant	NM_014236.4(GNPAT):c.1938-18C>T	not provided [RCV003561672]	likely benign	1	231276117	231276117	Human		name
405127888	CV2893173	single nucleotide variant	NM_014236.4(GNPAT):c.1843+14C>T	not provided [RCV003559752]	likely benign	1	231275334	231275334	Human		name
405166691	CV2902372	single nucleotide variant	NM_014236.4(GNPAT):c.1999+18A>C	not provided [RCV003562800]	likely benign	1	231276214	231276214	Human		name
405111435	CV2903142	single nucleotide variant	NM_014236.4(GNPAT):c.1844-13C>T	not provided [RCV003557946]	likely benign	1	231275392	231275392	Human		name
405207946	CV2909049	single nucleotide variant	NM_014236.4(GNPAT):c.1055+16T>C	not provided [RCV003566689]	likely benign	1	231266423	231266423	Human		name
405207101	CV2913706	single nucleotide variant	NM_014236.4(GNPAT):c.1602+12A>G	not provided [RCV003566645]	likely benign	1	231272403	231272403	Human		name
405203550	CV2915073	single nucleotide variant	NM_014236.4(GNPAT):c.1279+12G>T	not provided [RCV003566111]	likely benign	1	231267915	231267915	Human		name
402485334	CV2922324	single nucleotide variant	NM_014236.4(GNPAT):c.1843+13T>C	not provided [RCV003572373]	likely benign	1	231275333	231275333	Human		name
405014921	CV2930528	single nucleotide variant	NM_014236.4(GNPAT):c.1844-11C>T	not provided [RCV003577058]	likely benign	1	231275394	231275394	Human		name
402469743	CV2931167	single nucleotide variant	NM_014236.4(GNPAT):c.1602+17A>C	not provided [RCV003570199]	likely benign	1	231272408	231272408	Human		name
405152350	CV2949204	single nucleotide variant	NM_014236.4(GNPAT):c.1937+11T>C	not provided [RCV003674101]	likely benign	1	231275509	231275509	Human		name
405159526	CV2950172	single nucleotide variant	NM_014236.4(GNPAT):c.1279+13G>A	not provided [RCV003674583]	likely benign	1	231267916	231267916	Human		name
405169303	CV2951139	single nucleotide variant	NM_014236.4(GNPAT):c.1523-19A>G	not provided [RCV003675287]	likely benign	1	231272293	231272293	Human		name
405121579	CV2952510	single nucleotide variant	NM_014236.4(GNPAT):c.1279+14A>G	not provided [RCV003671528]	likely benign	1	231267917	231267917	Human		name
405116112	CV2953267	single nucleotide variant	NM_014236.4(GNPAT):c.1523-18T>C	not provided [RCV003666937]	likely benign	1	231272294	231272294	Human		name
405143385	CV2958950	single nucleotide variant	NM_014236.4(GNPAT):c.1744-13C>G	not provided [RCV003673430]	likely benign	1	231275208	231275208	Human		name
405213718	CV2971355	single nucleotide variant	NM_014236.4(GNPAT):c.1056-13C>T	not provided [RCV003679742]	likely benign	1	231267667	231267667	Human		name
405234987	CV2972502	single nucleotide variant	NM_014236.4(GNPAT):c.1602+18A>C	not provided [RCV003682890]	likely benign	1	231272409	231272409	Human		name
405186837	CV2977531	single nucleotide variant	NM_014236.4(GNPAT):c.1522+10A>G	not provided [RCV003706095]	likely benign	1	231271010	231271010	Human		name
404984192	CV2986739	single nucleotide variant	NM_014236.4(GNPAT):c.1522+14A>C	not provided [RCV003691629]	likely benign	1	231271014	231271014	Human		name
405009584	CV2986886	single nucleotide variant	NM_014236.4(GNPAT):c.1522+15T>G	not provided [RCV003693867]	likely benign	1	231271015	231271015	Human		name
404996761	CV2992591	single nucleotide variant	NM_014236.4(GNPAT):c.1056-14G>C	not provided [RCV003692774]	likely benign	1	231267666	231267666	Human		name
402514570	CV2993108	single nucleotide variant	NM_014236.4(GNPAT):c.1843+12C>G	not provided [RCV003715964]	likely benign	1	231275332	231275332	Human		name
402482895	CV2997992	single nucleotide variant	NM_014236.4(GNPAT):c.1523-16A>G	not provided [RCV003686783]	likely benign	1	231272296	231272296	Human		name
405241809	CV3014585	single nucleotide variant	NM_014236.4(GNPAT):c.1279+15C>T	not provided [RCV003719358]	likely benign	1	231267918	231267918	Human		name
405151876	CV3031460	single nucleotide variant	NM_014236.4(GNPAT):c.1843+19G>A	not provided [RCV003703350]	likely benign	1	231275339	231275339	Human		name
405221063	CV3032274	single nucleotide variant	NM_014236.4(GNPAT):c.1938-12A>G	not provided [RCV003709973]	likely benign	1	231276123	231276123	Human		name
402478895	CV3033074	single nucleotide variant	NM_014236.4(GNPAT):c.2000-13T>C	not provided [RCV003712617]	likely benign	1	231277486	231277486	Human		name
405220937	CV3059825	single nucleotide variant	NM_014236.4(GNPAT):c.2000-19T>C	not provided [RCV003733186]	likely benign	1	231277480	231277480	Human		name
405147385	CV3067117	single nucleotide variant	NM_014236.4(GNPAT):c.1602+14A>C	not provided [RCV003726058]	likely benign	1	231272405	231272405	Human		name
405230439	CV3070206	single nucleotide variant	NM_014236.4(GNPAT):c.1844-12C>T	not provided [RCV003734802]	likely benign	1	231275393	231275393	Human		name
405167973	CV3078983	single nucleotide variant	NM_014236.4(GNPAT):c.1937+15A>G	not provided [RCV003727596]	likely benign	1	231275513	231275513	Human		name
405186162	CV3124346	single nucleotide variant	NM_014236.4(GNPAT):c.1743+16A>G	not provided [RCV003820545]	likely benign	1	231274078	231274078	Human		name
405131742	CV3133424	single nucleotide variant	NM_014236.4(GNPAT):c.1744-20A>G	not provided [RCV003838394]	likely benign	1	231275201	231275201	Human		name
405074021	CV3145530	single nucleotide variant	NM_014236.4(GNPAT):c.1055+18A>G	not provided [RCV003851115]	likely benign	1	231266425	231266425	Human		name
405207345	CV3149369	single nucleotide variant	NM_014236.4(GNPAT):c.1055+10G>A	not provided [RCV003845279]	likely benign	1	231266417	231266417	Human		name
405165965	CV3149463	single nucleotide variant	NM_014236.4(GNPAT):c.1522+15T>A	not provided [RCV003841125]	likely benign	1	231271015	231271015	Human		name
405230691	CV3153920	single nucleotide variant	NM_014236.4(GNPAT):c.1523-14G>A	not provided [RCV003848788]	likely benign	1	231272298	231272298	Human		name
597943465	CV3765815	single nucleotide variant	NM_014236.4(GNPAT):c.1602+13C>G	not provided [RCV005119193]	likely benign	1	231272404	231272404	Human		name
597940081	CV3785278	single nucleotide variant	NM_014236.4(GNPAT):c.1603-12C>A	not provided [RCV005133383]	likely benign	1	231273910	231273910	Human		name
597950902	CV3815243	single nucleotide variant	NM_014236.4(GNPAT):c.1999+16T>C	not provided [RCV005161193]	likely benign	1	231276212	231276212	Human		name
597914603	CV3833951	single nucleotide variant	NM_014236.4(GNPAT):c.1743+12T>C	not provided [RCV005183310]	likely benign	1	231274074	231274074	Human		name
597904415	CV3846134	single nucleotide variant	NM_014236.4(GNPAT):c.1603-14C>T	not provided [RCV005181756]	likely benign	1	231273908	231273908	Human		name
14718304	CV657355	single nucleotide variant	NM_014236.4(GNPAT):c.569-134A>G	not provided [RCV000830350]	benign	1	231265159	231265159	Human		name
14718295	CV657443	single nucleotide variant	NM_014236.4(GNPAT):c.438+205T>C	not provided [RCV000830346]	benign	1	231260888	231260888	Human		name
14743697	CV657444	single nucleotide variant	NM_014236.4(GNPAT):c.1056-20C>A	Rhizomelic chondrodysplasia punctata type 2 [RCV002501178]\|not provided [RCV000842239]	benign\|likely benign	1	231267660	231267660	Human	1	name , alternate_id
150405800	CV1175858	single nucleotide variant	NM_014236.4(GNPAT):c.1743+286A>C	not provided [RCV001545022]	likely benign	1	231274348	231274348	Human		name
150416733	CV1179216	single nucleotide variant	NM_014236.4(GNPAT):c.1055+306G>A	not provided [RCV001549799]	likely benign	1	231266713	231266713	Human		name
150416044	CV1189576	single nucleotide variant	NM_014236.4(GNPAT):c.1279+332G>A	not provided [RCV001568260]	likely benign	1	231268235	231268235	Human		name
150410972	CV1189577	single nucleotide variant	NM_014236.4(GNPAT):c.1522+101C>A	not provided [RCV001566326]	likely benign	1	231271101	231271101	Human		name
150415074	CV1189578	single nucleotide variant	NM_014236.4(GNPAT):c.1937+280C>T	not provided [RCV001567821]	likely benign	1	231275778	231275778	Human		name
150446337	CV1201711	single nucleotide variant	NM_014236.4(GNPAT):c.1744-122A>G	not provided [RCV001584579]	likely benign	1	231275099	231275099	Human		name
150488596	CV1208280	single nucleotide variant	NM_014236.4(GNPAT):c.2000-258A>G	not provided [RCV001592140]	likely benign	1	231277241	231277241	Human		name
150499307	CV1209060	single nucleotide variant	NM_014236.4(GNPAT):c.1279+165C>A	not provided [RCV001594278]	likely benign	1	231268068	231268068	Human		name
150491207	CV1210328	single nucleotide variant	NM_014236.4(GNPAT):c.1279+268T>C	not provided [RCV001592610]	likely benign	1	231268171	231268171	Human		name
14718366	CV657356	single nucleotide variant	NM_014236.4(GNPAT):c.1279+181C>T	not provided [RCV000830370]	benign	1	231268084	231268084	Human		name
14718394	CV657358	single nucleotide variant	NM_014236.4(GNPAT):c.1522+215C>T	not provided [RCV000830378]	benign	1	231271215	231271215	Human		name
14718307	CV657404	single nucleotide variant	NM_014236.4(GNPAT):c.1056-161T>C	not provided [RCV000830351]	benign	1	231267519	231267519	Human		name
14718310	CV657450	single nucleotide variant	NM_014236.4(GNPAT):c.1279+126G>A	not provided [RCV000830352]	benign	1	231268029	231268029	Human		name
14718370	CV657452	single nucleotide variant	NM_014236.4(GNPAT):c.1279+317A>G	not provided [RCV000830371]	benign	1	231268220	231268220	Human		name
14718374	CV657453	single nucleotide variant	NM_014236.4(GNPAT):c.1280-209T>C	not provided [RCV000830372]	benign	1	231270549	231270549	Human		name
14705967	CV657459	single nucleotide variant	NM_014236.4(GNPAT):c.1743+307T>C	not provided [RCV000826370]	benign	1	231274369	231274369	Human		name
14722994	CV657460	single nucleotide variant	NM_014236.4(GNPAT):c.2000-264G>A	not provided [RCV000832341]	likely benign	1	231277235	231277235	Human		name
597958087	CV3796892	single nucleotide variant	NM_014236.4(GNPAT):c.12C>T (p.Ser4=)	not provided [RCV005137790]	likely benign	1	231241390	231241390	Human		name
11580140	CV279737	single nucleotide variant	NM_014236.4(GNPAT):c.57C>T (p.Ser19=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000324213]\|not provided [RCV001514804]	benign\|likely benign\|uncertain significance	1	231241435	231241435	Human	1	name , alternate_id
405175676	CV2864615	deletion	NM_014236.4(GNPAT):c.568+18_568+25del	not provided [RCV003542736]	likely benign	1	231262869	231262876	Human		name
405153902	CV2949358	duplication	NM_014236.4(GNPAT):c.1279+6_1279+8dup	not provided [RCV003674200]	likely benign	1	231267907	231267908	Human		name
405188403	CV2974187	single nucleotide variant	NM_014236.4(GNPAT):c.69C>T (p.Leu23=)	not provided [RCV003676972]	likely benign	1	231241447	231241447	Human		name
405254636	CV2978149	single nucleotide variant	NM_014236.4(GNPAT):c.66G>T (p.Val22=)	not provided [RCV003723102]	likely benign	1	231241444	231241444	Human		name
405225751	CV3068450	single nucleotide variant	NM_014236.4(GNPAT):c.66G>A (p.Val22=)	not provided [RCV003734014]	likely benign	1	231241444	231241444	Human		name
405025607	CV3079098	single nucleotide variant	NM_014236.4(GNPAT):c.99T>C (p.Asp33=)	not provided [RCV003738762]	likely benign	1	231250981	231250981	Human		name
405049626	CV3080004	single nucleotide variant	NM_014236.4(GNPAT):c.42C>G (p.Gly14=)	not provided [RCV003740438]	likely benign	1	231241420	231241420	Human		name
405215572	CV3124596	single nucleotide variant	NM_014236.4(GNPAT):c.63C>T (p.Val21=)	not provided [RCV003823958]	likely benign	1	231241441	231241441	Human		name
405254673	CV3175473	deletion	NM_014236.4(GNPAT):c.925-18_925-17del	not provided [RCV003871740]	likely benign	1	231266259	231266260	Human		name
402506152	CV3181633	single nucleotide variant	NM_014236.4(GNPAT):c.30T>C (p.Tyr10=)	not provided [RCV003878467]	likely benign	1	231241408	231241408	Human		name
597962729	CV3841072	single nucleotide variant	NM_014236.4(GNPAT):c.63C>G (p.Val21=)	not provided [RCV005193365]	likely benign	1	231241441	231241441	Human		name
151723633	CV1439610	single nucleotide variant	NM_014236.4(GNPAT):c.23A>G (p.Asn8Ser)	not provided [RCV002040407]	uncertain significance	1	231241401	231241401	Human		name
155975051	CV2088810	single nucleotide variant	NM_014236.4(GNPAT):c.219T>C (p.Cys73=)	not provided [RCV002863494]	likely benign	1	231251101	231251101	Human		name
11548817	CV249766	single nucleotide variant	NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe)	Rhizomelic chondrodysplasia punctata type 2 [RCV001001501]\|not provided [RCV000961375]\|not specified [RCV000249589]	benign\|likely benign	1	231241404	231241404	Human	1	name , alternate_id
405214860	CV2876017	single nucleotide variant	NM_014236.4(GNPAT):c.249T>C (p.Tyr83=)	not provided [RCV003553085]	likely benign	1	231251131	231251131	Human		name
405220681	CV2912699	single nucleotide variant	NM_014236.4(GNPAT):c.270G>A (p.Lys90=)	not provided [RCV003568384]	likely benign	1	231260515	231260515	Human		name
402504283	CV2933551	single nucleotide variant	NM_014236.4(GNPAT):c.297C>T (p.Leu99=)	not provided [RCV003574308]	likely benign	1	231260542	231260542	Human		name
405220623	CV2969770	single nucleotide variant	NM_014236.4(GNPAT):c.177C>T (p.Val59=)	not provided [RCV003680625]	likely benign	1	231251059	231251059	Human		name
405241433	CV3014443	single nucleotide variant	NM_014236.4(GNPAT):c.210T>C (p.Asp70=)	not provided [RCV003719288]	likely benign	1	231251092	231251092	Human		name
405130866	CV3115050	single nucleotide variant	NM_014236.4(GNPAT):c.159A>G (p.Lys53=)	not provided [RCV003815895]	likely benign	1	231251041	231251041	Human		name
405145307	CV3155761	single nucleotide variant	NM_014236.4(GNPAT):c.180T>C (p.Tyr60=)	not provided [RCV003855803]	likely benign	1	231251062	231251062	Human		name
597951984	CV3765531	single nucleotide variant	NM_014236.4(GNPAT):c.294C>T (p.Val98=)	not provided [RCV005121175]	likely benign	1	231260539	231260539	Human		name
15142308	CV707196	single nucleotide variant	NM_014236.4(GNPAT):c.165C>T (p.Tyr55=)	not provided [RCV000966465]	likely benign	1	231251047	231251047	Human		name
150337372	CV1165503	single nucleotide variant	NM_014236.4(GNPAT):c.507C>T (p.Leu169=)	not provided [RCV001532578]	likely benign	1	231262791	231262791	Human		name
150531773	CV1291387	duplication	NM_014236.4(GNPAT):c.261+206_261+212dup	not provided [RCV001733209]	likely benign	1	231251346	231251347	Human		name
151767537	CV1341557	single nucleotide variant	NM_014236.4(GNPAT):c.37G>T (p.Val13Phe)	not provided [RCV001874121]	uncertain significance	1	231241415	231241415	Human		name
151715792	CV1434893	single nucleotide variant	NM_014236.4(GNPAT):c.56G>C (p.Ser19Thr)	not provided [RCV001890308]	uncertain significance	1	231241434	231241434	Human		name
152063466	CV1575177	single nucleotide variant	NM_014236.4(GNPAT):c.303G>A (p.Glu101=)	not provided [RCV002110418]	likely benign	1	231260548	231260548	Human		name
152153614	CV1579339	single nucleotide variant	NM_014236.4(GNPAT):c.628C>A (p.Arg210=)	not provided [RCV002158553]	likely benign	1	231265352	231265352	Human		name
152156430	CV1589585	single nucleotide variant	NM_014236.4(GNPAT):c.999A>T (p.Ser333=)	not provided [RCV002122499]	likely benign	1	231266351	231266351	Human		name
156381761	CV1960899	single nucleotide variant	NM_014236.4(GNPAT):c.726C>G (p.Leu242=)	not provided [RCV002583223]	uncertain significance	1	231265741	231265741	Human		name
10404389	CV206769	single nucleotide variant	NM_014236.4(GNPAT):c.555A>T (p.Ile185=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000999765]\|not provided [RCV000757338]\|not specified [RCV000194948]	benign\|likely benign\|uncertain significance	1	231262839	231262839	Human	1	name , alternate_id
11552431	CV249767	single nucleotide variant	NM_014236.4(GNPAT):c.525A>G (p.Leu175=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000384369]\|not provided [RCV000972181]\|not specified [RCV000254370]	benign\|likely benign	1	231262809	231262809	Human	1	name , alternate_id
11545906	CV249768	single nucleotide variant	NM_014236.4(GNPAT):c.915G>A (p.Glu305=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000999944]\|not provided [RCV000676050]\|not specified [RCV000245766]	benign	1	231266156	231266156	Human	1	name , alternate_id
11579117	CV279460	single nucleotide variant	NM_014236.4(GNPAT):c.798A>G (p.Pro266=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000295790]\|not provided [RCV003546501]	likely benign\|uncertain significance	1	231266039	231266039	Human	1	name , alternate_id
402483710	CV2857454	single nucleotide variant	NM_014236.4(GNPAT):c.633T>G (p.Arg211=)	not provided [RCV003544274]	likely benign	1	231265357	231265357	Human		name
402484246	CV2860820	single nucleotide variant	NM_014236.4(GNPAT):c.795G>A (p.Glu265=)	not provided [RCV003544248]	likely benign	1	231266036	231266036	Human		name
405082938	CV2865008	single nucleotide variant	NM_014236.4(GNPAT):c.319T>C (p.Leu107=)	not provided [RCV003549368]	likely benign	1	231260564	231260564	Human		name
405085365	CV2865917	microsatellite	NM_014236.4(GNPAT):c.1056-15_1056-14del	not provided [RCV003549528]	likely benign	1	231267663	231267664	Human		name
405218675	CV2869882	single nucleotide variant	NM_014236.4(GNPAT):c.450C>G (p.Ala150=)	not provided [RCV003553556]	likely benign	1	231262734	231262734	Human		name
405239672	CV2882535	single nucleotide variant	NM_014236.4(GNPAT):c.966A>G (p.Gly322=)	not provided [RCV003557124]	likely benign	1	231266318	231266318	Human		name
405224784	CV2885497	single nucleotide variant	NM_014236.4(GNPAT):c.396A>G (p.Gln132=)	not provided [RCV003554411]	likely benign	1	231260641	231260641	Human		name
405228765	CV2894656	single nucleotide variant	NM_014236.4(GNPAT):c.777T>C (p.Leu259=)	not provided [RCV003555135]	likely benign	1	231266018	231266018	Human		name
402520089	CV2902633	single nucleotide variant	NM_014236.4(GNPAT):c.453C>T (p.Ile151=)	not provided [RCV003575788]	likely benign	1	231262737	231262737	Human		name
405137718	CV2907054	single nucleotide variant	NM_014236.4(GNPAT):c.891T>G (p.Leu297=)	not provided [RCV003560505]	likely benign	1	231266132	231266132	Human		name
402467759	CV2910634	single nucleotide variant	NM_014236.4(GNPAT):c.429T>A (p.Gly143=)	not provided [RCV003569746]	likely benign	1	231260674	231260674	Human		name
402464800	CV2916460	single nucleotide variant	NM_014236.4(GNPAT):c.543T>C (p.Pro181=)	not provided [RCV003569099]	likely benign	1	231262827	231262827	Human		name
405187601	CV2917719	single nucleotide variant	NM_014236.4(GNPAT):c.393A>G (p.Lys131=)	not provided [RCV003564580]	likely benign	1	231260638	231260638	Human		name
405076221	CV2948620	single nucleotide variant	NM_014236.4(GNPAT):c.789G>A (p.Val263=)	not provided [RCV003664273]	likely benign	1	231266030	231266030	Human		name
405211499	CV2966883	microsatellite	NM_014236.4(GNPAT):c.1938-12_1938-10del	not provided [RCV003679390]	likely benign	1	231276118	231276120	Human		name
405007339	CV3006498	single nucleotide variant	NM_014236.4(GNPAT):c.873T>C (p.Thr291=)	not provided [RCV003693692]	likely benign	1	231266114	231266114	Human		name
402490876	CV3011855	single nucleotide variant	NM_014236.4(GNPAT):c.474G>A (p.Leu158=)	not provided [RCV003687520]	likely benign	1	231262758	231262758	Human		name
405001638	CV3015290	single nucleotide variant	NM_014236.4(GNPAT):c.969C>T (p.Ser323=)	not provided [RCV003693235]	likely benign	1	231266321	231266321	Human		name
405027266	CV3015466	single nucleotide variant	NM_014236.4(GNPAT):c.786T>C (p.Ile262=)	not provided [RCV003695301]	likely benign	1	231266027	231266027	Human		name
405159448	CV3021330	single nucleotide variant	NM_014236.4(GNPAT):c.928T>C (p.Leu310=)	not provided [RCV003703856]	likely benign	1	231266280	231266280	Human		name
405089969	CV3025248	single nucleotide variant	NM_014236.4(GNPAT):c.472C>T (p.Leu158=)	not provided [RCV003699667]	likely benign	1	231262756	231262756	Human		name
402502779	CV3035572	single nucleotide variant	NM_014236.4(GNPAT):c.864G>A (p.Leu288=)	not provided [RCV003714846]	likely benign	1	231266105	231266105	Human		name
405185495	CV3040392	single nucleotide variant	NM_014236.4(GNPAT):c.480T>C (p.Pro160=)	not provided [RCV003705975]	likely benign	1	231262764	231262764	Human		name
405140324	CV3045933	single nucleotide variant	NM_014236.4(GNPAT):c.981C>T (p.Tyr327=)	not provided [RCV003725591]	likely benign	1	231266333	231266333	Human		name
405123470	CV3046619	single nucleotide variant	NM_014236.4(GNPAT):c.990T>C (p.Asp330=)	not provided [RCV003724143]	likely benign	1	231266342	231266342	Human		name
405136723	CV3048404	single nucleotide variant	NM_014236.4(GNPAT):c.825C>T (p.Thr275=)	not provided [RCV003725279]	likely benign	1	231266066	231266066	Human		name
405035808	CV3072680	single nucleotide variant	NM_014236.4(GNPAT):c.387A>G (p.Val129=)	not provided [RCV003739509]	likely benign	1	231260632	231260632	Human		name
405234413	CV3073886	single nucleotide variant	NM_014236.4(GNPAT):c.768A>G (p.Lys256=)	not provided [RCV003735613]	likely benign	1	231265783	231265783	Human		name
405235478	CV3079393	single nucleotide variant	NM_014236.4(GNPAT):c.612G>A (p.Ser204=)	not provided [RCV003735814]	likely benign	1	231265336	231265336	Human		name
405083981	CV3121917	single nucleotide variant	NM_014236.4(GNPAT):c.921A>C (p.Thr307=)	not provided [RCV003810672]	likely benign	1	231266162	231266162	Human		name
404985446	CV3128371	single nucleotide variant	NM_014236.4(GNPAT):c.534T>C (p.Tyr178=)	not provided [RCV003826644]	likely benign	1	231262818	231262818	Human		name
405061766	CV3129598	single nucleotide variant	NM_014236.4(GNPAT):c.897G>A (p.Gly299=)	not provided [RCV003832867]	likely benign	1	231266138	231266138	Human		name
405077384	CV3136943	single nucleotide variant	NM_014236.4(GNPAT):c.666A>G (p.Val222=)	not provided [RCV003833841]	likely benign	1	231265390	231265390	Human		name
405199847	CV3147214	single nucleotide variant	NM_014236.4(GNPAT):c.441A>G (p.Leu147=)	not provided [RCV003844374]	likely benign	1	231262725	231262725	Human		name
405191586	CV3157106	single nucleotide variant	NM_014236.4(GNPAT):c.996G>T (p.Val332=)	not provided [RCV003859794]	likely benign	1	231266348	231266348	Human		name
405152956	CV3162911	single nucleotide variant	NM_014236.4(GNPAT):c.423A>G (p.Glu141=)	not provided [RCV003856354]	likely benign	1	231260668	231260668	Human		name
402476781	CV3173864	single nucleotide variant	NM_014236.4(GNPAT):c.603A>G (p.Leu201=)	not provided [RCV003875402]	likely benign	1	231265327	231265327	Human		name
404978912	CV3176008	single nucleotide variant	NM_014236.4(GNPAT):c.708T>C (p.Ala236=)	not provided [RCV003880108]	likely benign	1	231265723	231265723	Human		name
402506517	CV3181671	single nucleotide variant	NM_014236.4(GNPAT):c.624C>T (p.Phe208=)	not provided [RCV003878505]	likely benign	1	231265348	231265348	Human		name
405001983	CV3184092	single nucleotide variant	NM_014236.4(GNPAT):c.873T>G (p.Thr291=)	not provided [RCV003882675]	likely benign	1	231266114	231266114	Human		name
407456269	CV3415846	single nucleotide variant	NM_014236.4(GNPAT):c.705T>C (p.Tyr235=)	not provided [RCV004598723]	likely benign	1	231265720	231265720	Human		name
12837480	CV364929	single nucleotide variant	NM_014236.4(GNPAT):c.405G>A (p.Ser135=)	not provided [RCV002059799]\|not specified [RCV000425231]	likely benign	1	231260650	231260650	Human		name
597680518	CV3678306	single nucleotide variant	NM_014236.4(GNPAT):c.76T>C (p.Ser26Pro)	Inborn genetic diseases [RCV004982671]	uncertain significance	1	231241454	231241454	Human	1	name
597942922	CV3780043	single nucleotide variant	NM_014236.4(GNPAT):c.828C>T (p.Tyr276=)	not provided [RCV005119052]	likely benign	1	231266069	231266069	Human		name
597955932	CV3792285	single nucleotide variant	NM_014236.4(GNPAT):c.882G>A (p.Val294=)	not provided [RCV005137172]	likely benign	1	231266123	231266123	Human		name
597969365	CV3821488	single nucleotide variant	NM_014236.4(GNPAT):c.513G>A (p.Leu171=)	not provided [RCV005166130]	likely benign	1	231262797	231262797	Human		name
597917239	CV3842048	single nucleotide variant	NM_014236.4(GNPAT):c.601C>T (p.Leu201=)	not provided [RCV005183723]	likely benign	1	231265325	231265325	Human		name
15190822	CV696571	single nucleotide variant	NM_014236.4(GNPAT):c.777T>A (p.Leu259=)	not provided [RCV000954590]	likely benign	1	231266018	231266018	Human		name
15193287	CV718785	single nucleotide variant	NM_014236.4(GNPAT):c.65T>C (p.Val22Ala)	Rhizomelic chondrodysplasia punctata type 2 [RCV001285825]\|not provided [RCV000888905]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	231241443	231241443	Human	1	name , alternate_id
15156519	CV732261	single nucleotide variant	NM_014236.4(GNPAT):c.747T>C (p.Ser249=)	Rhizomelic chondrodysplasia punctata type 2 [RCV001098553]\|not provided [RCV000902345]	likely benign\|uncertain significance	1	231265762	231265762	Human	1	name , alternate_id
28886740	CV863862	single nucleotide variant	NM_014236.4(GNPAT):c.930G>A (p.Leu310=)	Rhizomelic chondrodysplasia punctata type 2 [RCV001098555]\|not provided [RCV003558663]	likely benign\|uncertain significance	1	231266282	231266282	Human	1	name , alternate_id
127328754	CV1110240	single nucleotide variant	NM_014236.4(GNPAT):c.1476A>G (p.Pro492=)	not provided [RCV001469752]	likely benign	1	231270954	231270954	Human		name
150549240	CV1295045	single nucleotide variant	NM_014236.4(GNPAT):c.140A>C (p.Asp47Ala)	not provided [RCV001765006]	uncertain significance	1	231251022	231251022	Human		name
151233419	CV1317080	single nucleotide variant	NM_014236.4(GNPAT):c.1395C>T (p.Val465=)	not provided [RCV001786901]	likely benign	1	231270873	231270873	Human		name
151867109	CV1358820	single nucleotide variant	NM_014236.4(GNPAT):c.154A>G (p.Met52Val)	not provided [RCV001939292]	uncertain significance	1	231251036	231251036	Human		name
151709682	CV1360994	single nucleotide variant	NM_014236.4(GNPAT):c.1998T>A (p.Leu666=)	not provided [RCV001889103]	uncertain significance	1	231276195	231276195	Human		name
151759663	CV1361761	single nucleotide variant	NM_014236.4(GNPAT):c.253A>G (p.Ile85Val)	not provided [RCV001928360]	uncertain significance	1	231251135	231251135	Human		name
151814476	CV1444418	deletion	NM_014236.4(GNPAT):c.407del (p.Lys136fs)	not provided [RCV001933529]	pathogenic	1	231260651	231260651	Human		name
151866021	CV1484413	single nucleotide variant	NM_014236.4(GNPAT):c.253A>C (p.Ile85Leu)	not provided [RCV001959834]	uncertain significance	1	231251135	231251135	Human		name
151720083	CV1505986	single nucleotide variant	NM_014236.4(GNPAT):c.179A>G (p.Tyr60Cys)	not provided [RCV002039945]	uncertain significance	1	231251061	231251061	Human		name
152131642	CV1521677	single nucleotide variant	NM_014236.4(GNPAT):c.1213C>T (p.Leu405=)	not provided [RCV002199406]	likely benign	1	231267837	231267837	Human		name
152084247	CV1569667	single nucleotide variant	NM_014236.4(GNPAT):c.1443T>C (p.Tyr481=)	not provided [RCV002113171]	likely benign	1	231270921	231270921	Human		name
156320084	CV1872979	single nucleotide variant	NM_014236.4(GNPAT):c.1914C>T (p.Leu638=)	not provided [RCV003063002]	likely benign	1	231275475	231275475	Human		name
156380018	CV1873462	single nucleotide variant	NM_014236.4(GNPAT):c.1386G>A (p.Ser462=)	not provided [RCV003067089]	likely benign	1	231270864	231270864	Human		name
156392854	CV1879874	single nucleotide variant	NM_014236.4(GNPAT):c.1416C>T (p.His472=)	not provided [RCV003068221]	likely benign	1	231270894	231270894	Human		name
156401576	CV1889152	single nucleotide variant	NM_014236.4(GNPAT):c.1809A>G (p.Ala603=)	not provided [RCV003069191]	likely benign	1	231275286	231275286	Human		name
156371775	CV1901449	single nucleotide variant	NM_014236.4(GNPAT):c.1860T>C (p.Tyr620=)	not provided [RCV002582471]	likely benign	1	231275421	231275421	Human		name
156417167	CV1915696	single nucleotide variant	NM_014236.4(GNPAT):c.1836C>T (p.Leu612=)	not provided [RCV002610574]	likely benign	1	231275313	231275313	Human		name
155926370	CV1915945	single nucleotide variant	NM_014236.4(GNPAT):c.226C>T (p.Leu76Phe)	not provided [RCV002614788]	uncertain significance	1	231251108	231251108	Human		name
156307441	CV1924804	single nucleotide variant	NM_014236.4(GNPAT):c.1731G>A (p.Val577=)	not provided [RCV002629570]	likely benign	1	231274050	231274050	Human		name
156126352	CV2112354	single nucleotide variant	NM_014236.4(GNPAT):c.1971T>C (p.Pro657=)	not provided [RCV002928020]	likely benign	1	231276168	231276168	Human		name
8559585	CV21883	deletion	NM_014236.4(GNPAT):c.780del (p.Asn261fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV000007246]	pathogenic	1	231266021	231266021	Human	1	name , alternate_id
156127567	CV2223819	single nucleotide variant	NM_014236.4(GNPAT):c.281A>C (p.Gln94Pro)	Inborn genetic diseases [RCV002708250]	uncertain significance	1	231260526	231260526	Human	1	name
11551113	CV249769	single nucleotide variant	NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)	Rhizomelic chondrodysplasia punctata [RCV000269302]\|Rhizomelic chondrodysplasia punctata type 2 [RCV001286439]\|not provided [RCV000879373]\|not specified [RCV000252621]	likely benign\|uncertain significance	1	231267836	231267836	Human	2	name , alternate_id
11661909	CV279459	single nucleotide variant	NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg)	Rhizomelic chondrodysplasia punctata type 2 [RCV000381062]	uncertain significance	1	231260523	231260523	Human	1	name , alternate_id
11578054	CV279476	single nucleotide variant	NM_014236.4(GNPAT):c.1308G>A (p.Pro436=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000273325]\|not provided [RCV000882334]	benign\|likely benign\|uncertain significance	1	231270786	231270786	Human	1	name , alternate_id
11581862	CV279484	single nucleotide variant	NM_014236.4(GNPAT):c.1453C>T (p.Leu485=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000387512]\|not provided [RCV000757343]\|not specified [RCV000427659]	likely benign\|uncertain significance	1	231270931	231270931	Human	1	name , alternate_id
11661011	CV279486	single nucleotide variant	NM_014236.4(GNPAT):c.1488A>G (p.Ala496=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000372424]	uncertain significance	1	231270966	231270966	Human	1	name , alternate_id
11579095	CV279758	single nucleotide variant	NM_014236.4(GNPAT):c.1479C>T (p.Ser493=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000295425]\|not provided [RCV000676052]\|not specified [RCV000422220]	benign\|likely benign	1	231270957	231270957	Human	1	name , alternate_id
11648640	CV281035	single nucleotide variant	NM_014236.4(GNPAT):c.1680G>A (p.Glu560=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000282756]	uncertain significance	1	231273999	231273999	Human	1	name , alternate_id
11582305	CV281066	single nucleotide variant	NM_014236.4(GNPAT):c.1890C>T (p.Asn630=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000406905]\|not provided [RCV003556314]	likely benign\|uncertain significance	1	231275451	231275451	Human	1	name , alternate_id
11578762	CV281162	single nucleotide variant	NM_014236.4(GNPAT):c.286G>T (p.Val96Leu)	Inborn genetic diseases [RCV002520458]\|Rhizomelic chondrodysplasia punctata type 2 [RCV000288761]\|not provided [RCV001302329]	uncertain significance	1	231260531	231260531	Human	2	name , alternate_id
11579483	CV281163	single nucleotide variant	NM_014236.4(GNPAT):c.1044C>T (p.Asn348=)	Rhizomelic chondrodysplasia punctata type 2 [RCV000304930]	uncertain significance	1	231266396	231266396	Human	1	name , alternate_id
401936952	CV2816222	single nucleotide variant	NM_014236.4(GNPAT):c.1854A>G (p.Gln618=)	not provided [RCV003414948]	likely benign	1	231275415	231275415	Human		name
401942913	CV2836048	microsatellite	NM_014236.4(GNPAT):c.26_27del (p.Ser9fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468287]	likely pathogenic	1	231241402	231241403	Human		name , alternate_id
401941394	CV2836051	deletion	NM_014236.4(GNPAT):c.574del (p.Leu192fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV003461711]\|not provided [RCV003779038]	pathogenic\|likely pathogenic	1	231265297	231265297	Human	1	name , alternate_id
401942928	CV2836052	single nucleotide variant	NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468290]\|not provided [RCV005100171]	pathogenic\|likely pathogenic	1	231251062	231251062	Human	1	name , alternate_id
402489141	CV2866482	duplication	NM_014236.4(GNPAT):c.410dup (p.Cys138fs)	not provided [RCV003572834]	pathogenic	1	231260654	231260655	Human		name
402518178	CV2870844	single nucleotide variant	NM_014236.4(GNPAT):c.1707A>G (p.Leu569=)	not provided [RCV003547557]	likely benign	1	231274026	231274026	Human		name
405207037	CV2874073	single nucleotide variant	NM_014236.4(GNPAT):c.1866A>T (p.Val622=)	not provided [RCV003552073]	likely benign	1	231275427	231275427	Human		name
402494722	CV2874444	single nucleotide variant	NM_014236.4(GNPAT):c.1212T>G (p.Ala404=)	not provided [RCV003545277]	likely benign	1	231267836	231267836	Human		name
405215735	CV2876178	single nucleotide variant	NM_014236.4(GNPAT):c.1596A>G (p.Thr532=)	not provided [RCV003553171]	likely benign	1	231272385	231272385	Human		name
405092424	CV2878194	single nucleotide variant	NM_014236.4(GNPAT):c.1758C>T (p.Tyr586=)	not provided [RCV003549995]	likely benign	1	231275235	231275235	Human		name
402494382	CV2887068	single nucleotide variant	NM_014236.4(GNPAT):c.1659G>T (p.Thr553=)	not provided [RCV003573245]	likely benign	1	231273978	231273978	Human		name
405226872	CV2888876	single nucleotide variant	NM_014236.4(GNPAT):c.1506A>G (p.Thr502=)	not provided [RCV003554816]	likely benign	1	231270984	231270984	Human		name
405154387	CV2894263	single nucleotide variant	NM_014236.4(GNPAT):c.1269C>T (p.Leu423=)	not provided [RCV003561947]	likely benign	1	231267893	231267893	Human		name
405110074	CV2898895	single nucleotide variant	NM_014236.4(GNPAT):c.1191G>C (p.Arg397=)	not provided [RCV003557751]	likely benign	1	231267815	231267815	Human		name
402480141	CV2910885	deletion	NM_014236.4(GNPAT):c.397del (p.Ile133fs)	not provided [RCV003571987]	pathogenic	1	231260640	231260640	Human		name
405205440	CV2912588	single nucleotide variant	NM_014236.4(GNPAT):c.1569T>C (p.Asp523=)	not provided [RCV003566357]	likely benign	1	231272358	231272358	Human		name
405212554	CV2917563	single nucleotide variant	NM_014236.4(GNPAT):c.1974C>T (p.Ala658=)	not provided [RCV003567348]	likely benign	1	231276171	231276171	Human		name
405189318	CV2917904	single nucleotide variant	NM_014236.4(GNPAT):c.1551A>C (p.Leu517=)	not provided [RCV003564682]	likely benign	1	231272340	231272340	Human		name
402498868	CV2946800	single nucleotide variant	NM_014236.4(GNPAT):c.1812C>G (p.Val604=)	not provided [RCV003661399]	likely benign	1	231275289	231275289	Human		name
405100610	CV2948037	single nucleotide variant	NM_014236.4(GNPAT):c.1353C>T (p.Asp451=)	not provided [RCV003666058]	likely benign	1	231270831	231270831	Human		name
405136207	CV2958144	single nucleotide variant	NM_014236.4(GNPAT):c.2013A>T (p.Pro671=)	not provided [RCV003672838]	likely benign	1	231277512	231277512	Human		name
405214472	CV2971351	single nucleotide variant	NM_014236.4(GNPAT):c.1203C>T (p.Asp401=)	not provided [RCV003679739]	likely benign	1	231267827	231267827	Human		name
405244047	CV2971852	single nucleotide variant	NM_014236.4(GNPAT):c.1848C>T (p.Thr616=)	not provided [RCV003684743]	likely benign	1	231275409	231275409	Human		name
405236007	CV2973293	single nucleotide variant	NM_014236.4(GNPAT):c.1908G>A (p.Val636=)	not provided [RCV003683093]	likely benign	1	231275469	231275469	Human		name
405229837	CV2977402	single nucleotide variant	NM_014236.4(GNPAT):c.1206T>C (p.Phe402=)	not provided [RCV003711325]	likely benign	1	231267830	231267830	Human		name
405186829	CV2977530	duplication	NM_014236.4(GNPAT):c.822dup (p.Thr275fs)	not provided [RCV003706094]	pathogenic	1	231266062	231266063	Human		name
405012080	CV2990375	deletion	NM_014236.4(GNPAT):c.593del (p.Gly198fs)	not provided [RCV003694071]	pathogenic	1	231265316	231265316	Human		name
405249969	CV2997149	single nucleotide variant	NM_014236.4(GNPAT):c.1167A>T (p.Ile389=)	not provided [RCV003721489]	likely benign	1	231267791	231267791	Human		name
402480941	CV3001053	single nucleotide variant	NM_014236.4(GNPAT):c.1479C>G (p.Ser493=)	not provided [RCV003686599]	likely benign	1	231270957	231270957	Human		name
405000692	CV3005417	single nucleotide variant	NM_014236.4(GNPAT):c.1410C>T (p.Leu470=)	not provided [RCV003693142]	likely benign	1	231270888	231270888	Human		name
404999435	CV3009008	single nucleotide variant	NM_014236.4(GNPAT):c.1770A>G (p.Glu590=)	not provided [RCV003693027]	likely benign	1	231275247	231275247	Human		name
404980029	CV3009776	single nucleotide variant	NM_014236.4(GNPAT):c.1344T>C (p.Leu448=)	not provided [RCV003691068]	likely benign	1	231270822	231270822	Human		name
405030501	CV3012704	single nucleotide variant	NM_014236.4(GNPAT):c.1581C>T (p.Phe527=)	not provided [RCV003695531]	likely benign	1	231272370	231272370	Human		name
405182060	CV3024407	single nucleotide variant	NM_014236.4(GNPAT):c.1236A>G (p.Leu412=)	not provided [RCV003705633]	likely benign	1	231267860	231267860	Human		name
405175683	CV3049318	single nucleotide variant	NM_014236.4(GNPAT):c.1458C>T (p.Leu486=)	not provided [RCV003728319]	likely benign	1	231270936	231270936	Human		name
405221640	CV3056788	single nucleotide variant	NM_014236.4(GNPAT):c.1659G>A (p.Thr553=)	not provided [RCV003733402]	likely benign	1	231273978	231273978	Human		name
405159854	CV3061780	single nucleotide variant	NM_014236.4(GNPAT):c.1077T>G (p.Ser359=)	not provided [RCV003727019]	likely benign	1	231267701	231267701	Human		name
405151970	CV3063848	single nucleotide variant	NM_014236.4(GNPAT):c.1665C>T (p.Asp555=)	not provided [RCV003726486]	likely benign	1	231273984	231273984	Human		name
405240065	CV3064242	single nucleotide variant	NM_014236.4(GNPAT):c.1992A>G (p.Glu664=)	not provided [RCV003737055]	likely benign	1	231276189	231276189	Human		name
405238275	CV3077950	single nucleotide variant	NM_014236.4(GNPAT):c.1092C>T (p.Ala364=)	not provided [RCV003736321]	likely benign	1	231267716	231267716	Human		name
405131486	CV3115105	single nucleotide variant	NM_014236.4(GNPAT):c.1110C>T (p.Ala370=)	not provided [RCV003815950]	likely benign	1	231267734	231267734	Human		name
405034295	CV3130455	single nucleotide variant	NM_014236.4(GNPAT):c.1494A>G (p.Ala498=)	not provided [RCV003830862]	likely benign	1	231270972	231270972	Human		name
405071225	CV3145366	single nucleotide variant	NM_014236.4(GNPAT):c.1425C>T (p.Leu475=)	not provided [RCV003850951]	likely benign	1	231270903	231270903	Human		name
405050413	CV3150860	single nucleotide variant	NM_014236.4(GNPAT):c.1395C>G (p.Val465=)	not provided [RCV003849464]	likely benign	1	231270873	231270873	Human		name
405147185	CV3152085	single nucleotide variant	NM_014236.4(GNPAT):c.1597C>T (p.Leu533=)	not provided [RCV003856056]	likely benign	1	231272386	231272386	Human		name
405144051	CV3155677	single nucleotide variant	NM_014236.4(GNPAT):c.1125T>G (p.Leu375=)	not provided [RCV003855719]	likely benign	1	231267749	231267749	Human		name
405078533	CV3156348	single nucleotide variant	NM_014236.4(GNPAT):c.1059C>T (p.Tyr353=)	not provided [RCV003851406]	likely benign	1	231267683	231267683	Human		name
405248076	CV3159224	single nucleotide variant	NM_014236.4(GNPAT):c.1305C>T (p.Val435=)	Rhizomelic chondrodysplasia punctata type 2 [RCV005230594]\|not provided [RCV003869369]	likely benign	1	231270783	231270783	Human	1	name , alternate_id
405197578	CV3168285	single nucleotide variant	NM_014236.4(GNPAT):c.1821C>T (p.Phe607=)	not provided [RCV003860417]	likely benign	1	231275298	231275298	Human		name
402484933	CV3171305	single nucleotide variant	NM_014236.4(GNPAT):c.1881G>T (p.Val627=)	not provided [RCV003876332]	likely benign	1	231275442	231275442	Human		name
405254393	CV3175108	single nucleotide variant	NM_014236.4(GNPAT):c.1398T>C (p.Asp466=)	not provided [RCV003871560]	likely benign	1	231270876	231270876	Human		name
404978887	CV3176001	single nucleotide variant	NM_014236.4(GNPAT):c.1321C>T (p.Leu441=)	not provided [RCV003880101]	likely benign	1	231270799	231270799	Human		name
405768724	CV3262153	single nucleotide variant	NM_014236.4(GNPAT):c.1056A>G (p.Arg352=)	Inborn genetic diseases [RCV004395543]	likely benign	1	231267680	231267680	Human	1	name
405869016	CV3400693	single nucleotide variant	NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV004576696]	likely pathogenic	1	231251138	231251138	Human	1	name , alternate_id
597758613	CV3715584	deletion	NM_014236.4(GNPAT):c.954del (p.Glu319fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV005017845]	likely pathogenic	1	231266306	231266306	Human	1	name , alternate_id
597935808	CV3764731	single nucleotide variant	NM_014236.4(GNPAT):c.1866A>G (p.Val622=)	not provided [RCV005117430]	likely benign	1	231275427	231275427	Human		name
597940141	CV3772080	single nucleotide variant	NM_014236.4(GNPAT):c.1851T>C (p.Ser617=)	not provided [RCV005118335]	likely benign	1	231275412	231275412	Human		name
597881185	CV3810352	single nucleotide variant	NM_014236.4(GNPAT):c.1161C>A (p.Thr387=)	not provided [RCV005149813]	likely benign	1	231267785	231267785	Human		name
597925715	CV3863530	single nucleotide variant	NM_014236.4(GNPAT):c.163T>C (p.Tyr55His)	not provided [RCV005205855]	uncertain significance	1	231251045	231251045	Human		name
13537225	CV498466	single nucleotide variant	NM_014236.4(GNPAT):c.1377C>T (p.Ser459=)	not provided [RCV000913127]\|not specified [RCV000610106]	benign\|likely benign	1	231270855	231270855	Human		name
13827540	CV578380	single nucleotide variant	NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn)	Rhizomelic chondrodysplasia punctata type 2 [RCV000714631]	uncertain significance	1	231260534	231260534	Human	1	name , alternate_id
13833842	CV585082	single nucleotide variant	NM_014236.4(GNPAT):c.1752C>T (p.Cys584=)	not provided [RCV000729214]	conflicting interpretations of pathogenicity\|uncertain significance	1	231275229	231275229	Human		name
14394184	CV609412	single nucleotide variant	NM_014236.4(GNPAT):c.1482A>G (p.Leu494=)	Rhizomelic chondrodysplasia punctata type 2 [RCV003617859]\|not provided [RCV000757341]	likely benign	1	231270960	231270960	Human	1	name , alternate_id
14394183	CV609414	single nucleotide variant	NM_014236.4(GNPAT):c.2031T>C (p.Thr677=)	GNPAT-related disorder [RCV003908068]\|not provided [RCV000757340]	likely benign	1	231277530	231277530	Human	1	name , trait , alternate_id
14396708	CV612526	duplication	NM_014236.4(GNPAT):c.838dup (p.Ile280fs)	not provided [RCV000761711]	likely pathogenic	1	231266077	231266078	Human		name
15179726	CV732262	single nucleotide variant	NM_014236.4(GNPAT):c.1638T>C (p.Ser546=)	not provided [RCV000907182]	likely benign	1	231273957	231273957	Human		name
28891804	CV863864	single nucleotide variant	NM_014236.4(GNPAT):c.1095T>C (p.Phe365=)	GNPAT-related disorder [RCV003938442]\|Rhizomelic chondrodysplasia punctata type 2 [RCV001100319]\|not provided [RCV001593267]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	231267719	231267719	Human	1	name , trait , alternate_id
28896664	CV863866	single nucleotide variant	NM_014236.4(GNPAT):c.1428C>T (p.Leu476=)	Rhizomelic chondrodysplasia punctata type 2 [RCV001102291]\|not provided [RCV003736977]	likely benign\|uncertain significance	1	231270906	231270906	Human	1	name , alternate_id
28881516	CV863867	single nucleotide variant	NM_014236.4(GNPAT):c.1668C>T (p.Ile556=)	Rhizomelic chondrodysplasia punctata type 2 [RCV001096887]	uncertain significance	1	231273987	231273987	Human	1	name , alternate_id
28881525	CV863869	single nucleotide variant	NM_014236.4(GNPAT):c.1713A>G (p.Gly571=)	Rhizomelic chondrodysplasia punctata type 2 [RCV001096889]\|not provided [RCV002067741]	likely benign\|uncertain significance	1	231274032	231274032	Human	1	name , alternate_id
126920931	CV1039886	single nucleotide variant	NM_014236.4(GNPAT):c.308T>C (p.Val103Ala)	not provided [RCV001374099]	uncertain significance	1	231260553	231260553	Human		name
150497572	CV1208779	microsatellite	NM_014236.4(GNPAT):c.1055+252_1055+253del	not provided [RCV001593996]	likely benign	1	231266657	231266658	Human		name
150477457	CV1262504	insertion	NM_014236.4(GNPAT):c.262-136_262-135insAT	not provided [RCV001685317]	benign	1	231260370	231260371	Human		name
150553203	CV1298239	single nucleotide variant	NM_014236.4(GNPAT):c.725T>A (p.Leu242His)	not provided [RCV001768853]	uncertain significance	1	231265740	231265740	Human		name
150542392	CV1314762	single nucleotide variant	NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV001782213]	likely pathogenic	1	231260543	231260543	Human	1	name , alternate_id
151760862	CV1343285	single nucleotide variant	NM_014236.4(GNPAT):c.311G>C (p.Ser104Thr)	Inborn genetic diseases [RCV004046948]\|not provided [RCV002024349]	uncertain significance	1	231260556	231260556	Human	1	name
151762899	CV1356918	single nucleotide variant	NM_014236.4(GNPAT):c.301G>A (p.Glu101Lys)	not provided [RCV001970396]	uncertain significance	1	231260546	231260546	Human		name
151802447	CV1366101	single nucleotide variant	NM_014236.4(GNPAT):c.536A>T (p.Asp179Val)	not provided [RCV001917836]	uncertain significance	1	231262820	231262820	Human		name
151849706	CV1368527	single nucleotide variant	NM_014236.4(GNPAT):c.964G>A (p.Gly322Arg)	Inborn genetic diseases [RCV004043091]\|not provided [RCV001978761]	uncertain significance	1	231266316	231266316	Human	1	name
151824804	CV1373336	single nucleotide variant	NM_014236.4(GNPAT):c.748G>A (p.Ala250Thr)	not provided [RCV001934492]	uncertain significance	1	231265763	231265763	Human		name
151719102	CV1397497	single nucleotide variant	NM_014236.4(GNPAT):c.829C>G (p.Leu277Val)	Inborn genetic diseases [RCV004988980]\|not provided [RCV001982775]	uncertain significance	1	231266070	231266070	Human	1	name
151848806	CV1402811	single nucleotide variant	NM_014236.4(GNPAT):c.838A>G (p.Ile280Val)	not provided [RCV001882326]	uncertain significance	1	231266079	231266079	Human		name
151879612	CV1411090	single nucleotide variant	NM_014236.4(GNPAT):c.311G>A (p.Ser104Asn)	not provided [RCV002019966]	uncertain significance	1	231260556	231260556	Human		name
151817227	CV1441127	single nucleotide variant	NM_014236.4(GNPAT):c.344G>A (p.Arg115His)	Inborn genetic diseases [RCV002560563]\|not provided [RCV001933792]	uncertain significance	1	231260589	231260589	Human	1	name
151844382	CV1457818	single nucleotide variant	NM_014236.4(GNPAT):c.365G>A (p.Cys122Tyr)	not provided [RCV001936509]	uncertain significance	1	231260610	231260610	Human		name
151787652	CV1510011	single nucleotide variant	NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys)	Rhizomelic chondrodysplasia punctata type 2 [RCV002484457]\|not provided [RCV001916497]	uncertain significance	1	231266158	231266158	Human	1	name , alternate_id
156358005	CV1925232	single nucleotide variant	NM_014236.4(GNPAT):c.299G>A (p.Arg100Gln)	not provided [RCV002651428]	uncertain significance	1	231260544	231260544	Human		name
156016827	CV2019104	single nucleotide variant	NM_014236.4(GNPAT):c.660G>T (p.Trp220Cys)	not provided [RCV002690808]	uncertain significance	1	231265384	231265384	Human		name
156240597	CV2053077	single nucleotide variant	NM_014236.4(GNPAT):c.616G>T (p.Ala206Ser)	Inborn genetic diseases [RCV004973652]\|not provided [RCV002791338]	uncertain significance	1	231265340	231265340	Human	1	name
155939503	CV2071793	single nucleotide variant	NM_014236.4(GNPAT):c.915G>C (p.Glu305Asp)	not provided [RCV002839310]	uncertain significance	1	231266156	231266156	Human		name
156315989	CV2104114	single nucleotide variant	NM_014236.4(GNPAT):c.355A>G (p.Ile119Val)	Inborn genetic diseases [RCV005351039]\|not provided [RCV002937450]	uncertain significance	1	231260600	231260600	Human	1	name
156309604	CV2150223	single nucleotide variant	NM_014236.4(GNPAT):c.422A>C (p.Glu141Ala)	not provided [RCV003028500]	uncertain significance	1	231260667	231260667	Human		name
8559582	CV21880	single nucleotide variant	NM_014236.4(GNPAT):c.632G>A (p.Arg211His)	Rhizomelic chondrodysplasia punctata type 2 [RCV000007243]\|not provided [RCV001388781]	pathogenic	1	231265356	231265356	Human	1	name , alternate_id
8559583	CV21881	single nucleotide variant	NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)	Rhizomelic chondrodysplasia punctata [RCV003234895]\|Rhizomelic chondrodysplasia punctata type 2 [RCV000007244]	pathogenic\|likely pathogenic	1	231265355	231265355	Human	2	name , alternate_id
8559586	CV21884	deletion	NM_014236.4(GNPAT):c.1575del (p.Phe525fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV000007247]\|not provided [RCV003555954]	pathogenic	1	231272364	231272364	Human	1	name , alternate_id
156156265	CV2238418	single nucleotide variant	NM_014236.4(GNPAT):c.944A>G (p.Lys315Arg)	Inborn genetic diseases [RCV002787204]	likely benign	1	231266296	231266296	Human	1	name
156008810	CV2294274	single nucleotide variant	NM_014236.4(GNPAT):c.570C>A (p.Asp190Glu)	Inborn genetic diseases [RCV002883910]	uncertain significance	1	231265294	231265294	Human	1	name
329374505	CV2464123	single nucleotide variant	NM_014236.4(GNPAT):c.842G>C (p.Ser281Thr)	Inborn genetic diseases [RCV003210828]	uncertain significance	1	231266083	231266083	Human	1	name
401899116	CV2783667	single nucleotide variant	NM_014236.4(GNPAT):c.643G>A (p.Gly215Ser)	Inborn genetic diseases [RCV003377300]	uncertain significance	1	231265367	231265367	Human	1	name
11580950	CV279738	single nucleotide variant	NM_014236.4(GNPAT):c.608T>A (p.Met203Lys)	Inborn genetic diseases [RCV003165803]\|Rhizomelic chondrodysplasia punctata type 2 [RCV000349677]	uncertain significance	1	231265332	231265332	Human	2	name , alternate_id
11581967	CV279739	single nucleotide variant	NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro)	Inborn genetic diseases [RCV002520459]\|Rhizomelic chondrodysplasia punctata type 2 [RCV000392240]	uncertain significance	1	231265721	231265721	Human	2	name , alternate_id
11580240	CV281024	single nucleotide variant	NM_014236.4(GNPAT):c.476T>C (p.Leu159Pro)	Rhizomelic chondrodysplasia punctata type 2 [RCV000327468]	uncertain significance	1	231262760	231262760	Human	1	name , alternate_id
401942918	CV2836049	single nucleotide variant	NM_014236.4(GNPAT):c.913G>T (p.Glu305Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468288]	likely pathogenic	1	231266154	231266154	Human	1	name , alternate_id
401942931	CV2836053	deletion	NM_014236.4(GNPAT):c.1621del (p.Tyr541fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468291]	likely pathogenic	1	231273939	231273939	Human	1	name , alternate_id
401942946	CV2836056	single nucleotide variant	NM_014236.4(GNPAT):c.487C>T (p.Arg163Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468294]\|not provided [RCV003720917]	pathogenic	1	231262771	231262771	Human	1	name , alternate_id
401942951	CV2836057	deletion	NM_014236.4(GNPAT):c.1121del (p.Glu374fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468295]	likely pathogenic	1	231267745	231267745	Human	1	name , alternate_id
401941396	CV2836061	deletion	NM_014236.4(GNPAT):c.1387del (p.Glu463fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV003461713]	likely pathogenic	1	231270864	231270864	Human	1	name , alternate_id
405227419	CV2898440	deletion	NM_014236.4(GNPAT):c.1428del (p.Met477fs)	not provided [RCV003554909]	pathogenic	1	231270906	231270906	Human		name
405241002	CV3176853	single nucleotide variant	NM_014236.4(GNPAT):c.604C>T (p.Arg202Ter)	not provided [RCV003867291]	pathogenic	1	231265328	231265328	Human		name
405768766	CV3262159	single nucleotide variant	NM_014236.4(GNPAT):c.392A>C (p.Lys131Thr)	Inborn genetic diseases [RCV004395549]	uncertain significance	1	231260637	231260637	Human	1	name
405768772	CV3262160	single nucleotide variant	NM_014236.4(GNPAT):c.652C>G (p.Leu218Val)	Inborn genetic diseases [RCV004395550]\|not provided [RCV005104453]	uncertain significance	1	231265376	231265376	Human	1	name
405768779	CV3262161	single nucleotide variant	NM_014236.4(GNPAT):c.724C>G (p.Leu242Val)	Inborn genetic diseases [RCV004395551]	uncertain significance	1	231265739	231265739	Human	1	name
405869019	CV3400694	deletion	NM_014236.4(GNPAT):c.1712del (p.Gly571fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV004576697]	likely pathogenic	1	231274030	231274030	Human	1	name , alternate_id
405869024	CV3400695	single nucleotide variant	NM_014236.4(GNPAT):c.805A>T (p.Lys269Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV004576698]	likely pathogenic	1	231266046	231266046	Human	1	name , alternate_id
408394210	CV3521824	deletion	NM_014236.4(GNPAT):c.2010del (p.Pro671fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV004764623]	uncertain significance	1	231277509	231277509	Human	1	name , alternate_id
12844339	CV364945	single nucleotide variant	NM_014236.4(GNPAT):c.605G>A (p.Arg202Gln)	not provided [RCV000437818]	uncertain significance	1	231265329	231265329	Human		name
597680509	CV3678304	single nucleotide variant	NM_014236.4(GNPAT):c.695G>A (p.Arg232Gln)	Inborn genetic diseases [RCV004982669]	uncertain significance	1	231265419	231265419	Human	1	name
597680515	CV3678305	single nucleotide variant	NM_014236.4(GNPAT):c.418A>G (p.Asn140Asp)	Inborn genetic diseases [RCV004982670]	uncertain significance	1	231260663	231260663	Human	1	name
598174831	CV3890932	single nucleotide variant	NM_014236.4(GNPAT):c.725T>C (p.Leu242Pro)	not provided [RCV005251785]	uncertain significance	1	231265740	231265740	Human		name
13531334	CV498296	single nucleotide variant	NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln)	Inborn genetic diseases [RCV002529488]\|Rhizomelic chondrodysplasia punctata type 2 [RCV001098552]\|not provided [RCV000969161]	likely benign\|uncertain significance	1	231265353	231265353	Human	2	name , alternate_id
13532423	CV511245	single nucleotide variant	NM_014236.4(GNPAT):c.483T>G (p.Ser161Arg)	Inborn genetic diseases [RCV000624183]\|not provided [RCV002532824]	uncertain significance	1	231262767	231262767	Human	1	name
14704021	CV654202	single nucleotide variant	NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV000825526]	likely pathogenic	1	231262726	231262726	Human	1	name , alternate_id
15015247	CV679852	single nucleotide variant	NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys)	Rhizomelic chondrodysplasia punctata type 2 [RCV000853406]\|not specified [RCV002469307]	likely pathogenic\|uncertain significance	1	231265757	231265757	Human	1	name , alternate_id
28891800	CV863863	single nucleotide variant	NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr)	Rhizomelic chondrodysplasia punctata type 2 [RCV001100318]\|not provided [RCV001856364]	uncertain significance	1	231266340	231266340	Human	1	name , alternate_id
126732544	CV987296	single nucleotide variant	NM_014236.4(GNPAT):c.898G>C (p.Val300Leu)	not provided [RCV001304103]	uncertain significance	1	231266139	231266139	Human		name
126766808	CV1002583	single nucleotide variant	NM_014236.4(GNPAT):c.1190G>A (p.Arg397Gln)	not provided [RCV001320596]	uncertain significance	1	231267814	231267814	Human		name
126773895	CV1023039	single nucleotide variant	NM_014236.4(GNPAT):c.1378G>A (p.Gly460Arg)	not provided [RCV001346601]	uncertain significance	1	231270856	231270856	Human		name
126911176	CV1039887	single nucleotide variant	NM_014236.4(GNPAT):c.1543C>T (p.Arg515Cys)	Inborn genetic diseases [RCV002548615]\|not provided [RCV001369102]	uncertain significance	1	231272332	231272332	Human	1	name
126922325	CV1039888	single nucleotide variant	NM_014236.4(GNPAT):c.1978A>T (p.Thr660Ser)	not provided [RCV001364540]	uncertain significance	1	231276175	231276175	Human		name
151351733	CV1321948	single nucleotide variant	NM_014236.4(GNPAT):c.1084A>T (p.Met362Leu)	not provided [RCV001806618]	uncertain significance	1	231267708	231267708	Human		name
151723323	CV1356753	single nucleotide variant	NM_014236.4(GNPAT):c.1810G>A (p.Val604Ile)	Rhizomelic chondrodysplasia punctata type 2 [RCV003134304]\|not provided [RCV001966276]	uncertain significance	1	231275287	231275287	Human	1	name , alternate_id
151746046	CV1361126	single nucleotide variant	NM_014236.4(GNPAT):c.1666A>C (p.Ile556Leu)	not provided [RCV001871527]	uncertain significance	1	231273985	231273985	Human		name
151800257	CV1403972	single nucleotide variant	NM_014236.4(GNPAT):c.1837G>A (p.Asp613Asn)	not provided [RCV001973842]	uncertain significance	1	231275314	231275314	Human		name
151763152	CV1407493	single nucleotide variant	NM_014236.4(GNPAT):c.1544G>T (p.Arg515Leu)	not provided [RCV002044509]	uncertain significance	1	231272333	231272333	Human		name
151892964	CV1411709	single nucleotide variant	NM_014236.4(GNPAT):c.1940A>G (p.Asn647Ser)	not provided [RCV001944649]	uncertain significance	1	231276137	231276137	Human		name
151883117	CV1411778	single nucleotide variant	NM_014236.4(GNPAT):c.1874C>T (p.Ser625Phe)	not provided [RCV001962060]	uncertain significance	1	231275435	231275435	Human		name
151840767	CV1415435	single nucleotide variant	NM_014236.4(GNPAT):c.1544G>A (p.Arg515His)	Inborn genetic diseases [RCV004631832]\|not provided [RCV001921508]	uncertain significance	1	231272333	231272333	Human	1	name
151761953	CV1423575	single nucleotide variant	NM_014236.4(GNPAT):c.1970C>G (p.Pro657Arg)	not provided [RCV002007975]	uncertain significance	1	231276167	231276167	Human		name
151743150	CV1431713	single nucleotide variant	NM_014236.4(GNPAT):c.1647A>G (p.Ile549Met)	not provided [RCV001926667]	uncertain significance	1	231273966	231273966	Human		name
151735146	CV1440610	single nucleotide variant	NM_014236.4(GNPAT):c.1036T>C (p.Ser346Pro)	Inborn genetic diseases [RCV003289199]\|not provided [RCV001911304]	likely benign\|uncertain significance	1	231266388	231266388	Human	1	name
151768047	CV1450740	single nucleotide variant	NM_014236.4(GNPAT):c.1451A>G (p.Gln484Arg)	Inborn genetic diseases [RCV002560517]\|not provided [RCV001929245]	uncertain significance	1	231270929	231270929	Human	1	name
151801978	CV1458791	single nucleotide variant	NM_014236.4(GNPAT):c.1060A>G (p.Ile354Val)	not provided [RCV002028181]	uncertain significance	1	231267684	231267684	Human		name
151818922	CV1482158	single nucleotide variant	NM_014236.4(GNPAT):c.1132A>G (p.Ile378Val)	not provided [RCV002029694]	uncertain significance	1	231267756	231267756	Human		name
151728020	CV1486499	single nucleotide variant	NM_014236.4(GNPAT):c.1499A>G (p.Gln500Arg)	Inborn genetic diseases [RCV004988847]\|not provided [RCV001891951]	uncertain significance	1	231270977	231270977	Human	1	name
151731295	CV1489754	single nucleotide variant	NM_014236.4(GNPAT):c.1553G>A (p.Arg518His)	Inborn genetic diseases [RCV002553597]\|not provided [RCV001910896]	uncertain significance	1	231272342	231272342	Human	1	name
151739049	CV1492267	single nucleotide variant	NM_014236.4(GNPAT):c.1532A>G (p.Tyr511Cys)	not provided [RCV002042050]	uncertain significance	1	231272321	231272321	Human		name
151771941	CV1502760	single nucleotide variant	NM_014236.4(GNPAT):c.1918G>A (p.Val640Ile)	not provided [RCV001896424]	uncertain significance	1	231275479	231275479	Human		name
151815544	CV1507715	single nucleotide variant	NM_014236.4(GNPAT):c.1294G>A (p.Glu432Lys)	Inborn genetic diseases [RCV003355709]\|not provided [RCV001954245]	uncertain significance	1	231270772	231270772	Human	1	name
151752731	CV1508758	single nucleotide variant	NM_014236.4(GNPAT):c.1675A>G (p.Thr559Ala)	not provided [RCV002043452]	uncertain significance	1	231273994	231273994	Human		name
152153339	CV1579292	single nucleotide variant	NM_014236.4(GNPAT):c.1949G>A (p.Cys650Tyr)	Inborn genetic diseases [RCV003081063]\|not provided [RCV002158519]	likely benign	1	231276146	231276146	Human	1	name
9686987	CV171319	single nucleotide variant	NM_014236.4(GNPAT):c.1935G>C (p.Lys645Asn)	Prostate cancer [RCV000149206]	uncertain significance	1	231275496	231275496	Human	2	name
156014952	CV1885104	single nucleotide variant	NM_014236.4(GNPAT):c.1211C>T (p.Ala404Val)	not provided [RCV003077308]	uncertain significance	1	231267835	231267835	Human		name
156367096	CV1925600	single nucleotide variant	NM_014236.4(GNPAT):c.1744A>G (p.Ile582Val)	not provided [RCV002633095]	uncertain significance	1	231275221	231275221	Human		name
156211747	CV1983434	single nucleotide variant	NM_014236.4(GNPAT):c.1158G>A (p.Trp386Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV004571191]\|not provided [RCV002626102]	pathogenic\|likely pathogenic	1	231267782	231267782	Human	1	name , alternate_id
156367192	CV2010843	single nucleotide variant	NM_014236.4(GNPAT):c.1720A>G (p.Lys574Glu)	not provided [RCV002676645]	uncertain significance	1	231274039	231274039	Human		name
156081416	CV2050161	single nucleotide variant	NM_014236.4(GNPAT):c.1019G>T (p.Gly340Val)	not provided [RCV002823866]	uncertain significance	1	231266371	231266371	Human		name
156099810	CV2132483	single nucleotide variant	NM_014236.4(GNPAT):c.1645A>G (p.Ile549Val)	Inborn genetic diseases [RCV004068358]\|not provided [RCV002979940]	uncertain significance	1	231273964	231273964	Human	1	name
156078436	CV2173651	single nucleotide variant	NM_014236.4(GNPAT):c.2008A>T (p.Thr670Ser)	not provided [RCV003053945]	uncertain significance	1	231277507	231277507	Human		name
156116211	CV2221650	single nucleotide variant	NM_014236.4(GNPAT):c.1909A>T (p.Arg637Trp)	Inborn genetic diseases [RCV002761999]	uncertain significance	1	231275470	231275470	Human	1	name
156113752	CV2224932	single nucleotide variant	NM_014236.4(GNPAT):c.1994T>C (p.Met665Thr)	Inborn genetic diseases [RCV002761849]	uncertain significance	1	231276191	231276191	Human	1	name
156243580	CV2242942	single nucleotide variant	NM_014236.4(GNPAT):c.1676C>G (p.Thr559Arg)	Inborn genetic diseases [RCV002768413]	uncertain significance	1	231273995	231273995	Human	1	name
156244921	CV2283382	single nucleotide variant	NM_014236.4(GNPAT):c.1709T>C (p.Val570Ala)	Inborn genetic diseases [RCV002854473]	uncertain significance	1	231274028	231274028	Human	1	name
243063688	CV2405140	single nucleotide variant	NM_014236.4(GNPAT):c.1502T>A (p.Met501Lys)	Rhizomelic chondrodysplasia punctata type 2 [RCV003225839]	uncertain significance	1	231270980	231270980	Human	1	name , alternate_id
401741247	CV2690438	single nucleotide variant	NM_014236.4(GNPAT):c.1057T>A (p.Tyr353Asn)	Inborn genetic diseases [RCV003274559]	uncertain significance	1	231267681	231267681	Human	1	name
11581166	CV279463	single nucleotide variant	NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln)	Rhizomelic chondrodysplasia punctata type 2 [RCV000358498]\|not provided [RCV000757344]	uncertain significance	1	231266383	231266383	Human	1	name , alternate_id
11581932	CV279465	single nucleotide variant	NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser)	Rhizomelic chondrodysplasia punctata type 2 [RCV000390788]\|not provided [RCV001511741]	benign\|likely benign\|uncertain significance	1	231266395	231266395	Human	1	name , alternate_id
11656087	CV279480	single nucleotide variant	NM_014236.4(GNPAT):c.1424T>C (p.Leu475Pro)	Rhizomelic chondrodysplasia punctata type 2 [RCV000330649]	uncertain significance	1	231270902	231270902	Human	1	name , alternate_id
11580768	CV279487	single nucleotide variant	NM_014236.4(GNPAT):c.2023C>T (p.Pro675Ser)	Rhizomelic chondrodysplasia punctata type 2 [RCV000343724]	uncertain significance	1	231277522	231277522	Human	1	name , alternate_id
11651856	CV279748	single nucleotide variant	NM_014236.4(GNPAT):c.1030C>T (p.Arg344Trp)	Rhizomelic chondrodysplasia punctata type 2 [RCV000301258]	uncertain significance	1	231266382	231266382	Human	1	name , alternate_id
11581327	CV279749	single nucleotide variant	NM_014236.4(GNPAT):c.1307C>T (p.Pro436Leu)	Inborn genetic diseases [RCV002520461]\|Rhizomelic chondrodysplasia punctata type 2 [RCV000365558]\|not provided [RCV001850545]	uncertain significance	1	231270785	231270785	Human	2	name , alternate_id
11581966	CV281025	single nucleotide variant	NM_014236.4(GNPAT):c.1007C>A (p.Ser336Tyr)	Rhizomelic chondrodysplasia punctata type 2 [RCV000392238]\|not provided [RCV002520460]	uncertain significance	1	231266359	231266359	Human	1	name , alternate_id
11581238	CV281026	single nucleotide variant	NM_014236.4(GNPAT):c.1072C>A (p.Gln358Lys)	Rhizomelic chondrodysplasia punctata type 2 [RCV000361981]\|not provided [RCV001850544]	uncertain significance	1	231267696	231267696	Human	1	name , alternate_id
11580457	CV281033	single nucleotide variant	NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile)	Rhizomelic chondrodysplasia punctata type 2 [RCV000333942]\|not provided [RCV000757337]\|not specified [RCV000609601]	benign\|likely benign	1	231270961	231270961	Human	1	name , alternate_id
11582137	CV281034	single nucleotide variant	NM_014236.4(GNPAT):c.1648C>G (p.Gln550Glu)	Rhizomelic chondrodysplasia punctata type 2 [RCV000399423]\|not provided [RCV002520462]	uncertain significance	1	231273967	231273967	Human	1	name , alternate_id
11579499	CV281170	single nucleotide variant	NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val)	Inborn genetic diseases [RCV002520463]\|Rhizomelic chondrodysplasia punctata type 2 [RCV001001730]\|not provided [RCV000960456]	likely benign\|uncertain significance	1	231275453	231275453	Human	2	name , alternate_id
401942904	CV2836044	duplication	NM_014236.4(GNPAT):c.1058dup (p.Tyr353Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468285]	likely pathogenic	1	231267681	231267682	Human	1	name , alternate_id
401941393	CV2836046	duplication	NM_014236.4(GNPAT):c.1622dup (p.Tyr541Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV003461710]	likely pathogenic	1	231273940	231273941	Human	1	name , alternate_id
401943905	CV2836055	single nucleotide variant	NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468293]	likely pathogenic	1	231275235	231275235	Human	1	name , alternate_id
401941395	CV2836058	single nucleotide variant	NM_014236.4(GNPAT):c.1297G>T (p.Glu433Ter)	Rhizomelic chondrodysplasia punctata type 2 [RCV003461712]	likely pathogenic	1	231270775	231270775	Human	1	name , alternate_id
405044936	CV2859862	single nucleotide variant	NM_014236.4(GNPAT):c.1795C>T (p.Gln599Ter)	not provided [RCV003579383]	pathogenic	1	231275272	231275272	Human		name
402508811	CV2998319	single nucleotide variant	NM_014236.4(GNPAT):c.1857T>A (p.Cys619Ter)	not provided [RCV003689337]	pathogenic	1	231275418	231275418	Human		name
405161431	CV3125027	single nucleotide variant	NM_014236.4(GNPAT):c.2022A>C (p.Lys674Asn)	not provided [RCV003818298]	benign	1	231277521	231277521	Human		name
405768732	CV3262154	single nucleotide variant	NM_014236.4(GNPAT):c.1068G>C (p.Gln356His)	Inborn genetic diseases [RCV004395544]	uncertain significance	1	231267692	231267692	Human	1	name
405768739	CV3262155	single nucleotide variant	NM_014236.4(GNPAT):c.1200G>A (p.Met400Ile)	Inborn genetic diseases [RCV004395545]	uncertain significance	1	231267824	231267824	Human	1	name
405768747	CV3262156	single nucleotide variant	NM_014236.4(GNPAT):c.1426C>T (p.Leu476Phe)	Inborn genetic diseases [RCV004395546]	uncertain significance	1	231270904	231270904	Human	1	name
405768759	CV3262158	single nucleotide variant	NM_014236.4(GNPAT):c.1751G>A (p.Cys584Tyr)	Inborn genetic diseases [RCV004395548]	uncertain significance	1	231275228	231275228	Human	1	name
597680495	CV3678300	single nucleotide variant	NM_014236.4(GNPAT):c.1934A>T (p.Lys645Met)	Inborn genetic diseases [RCV004982666]	uncertain significance	1	231275495	231275495	Human	1	name
597680498	CV3678301	single nucleotide variant	NM_014236.4(GNPAT):c.1367A>G (p.Lys456Arg)	Inborn genetic diseases [RCV004982667]	uncertain significance	1	231270845	231270845	Human	1	name
597680504	CV3678302	single nucleotide variant	NM_014236.4(GNPAT):c.1969C>A (p.Pro657Thr)	Inborn genetic diseases [RCV004982668]	uncertain significance	1	231276166	231276166	Human	1	name
597847951	CV3736798	single nucleotide variant	NM_014236.4(GNPAT):c.1174G>C (p.Val392Leu)	not provided [RCV005065957]	uncertain significance	1	231267798	231267798	Human		name
598127587	CV3882759	single nucleotide variant	NM_014236.4(GNPAT):c.1336G>T (p.Ala446Ser)	Rhizomelic chondrodysplasia punctata type 2 [RCV005234290]	uncertain significance	1	231270814	231270814	Human	1	name , alternate_id
598232818	CV3974415	single nucleotide variant	NM_014236.4(GNPAT):c.1472G>A (p.Arg491His)	Inborn genetic diseases [RCV005342659]	uncertain significance	1	231270950	231270950	Human	1	name
598264269	CV3974416	single nucleotide variant	NM_014236.4(GNPAT):c.1462A>G (p.Ile488Val)	Inborn genetic diseases [RCV005348815]	likely benign	1	231270940	231270940	Human	1	name
598264272	CV3974417	single nucleotide variant	NM_014236.4(GNPAT):c.1993A>G (p.Met665Val)	Inborn genetic diseases [RCV005348816]	uncertain significance	1	231276190	231276190	Human	1	name
598232823	CV3974418	single nucleotide variant	NM_014236.4(GNPAT):c.1450C>G (p.Gln484Glu)	Inborn genetic diseases [RCV005342660]	uncertain significance	1	231270928	231270928	Human	1	name
8569081	CV44134	single nucleotide variant	NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)	Rhizomelic chondrodysplasia punctata type 2 [RCV000029140]\|not provided [RCV000676053]\|not specified [RCV000244403]	pathogenic\|benign\|likely benign	1	231272345	231272345	Human	1	name , alternate_id
14394182	CV609411	single nucleotide variant	NM_014236.4(GNPAT):c.1003C>T (p.Arg335Ter)	GNPAT-related disorder [RCV003411694]\|not provided [RCV000757339]	likely pathogenic	1	231266355	231266355	Human	1	name , trait , alternate_id
14394185	CV609413	single nucleotide variant	NM_014236.4(GNPAT):c.1687A>G (p.Asn563Asp)	not provided [RCV000757342]	uncertain significance	1	231274006	231274006	Human		name
28896661	CV863865	single nucleotide variant	NM_014236.4(GNPAT):c.1353C>G (p.Asp451Glu)	Rhizomelic chondrodysplasia punctata type 2 [RCV001102290]	uncertain significance	1	231270831	231270831	Human	1	name , alternate_id
28881521	CV863868	single nucleotide variant	NM_014236.4(GNPAT):c.1678G>A (p.Glu560Lys)	Rhizomelic chondrodysplasia punctata type 2 [RCV001096888]\|not provided [RCV001856309]	uncertain significance	1	231273997	231273997	Human	1	name , alternate_id
41405511	CV981312	single nucleotide variant	NM_014236.4(GNPAT):c.2021A>T (p.Lys674Ile)	Rhizomelic chondrodysplasia punctata type 2 [RCV001286713]\|not provided [RCV001871687]	uncertain significance	1	231277520	231277520	Human	1	name , alternate_id
126754635	CV987297	single nucleotide variant	NM_014236.4(GNPAT):c.1052C>A (p.Pro351Gln)	not provided [RCV001298171]	uncertain significance	1	231266404	231266404	Human		name
126756399	CV987298	single nucleotide variant	NM_014236.4(GNPAT):c.1685G>A (p.Gly562Glu)	not provided [RCV001308101]	uncertain significance	1	231274004	231274004	Human		name
126756200	CV987299	single nucleotide variant	NM_014236.4(GNPAT):c.1844G>A (p.Gly615Asp)	not provided [RCV001298518]	uncertain significance	1	231275405	231275405	Human		name
405869032	CV3400697	deletion	NM_014236.4(GNPAT):c.290_291del (p.Asp97fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV004576700]	likely pathogenic	1	231260535	231260536	Human	1	name , alternate_id
8559584	CV21882	duplication	NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV000007245]\|not provided [RCV003555953]	pathogenic	1	231266089	231266090	Human	1	name , alternate_id
401942909	CV2836047	deletion	NM_014236.4(GNPAT):c.807_808del (p.Glu271fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468286]	likely pathogenic	1	231266046	231266047	Human	1	name , alternate_id
401942923	CV2836050	deletion	NM_014236.4(GNPAT):c.874_877del (p.Leu292fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468289]	likely pathogenic	1	231266114	231266117	Human	1	name , alternate_id
405869012	CV3400692	deletion	NM_014236.4(GNPAT):c.876_877del (p.Tyr293fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV004576695]	likely pathogenic	1	231266116	231266117	Human	1	name , alternate_id
405869028	CV3400696	indel	NM_014236.4(GNPAT):c.544delinsTT (p.Val182fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV004576699]	likely pathogenic	1	231262828	231262828	Human		name , alternate_id
127255994	CV1058665	microsatellite	NM_014236.4(GNPAT):c.1583_1586del (p.Leu528fs)	Rhizomelic chondrodysplasia punctata [RCV001526991]\|not provided [RCV001386472]	pathogenic\|likely pathogenic	1	231272367	231272370	Human		name
405135183	CV2962938	duplication	NM_014236.4(GNPAT):c.1230_1231dup (p.Trp411fs)	not provided [RCV003668728]	pathogenic	1	231267852	231267853	Human		name
405038794	CV3013523	deletion	NM_014236.4(GNPAT):c.1220_1233del (p.Glu407fs)	not provided [RCV003696160]	pathogenic	1	231267841	231267854	Human		name
8569083	CV44136	deletion	NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs)	Rhizomelic chondrodysplasia punctata type 2 [RCV000029142]	pathogenic	1	231270907	231270908	Human	1	name , alternate_id
151867678	CV1491869	deletion	NM_014236.4(GNPAT):c.51_56del (p.Pro18_Ser19del)	not provided [RCV002018550]	uncertain significance	1	231241425	231241430	Human		name
151714024	CV1451266	deletion	NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer)	Rhizomelic chondrodysplasia punctata type 2 [RCV004571718]\|not provided [RCV002002568]	pathogenic\|likely pathogenic	1	231270961	231270961	Human	1	name , alternate_id
401942957	CV2836059	deletion	NM_014236.4(GNPAT):c.1482del (p.Leu494_Val495insTer)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468296]	likely pathogenic	1	231270960	231270960	Human	1	name , alternate_id
405226303	CV2989854	deletion	NM_014236.4(GNPAT):c.1763del (p.Leu587_Leu588insTer)	not provided [RCV003681402]	pathogenic	1	231275237	231275237	Human		name
401942935	CV2836054	deletion	NM_014236.4(GNPAT):c.1718_1719del (p.Leu572_Phe573insTer)	Rhizomelic chondrodysplasia punctata type 2 [RCV003468292]	likely pathogenic	1	231274036	231274037	Human	1	name , alternate_id

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