Npr2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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620 records found for search term Npr2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28885115	CV902028	single nucleotide variant	NM_003995.4(NPR2):c.*2C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV001168678]	uncertain significance	9	35809447	35809447	Human	1	name
150471410	CV1270070	single nucleotide variant	NM_003995.4(NPR2):c.-218C>T	not provided [RCV001695358]	benign	9	35792191	35792191	Human		name
28885117	CV902029	single nucleotide variant	NM_003995.4(NPR2):c.*270A>T	Acromesomelic dysplasia 1, Maroteaux type [RCV001168679]	uncertain significance	9	35809715	35809715	Human	1	name
151890126	CV1394721	single nucleotide variant	NM_003995.4(NPR2):c.988-6C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV001888330]	uncertain significance	9	35800016	35800016	Human	1	name
151874210	CV1510331	single nucleotide variant	NM_003995.4(NPR2):c.873+8T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV001940192]	likely benign	9	35794111	35794111	Human	1	name
10052138	CV194387	single nucleotide variant	NM_003995.4(NPR2):c.988-7C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV003765098]\|not provided [RCV000178204]	likely benign\|uncertain significance	9	35800015	35800015	Human	1	name
156056202	CV2102030	single nucleotide variant	NM_003995.4(NPR2):c.988-4C>G	Acromesomelic dysplasia 1, Maroteaux type [RCV002886335]	likely benign	9	35800018	35800018	Human	1	name
156043905	CV2157526	single nucleotide variant	NM_003995.4(NPR2):c.987+9A>T	Acromesomelic dysplasia 1, Maroteaux type [RCV003019163]	likely benign	9	35799740	35799740	Human	1	name
597928334	CV3878892	single nucleotide variant	NM_003995.4(NPR2):c.874-9C>G	Acromesomelic dysplasia 1, Maroteaux type [RCV005224551]	likely benign	9	35799609	35799609	Human	1	name
13475843	CV459543	single nucleotide variant	NM_003995.4(NPR2):c.987+1G>C	Acromesomelic dysplasia 1, Maroteaux type [RCV000526471]	likely pathogenic	9	35799732	35799732	Human	1	name
13504289	CV460088	single nucleotide variant	NM_003995.4(NPR2):c.668-4C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV000526583]	benign	9	35793894	35793894	Human	1	name
13530975	CV511839	single nucleotide variant	NM_003995.4(NPR2):c.668-1G>C	Inborn genetic diseases [RCV000622938]	likely pathogenic	9	35793897	35793897	Human	1	name
40886391	CV861279	single nucleotide variant	NM_003995.4(NPR2):c.873+3A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV001264760]	uncertain significance	9	35794106	35794106	Human	1	name
127248885	CV1055863	single nucleotide variant	NM_003995.4(NPR2):c.1557+1G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV001378048]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001535596]	likely pathogenic\|not provided	9	35801764	35801764	Human	1	name
127288575	CV1140563	single nucleotide variant	NM_003995.4(NPR2):c.1815+3G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV001495297]	likely benign	9	35802610	35802610	Human	1	name
151347957	CV1325050	single nucleotide variant	NM_003995.4(NPR2):c.1710+3A>G	Short stature [RCV001813605]	likely pathogenic	9	35802286	35802286	Human	2	name
151756296	CV1498993	single nucleotide variant	NM_003995.4(NPR2):c.1123+5T>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002023877]	uncertain significance	9	35800162	35800162	Human	1	name
152080382	CV1550117	single nucleotide variant	NM_003995.4(NPR2):c.667+11C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002192947]	likely benign	9	35793086	35793086	Human	1	name
152168937	CV1598345	single nucleotide variant	NM_003995.4(NPR2):c.1124-7G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002142620]	likely benign	9	35800382	35800382	Human	1	name
152038160	CV1625043	single nucleotide variant	NM_003995.4(NPR2):c.2519+9T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV002205932]	benign	9	35806547	35806547	Human	1	name
155941604	CV2119891	single nucleotide variant	NM_003995.4(NPR2):c.2520-3T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV002971320]\|NPR2-related disorder [RCV004536490]	likely benign\|uncertain significance	9	35807020	35807020	Human	2	name , trait , alternate_id
156148083	CV2175166	single nucleotide variant	NM_003995.4(NPR2):c.1219-3C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV003040277]	uncertain significance	9	35800706	35800706	Human	1	name
401798497	CV2741471	single nucleotide variant	NM_003995.4(NPR2):c.1218+4A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV003328129]\|Short stature with nonspecific skeletal abnormalities [RCV003322689]	likely pathogenic\|uncertain significance	9	35800487	35800487	Human	1	name
402523374	CV3086654	single nucleotide variant	NM_003995.4(NPR2):c.873+10G>C	Acromesomelic dysplasia 1, Maroteaux type [RCV003781271]	likely benign	9	35794113	35794113	Human	1	name
402513584	CV3089453	single nucleotide variant	NM_003995.4(NPR2):c.2712+9T>G	Acromesomelic dysplasia 1, Maroteaux type [RCV003780486]	likely benign	9	35807407	35807407	Human	1	name
405030615	CV3092596	single nucleotide variant	NM_003995.4(NPR2):c.1558-6C>G	Acromesomelic dysplasia 1, Maroteaux type [RCV003786107]	likely benign	9	35801920	35801920	Human	1	name
404988966	CV3097140	single nucleotide variant	NM_003995.4(NPR2):c.1123+1G>C	Acromesomelic dysplasia 1, Maroteaux type [RCV003792529]	likely pathogenic	9	35800158	35800158	Human	1	name
405175256	CV3101046	single nucleotide variant	NM_003995.4(NPR2):c.1219-5T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV003803432]	likely benign	9	35800704	35800704	Human	1	name
405158347	CV3109464	single nucleotide variant	NM_003995.4(NPR2):c.1436+9T>G	Acromesomelic dysplasia 1, Maroteaux type [RCV003801988]	likely benign	9	35801163	35801163	Human	1	name
405108363	CV3112298	single nucleotide variant	NM_003995.4(NPR2):c.1888-3C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV003813141]	uncertain significance	9	35805508	35805508	Human	1	name
11605550	CV318597	single nucleotide variant	NM_003995.4(NPR2):c.873+13C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV000321234]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002058801]	benign\|likely benign\|uncertain significance	9	35794116	35794116	Human	1	name
405264287	CV3189917	single nucleotide variant	NM_003995.4(NPR2):c.1436+1G>T	Inborn genetic diseases [RCV004953646]\|NPR2-related disorder [RCV004534452]	pathogenic\|likely pathogenic	9	35801155	35801155	Human	1	name , trait , alternate_id
596927602	CV3532634	single nucleotide variant	NM_003995.4(NPR2):c.2519+3G>C	not provided [RCV004778732]	uncertain significance	9	35806541	35806541	Human		name
597834949	CV3864399	single nucleotide variant	NM_003995.4(NPR2):c.1351+8T>G	Acromesomelic dysplasia 1, Maroteaux type [RCV005210035]	uncertain significance	9	35800849	35800849	Human	1	name
597838069	CV3866922	single nucleotide variant	NM_003995.4(NPR2):c.2643+7G>T	Acromesomelic dysplasia 1, Maroteaux type [RCV005225914]	likely benign	9	35807153	35807153	Human	1	name
597867794	CV3869349	single nucleotide variant	NM_003995.4(NPR2):c.1557+6C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV005215279]	uncertain significance	9	35801769	35801769	Human	1	name
597855100	CV3870598	single nucleotide variant	NM_003995.4(NPR2):c.2887+8T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV005228799]	likely benign	9	35808691	35808691	Human	1	name
597889022	CV3871255	single nucleotide variant	NM_003995.4(NPR2):c.987+10T>G	Acromesomelic dysplasia 1, Maroteaux type [RCV005218587]	likely benign	9	35799741	35799741	Human	1	name
597891390	CV3871730	single nucleotide variant	NM_003995.4(NPR2):c.668-12A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV005218899]	likely benign	9	35793886	35793886	Human	1	name
597926870	CV3874046	single nucleotide variant	NM_003995.4(NPR2):c.2372+7G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV005224318]	likely benign	9	35806240	35806240	Human	1	name
13810293	CV563263	single nucleotide variant	NM_003995.4(NPR2):c.2713-2A>T	Acromesomelic dysplasia 1, Maroteaux type [RCV000702502]	likely pathogenic	9	35808507	35808507	Human	1	name
14693371	CV620811	single nucleotide variant	NM_003995.4(NPR2):c.1815+2T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV000778883]	uncertain significance	9	35802609	35802609	Human		name
15154003	CV777818	single nucleotide variant	NM_003995.4(NPR2):c.987+10T>A	Acromesomelic dysplasia 1, Maroteaux type [RCV000946199]	likely benign	9	35799741	35799741	Human	1	name
15131397	CV779425	single nucleotide variant	NM_003995.4(NPR2):c.2643+7G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002066383]	likely benign	9	35807153	35807153	Human	1	name
40888300	CV861262	single nucleotide variant	NM_003995.4(NPR2):c.1887+2T>A	Acromesomelic dysplasia 1, Maroteaux type [RCV001263189]	pathogenic	9	35802805	35802805	Human	1	name
28887530	CV903402	single nucleotide variant	NM_003995.4(NPR2):c.1437-3C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV001169367]	uncertain significance	9	35801640	35801640	Human	1	name
28887535	CV903403	single nucleotide variant	NM_003995.4(NPR2):c.1711-9T>G	Acromesomelic dysplasia 1, Maroteaux type [RCV001169369]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003769826]	likely benign\|uncertain significance	9	35802494	35802494	Human	1	name
28879169	CV903405	single nucleotide variant	NM_003995.4(NPR2):c.2519+3G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV001166962]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002558641]	uncertain significance	9	35806541	35806541	Human	1	name
126733040	CV1020645	single nucleotide variant	NM_003995.4(NPR2):c.3078+16G>T	Acromesomelic dysplasia 1, Maroteaux type [RCV001334197]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002070180]	likely benign\|uncertain significance	9	35809263	35809263	Human	1	name
150456436	CV1235207	single nucleotide variant	NM_003995.4(NPR2):c.668-188C>T	not provided [RCV001648623]	benign	9	35793710	35793710	Human		name
150494102	CV1238800	single nucleotide variant	NM_003995.4(NPR2):c.3079-49A>G	not provided [RCV001655344]	benign	9	35809331	35809331	Human		name
150511287	CV1242667	single nucleotide variant	NM_003995.4(NPR2):c.1436+82T>C	not provided [RCV001661019]	benign	9	35801236	35801236	Human		name
150471236	CV1248185	single nucleotide variant	NM_003995.4(NPR2):c.1558-67C>A	not provided [RCV001671222]	benign	9	35801859	35801859	Human		name
150487035	CV1251456	single nucleotide variant	NM_003995.4(NPR2):c.1632+95G>C	not provided [RCV001674127]	benign	9	35802095	35802095	Human		name
152083905	CV1525408	single nucleotide variant	NM_003995.4(NPR2):c.2712+16G>C	Acromesomelic dysplasia 1, Maroteaux type [RCV002131182]\|not specified [RCV005406370]	likely benign	9	35807414	35807414	Human	1	name
152049929	CV1532343	single nucleotide variant	NM_003995.4(NPR2):c.2987-11A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV002118396]	likely benign	9	35809145	35809145	Human	1	name
152048822	CV1575101	single nucleotide variant	NM_003995.4(NPR2):c.2713-11C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV002109301]	likely benign	9	35808498	35808498	Human	1	name
152070789	CV1581310	single nucleotide variant	NM_003995.4(NPR2):c.2372+14A>T	Acromesomelic dysplasia 1, Maroteaux type [RCV002091559]	likely benign	9	35806247	35806247	Human	1	name
152076392	CV1581432	single nucleotide variant	NM_003995.4(NPR2):c.1352-13A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV002112162]	likely benign	9	35801057	35801057	Human	1	name
152028588	CV1587043	single nucleotide variant	NM_003995.4(NPR2):c.2372+18G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002085512]\|not specified [RCV004801151]	likely benign	9	35806251	35806251	Human	1	name
152150959	CV1595423	single nucleotide variant	NM_003995.4(NPR2):c.2048-16G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002201958]	likely benign	9	35805814	35805814	Human	1	name
152045018	CV1599588	single nucleotide variant	NM_003995.4(NPR2):c.3078+17G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002075663]	likely benign	9	35809264	35809264	Human	1	name
152058233	CV1602736	single nucleotide variant	NM_003995.4(NPR2):c.3079-10C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002194259]	likely benign	9	35809370	35809370	Human	1	name
152057187	CV1622398	single nucleotide variant	NM_003995.4(NPR2):c.2987-12C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV002184483]	likely benign	9	35809144	35809144	Human	1	name
156408679	CV1870235	single nucleotide variant	NM_003995.4(NPR2):c.3078+14A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV003071367]	likely benign	9	35809261	35809261	Human	1	name
156358720	CV1873897	single nucleotide variant	NM_003995.4(NPR2):c.2643+20G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV003065454]	likely benign	9	35807166	35807166	Human	1	name
156293955	CV1892166	single nucleotide variant	NM_003995.4(NPR2):c.2519+14C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV003061577]	likely benign	9	35806552	35806552	Human	1	name
156370606	CV1920180	single nucleotide variant	NM_003995.4(NPR2):c.2712+12G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002603143]	likely benign	9	35807410	35807410	Human	1	name
156352655	CV1923651	single nucleotide variant	NM_003995.4(NPR2):c.2888-18A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV002651013]	uncertain significance	9	35808737	35808737	Human	1	name
156443859	CV1941230	single nucleotide variant	NM_003995.4(NPR2):c.1711-15G>T	Acromesomelic dysplasia 1, Maroteaux type [RCV003114768]	likely benign	9	35802488	35802488	Human	1	name
155901140	CV2083803	single nucleotide variant	NM_003995.4(NPR2):c.2047+12C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV002857863]	likely benign	9	35805682	35805682	Human	1	name
156000226	CV2092168	single nucleotide variant	NM_003995.4(NPR2):c.2048-11C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV002908592]	likely benign	9	35805819	35805819	Human	1	name
156012437	CV2096292	single nucleotide variant	NM_003995.4(NPR2):c.2986+10T>A	Acromesomelic dysplasia 1, Maroteaux type [RCV002909182]	likely benign	9	35808863	35808863	Human	1	name
156015117	CV2120488	single nucleotide variant	NM_003995.4(NPR2):c.1558-18T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV002975860]	likely benign	9	35801908	35801908	Human	1	name
402497833	CV3092792	single nucleotide variant	NM_003995.4(NPR2):c.1123+18A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV003788256]	likely benign	9	35800175	35800175	Human	1	name
402525319	CV3102658	single nucleotide variant	NM_003995.4(NPR2):c.1632+10C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV003790752]	likely benign	9	35802010	35802010	Human	1	name
405039624	CV3103299	single nucleotide variant	NM_003995.4(NPR2):c.1633-13C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV003797176]	likely benign	9	35802193	35802193	Human	1	name
405043601	CV3103785	single nucleotide variant	NM_003995.4(NPR2):c.1557+17G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV003797503]	likely benign	9	35801780	35801780	Human	1	name
405015974	CV3104479	single nucleotide variant	NM_003995.4(NPR2):c.1352-12T>A	Acromesomelic dysplasia 1, Maroteaux type [RCV003805348]	uncertain significance	9	35801058	35801058	Human	1	name
405177454	CV3105327	single nucleotide variant	NM_003995.4(NPR2):c.2887+19C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV003803650]	likely benign	9	35808702	35808702	Human	1	name
405153091	CV3110197	single nucleotide variant	NM_003995.4(NPR2):c.1124-11T>G	Acromesomelic dysplasia 1, Maroteaux type [RCV003817717]	likely benign	9	35800378	35800378	Human	1	name
11602599	CV319144	single nucleotide variant	NM_003995.4(NPR2):c.2047+11C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV000292126]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002058802]	benign\|likely benign\|uncertain significance	9	35805681	35805681	Human	1	name
11604728	CV319145	single nucleotide variant	NM_003995.4(NPR2):c.2643+10A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV000311986]\|Acromesomelic dysplasia 1, Maroteaux type [RCV000950581]	benign\|likely benign\|uncertain significance	9	35807156	35807156	Human	1	name
597885876	CV3866534	single nucleotide variant	NM_003995.4(NPR2):c.2048-15G>C	Acromesomelic dysplasia 1, Maroteaux type [RCV005218010]	likely benign	9	35805815	35805815	Human	1	name
597894338	CV3868502	single nucleotide variant	NM_003995.4(NPR2):c.1815+14G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV005219356]	likely benign	9	35802621	35802621	Human	1	name
597894432	CV3868516	single nucleotide variant	NM_003995.4(NPR2):c.2520-19C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV005219370]	likely benign	9	35807004	35807004	Human	1	name
597852925	CV3870131	single nucleotide variant	NM_003995.4(NPR2):c.2373-17T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV005228523]	likely benign	9	35806375	35806375	Human	1	name
597907741	CV3870371	single nucleotide variant	NM_003995.4(NPR2):c.1816-13T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV005221422]	uncertain significance	9	35802719	35802719	Human	1	name
597855130	CV3870602	single nucleotide variant	NM_003995.4(NPR2):c.1124-20G>A	Acromesomelic dysplasia 1, Maroteaux type [RCV005228803]	likely benign	9	35800369	35800369	Human	1	name
597848601	CV3872854	single nucleotide variant	NM_003995.4(NPR2):c.1710+15A>G	Acromesomelic dysplasia 1, Maroteaux type [RCV005212491]	likely benign	9	35802298	35802298	Human	1	name
597845380	CV3875935	single nucleotide variant	NM_003995.4(NPR2):c.2644-14T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV005212017]	likely benign	9	35807316	35807316	Human	1	name
597840096	CV3877629	single nucleotide variant	NM_003995.4(NPR2):c.2644-11A>C	Acromesomelic dysplasia 1, Maroteaux type [RCV005226283]	likely benign	9	35807319	35807319	Human	1	name
15146698	CV695443	single nucleotide variant	NM_003995.4(NPR2):c.1633-10C>A	Acromesomelic dysplasia 1, Maroteaux type [RCV001169368]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001519763]	benign\|likely benign	9	35802196	35802196	Human	1	name
15143368	CV744379	single nucleotide variant	NM_003995.4(NPR2):c.3078+10G>T	not provided [RCV000899825]	likely benign	9	35809257	35809257	Human		name
15180554	CV777820	single nucleotide variant	NM_003995.4(NPR2):c.1351+10T>C	Acromesomelic dysplasia 1, Maroteaux type [RCV000951775]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001169366]\|NPR2-related disorder [RCV004543578]\|not specified [RCV003396558]	likely benign\|uncertain significance	9	35800851	35800851	Human	2	name , trait , alternate_id
28877405	CV903404	single nucleotide variant	NM_003995.4(NPR2):c.1887+11C>G	Acromesomelic dysplasia 1, Maroteaux type [RCV001166429]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002558628]	likely benign\|uncertain significance	9	35802814	35802814	Human	1	name
28879174	CV903406	single nucleotide variant	NM_003995.4(NPR2):c.2519+15C>T	Acromesomelic dysplasia 1, Maroteaux type [RCV001166963]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002068023]\|not provided [RCV005232141]	benign\|likely benign\|uncertain significance	9	35806553	35806553	Human	1	name
150445077	CV1215433	single nucleotide variant	NM_003995.4(NPR2):c.2712+147C>T	not provided [RCV001611026]	benign	9	35807545	35807545	Human		name
150454840	CV1232348	single nucleotide variant	NM_003995.4(NPR2):c.2712+249A>G	not provided [RCV001648361]	benign	9	35807647	35807647	Human		name
150460116	CV1236198	single nucleotide variant	NM_003995.4(NPR2):c.2520-189C>A	not provided [RCV001649169]	benign	9	35806834	35806834	Human		name
150456957	CV1260077	single nucleotide variant	NM_003995.4(NPR2):c.1437-204C>T	not provided [RCV001681557]	benign	9	35801439	35801439	Human		name
150464068	CV1273244	single nucleotide variant	NM_003995.4(NPR2):c.2713-172C>G	not provided [RCV001694001]	benign	9	35808337	35808337	Human	1	name
150464068	CV1273244	single nucleotide variant	NM_003995.4(NPR2):c.2713-172C>G	not provided [RCV001694001]	benign	9	35808337	35808338	Human	1	name
150454310	CV1232246	microsatellite	NM_003995.4(NPR2):c.874-200AC[13]	not provided [RCV001648259]	benign	9	35799418	35799419	Human		name
152131670	CV1631161	single nucleotide variant	NM_003995.4(NPR2):c.9G>A (p.Leu3=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002119164]	likely benign	9	35792417	35792417	Human	1	name
152100976	CV1645707	single nucleotide variant	NM_003995.4(NPR2):c.7C>T (p.Leu3=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002173095]	likely benign	9	35792415	35792415	Human	1	name
597881982	CV3865797	deletion	NM_003995.4(NPR2):c.1558-3_1558del	Acromesomelic dysplasia 1, Maroteaux type [RCV005217462]	likely pathogenic	9	35801922	35801925	Human	1	name
11600383	CV312693	single nucleotide variant	NM_003995.4(NPR2):c.18T>C (p.Leu6=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000273566]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001515144]\|not provided [RCV001712168]	benign	9	35792426	35792426	Human	1	name
152152247	CV1626851	single nucleotide variant	NM_003995.4(NPR2):c.36C>T (p.Ala12=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002202148]	likely benign	9	35792444	35792444	Human	1	name
156056589	CV1928785	deletion	NM_003995.4(NPR2):c.2520-7_2520-6del	Acromesomelic dysplasia 1, Maroteaux type [RCV002620792]	likely benign	9	35807016	35807017	Human	1	name
155996686	CV2109483	single nucleotide variant	NM_003995.4(NPR2):c.60C>T (p.Pro20=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002947592]	likely benign	9	35792468	35792468	Human	1	name
402508819	CV3090773	single nucleotide variant	NM_003995.4(NPR2):c.63G>A (p.Gly21=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003789390]	likely benign	9	35792471	35792471	Human	1	name
597833906	CV3864185	single nucleotide variant	NM_003995.4(NPR2):c.84G>C (p.Ala28=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005209821]	likely benign	9	35792492	35792492	Human	1	name
597849020	CV3872905	single nucleotide variant	NM_003995.4(NPR2):c.93G>A (p.Leu31=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005212542]	likely benign	9	35792501	35792501	Human	1	name
13624542	CV524989	single nucleotide variant	NM_003995.4(NPR2):c.90G>A (p.Val30=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000652337]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001166891]\|not specified [RCV004782491]	likely benign\|uncertain significance	9	35792498	35792498	Human	1	name
151882562	CV1364257	deletion	NM_003995.4(NPR2):c.60del (p.Ala22fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV001999856]	pathogenic	9	35792466	35792466	Human	1	name
156068702	CV1952533	single nucleotide variant	NM_003995.4(NPR2):c.276C>T (p.Asp92=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002569539]	likely benign	9	35792684	35792684	Human	1	name
156106004	CV2038508	single nucleotide variant	NM_003995.4(NPR2):c.11C>T (p.Pro4Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV002761494]	uncertain significance	9	35792419	35792419	Human	1	name
405067986	CV3111050	single nucleotide variant	NM_003995.4(NPR2):c.171C>A (p.Gly57=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003809554]	likely benign	9	35792579	35792579	Human	1	name
597895208	CV3868752	single nucleotide variant	NM_003995.4(NPR2):c.183C>T (p.Pro61=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005219458]	likely benign	9	35792591	35792591	Human	1	name
597850435	CV3876964	single nucleotide variant	NM_003995.4(NPR2):c.282C>T (p.Asp94=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005228192]	likely benign	9	35792690	35792690	Human	1	name
598129133	CV3888426	single nucleotide variant	NM_003995.4(NPR2):c.16C>A (p.Leu6Ile)	not provided [RCV005244600]	likely benign	9	35792424	35792424	Human		name
15167086	CV751702	single nucleotide variant	NM_003995.4(NPR2):c.243G>A (p.Pro81=)	not provided [RCV000927013]	likely benign	9	35792651	35792651	Human		name
15103494	CV751703	single nucleotide variant	NM_003995.4(NPR2):c.243G>T (p.Pro81=)	not provided [RCV000915173]	likely benign	9	35792651	35792651	Human		name
40813788	CV858774	single nucleotide variant	NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001260934]	pathogenic	9	35792422	35792422	Human	1	name
28878946	CV902017	single nucleotide variant	NM_003995.4(NPR2):c.190C>T (p.Leu64=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166892]	uncertain significance	9	35792598	35792598	Human	1	name
126773716	CV1029222	single nucleotide variant	NM_003995.4(NPR2):c.65C>T (p.Ala22Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV001346394]	uncertain significance	9	35792473	35792473	Human	1	name
151845616	CV1353452	single nucleotide variant	NM_003995.4(NPR2):c.390G>A (p.Ser130=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001957291]	likely benign\|uncertain significance	9	35792798	35792798	Human	1	name
151840954	CV1464204	single nucleotide variant	NM_003995.4(NPR2):c.85G>A (p.Val29Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV001936105]	uncertain significance	9	35792493	35792493	Human	1	name
151773674	CV1504829	single nucleotide variant	NM_003995.4(NPR2):c.366G>A (p.Ala122=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002009088]	likely benign\|uncertain significance	9	35792774	35792774	Human	1	name
152082242	CV1526154	single nucleotide variant	NM_003995.4(NPR2):c.552C>T (p.Ile184=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002170687]	likely benign	9	35792960	35792960	Human	1	name
152065010	CV1583318	duplication	NM_003995.4(NPR2):c.1710+16_1710+19dup	Acromesomelic dysplasia 1, Maroteaux type [RCV002110658]	likely benign	9	35802295	35802296	Human	1	name
152156142	CV1589418	single nucleotide variant	NM_003995.4(NPR2):c.342C>T (p.His114=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002122457]	likely benign	9	35792750	35792750	Human	1	name
152134038	CV1590330	single nucleotide variant	NM_003995.4(NPR2):c.880T>C (p.Leu294=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002218465]	likely benign	9	35799624	35799624	Human	1	name
156348246	CV1889421	single nucleotide variant	NM_003995.4(NPR2):c.804T>C (p.Arg268=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003090766]	likely benign	9	35794034	35794034	Human	1	name
10047537	CV190426	single nucleotide variant	NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV000952311]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005406887]\|NPR2-related disorder [RCV004539597]\|not specified [RCV000173314]	benign\|likely benign\|uncertain significance	9	35792472	35792472	Human	3	name , trait , alternate_id
156360183	CV1904326	single nucleotide variant	NM_003995.4(NPR2):c.855C>G (p.Ala285=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002581672]	likely benign	9	35794085	35794085	Human	1	name
156005027	CV1906358	single nucleotide variant	NM_003995.4(NPR2):c.309C>T (p.Tyr103=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003098985]	likely benign	9	35792717	35792717	Human	1	name
156052121	CV1923959	single nucleotide variant	NM_003995.4(NPR2):c.681C>T (p.Cys227=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002637975]	likely benign	9	35793911	35793911	Human	1	name
156004572	CV2099654	single nucleotide variant	NM_003995.4(NPR2):c.636G>A (p.Gln212=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002908794]	likely benign	9	35793044	35793044	Human	1	name
156096458	CV2139727	single nucleotide variant	NM_003995.4(NPR2):c.354C>G (p.Pro118=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002979810]	likely benign	9	35792762	35792762	Human	1	name
11656425	CV308303	single nucleotide variant	NM_003995.4(NPR2):c.98A>C (p.Glu33Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV000333349]	uncertain significance	9	35792506	35792506	Human	1	name
11608263	CV308306	deletion	NM_003995.4(NPR2):c.2712+11_2712+19del	Acromesomelic dysplasia 1, Maroteaux type [RCV001515146]\|Acromesomelic dysplasia [RCV000352779]	benign	9	35807405	35807413	Human	2	name
11660644	CV312703	single nucleotide variant	NM_003995.4(NPR2):c.312T>C (p.Pro104=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000369095]	uncertain significance	9	35792720	35792720	Human	1	name
11598845	CV318592	single nucleotide variant	NM_003995.4(NPR2):c.336C>G (p.Ala112=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000260578]	uncertain significance	9	35792744	35792744	Human	1	name
8600737	CV32823	single nucleotide variant	NM_003995.4(NPR2):c.94C>A (p.Pro32Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV000019362]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005222694]	pathogenic\|uncertain significance	9	35792502	35792502	Human	1	name
597834710	CV3864321	single nucleotide variant	NM_003995.4(NPR2):c.960C>T (p.Asp320=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005209957]	likely benign	9	35799704	35799704	Human	1	name
597838386	CV3866982	single nucleotide variant	NM_003995.4(NPR2):c.53G>A (p.Arg18His)	Acromesomelic dysplasia 1, Maroteaux type [RCV005225974]	uncertain significance	9	35792461	35792461	Human	1	name
597839665	CV3867750	single nucleotide variant	NM_003995.4(NPR2):c.546C>T (p.Phe182=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005210946]	likely benign	9	35792954	35792954	Human	1	name
13519730	CV490866	single nucleotide variant	NM_003995.4(NPR2):c.697C>T (p.Leu233=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001168606]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001493441]\|not provided [RCV000598099]	likely benign\|uncertain significance	9	35793927	35793927	Human	1	name
13624543	CV524861	single nucleotide variant	NM_003995.4(NPR2):c.477C>T (p.His159=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000652338]	likely benign	9	35792885	35792885	Human	1	name
15182613	CV700993	single nucleotide variant	NM_003995.4(NPR2):c.471C>T (p.His157=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001451118]	likely benign	9	35792879	35792879	Human	1	name
15179930	CV700994	single nucleotide variant	NM_003995.4(NPR2):c.999C>T (p.Ile333=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000951633]\|not provided [RCV004712940]\|not specified [RCV004702534]	benign\|likely benign	9	35800033	35800033	Human	1	name
15187718	CV737128	single nucleotide variant	NM_003995.4(NPR2):c.999C>A (p.Ile333=)	not provided [RCV000909166]	likely benign	9	35800033	35800033	Human		name
15144282	CV751704	single nucleotide variant	NM_003995.4(NPR2):c.966T>C (p.Gly322=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000922341]	likely benign	9	35799710	35799710	Human	1	name
15198950	CV767411	single nucleotide variant	NM_003995.4(NPR2):c.639C>T (p.Ala213=)	not provided [RCV000934962]	likely benign	9	35793047	35793047	Human		name
15114039	CV767412	single nucleotide variant	NM_003995.4(NPR2):c.897A>T (p.Arg299=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003768885]	likely benign	9	35799641	35799641	Human	1	name
15107644	CV767413	single nucleotide variant	NM_003995.4(NPR2):c.915G>A (p.Glu305=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001512778]\|not provided [RCV004721685]	benign\|likely benign	9	35799659	35799659	Human	1	name
126747415	CV1017197	single nucleotide variant	NM_003995.4(NPR2):c.2463G>A (p.Gln821=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001331148]	uncertain significance	9	35806482	35806482	Human	1	name
127273305	CV1076494	single nucleotide variant	NM_003995.4(NPR2):c.2118C>T (p.Asp706=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001405984]	likely benign	9	35805900	35805900	Human	1	name
127277424	CV1098161	single nucleotide variant	NM_003995.4(NPR2):c.2988G>A (p.Ala996=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001444391]	likely benign	9	35809157	35809157	Human	1	name
150455280	CV1214278	single nucleotide variant	NM_003995.4(NPR2):c.154G>A (p.Ala52Thr)	not provided [RCV001596848]	uncertain significance	9	35792562	35792562	Human		name
151878152	CV1370013	single nucleotide variant	NM_003995.4(NPR2):c.193C>T (p.Arg65Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001961301]	uncertain significance	9	35792601	35792601	Human	1	name
151884559	CV1412433	deletion	NM_003995.4(NPR2):c.507del (p.Tyr170fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV001887174]	pathogenic	9	35792915	35792915	Human	1	name
151834913	CV1429238	single nucleotide variant	NM_003995.4(NPR2):c.194G>A (p.Arg65Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001994089]	uncertain significance	9	35792602	35792602	Human	1	name
151805106	CV1430850	single nucleotide variant	NM_003995.4(NPR2):c.2412C>T (p.Arg804=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001899427]	likely benign\|uncertain significance	9	35806431	35806431	Human	1	name
151773941	CV1444275	single nucleotide variant	NM_003995.4(NPR2):c.1386C>T (p.Gly462=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001896611]	likely benign\|uncertain significance	9	35801104	35801104	Human	1	name
151779782	CV1497014	single nucleotide variant	NM_003995.4(NPR2):c.127C>G (p.Pro43Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV001930327]	uncertain significance	9	35792535	35792535	Human	1	name
151774292	CV1505064	single nucleotide variant	NM_003995.4(NPR2):c.264G>T (p.Lys88Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV001988541]	uncertain significance	9	35792672	35792672	Human	1	name
152138208	CV1525490	single nucleotide variant	NM_003995.4(NPR2):c.1575C>A (p.Gly525=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002137833]	likely benign	9	35801943	35801943	Human	1	name
152072720	CV1551686	single nucleotide variant	NM_003995.4(NPR2):c.2406G>C (p.Leu802=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002075318]	likely benign	9	35806425	35806425	Human	1	name
152054774	CV1564373	single nucleotide variant	NM_003995.4(NPR2):c.1956G>T (p.Val652=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002146097]	likely benign	9	35805579	35805579	Human	1	name
152076519	CV1581476	single nucleotide variant	NM_003995.4(NPR2):c.2472G>A (p.Leu824=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002112177]	likely benign	9	35806491	35806491	Human	1	name
152113310	CV1586023	single nucleotide variant	NM_003995.4(NPR2):c.2407C>T (p.Leu803=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002153341]	likely benign	9	35806426	35806426	Human	1	name
152050493	CV1606928	single nucleotide variant	NM_003995.4(NPR2):c.1650C>T (p.Ile550=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002108903]	likely benign	9	35802223	35802223	Human	1	name
152116357	CV1610942	single nucleotide variant	NM_003995.4(NPR2):c.1227C>T (p.Ala409=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002135144]	likely benign	9	35800717	35800717	Human	1	name
152028151	CV1642671	single nucleotide variant	NM_003995.4(NPR2):c.1038A>G (p.Glu346=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002185740]	likely benign	9	35800072	35800072	Human	1	name
152143045	CV1651417	single nucleotide variant	NM_003995.4(NPR2):c.1215T>C (p.Phe405=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002138417]	likely benign	9	35800480	35800480	Human	1	name
152140248	CV1660820	single nucleotide variant	NM_003995.4(NPR2):c.1209G>A (p.Gly403=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002120266]	likely benign	9	35800474	35800474	Human	1	name
153301448	CV1687820	single nucleotide variant	NM_003995.4(NPR2):c.277C>A (p.Pro93Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV002264895]	likely pathogenic	9	35792685	35792685	Human	1	name
155266005	CV1696154	single nucleotide variant	NM_003995.4(NPR2):c.130C>T (p.Arg44Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV002280928]	uncertain significance	9	35792538	35792538	Human	1	name
155803093	CV1857935	single nucleotide variant	NM_003995.4(NPR2):c.142G>A (p.Ala48Thr)	not provided [RCV002461785]	uncertain significance	9	35792550	35792550	Human		name
156120789	CV1892515	single nucleotide variant	NM_003995.4(NPR2):c.2835C>T (p.Arg945=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003081431]	likely benign	9	35808631	35808631	Human	1	name
156413298	CV1904822	single nucleotide variant	NM_003995.4(NPR2):c.1122C>T (p.His374=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002588119]	uncertain significance	9	35800156	35800156	Human	1	name
156102548	CV1916983	single nucleotide variant	NM_003995.4(NPR2):c.295C>T (p.Pro99Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV002592329]	uncertain significance	9	35792703	35792703	Human	1	name
156235828	CV1999579	single nucleotide variant	NM_003995.4(NPR2):c.1533A>G (p.Ala511=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002667752]	uncertain significance	9	35801739	35801739	Human	1	name
156123636	CV2012224	single nucleotide variant	NM_003995.4(NPR2):c.1992C>G (p.Gly664=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002696134]	likely benign	9	35805615	35805615	Human	1	name
10398721	CV204585	single nucleotide variant	NM_003995.4(NPR2):c.226T>C (p.Ser76Pro)	Short stature with nonspecific skeletal abnormalities [RCV000190429]	pathogenic	9	35792634	35792634	Human		name
156240065	CV2047409	single nucleotide variant	NM_003995.4(NPR2):c.170G>C (p.Gly57Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV002805643]\|Inborn genetic diseases [RCV002770919]	uncertain significance	9	35792578	35792578	Human	2	name
155916882	CV2063208	single nucleotide variant	NM_003995.4(NPR2):c.2343G>A (p.Gln781=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002838112]	likely benign	9	35806204	35806204	Human	1	name
156287536	CV2114985	single nucleotide variant	NM_003995.4(NPR2):c.1059G>A (p.Gln353=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002922012]	likely benign	9	35800093	35800093	Human	1	name
156103978	CV2132423	single nucleotide variant	NM_003995.4(NPR2):c.1923G>A (p.Ser641=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003002322]	likely benign	9	35805546	35805546	Human	1	name
156027246	CV2139250	single nucleotide variant	NM_003995.4(NPR2):c.1365C>A (p.Thr455=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002998978]	likely benign	9	35801083	35801083	Human	1	name
156042243	CV2143517	single nucleotide variant	NM_003995.4(NPR2):c.2778T>C (p.His926=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002999571]	likely benign	9	35808574	35808574	Human	1	name
156237927	CV2155908	single nucleotide variant	NM_003995.4(NPR2):c.1173C>T (p.Asp391=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003007991]	likely benign	9	35800438	35800438	Human	1	name
155993602	CV2171397	single nucleotide variant	NM_003995.4(NPR2):c.1227C>G (p.Ala409=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003034443]	likely benign	9	35800717	35800717	Human	1	name
156400572	CV2186075	single nucleotide variant	NM_003995.4(NPR2):c.2535G>A (p.Gln845=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003052268]	likely benign	9	35807038	35807038	Human	1	name
329954380	CV2669051	deletion	NM_003995.4(NPR2):c.493del (p.Arg165fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV003232887]	likely pathogenic	9	35792899	35792899	Human	1	name
404983567	CV3083100	single nucleotide variant	NM_003995.4(NPR2):c.1263G>A (p.Thr421=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003781607]	likely benign	9	35800753	35800753	Human	1	name
405021003	CV3088019	single nucleotide variant	NM_003995.4(NPR2):c.1866A>T (p.Ser622=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003795579]	likely benign	9	35802782	35802782	Human	1	name
402500798	CV3089633	single nucleotide variant	NM_003995.4(NPR2):c.2901T>G (p.Ala967=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003788556]\|NPR2-related disorder [RCV004539123]	benign\|likely benign	9	35808768	35808768	Human	2	name , trait , alternate_id
402500846	CV3089638	single nucleotide variant	NM_003995.4(NPR2):c.1956G>A (p.Val652=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003788561]	uncertain significance	9	35805579	35805579	Human	1	name
402498976	CV3092933	single nucleotide variant	NM_003995.4(NPR2):c.1251G>A (p.Gln417=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003788397]	likely benign	9	35800741	35800741	Human	1	name
405002589	CV3095601	single nucleotide variant	NM_003995.4(NPR2):c.1614C>T (p.Ala538=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003793906]	likely benign	9	35801982	35801982	Human	1	name
404982339	CV3100081	single nucleotide variant	NM_003995.4(NPR2):c.2577T>C (p.Ser859=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003791748]	likely benign	9	35807080	35807080	Human	1	name
405021064	CV3101265	single nucleotide variant	NM_003995.4(NPR2):c.2268A>G (p.Gln756=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003805844]	likely benign	9	35806129	35806129	Human	1	name
405026209	CV3101884	single nucleotide variant	NM_003995.4(NPR2):c.2751C>A (p.Gly917=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003806290]	likely benign	9	35808547	35808547	Human	1	name
405036230	CV3106162	single nucleotide variant	NM_003995.4(NPR2):c.1380T>A (p.Ala460=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003796853]	likely benign	9	35801098	35801098	Human	1	name
405010848	CV3109218	single nucleotide variant	NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003804886]	likely benign	9	35808798	35808798	Human	1	name
405159610	CV3109561	single nucleotide variant	NM_003995.4(NPR2):c.2376G>A (p.Glu792=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003802085]	likely benign\|uncertain significance	9	35806395	35806395	Human	1	name
405012645	CV3114177	single nucleotide variant	NM_003995.4(NPR2):c.2076C>T (p.Leu692=)	Acromesomelic dysplasia 1, Maroteaux type [RCV003805031]	likely benign	9	35805858	35805858	Human	1	name
11601893	CV312707	single nucleotide variant	NM_003995.4(NPR2):c.1572C>T (p.Tyr524=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000286069]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001503161]	likely benign\|uncertain significance	9	35801940	35801940	Human	1	name
11610460	CV312716	single nucleotide variant	NM_003995.4(NPR2):c.1794C>T (p.Tyr598=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000381719]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001515145]\|not provided [RCV001675888]	benign	9	35802586	35802586	Human	2	name
11610460	CV312716	single nucleotide variant	NM_003995.4(NPR2):c.1794C>T (p.Tyr598=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000381719]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001515145]\|not provided [RCV001675888]	benign	9	35802586	35802587	Human	2	name
11611663	CV312717	single nucleotide variant	NM_003995.4(NPR2):c.2337T>C (p.Phe779=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000398001]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002524599]	likely benign\|uncertain significance	9	35806198	35806198	Human	1	name
11607613	CV319143	single nucleotide variant	NM_003995.4(NPR2):c.1644C>T (p.Val548=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000345822]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005213270]\|NPR2-related disorder [RCV004530487]	likely benign\|uncertain significance	9	35802217	35802217	Human	2	name , trait , alternate_id
405273099	CV3197656	single nucleotide variant	NM_003995.4(NPR2):c.1707A>G (p.Lys569=)	NPR2-related disorder [RCV004531907]	likely benign	9	35802280	35802280	Human		name , trait , alternate_id
596927867	CV3541265	single nucleotide variant	NM_003995.4(NPR2):c.208G>A (p.Glu70Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV004797136]	uncertain significance	9	35792616	35792616	Human	1	name
597689150	CV3566542	single nucleotide variant	NM_003995.4(NPR2):c.220G>A (p.Ala74Thr)	Inborn genetic diseases [RCV004953906]	uncertain significance	9	35792628	35792628	Human	1	name
597840533	CV3867910	single nucleotide variant	NM_003995.4(NPR2):c.1551G>A (p.Leu517=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005211106]	likely benign	9	35801757	35801757	Human	1	name
597906201	CV3870177	single nucleotide variant	NM_003995.4(NPR2):c.142G>T (p.Ala48Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV005221228]	uncertain significance	9	35792550	35792550	Human	1	name
597908198	CV3870436	single nucleotide variant	NM_003995.4(NPR2):c.1413T>C (p.Gly471=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005221487]	likely benign	9	35801131	35801131	Human	1	name
597835604	CV3874238	single nucleotide variant	NM_003995.4(NPR2):c.1776T>C (p.Ile592=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005210158]	likely benign	9	35802568	35802568	Human	1	name
597886830	CV3876420	single nucleotide variant	NM_003995.4(NPR2):c.1026G>C (p.Leu342=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005218166]	likely benign	9	35800060	35800060	Human	1	name
597887156	CV3876497	single nucleotide variant	NM_003995.4(NPR2):c.1485C>G (p.Arg495=)	Acromesomelic dysplasia 1, Maroteaux type [RCV005218243]	likely benign	9	35801691	35801691	Human	1	name
597857043	CV3877746	single nucleotide variant	NM_003995.4(NPR2):c.242C>A (p.Pro81Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV005229055]	uncertain significance	9	35792650	35792650	Human	1	name
12907282	CV415194	single nucleotide variant	NM_003995.4(NPR2):c.140C>T (p.Pro47Leu)	not provided [RCV000490251]	likely pathogenic	9	35792548	35792548	Human		name
13474091	CV444493	single nucleotide variant	NM_003995.4(NPR2):c.173G>C (p.Arg58Pro)	Inborn genetic diseases [RCV004955579]\|not provided [RCV000519551]	uncertain significance	9	35792581	35792581	Human	1	name
14713389	CV638315	single nucleotide variant	NM_003995.4(NPR2):c.2281C>T (p.Leu761=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000823336]	likely benign\|uncertain significance	9	35806142	35806142	Human	1	name
15179953	CV700995	single nucleotide variant	NM_003995.4(NPR2):c.1155C>T (p.Asn385=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000951638]\|not specified [RCV004782610]	likely benign	9	35800420	35800420	Human	1	name
15179958	CV700996	single nucleotide variant	NM_003995.4(NPR2):c.1236G>A (p.Ser412=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000951639]\|not specified [RCV004702535]	likely benign	9	35800726	35800726	Human	1	name
15188816	CV700997	single nucleotide variant	NM_003995.4(NPR2):c.1629C>T (p.Phe543=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000953995]	likely benign	9	35801997	35801997	Human	1	name
15182617	CV700999	single nucleotide variant	NM_003995.4(NPR2):c.2434T>C (p.Leu812=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000952262]	benign	9	35806453	35806453	Human	1	name
15182257	CV701000	single nucleotide variant	NM_003995.4(NPR2):c.2895C>A (p.Val965=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000952173]	likely benign	9	35808762	35808762	Human	1	name
15162850	CV737129	single nucleotide variant	NM_003995.4(NPR2):c.1554G>A (p.Ser518=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000903645]	likely benign	9	35801760	35801760	Human	1	name
15146525	CV751705	single nucleotide variant	NM_003995.4(NPR2):c.2409G>A (p.Leu803=)	not provided [RCV000922735]	likely benign	9	35806428	35806428	Human		name
15195195	CV751706	single nucleotide variant	NM_003995.4(NPR2):c.2754C>A (p.Leu918=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001396673]	likely benign	9	35808550	35808550	Human	1	name
15141299	CV767415	single nucleotide variant	NM_003995.4(NPR2):c.2634C>A (p.Thr878=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001497628]	likely benign	9	35807137	35807137	Human	1	name
26899252	CV836154	single nucleotide variant	NM_003995.4(NPR2):c.1368G>A (p.Leu456=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001043084]	likely benign\|uncertain significance	9	35801086	35801086	Human	1	name
40888529	CV861276	deletion	NM_003995.4(NPR2):c.748del (p.Tyr250fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV001263531]	pathogenic	9	35793977	35793977	Human	1	name
28879165	CV902023	single nucleotide variant	NM_003995.4(NPR2):c.2460A>C (p.Thr820=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166961]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001427871]	likely benign\|uncertain significance	9	35806479	35806479	Human	1	name
28879178	CV902024	single nucleotide variant	NM_003995.4(NPR2):c.2523A>G (p.Ser841=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166964]	uncertain significance	9	35807026	35807026	Human	1	name
28879183	CV902025	single nucleotide variant	NM_003995.4(NPR2):c.2721G>A (p.Thr907=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166965]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001464061]	likely benign\|uncertain significance	9	35808517	35808517	Human	1	name
38482196	CV925595	single nucleotide variant	NM_003995.4(NPR2):c.155C>A (p.Ala52Asp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001218352]	uncertain significance	9	35792563	35792563	Human	1	name
126732804	CV993479	single nucleotide variant	NM_003995.4(NPR2):c.263A>C (p.Lys88Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV001294625]	uncertain significance	9	35792671	35792671	Human	1	name
126760539	CV1029223	single nucleotide variant	NM_003995.4(NPR2):c.652C>T (p.Arg218Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001340432]	uncertain significance	9	35793060	35793060	Human	1	name
126725481	CV1029224	single nucleotide variant	NM_003995.4(NPR2):c.788G>A (p.Arg263His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001348167]\|not provided [RCV001358437]	uncertain significance	9	35794018	35794018	Human	1	name
150455814	CV1214353	single nucleotide variant	NM_003995.4(NPR2):c.922G>C (p.Glu308Gln)	not provided [RCV001596923]	uncertain significance	9	35799666	35799666	Human		name
150456261	CV1214394	single nucleotide variant	NM_003995.4(NPR2):c.895C>T (p.Arg299Ter)	not provided [RCV001597493]	likely pathogenic	9	35799639	35799639	Human		name
151351450	CV1323459	single nucleotide variant	NM_003995.4(NPR2):c.448G>A (p.Gly150Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV001806315]	pathogenic\|conflicting interpretations of pathogenicity	9	35792856	35792856	Human	1	name
151713263	CV1394679	single nucleotide variant	NM_003995.4(NPR2):c.935G>A (p.Arg312His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001889819]	uncertain significance	9	35799679	35799679	Human	1	name
151790239	CV1399801	single nucleotide variant	NM_003995.4(NPR2):c.863A>G (p.Glu288Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV001916746]	uncertain significance	9	35794093	35794093	Human	1	name
151830610	CV1426472	single nucleotide variant	NM_003995.4(NPR2):c.815G>A (p.Arg272Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001976613]	uncertain significance	9	35794045	35794045	Human	1	name
151886120	CV1441373	single nucleotide variant	NM_003995.4(NPR2):c.613C>T (p.Arg205Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001942099]	pathogenic	9	35793021	35793021	Human	1	name
151713330	CV1464070	single nucleotide variant	NM_003995.4(NPR2):c.863A>C (p.Glu288Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV001964731]	uncertain significance	9	35794093	35794093	Human	1	name
151835786	CV1472728	single nucleotide variant	NM_003995.4(NPR2):c.631G>A (p.Glu211Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002051187]	uncertain significance	9	35793039	35793039	Human	1	name
151728977	CV1515785	single nucleotide variant	NM_003995.4(NPR2):c.681C>G (p.Cys227Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001983995]\|not provided [RCV004697182]	uncertain significance	9	35793911	35793911	Human	1	name
152045047	CV1612993	single nucleotide variant	NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002075945]	likely benign	9	35809403	35809403	Human	1	name
152031474	CV1670401	duplication	NM_003995.4(NPR2):c.2842dup (p.His948fs)	Short stature with nonspecific skeletal abnormalities [RCV002225247]	pathogenic	9	35808636	35808637	Human		name
152984375	CV1675370	deletion	NM_003995.4(NPR2):c.2079del (p.Ser693fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV002238733]	likely pathogenic	9	35805861	35805861	Human	1	name
155986379	CV1884030	single nucleotide variant	NM_003995.4(NPR2):c.760T>C (p.Tyr254His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003075903]	uncertain significance	9	35793990	35793990	Human	1	name
156339095	CV1902507	single nucleotide variant	NM_003995.4(NPR2):c.493C>T (p.Arg165Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003090250]\|Inborn genetic diseases [RCV003161799]	uncertain significance	9	35792901	35792901	Human	2	name
156414637	CV1908940	single nucleotide variant	NM_003995.4(NPR2):c.694A>G (p.Met232Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV002588722]	uncertain significance	9	35793924	35793924	Human	1	name
156418241	CV1914611	single nucleotide variant	NM_003995.4(NPR2):c.787C>T (p.Arg263Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002611420]\|NPR2-related disorder [RCV004538820]	uncertain significance	9	35794017	35794017	Human	2	name , trait , alternate_id
155946782	CV1921647	single nucleotide variant	NM_003995.4(NPR2):c.388T>G (p.Ser130Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV002615987]	uncertain significance	9	35792796	35792796	Human	1	name
156445980	CV1951007	single nucleotide variant	NM_003995.4(NPR2):c.542A>G (p.Tyr181Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003116943]	uncertain significance	9	35792950	35792950	Human	1	name
156387265	CV1957471	single nucleotide variant	NM_003995.4(NPR2):c.3015C>G (p.Thr1005=)	Acromesomelic dysplasia 1, Maroteaux type [RCV002583579]	likely benign	9	35809184	35809184	Human	1	name
156394105	CV2002673	single nucleotide variant	NM_003995.4(NPR2):c.802C>T (p.Arg268Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002681063]	uncertain significance	9	35794032	35794032	Human	1	name
155958744	CV2010636	single nucleotide variant	NM_003995.4(NPR2):c.965G>A (p.Gly322Asp)	Acromesomelic dysplasia 1, Maroteaux type [RCV002686409]\|Inborn genetic diseases [RCV005375140]	uncertain significance	9	35799709	35799709	Human	2	name
156222120	CV2037741	single nucleotide variant	NM_003995.4(NPR2):c.814C>T (p.Arg272Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV002790666]\|Inborn genetic diseases [RCV005382478]	uncertain significance	9	35794044	35794044	Human	2	name
10398719	CV204583	deletion	NM_003995.4(NPR2):c.1092del (p.Ile364fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV000190426]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001385132]\|NPR2-related disorder [RCV005406920]\|Short stature with nonspecific skeletal abnormalities [RCV000190427]	pathogenic	9	35800125	35800125	Human	2	name , trait , alternate_id
10398722	CV204586	single nucleotide variant	NM_003995.4(NPR2):c.788G>C (p.Arg263Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV002514080]\|Short stature with nonspecific skeletal abnormalities [RCV000190430]	pathogenic\|uncertain significance	9	35794018	35794018	Human	2	name
10398723	CV204587	single nucleotide variant	NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV001263517]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001857670]\|Short stature with nonspecific skeletal abnormalities [RCV000190431]\|not provided [RCV001781561]	pathogenic\|likely pathogenic\|uncertain significance	9	35792736	35792736	Human	2	name
156041368	CV2049741	single nucleotide variant	NM_003995.4(NPR2):c.668T>G (p.Ile223Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV002796448]	uncertain significance	9	35793898	35793898	Human	1	name
155951378	CV2084581	single nucleotide variant	NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV002880521]	pathogenic	9	35793951	35793951	Human	1	name
156319779	CV2137983	single nucleotide variant	NM_003995.4(NPR2):c.491C>G (p.Ala164Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV002963122]	uncertain significance	9	35792899	35792899	Human	1	name
155936353	CV2138923	single nucleotide variant	NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV002993755]\|Inborn genetic diseases [RCV004065187]\|not specified [RCV003479456]	uncertain significance	9	35792890	35792890	Human	2	name
156230827	CV2172986	single nucleotide variant	NM_003995.4(NPR2):c.664C>T (p.Arg222Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003059297]	uncertain significance	9	35793072	35793072	Human	1	name
156344511	CV2186204	single nucleotide variant	NM_003995.4(NPR2):c.886A>G (p.Ile296Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV003047936]	uncertain significance	9	35799630	35799630	Human	1	name
243054979	CV2408358	single nucleotide variant	NM_003995.4(NPR2):c.784C>A (p.Leu262Ile)	not provided [RCV003131824]	uncertain significance	9	35794014	35794014	Human		name
243055352	CV2408361	single nucleotide variant	NM_003995.4(NPR2):c.421C>T (p.Arg141Cys)	not provided [RCV003131825]	uncertain significance	9	35792829	35792829	Human		name
11579259	CV272459	single nucleotide variant	NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000298974]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001410358]\|not provided [RCV000303783]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	35809388	35809388	Human	1	name
401767930	CV2730014	single nucleotide variant	NM_003995.4(NPR2):c.464C>T (p.Thr155Ile)	Inborn genetic diseases [RCV003302386]	uncertain significance	9	35792872	35792872	Human	1	name
401920880	CV2802032	single nucleotide variant	NM_003995.4(NPR2):c.945A>G (p.Ile315Met)	NPR2-related disorder [RCV004534220]	uncertain significance	9	35799689	35799689	Human		name , trait , alternate_id
405007474	CV3083104	single nucleotide variant	NM_003995.4(NPR2):c.305T>C (p.Val102Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV003784051]	uncertain significance	9	35792713	35792713	Human	1	name
402521167	CV3086327	single nucleotide variant	NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV003781100]	pathogenic	9	35794074	35794074	Human	1	name
402521179	CV3086328	single nucleotide variant	NM_003995.4(NPR2):c.890C>T (p.Thr297Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV003781101]	uncertain significance	9	35799634	35799634	Human	1	name
402522836	CV3086615	single nucleotide variant	NM_003995.4(NPR2):c.896G>A (p.Arg299Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV003781232]	uncertain significance	9	35799640	35799640	Human	1	name
404991266	CV3091286	single nucleotide variant	NM_003995.4(NPR2):c.832C>T (p.Arg278Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003792759]	uncertain significance	9	35794062	35794062	Human	1	name
402521551	CV3092023	single nucleotide variant	NM_003995.4(NPR2):c.949G>T (p.Ala317Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV003790469]	uncertain significance	9	35799693	35799693	Human	1	name
402495276	CV3092398	single nucleotide variant	NM_003995.4(NPR2):c.826G>C (p.Asp276His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003788018]	uncertain significance	9	35794056	35794056	Human	1	name
405023542	CV3097607	duplication	NM_003995.4(NPR2):c.2738dup (p.Met913fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV003806068]	pathogenic	9	35808533	35808534	Human	1	name
405032478	CV3098658	single nucleotide variant	NM_003995.4(NPR2):c.826G>A (p.Asp276Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV003806783]	uncertain significance	9	35794056	35794056	Human	1	name
405033415	CV3098731	single nucleotide variant	NM_003995.4(NPR2):c.990G>A (p.Met330Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV003806857]	uncertain significance	9	35800024	35800024	Human	1	name
404982048	CV3100039	single nucleotide variant	NM_003995.4(NPR2):c.361A>C (p.Thr121Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV003791706]	uncertain significance	9	35792769	35792769	Human	1	name
404985225	CV3100611	single nucleotide variant	NM_003995.4(NPR2):c.803G>A (p.Arg268His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003792116]\|Inborn genetic diseases [RCV005377568]	uncertain significance	9	35794033	35794033	Human	2	name
405020188	CV3101173	single nucleotide variant	NM_003995.4(NPR2):c.331T>G (p.Phe111Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV003805752]	uncertain significance	9	35792739	35792739	Human	1	name
405094418	CV3105533	single nucleotide variant	NM_003995.4(NPR2):c.477C>G (p.His159Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV003801250]	uncertain significance	9	35792885	35792885	Human	1	name
405012121	CV3109193	single nucleotide variant	NM_003995.4(NPR2):c.385T>G (p.Phe129Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV003804861]	uncertain significance	9	35792793	35792793	Human	1	name
405158233	CV3109341	single nucleotide variant	NM_003995.4(NPR2):c.740A>G (p.Asn247Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV003801864]\|Inborn genetic diseases [RCV004953550]	uncertain significance	9	35793970	35793970	Human	2	name
405128528	CV3110116	single nucleotide variant	NM_003995.4(NPR2):c.607T>C (p.Tyr203His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003815653]	uncertain significance	9	35793015	35793015	Human	1	name
405108028	CV3112229	single nucleotide variant	NM_003995.4(NPR2):c.407A>T (p.Tyr136Phe)	Acromesomelic dysplasia 1, Maroteaux type [RCV003813072]\|not provided [RCV004780662]	uncertain significance	9	35792815	35792815	Human	1	name
405157366	CV3114502	single nucleotide variant	NM_003995.4(NPR2):c.839G>A (p.Arg280Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV003818080]\|Inborn genetic diseases [RCV005387264]	likely benign\|uncertain significance	9	35794069	35794069	Human	2	name
11609973	CV318595	single nucleotide variant	NM_003995.4(NPR2):c.725G>A (p.Arg242Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV000375004]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001230881]\|Inborn genetic diseases [RCV002524598]	uncertain significance	9	35793955	35793955	Human	2	name
405268984	CV3187181	single nucleotide variant	NM_003995.4(NPR2):c.601C>T (p.Gln201Ter)	Short stature with nonspecific skeletal abnormalities [RCV004759338]\|not provided [RCV003887265]	pathogenic	9	35793009	35793009	Human		name
11605099	CV319133	single nucleotide variant	NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)	Acromesomelic dysplasia 1, Maroteaux type [RCV000315791]\|Acromesomelic dysplasia 1, Maroteaux type [RCV000946345]	likely benign\|uncertain significance	9	35793057	35793057	Human	1	name
11645584	CV319141	single nucleotide variant	NM_003995.4(NPR2):c.853G>A (p.Ala285Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV000266103]	uncertain significance	9	35794083	35794083	Human	1	name
8600738	CV32824	single nucleotide variant	NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV000019363]	pathogenic	9	35792751	35792751	Human	1	name
8600739	CV32825	single nucleotide variant	NM_003995.4(NPR2):c.528T>A (p.Asp176Glu)	Acromesomelic dysplasia 1, Maroteaux type [RCV000019364]	pathogenic	9	35792936	35792936	Human	1	name
405693137	CV3362362	single nucleotide variant	NM_003995.4(NPR2):c.578G>A (p.Gly193Asp)	Inborn genetic diseases [RCV004491110]	uncertain significance	9	35792986	35792986	Human	1	name
407516569	CV3465691	single nucleotide variant	NM_003995.4(NPR2):c.625G>A (p.Gly209Ser)	Inborn genetic diseases [RCV004650321]	uncertain significance	9	35793033	35793033	Human	1	name
598201815	CV3521446	deletion	NM_003995.4(NPR2):c.1849del (p.Trp617fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV005254945]	likely pathogenic	9	35802765	35802765	Human	1	name
408394080	CV3526338	single nucleotide variant	NM_003995.4(NPR2):c.934C>T (p.Arg312Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV004771770]	uncertain significance	9	35799678	35799678	Human	1	name
596926402	CV3530788	single nucleotide variant	NM_003995.4(NPR2):c.889A>G (p.Thr297Ala)	not provided [RCV004778373]	uncertain significance	9	35799633	35799633	Human		name
596927677	CV3532658	single nucleotide variant	NM_003995.4(NPR2):c.824A>G (p.Gln275Arg)	not provided [RCV004778756]	uncertain significance	9	35794054	35794054	Human		name
596939182	CV3544518	single nucleotide variant	NM_003995.4(NPR2):c.404A>G (p.His135Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV005221089]\|Short stature with nonspecific skeletal abnormalities [RCV004805147]	uncertain significance	9	35792812	35792812	Human	2	name
597689144	CV3566541	single nucleotide variant	NM_003995.4(NPR2):c.567G>T (p.Glu189Asp)	Inborn genetic diseases [RCV004953905]	uncertain significance	9	35792975	35792975	Human	1	name
12742886	CV360913	single nucleotide variant	NM_003995.4(NPR2):c.779A>T (p.Glu260Val)	Craniosynostosis syndrome [RCV000414841]	likely pathogenic	9	35794009	35794009	Human	5	name
12743357	CV362063	single nucleotide variant	NM_003995.4(NPR2):c.560T>A (p.Val187Asp)	Acromesomelic dysplasia 1, Maroteaux type [RCV000416349]	pathogenic	9	35792968	35792968	Human	1	name
597830494	CV3735420	single nucleotide variant	NM_003995.4(NPR2):c.674A>G (p.Tyr225Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV005055338]	pathogenic	9	35793904	35793904	Human	1	name
597834243	CV3864240	single nucleotide variant	NM_003995.4(NPR2):c.652C>G (p.Arg218Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV005209876]	uncertain significance	9	35793060	35793060	Human	1	name
597837623	CV3866837	single nucleotide variant	NM_003995.4(NPR2):c.632A>T (p.Glu211Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV005225828]	uncertain significance	9	35793040	35793040	Human	1	name
597909707	CV3870828	single nucleotide variant	NM_003995.4(NPR2):c.589A>G (p.Ser197Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV005221690]	uncertain significance	9	35792997	35792997	Human	1	name
597902276	CV3873051	single nucleotide variant	NM_003995.4(NPR2):c.338C>T (p.Ser113Phe)	Acromesomelic dysplasia 1, Maroteaux type [RCV005220489]	uncertain significance	9	35792746	35792746	Human	1	name
597925471	CV3879785	single nucleotide variant	NM_003995.4(NPR2):c.866C>T (p.Ala289Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV005224147]	uncertain significance	9	35794096	35794096	Human	1	name
598176591	CV3891133	single nucleotide variant	NM_003995.4(NPR2):c.662G>A (p.Gly221Glu)	not provided [RCV005251986]	uncertain significance	9	35793070	35793070	Human		name
598264342	CV3997862	single nucleotide variant	NM_003995.4(NPR2):c.569C>G (p.Ala190Gly)	Inborn genetic diseases [RCV005387736]	uncertain significance	9	35792977	35792977	Human	1	name
616934533	CV4012541	single nucleotide variant	NM_003995.4(NPR2):c.838C>T (p.Arg280Trp)	not specified [RCV005409578]	uncertain significance	9	35794068	35794068	Human		name
12893494	CV407704	duplication	NM_003995.4(NPR2):c.1968dup (p.Val657fs)	not provided [RCV000479206]	likely pathogenic	9	35805587	35805588	Human		name
13474296	CV459243	single nucleotide variant	NM_003995.4(NPR2):c.3034C>T (p.Leu1012=)	Acromesomelic dysplasia 1, Maroteaux type [RCV000548187]	likely benign	9	35809203	35809203	Human	1	name
13530982	CV511840	single nucleotide variant	NM_003995.4(NPR2):c.830A>G (p.Asn277Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV001049354]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001168607]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002491338]\|Inborn genetic diseases [RCV000622943]\|not provided [RCV001796144]	uncertain significance	9	35794060	35794060	Human	2	name
13624494	CV524864	single nucleotide variant	NM_003995.4(NPR2):c.701A>G (p.His234Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV000652335]\|Inborn genetic diseases [RCV004957961]	uncertain significance	9	35793931	35793931	Human	2	name
15040223	CV682631	single nucleotide variant	NM_003995.4(NPR2):c.298G>A (p.Gly100Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV000856598]	likely pathogenic	9	35792706	35792706	Human	1	name
21071814	CV790910	single nucleotide variant	NM_003995.4(NPR2):c.653G>A (p.Arg218Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV000988184]	uncertain significance	9	35793061	35793061	Human	1	name
25318445	CV805623	deletion	NM_003995.4(NPR2):c.2527del (p.Ala843fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV001860592]\|not provided [RCV001008619]	pathogenic	9	35807029	35807029	Human	1	name
40813787	CV858773	single nucleotide variant	NM_003995.4(NPR2):c.329G>A (p.Arg110His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001260933]\|not provided [RCV004726875]	uncertain significance	9	35792737	35792737	Human	1	name
40815795	CV861212	single nucleotide variant	NM_003995.4(NPR2):c.661G>A (p.Gly221Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV001261880]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001298442]	pathogenic\|likely pathogenic\|uncertain significance	9	35793069	35793069	Human	1	name
40888519	CV861263	single nucleotide variant	NM_003995.4(NPR2):c.866C>A (p.Ala289Asp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001263518]	uncertain significance	9	35794096	35794096	Human	1	name
40888520	CV861264	single nucleotide variant	NM_003995.4(NPR2):c.422G>A (p.Arg141His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001263519]\|not provided [RCV004761931]	uncertain significance	9	35792830	35792830	Human	1	name
40886392	CV861280	deletion	NM_003995.4(NPR2):c.1215del (p.Gln406fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV001264761]	pathogenic	9	35800478	35800478	Human	1	name
28884873	CV902018	single nucleotide variant	NM_003995.4(NPR2):c.833G>A (p.Arg278His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001168608]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003769823]	uncertain significance	9	35794063	35794063	Human	1	name
28884878	CV902019	single nucleotide variant	NM_003995.4(NPR2):c.952C>T (p.Arg318Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001168609]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001873559]\|not provided [RCV003132246]	uncertain significance	9	35799696	35799696	Human	1	name
28885112	CV902027	single nucleotide variant	NM_003995.4(NPR2):c.3063G>C (p.Gly1021=)	Acromesomelic dysplasia 1, Maroteaux type [RCV001168677]	uncertain significance	9	35809232	35809232	Human	1	name
38461284	CV919233	single nucleotide variant	NM_003995.4(NPR2):c.494G>A (p.Arg165His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001197478]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001859192]\|Short stature with nonspecific skeletal abnormalities [RCV001253507]	uncertain significance	9	35792902	35792902	Human	2	name
126764875	CV993480	single nucleotide variant	NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV001301270]\|not provided [RCV001595075]	uncertain significance	9	35793979	35793979	Human	1	name
126748128	CV993481	single nucleotide variant	NM_003995.4(NPR2):c.953G>A (p.Arg318Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001296868]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005361506]\|not provided [RCV004692424]\|not specified [RCV005057223]	uncertain significance	9	35799697	35799697	Human	1	name
126762871	CV1008671	single nucleotide variant	NM_003995.4(NPR2):c.1844T>G (p.Leu615Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001319063]	uncertain significance	9	35802760	35802760	Human	1	name
126754905	CV1029225	single nucleotide variant	NM_003995.4(NPR2):c.1589C>A (p.Ala530Asp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001338924]	uncertain significance	9	35801957	35801957	Human	1	name
126725920	CV1029226	single nucleotide variant	NM_003995.4(NPR2):c.1802G>A (p.Arg601His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001348302]	uncertain significance	9	35802594	35802594	Human	1	name
126768988	CV1029227	single nucleotide variant	NM_003995.4(NPR2):c.1839C>G (p.Ile613Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV001343671]	uncertain significance	9	35802755	35802755	Human	1	name
126756322	CV1029228	single nucleotide variant	NM_003995.4(NPR2):c.2362C>T (p.Arg788Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV001339247]\|Inborn genetic diseases [RCV004960813]	uncertain significance	9	35806223	35806223	Human	2	name
126729019	CV1029229	single nucleotide variant	NM_003995.4(NPR2):c.2429A>G (p.Asn810Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV001349035]\|Inborn genetic diseases [RCV003169715]	uncertain significance	9	35806448	35806448	Human	2	name
126915049	CV1046194	single nucleotide variant	NM_003995.4(NPR2):c.1948T>G (p.Cys650Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV001359760]	uncertain significance	9	35805571	35805571	Human	1	name
126918103	CV1046195	single nucleotide variant	NM_003995.4(NPR2):c.2360G>A (p.Arg787Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001372461]	uncertain significance	9	35806221	35806221	Human	1	name
126920648	CV1046196	single nucleotide variant	NM_003995.4(NPR2):c.2363G>A (p.Arg788His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001373929]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005395001]	uncertain significance	9	35806224	35806224	Human	1	name
150456269	CV1214395	single nucleotide variant	NM_003995.4(NPR2):c.2411G>A (p.Arg804His)	Acromesomelic dysplasia 1, Maroteaux type [RCV002241572]\|Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV005361684]\|not provided [RCV001597494]	uncertain significance	9	35806430	35806430	Human	2	name
150520399	CV1289583	single nucleotide variant	NM_003995.4(NPR2):c.2065C>T (p.Pro689Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV001730000]	likely pathogenic	9	35805847	35805847	Human	1	name
150520463	CV1289675	single nucleotide variant	NM_003995.4(NPR2):c.1670G>A (p.Arg557His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001861028]\|Short stature with nonspecific skeletal abnormalities [RCV001730094]	uncertain significance	9	35802243	35802243	Human	2	name
150547221	CV1291941	single nucleotide variant	NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001733607]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002032734]	likely pathogenic\|uncertain significance	9	35806187	35806187	Human	1	name
150549596	CV1299544	single nucleotide variant	NM_003995.4(NPR2):c.1205C>T (p.Ser402Phe)	not provided [RCV001752470]	uncertain significance	9	35800470	35800470	Human		name
150550676	CV1305075	single nucleotide variant	NM_003995.4(NPR2):c.2923C>A (p.Pro975Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003772046]\|not provided [RCV001765855]	uncertain significance	9	35808790	35808790	Human	1	name
151348578	CV1324102	single nucleotide variant	NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001808015]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001885286]	pathogenic\|likely pathogenic	9	35806106	35806106	Human	1	name
151349012	CV1324307	single nucleotide variant	NM_003995.4(NPR2):c.1577C>A (p.Ser526Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001808224]	likely pathogenic	9	35801945	35801945	Human	1	name
151349635	CV1324435	single nucleotide variant	NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001808880]	pathogenic	9	35800145	35800145	Human	1	name
151349727	CV1324460	single nucleotide variant	NM_003995.4(NPR2):c.2648T>G (p.Val883Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV001808905]	uncertain significance	9	35807334	35807334	Human	1	name
151883456	CV1337897	single nucleotide variant	NM_003995.4(NPR2):c.1088G>A (p.Arg363Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001962131]	uncertain significance	9	35800122	35800122	Human	1	name
151711752	CV1339878	single nucleotide variant	NM_003995.4(NPR2):c.2777A>G (p.His926Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV002004410]	uncertain significance	9	35808573	35808573	Human	1	name
151886018	CV1341180	single nucleotide variant	NM_003995.4(NPR2):c.1070C>T (p.Thr357Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV001962672]\|Inborn genetic diseases [RCV004651855]	uncertain significance	9	35800104	35800104	Human	2	name
151709336	CV1351387	single nucleotide variant	NM_003995.4(NPR2):c.2762G>A (p.Arg921Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001992975]	uncertain significance	9	35808558	35808558	Human	1	name
151736851	CV1354914	single nucleotide variant	NM_003995.4(NPR2):c.2681A>C (p.Asp894Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV001892856]	uncertain significance	9	35807367	35807367	Human	1	name
151851129	CV1361957	single nucleotide variant	NM_003995.4(NPR2):c.1123G>A (p.Gly375Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV001978953]\|Acromesomelic dysplasia 1, Maroteaux type [RCV002507651]	uncertain significance	9	35800157	35800157	Human	1	name
151851592	CV1366056	single nucleotide variant	NM_003995.4(NPR2):c.1946A>T (p.Asn649Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV001922860]	uncertain significance	9	35805569	35805569	Human	1	name
151804240	CV1371767	single nucleotide variant	NM_003995.4(NPR2):c.1478G>A (p.Arg493His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001953210]	uncertain significance	9	35801684	35801684	Human	1	name
151786119	CV1386466	single nucleotide variant	NM_003995.4(NPR2):c.2807C>T (p.Ala936Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV001893197]	uncertain significance	9	35808603	35808603	Human	1	name
151752616	CV1398089	single nucleotide variant	NM_003995.4(NPR2):c.1388C>T (p.Thr463Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV001969347]	uncertain significance	9	35801106	35801106	Human	1	name
151734615	CV1409699	single nucleotide variant	NM_003995.4(NPR2):c.2572G>A (p.Asp858Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV001911240]	uncertain significance	9	35807075	35807075	Human	1	name
151721454	CV1420825	single nucleotide variant	NM_003995.4(NPR2):c.2885C>G (p.Thr962Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV002039988]	uncertain significance	9	35808681	35808681	Human	1	name
151790505	CV1425797	single nucleotide variant	NM_003995.4(NPR2):c.2158C>T (p.Arg720Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV001990034]	uncertain significance	9	35805940	35805940	Human	1	name
151885937	CV1428523	single nucleotide variant	NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV002037864]	pathogenic	9	35802272	35802272	Human	1	name
151759889	CV1443858	single nucleotide variant	NM_003995.4(NPR2):c.1621G>A (p.Gly541Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV001873113]	uncertain significance	9	35801989	35801989	Human	1	name
151870387	CV1454168	single nucleotide variant	NM_003995.4(NPR2):c.1262C>T (p.Thr421Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV001906398]\|not provided [RCV004693913]	uncertain significance	9	35800752	35800752	Human	1	name
151774618	CV1455651	single nucleotide variant	NM_003995.4(NPR2):c.2293A>G (p.Met765Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV002045571]	uncertain significance	9	35806154	35806154	Human	1	name
151751803	CV1459010	single nucleotide variant	NM_003995.4(NPR2):c.1324G>A (p.Asp442Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV002043358]	uncertain significance	9	35800814	35800814	Human	1	name
151782407	CV1466648	single nucleotide variant	NM_003995.4(NPR2):c.2738T>C (p.Met913Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV001885724]	uncertain significance	9	35808534	35808534	Human	1	name
151789694	CV1467154	single nucleotide variant	NM_003995.4(NPR2):c.2987C>T (p.Ala996Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV001901311]	uncertain significance	9	35809156	35809156	Human	1	name
151717418	CV1472506	single nucleotide variant	NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002026180]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005254019]	likely pathogenic	9	35808665	35808665	Human	1	name
151783666	CV1481254	single nucleotide variant	NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001951316]	pathogenic	9	35806202	35806202	Human	1	name
151847627	CV1484034	single nucleotide variant	NM_003995.4(NPR2):c.1072C>T (p.Arg358Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001903652]\|Short stature with nonspecific skeletal abnormalities [RCV004785368]	uncertain significance	9	35800106	35800106	Human	2	name
151860281	CV1484903	single nucleotide variant	NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001959140]	pathogenic	9	35806082	35806082	Human	1	name
151721501	CV1488902	single nucleotide variant	NM_003995.4(NPR2):c.2279A>G (p.Glu760Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV002040148]	uncertain significance	9	35806140	35806140	Human	1	name
151721637	CV1491755	single nucleotide variant	NM_003995.4(NPR2):c.1223C>T (p.Ala408Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV002003758]	uncertain significance	9	35800713	35800713	Human	1	name
151812097	CV1493827	single nucleotide variant	NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001944334]	pathogenic	9	35808641	35808641	Human	1	name
151794437	CV1506138	single nucleotide variant	NM_003995.4(NPR2):c.1780A>G (p.Ile594Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV001917128]	uncertain significance	9	35802572	35802572	Human	1	name
151736339	CV1507170	single nucleotide variant	NM_003995.4(NPR2):c.1225G>A (p.Ala409Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV001984760]\|not provided [RCV005057806]	likely pathogenic\|uncertain significance	9	35800715	35800715	Human	1	name
151721097	CV1516178	single nucleotide variant	NM_003995.4(NPR2):c.2739G>A (p.Met913Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV002038559]	uncertain significance	9	35808535	35808535	Human	1	name
9480263	CV152772	single nucleotide variant	NM_003995.4(NPR2):c.2647G>A (p.Val883Met)	Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV000132560]	pathogenic	9	35807333	35807333	Human	1	name
9480264	CV152773	single nucleotide variant	NM_003995.4(NPR2):c.1963C>T (p.Arg655Cys)	Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV000132561]	pathogenic	9	35805586	35805586	Human	1	name
9480265	CV152774	single nucleotide variant	NM_003995.4(NPR2):c.1462G>C (p.Ala488Pro)	Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV000132562]	pathogenic	9	35801668	35801668	Human	1	name
152978605	CV1671800	single nucleotide variant	NM_003995.4(NPR2):c.2116G>C (p.Asp706His)	Acromesomelic dysplasia 1, Maroteaux type [RCV002227899]	likely pathogenic	9	35805898	35805898	Human	1	name
152984376	CV1675371	single nucleotide variant	NM_003995.4(NPR2):c.1924C>T (p.His642Tyr)	Acromesomelic dysplasia 1, Maroteaux type [RCV002238734]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003093929]\|NPR2-related disorder [RCV004533993]	likely pathogenic\|uncertain significance	9	35805547	35805547	Human	2	name , trait , alternate_id
152979535	CV1676570	single nucleotide variant	NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV005225572]\|Epilepsy, familial focal, with variable foci 2 [RCV002246164]	likely pathogenic\|uncertain significance	9	35808590	35808590	Human	2	name
153301467	CV1685712	single nucleotide variant	NM_003995.4(NPR2):c.1579C>T (p.Leu527Phe)	Disproportionate short stature [RCV002260545]	pathogenic	9	35801947	35801947	Human	2	name
153301449	CV1687821	single nucleotide variant	NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV002264896]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003774832]	pathogenic	9	35800121	35800121	Human	1	name
155674141	CV1775679	single nucleotide variant	NM_003995.4(NPR2):c.2897G>C (p.Cys966Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV002296076]	uncertain significance	9	35808764	35808764	Human	1	name
155682812	CV1781064	single nucleotide variant	NM_003995.4(NPR2):c.2980G>A (p.Gly994Ser)	not provided [RCV002308852]	uncertain significance	9	35808847	35808847	Human		name
156352254	CV1870231	single nucleotide variant	NM_003995.4(NPR2):c.1825G>A (p.Glu609Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003064949]	uncertain significance	9	35802741	35802741	Human	1	name
156374659	CV1871744	single nucleotide variant	NM_003995.4(NPR2):c.1406T>C (p.Met469Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003066604]	uncertain significance	9	35801124	35801124	Human	1	name
156313676	CV1874663	single nucleotide variant	NM_003995.4(NPR2):c.1540C>T (p.Arg514Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003062610]	uncertain significance	9	35801746	35801746	Human	1	name
156387535	CV1888160	single nucleotide variant	NM_003995.4(NPR2):c.2839C>T (p.Arg947Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003067686]\|Inborn genetic diseases [RCV004960974]	uncertain significance	9	35808635	35808635	Human	2	name
156376062	CV1895923	single nucleotide variant	NM_003995.4(NPR2):c.2234G>A (p.Arg745Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV003092884]	uncertain significance	9	35806095	35806095	Human	1	name
156212066	CV1902501	single nucleotide variant	NM_003995.4(NPR2):c.1469T>C (p.Met490Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003084637]	uncertain significance	9	35801675	35801675	Human	1	name
156164634	CV1907664	single nucleotide variant	NM_003995.4(NPR2):c.1112G>A (p.Arg371Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV003083031]	uncertain significance	9	35800146	35800146	Human	1	name
156018860	CV1909326	single nucleotide variant	NM_003995.4(NPR2):c.1076A>C (p.Glu359Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV002619287]\|Inborn genetic diseases [RCV005377299]	uncertain significance	9	35800110	35800110	Human	2	name
155946091	CV1911311	single nucleotide variant	NM_003995.4(NPR2):c.1753G>A (p.Ala585Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV002615941]	uncertain significance	9	35802545	35802545	Human	1	name
156214132	CV1914221	single nucleotide variant	NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV002596186]	uncertain significance	9	35808552	35808552	Human	1	name
155937842	CV1917217	single nucleotide variant	NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV002615434]	pathogenic	9	35808832	35808832	Human	1	name
10050562	CV192112	single nucleotide variant	NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV001319753]\|not provided [RCV000175437]	uncertain significance	9	35808519	35808519	Human	1	name
156419178	CV1926219	single nucleotide variant	NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV002612397]	pathogenic	9	35800747	35800747	Human	1	name
156231734	CV1965703	single nucleotide variant	NM_003995.4(NPR2):c.1157A>G (p.Asn386Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV002596835]	uncertain significance	9	35800422	35800422	Human	1	name
156376731	CV2000362	single nucleotide variant	NM_003995.4(NPR2):c.2049G>T (p.Lys683Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV002653352]	uncertain significance	9	35805831	35805831	Human	1	name
156118830	CV2013489	single nucleotide variant	NM_003995.4(NPR2):c.2341C>A (p.Gln781Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002740119]	uncertain significance	9	35806202	35806202	Human	1	name
156216585	CV2039151	single nucleotide variant	NM_003995.4(NPR2):c.1573G>A (p.Gly525Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV002766823]	uncertain significance	9	35801941	35801941	Human	1	name
156021117	CV2043166	single nucleotide variant	NM_003995.4(NPR2):c.2773C>T (p.Arg925Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002780653]	uncertain significance	9	35808569	35808569	Human	1	name
10398720	CV204584	single nucleotide variant	NM_003995.4(NPR2):c.2455C>T (p.Arg819Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV001362476]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005252801]\|Short stature with nonspecific skeletal abnormalities [RCV000190428]\|not provided [RCV004589844]	pathogenic\|likely pathogenic\|uncertain significance	9	35806474	35806474	Human	2	name
10398724	CV204588	single nucleotide variant	NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu)	Acromesomelic dysplasia 1, Maroteaux type [RCV002514081]\|Short stature with nonspecific skeletal abnormalities [RCV000190432]	pathogenic\|uncertain significance	9	35800739	35800739	Human	2	name
156339285	CV2057936	single nucleotide variant	NM_003995.4(NPR2):c.1055T>C (p.Ile352Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV002811107]	uncertain significance	9	35800089	35800089	Human	1	name
155936305	CV2074870	single nucleotide variant	NM_003995.4(NPR2):c.2530G>A (p.Glu844Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002861462]	uncertain significance	9	35807033	35807033	Human	1	name
156022535	CV2079094	single nucleotide variant	NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV002885024]	pathogenic	9	35801717	35801717	Human	1	name
156035011	CV2097680	single nucleotide variant	NM_003995.4(NPR2):c.1267C>T (p.Arg423Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV002885568]\|not specified [RCV005239522]	uncertain significance	9	35800757	35800757	Human	1	name
156260620	CV2099061	single nucleotide variant	NM_003995.4(NPR2):c.1585A>G (p.Thr529Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV002895564]	uncertain significance	9	35801953	35801953	Human	1	name
156328285	CV2116229	single nucleotide variant	NM_003995.4(NPR2):c.2300G>A (p.Arg767Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV002938216]	uncertain significance	9	35806161	35806161	Human	1	name
156226749	CV2121845	single nucleotide variant	NM_003995.4(NPR2):c.2731G>A (p.Ala911Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV002958355]	uncertain significance	9	35808527	35808527	Human	1	name
155994727	CV2122502	single nucleotide variant	NM_003995.4(NPR2):c.1849T>C (p.Trp617Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV002974895]	uncertain significance	9	35802765	35802765	Human	1	name
155947646	CV2127240	single nucleotide variant	NM_003995.4(NPR2):c.2163T>A (p.Ser721Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV002971676]	uncertain significance	9	35805945	35805945	Human	1	name
156212441	CV2127812	single nucleotide variant	NM_003995.4(NPR2):c.2543G>A (p.Arg848Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV002957802]\|Inborn genetic diseases [RCV004067289]	uncertain significance	9	35807046	35807046	Human	2	name
155982892	CV2140616	single nucleotide variant	NM_003995.4(NPR2):c.2732C>A (p.Ala911Asp)	Acromesomelic dysplasia 1, Maroteaux type [RCV002996190]	uncertain significance	9	35808528	35808528	Human	1	name
156043084	CV2147045	single nucleotide variant	NM_003995.4(NPR2):c.2377G>A (p.Gly793Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV003019134]	uncertain significance	9	35806396	35806396	Human	1	name
155980666	CV2157277	single nucleotide variant	NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV003016365]	pathogenic	9	35806443	35806443	Human	1	name
156058355	CV2161749	single nucleotide variant	NM_003995.4(NPR2):c.2344A>G (p.Ile782Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV003019640]	uncertain significance	9	35806205	35806205	Human	1	name
156059539	CV2161837	single nucleotide variant	NM_003995.4(NPR2):c.1223C>A (p.Ala408Glu)	Acromesomelic dysplasia 1, Maroteaux type [RCV003019681]	uncertain significance	9	35800713	35800713	Human	1	name
155956175	CV2162669	single nucleotide variant	NM_003995.4(NPR2):c.2390T>C (p.Ile797Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003015112]	uncertain significance	9	35806409	35806409	Human	1	name
156017267	CV2295554	single nucleotide variant	NM_003995.4(NPR2):c.2918A>G (p.Lys973Arg)	Inborn genetic diseases [RCV002884660]	uncertain significance	9	35808785	35808785	Human	1	name
156211641	CV2370380	single nucleotide variant	NM_003995.4(NPR2):c.1655A>G (p.His552Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV005215963]\|Inborn genetic diseases [RCV003006832]	uncertain significance	9	35802228	35802228	Human	2	name
243051961	CV2405268	single nucleotide variant	NM_003995.4(NPR2):c.1117T>C (p.Tyr373His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003225871]	uncertain significance	9	35800151	35800151	Human	1	name
243057531	CV2408359	single nucleotide variant	NM_003995.4(NPR2):c.2375A>G (p.Glu792Gly)	not provided [RCV003133065]	uncertain significance	9	35806394	35806394	Human		name
243052671	CV2417973	single nucleotide variant	NM_003995.4(NPR2):c.1484G>A (p.Arg495His)	Short stature with nonspecific skeletal abnormalities [RCV003153038]	uncertain significance	9	35801690	35801690	Human		name
329401808	CV2457443	single nucleotide variant	NM_003995.4(NPR2):c.1562G>A (p.Gly521Glu)	Inborn genetic diseases [RCV003198822]	uncertain significance	9	35801930	35801930	Human	1	name
329402945	CV2462053	single nucleotide variant	NM_003995.4(NPR2):c.1423T>G (p.Phe475Val)	Inborn genetic diseases [RCV003199840]	uncertain significance	9	35801141	35801141	Human	1	name
329395176	CV2473047	single nucleotide variant	NM_003995.4(NPR2):c.1160A>G (p.Asp387Gly)	not provided [RCV003219031]	uncertain significance	9	35800425	35800425	Human		name
329350964	CV2477794	single nucleotide variant	NM_003995.4(NPR2):c.2123A>G (p.Tyr708Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV005227942]\|Short stature with nonspecific skeletal abnormalities [RCV004786899]\|not provided [RCV003223906]	likely pathogenic\|uncertain significance	9	35805905	35805905	Human	2	name
329952028	CV2671568	single nucleotide variant	NM_003995.4(NPR2):c.2366T>C (p.Phe789Ser)	not provided [RCV003236964]	uncertain significance	9	35806227	35806227	Human		name
11639917	CV267323	single nucleotide variant	NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166431]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001300728]\|not provided [RCV000328406]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	9	35806188	35806188	Human	1	name
401759308	CV2701483	single nucleotide variant	NM_003995.4(NPR2):c.2032C>T (p.His678Tyr)	Inborn genetic diseases [RCV003256828]	uncertain significance	9	35805655	35805655	Human	1	name
401797530	CV2742295	single nucleotide variant	NM_003995.4(NPR2):c.1779C>A (p.Cys593Ter)	NPR2-related disorder [RCV003324476]	pathogenic	9	35802571	35802571	Human		name , trait , alternate_id
401829649	CV2743480	single nucleotide variant	NM_003995.4(NPR2):c.2969T>G (p.Met990Arg)	Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV003326321]	uncertain significance	9	35808836	35808836	Human	1	name
401883417	CV2785617	single nucleotide variant	NM_003995.4(NPR2):c.2062G>T (p.Ala688Ser)	Inborn genetic diseases [RCV003386122]	uncertain significance	9	35805844	35805844	Human	1	name
401924864	CV2805149	single nucleotide variant	NM_003995.4(NPR2):c.2316C>G (p.Asp772Glu)	not specified [RCV003404970]	uncertain significance	9	35806177	35806177	Human		name
405027046	CV3082375	single nucleotide variant	NM_003995.4(NPR2):c.1294C>T (p.Pro432Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV003785826]	uncertain significance	9	35800784	35800784	Human	1	name
405005709	CV3082771	single nucleotide variant	NM_003995.4(NPR2):c.2159G>A (p.Arg720His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003783870]	uncertain significance	9	35805941	35805941	Human	1	name
11661815	CV308305	single nucleotide variant	NM_003995.4(NPR2):c.1403T>G (p.Ile468Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV000380355]	uncertain significance	9	35801121	35801121	Human	1	name
11611087	CV308307	single nucleotide variant	NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV000390082]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001850938]\|NPR2-related disorder [RCV004737459]\|not specified [RCV005238956]	uncertain significance	9	35808629	35808629	Human	2	name , trait , alternate_id
405014263	CV3083875	single nucleotide variant	NM_003995.4(NPR2):c.1301C>T (p.Ser434Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV003784668]	uncertain significance	9	35800791	35800791	Human	1	name
404999815	CV3085951	single nucleotide variant	NM_003995.4(NPR2):c.2155C>G (p.Leu719Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV003783322]	uncertain significance	9	35805937	35805937	Human	1	name
402521192	CV3086329	single nucleotide variant	NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV003781102]	pathogenic	9	35802593	35802593	Human	1	name
402487670	CV3090540	single nucleotide variant	NM_003995.4(NPR2):c.2414T>A (p.Met805Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003787202]	uncertain significance	9	35806433	35806433	Human	1	name
404992429	CV3091404	single nucleotide variant	NM_003995.4(NPR2):c.2483G>A (p.Arg828His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003792879]	uncertain significance	9	35806502	35806502	Human	1	name
402519398	CV3091853	single nucleotide variant	NM_003995.4(NPR2):c.1741C>T (p.Arg581Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003790299]	uncertain significance	9	35802533	35802533	Human	1	name
402521067	CV3091983	single nucleotide variant	NM_003995.4(NPR2):c.1462G>A (p.Ala488Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003790429]	uncertain significance	9	35801668	35801668	Human	1	name
405016490	CV3094018	single nucleotide variant	NM_003995.4(NPR2):c.1367T>C (p.Leu456Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV003784868]\|Inborn genetic diseases [RCV004953529]	uncertain significance	9	35801085	35801085	Human	2	name
405017919	CV3094341	single nucleotide variant	NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV003785031]	uncertain significance	9	35808654	35808654	Human	1	name
405004716	CV3095967	single nucleotide variant	NM_003995.4(NPR2):c.1191G>A (p.Met397Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV003794117]	uncertain significance	9	35800456	35800456	Human	1	name
405006508	CV3096093	single nucleotide variant	NM_003995.4(NPR2):c.1103T>C (p.Met368Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003794243]	uncertain significance	9	35800137	35800137	Human	1	name
405050956	CV3097834	single nucleotide variant	NM_003995.4(NPR2):c.1190T>C (p.Met397Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003808247]	uncertain significance	9	35800455	35800455	Human	1	name
405030899	CV3098388	single nucleotide variant	NM_003995.4(NPR2):c.2912G>T (p.Gly971Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV003806681]	uncertain significance	9	35808779	35808779	Human	1	name
405079123	CV3100550	single nucleotide variant	NM_003995.4(NPR2):c.2028C>A (p.Asp676Glu)	Acromesomelic dysplasia 1, Maroteaux type [RCV003800103]	uncertain significance	9	35805651	35805651	Human	1	name
405064944	CV3103163	single nucleotide variant	NM_003995.4(NPR2):c.2985A>C (p.Gln995His)	Acromesomelic dysplasia 1, Maroteaux type [RCV003799154]	uncertain significance	9	35808852	35808852	Human	1	name
405065558	CV3103345	single nucleotide variant	NM_003995.4(NPR2):c.1577C>T (p.Ser526Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV003799175]	uncertain significance	9	35801945	35801945	Human	1	name
405065740	CV3103357	single nucleotide variant	NM_003995.4(NPR2):c.2036C>T (p.Ala679Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV003799187]	uncertain significance	9	35805659	35805659	Human	1	name
405177472	CV3105329	single nucleotide variant	NM_003995.4(NPR2):c.1951G>A (p.Val651Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV003803652]	uncertain significance	9	35805574	35805574	Human	1	name
405037305	CV3106283	single nucleotide variant	NM_003995.4(NPR2):c.1775T>C (p.Ile592Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV003796974]	uncertain significance	9	35802567	35802567	Human	1	name
405007552	CV3109633	single nucleotide variant	NM_003995.4(NPR2):c.1093G>C (p.Val365Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV003804597]	uncertain significance	9	35800127	35800127	Human	1	name
405076895	CV3109689	single nucleotide variant	NM_003995.4(NPR2):c.1289G>A (p.Gly430Glu)	Acromesomelic dysplasia 1, Maroteaux type [RCV003810095]	uncertain significance	9	35800779	35800779	Human	1	name
405153177	CV3110204	single nucleotide variant	NM_003995.4(NPR2):c.1168A>C (p.Thr390Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV003817724]	uncertain significance	9	35800433	35800433	Human	1	name
405078428	CV3114674	single nucleotide variant	NM_003995.4(NPR2):c.2226T>A (p.Asn742Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003810237]	uncertain significance	9	35806087	35806087	Human	1	name
405079308	CV3114721	single nucleotide variant	NM_003995.4(NPR2):c.1954G>A (p.Val652Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV003810284]	uncertain significance	9	35805577	35805577	Human	1	name
11607746	CV318600	single nucleotide variant	NM_003995.4(NPR2):c.2261G>A (p.Arg754Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV000347047]	uncertain significance	9	35806122	35806122	Human	1	name
405654807	CV3228342	single nucleotide variant	NM_003995.4(NPR2):c.1702C>T (p.Leu568Phe)	not specified [RCV003995077]	uncertain significance	9	35802275	35802275	Human		name
8600740	CV32826	single nucleotide variant	NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV000019365]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001385133]	pathogenic	9	35800427	35800427	Human	1	name
405693115	CV3362357	single nucleotide variant	NM_003995.4(NPR2):c.1313C>G (p.Pro438Arg)	Inborn genetic diseases [RCV004491105]	uncertain significance	9	35800803	35800803	Human	1	name
405693117	CV3362358	single nucleotide variant	NM_003995.4(NPR2):c.1372A>G (p.Ile458Val)	Inborn genetic diseases [RCV004491106]	uncertain significance	9	35801090	35801090	Human	1	name
405693123	CV3362359	single nucleotide variant	NM_003995.4(NPR2):c.1615A>G (p.Asn539Asp)	Inborn genetic diseases [RCV004491107]	uncertain significance	9	35801983	35801983	Human	1	name
405693129	CV3362360	single nucleotide variant	NM_003995.4(NPR2):c.1739C>A (p.Thr580Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV005216213]\|Inborn genetic diseases [RCV004491108]	uncertain significance	9	35802531	35802531	Human	2	name
405693133	CV3362361	single nucleotide variant	NM_003995.4(NPR2):c.2072T>A (p.Leu691Gln)	Inborn genetic diseases [RCV004491109]	uncertain significance	9	35805854	35805854	Human	1	name
407501263	CV3495583	single nucleotide variant	NM_003995.4(NPR2):c.1685G>A (p.Arg562Gln)	not provided [RCV004697423]	uncertain significance	9	35802258	35802258	Human		name
598201821	CV3521447	single nucleotide variant	NM_003995.4(NPR2):c.1552T>C (p.Ser518Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV005254946]	uncertain significance	9	35801758	35801758	Human	1	name
408381464	CV3523427	single nucleotide variant	NM_003995.4(NPR2):c.2888G>A (p.Gly963Glu)	not provided [RCV004770801]	uncertain significance	9	35808755	35808755	Human		name
596929185	CV3530996	single nucleotide variant	NM_003995.4(NPR2):c.1030T>C (p.Tyr344His)	not provided [RCV004779570]	uncertain significance	9	35800064	35800064	Human		name
596921053	CV3534669	single nucleotide variant	NM_003995.4(NPR2):c.1329G>T (p.Leu443Phe)	Acromesomelic dysplasia 1, Maroteaux type [RCV004784226]	uncertain significance	9	35800819	35800819	Human	1	name
596942349	CV3544092	single nucleotide variant	NM_003995.4(NPR2):c.1549C>G (p.Leu517Val)	not specified [RCV004800083]	uncertain significance	9	35801755	35801755	Human		name
597689132	CV3566539	single nucleotide variant	NM_003995.4(NPR2):c.1440G>C (p.Lys480Asn)	Inborn genetic diseases [RCV004953903]	uncertain significance	9	35801646	35801646	Human	1	name
597689138	CV3566540	single nucleotide variant	NM_003995.4(NPR2):c.1243G>A (p.Glu415Lys)	Inborn genetic diseases [RCV004953904]	uncertain significance	9	35800733	35800733	Human	1	name
597689157	CV3566543	single nucleotide variant	NM_003995.4(NPR2):c.1720G>A (p.Val574Ile)	Inborn genetic diseases [RCV004953907]	uncertain significance	9	35802512	35802512	Human	1	name
12743351	CV362062	single nucleotide variant	NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV000416343]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003766174]\|Short stature with nonspecific skeletal abnormalities [RCV001262820]\|not provided [RCV001572044]	pathogenic\|likely pathogenic	9	35801153	35801153	Human	2	name
12743367	CV362065	single nucleotide variant	NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV000416364]	pathogenic	9	35806163	35806163	Human	1	name
12743372	CV362066	single nucleotide variant	NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV000416371]	pathogenic	9	35808811	35808811	Human	1	name
597855557	CV3762663	single nucleotide variant	NM_003995.4(NPR2):c.1582A>T (p.Met528Leu)	not specified [RCV005088581]	uncertain significance	9	35801950	35801950	Human		name
597855233	CV3762673	single nucleotide variant	NM_003995.4(NPR2):c.1621G>T (p.Gly541Cys)	not specified [RCV005088591]	uncertain significance	9	35801989	35801989	Human		name
597835192	CV3864429	single nucleotide variant	NM_003995.4(NPR2):c.1931G>A (p.Ser644Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV005210065]	uncertain significance	9	35805554	35805554	Human	1	name
597842200	CV3865011	single nucleotide variant	NM_003995.4(NPR2):c.1937A>G (p.Lys646Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV005211459]	uncertain significance	9	35805560	35805560	Human	1	name
597920161	CV3865431	single nucleotide variant	NM_003995.4(NPR2):c.1885A>G (p.Lys629Glu)	Acromesomelic dysplasia 1, Maroteaux type [RCV005223375]	uncertain significance	9	35802801	35802801	Human	1	name
597837177	CV3866754	single nucleotide variant	NM_003995.4(NPR2):c.1687C>G (p.Gln563Glu)	Acromesomelic dysplasia 1, Maroteaux type [RCV005225745]	uncertain significance	9	35802260	35802260	Human	1	name
597839080	CV3867638	single nucleotide variant	NM_003995.4(NPR2):c.2927G>A (p.Arg976His)	Acromesomelic dysplasia 1, Maroteaux type [RCV005210833]	uncertain significance	9	35808794	35808794	Human	1	name
597880499	CV3868371	single nucleotide variant	NM_003995.4(NPR2):c.1819A>T (p.Ile607Phe)	Acromesomelic dysplasia 1, Maroteaux type [RCV005217271]	uncertain significance	9	35802735	35802735	Human	1	name
597870933	CV3869986	single nucleotide variant	NM_003995.4(NPR2):c.2764A>C (p.Asn922His)	Acromesomelic dysplasia 1, Maroteaux type [RCV005215716]	uncertain significance	9	35808560	35808560	Human	1	name
597910044	CV3870876	single nucleotide variant	NM_003995.4(NPR2):c.2339G>T (p.Gly780Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV005221738]	uncertain significance	9	35806200	35806200	Human	1	name
597890867	CV3871654	single nucleotide variant	NM_003995.4(NPR2):c.1151A>G (p.Lys384Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV005218823]	uncertain significance	9	35800416	35800416	Human	1	name
597879321	CV3872027	single nucleotide variant	NM_003995.4(NPR2):c.2795G>A (p.Arg932His)	Acromesomelic dysplasia 1, Maroteaux type [RCV005217079]	uncertain significance	9	35808591	35808591	Human	1	name
597848276	CV3872810	single nucleotide variant	NM_003995.4(NPR2):c.1496T>C (p.Leu499Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV005212447]	uncertain significance	9	35801702	35801702	Human	1	name
597854250	CV3873875	single nucleotide variant	NM_003995.4(NPR2):c.1622G>C (p.Gly541Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV005228660]	uncertain significance	9	35801990	35801990	Human	1	name
597926798	CV3874036	single nucleotide variant	NM_003995.4(NPR2):c.1073G>A (p.Arg358Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV005224307]	uncertain significance	9	35800107	35800107	Human	1	name
597860718	CV3874831	single nucleotide variant	NM_003995.4(NPR2):c.2878G>A (p.Val960Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV005214172]	uncertain significance	9	35808674	35808674	Human	1	name
597863944	CV3875460	single nucleotide variant	NM_003995.4(NPR2):c.1532C>T (p.Ala511Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV005214638]	uncertain significance	9	35801738	35801738	Human	1	name
597886620	CV3876385	single nucleotide variant	NM_003995.4(NPR2):c.2924C>A (p.Pro975His)	Acromesomelic dysplasia 1, Maroteaux type [RCV005218131]	uncertain significance	9	35808791	35808791	Human	1	name
597901555	CV3876664	single nucleotide variant	NM_003995.4(NPR2):c.2206A>T (p.Ile736Phe)	Acromesomelic dysplasia 1, Maroteaux type [RCV005220362]	uncertain significance	9	35806067	35806067	Human	1	name
597838953	CV3876809	single nucleotide variant	NM_003995.4(NPR2):c.2950G>A (p.Val984Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV005226077]	uncertain significance	9	35808817	35808817	Human	1	name
597924377	CV3877282	single nucleotide variant	NM_003995.4(NPR2):c.2711A>G (p.Lys904Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV005223978]	uncertain significance	9	35807397	35807397	Human	1	name
597841847	CV3878155	single nucleotide variant	NM_003995.4(NPR2):c.2296G>C (p.Glu766Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV005226642]	uncertain significance	9	35806157	35806157	Human	1	name
597915225	CV3878952	single nucleotide variant	NM_003995.4(NPR2):c.1484G>T (p.Arg495Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV005222488]	uncertain significance	9	35801690	35801690	Human	1	name
597910310	CV3879373	single nucleotide variant	NM_003995.4(NPR2):c.1784T>C (p.Val595Ala)	Acromesomelic dysplasia 1, Maroteaux type [RCV005221773]	uncertain significance	9	35802576	35802576	Human	1	name
597860305	CV3879887	single nucleotide variant	NM_003995.4(NPR2):c.1516C>T (p.Arg506Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV005229466]	uncertain significance	9	35801722	35801722	Human	1	name
597913705	CV3880029	single nucleotide variant	NM_003995.4(NPR2):c.1946A>G (p.Asn649Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV005222268]	uncertain significance	9	35805569	35805569	Human	1	name
597914993	CV3880213	single nucleotide variant	NM_003995.4(NPR2):c.1688A>G (p.Gln563Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV005222453]	uncertain significance	9	35802261	35802261	Human	1	name
598127241	CV3882530	single nucleotide variant	NM_003995.4(NPR2):c.1172A>C (p.Asp391Ala)	not provided [RCV005234082]	uncertain significance	9	35800437	35800437	Human		name
598121974	CV3882725	single nucleotide variant	NM_003995.4(NPR2):c.2970G>A (p.Met990Ile)	not provided [RCV005234256]	uncertain significance	9	35808837	35808837	Human		name
598124875	CV3883717	single nucleotide variant	NM_003995.4(NPR2):c.2705T>C (p.Val902Ala)	not provided [RCV005236071]	uncertain significance	9	35807391	35807391	Human		name
598122120	CV3885159	single nucleotide variant	NM_003995.4(NPR2):c.2800G>A (p.Ala934Thr)	not specified [RCV005239736]	uncertain significance	9	35808596	35808596	Human		name
598201159	CV3892750	single nucleotide variant	NM_003995.4(NPR2):c.2343G>C (p.Gln781His)	not provided [RCV005254583]	uncertain significance	9	35806204	35806204	Human		name
598219294	CV3997861	single nucleotide variant	NM_003995.4(NPR2):c.1108G>A (p.Gly370Arg)	Inborn genetic diseases [RCV005379317]	uncertain significance	9	35800142	35800142	Human	1	name
598219298	CV3997863	single nucleotide variant	NM_003995.4(NPR2):c.2462A>C (p.Gln821Pro)	Inborn genetic diseases [RCV005379318]	uncertain significance	9	35806481	35806481	Human	1	name
598264347	CV3997864	single nucleotide variant	NM_003995.4(NPR2):c.2329C>T (p.Pro777Ser)	Inborn genetic diseases [RCV005387737]	uncertain significance	9	35806190	35806190	Human	1	name
598208643	CV4007743	single nucleotide variant	NM_003995.4(NPR2):c.2436G>C (p.Leu812Phe)	Acromesomelic dysplasia 1, Maroteaux type [RCV005400057]	uncertain significance	9	35806455	35806455	Human	1	name
616933661	CV4011620	single nucleotide variant	NM_003995.4(NPR2):c.1186G>C (p.Ala396Pro)	not specified [RCV005408168]	uncertain significance	9	35800451	35800451	Human		name
616936704	CV4016376	single nucleotide variant	NM_003995.4(NPR2):c.2969T>C (p.Met990Thr)	not provided [RCV005415242]	uncertain significance	9	35808836	35808836	Human		name
12902410	CV407705	single nucleotide variant	NM_003995.4(NPR2):c.2542C>T (p.Arg848Trp)	not provided [RCV000487025]	uncertain significance	9	35807045	35807045	Human		name
12899322	CV407706	single nucleotide variant	NM_003995.4(NPR2):c.2882A>T (p.His961Leu)	not provided [RCV000479953]	uncertain significance	9	35808678	35808678	Human		name
12893911	CV407707	single nucleotide variant	NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV003766658]\|Epilepsy, familial focal, with variable foci 2 [RCV000985136]\|NPR2-related disorder [RCV002469165]\|not provided [RCV000480765]	pathogenic\|likely pathogenic	9	35808833	35808833	Human	3	name , trait , alternate_id
12906741	CV415195	single nucleotide variant	NM_003995.4(NPR2):c.1132G>A (p.Gly378Arg)	not provided [RCV000489591]	likely pathogenic	9	35800397	35800397	Human		name
12913519	CV421758	single nucleotide variant	NM_003995.4(NPR2):c.1739C>G (p.Thr580Ser)	not provided [RCV000493917]	uncertain significance	9	35802531	35802531	Human		name
13212467	CV425850	single nucleotide variant	NM_003995.4(NPR2):c.2833C>G (p.Arg945Gly)	not provided [RCV000498863]	uncertain significance	9	35808629	35808629	Human		name
13462108	CV438816	single nucleotide variant	NM_003995.4(NPR2):c.2321C>T (p.Ala774Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV001050909]\|not provided [RCV000513739]	uncertain significance	9	35806182	35806182	Human	1	name
13477247	CV444494	single nucleotide variant	NM_003995.4(NPR2):c.1714A>T (p.Arg572Ter)	not provided [RCV000520346]	likely pathogenic	9	35802506	35802506	Human		name
13504514	CV444495	single nucleotide variant	NM_003995.4(NPR2):c.2653C>G (p.Leu885Val)	not provided [RCV000520387]	uncertain significance	9	35807339	35807339	Human		name
13481496	CV444496	single nucleotide variant	NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001851496]\|NPR2-related disorder [RCV004737596]\|not provided [RCV000521525]	pathogenic	9	35808557	35808557	Human	2	name , trait , alternate_id
13520636	CV495420	single nucleotide variant	NM_003995.4(NPR2):c.1813C>T (p.Gln605Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV005209511]\|NPR2-related disorder [RCV003994041]\|not provided [RCV000598797]	pathogenic\|likely pathogenic	9	35802605	35802605	Human	2	name , trait , alternate_id
13624495	CV524865	single nucleotide variant	NM_003995.4(NPR2):c.2644G>A (p.Val882Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV000652336]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001198873]\|not provided [RCV004723038]	uncertain significance	9	35807330	35807330	Human	1	name
13818071	CV563262	single nucleotide variant	NM_003995.4(NPR2):c.1313C>A (p.Pro438His)	Acromesomelic dysplasia 1, Maroteaux type [RCV000707442]	uncertain significance	9	35800803	35800803	Human	1	name
13833571	CV584806	single nucleotide variant	NM_003995.4(NPR2):c.1801C>T (p.Arg601Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV003106040]\|not provided [RCV000728870]	uncertain significance	9	35802593	35802593	Human	1	name
13833575	CV584810	single nucleotide variant	NM_003995.4(NPR2):c.1684C>T (p.Arg562Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001345857]\|not provided [RCV000728874]	uncertain significance	9	35802257	35802257	Human	1	name
14695801	CV622395	single nucleotide variant	NM_003995.4(NPR2):c.2713G>T (p.Val905Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV000784968]	uncertain significance	9	35808509	35808509	Human	1	name
14703235	CV638314	single nucleotide variant	NM_003995.4(NPR2):c.2260C>T (p.Arg754Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV000792814]\|Inborn genetic diseases [RCV004027426]	uncertain significance	9	35806121	35806121	Human	2	name
15181579	CV700998	single nucleotide variant	NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV000952008]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001166960]\|NPR2-related disorder [RCV004543579]	benign\|likely benign	9	35806220	35806220	Human	2	name , trait , alternate_id
15112669	CV767414	single nucleotide variant	NM_003995.4(NPR2):c.2105T>A (p.Met702Lys)	Acromesomelic dysplasia 1, Maroteaux type [RCV002066177]\|NPR2-related disorder [RCV004533603]\|not specified [RCV004702530]	likely benign\|uncertain significance	9	35805887	35805887	Human	2	name , trait , alternate_id
21068939	CV788835	single nucleotide variant	NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter)	Epilepsy, familial focal, with variable foci 2 [RCV000985134]	likely pathogenic	9	35800066	35800066	Human	1	name
21068940	CV788836	single nucleotide variant	NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001805952]\|Epilepsy, familial focal, with variable foci 2 [RCV000985135]	pathogenic\|likely pathogenic	9	35808833	35808833	Human	2	name
26899710	CV836153	single nucleotide variant	NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV001046360]\|Inborn genetic diseases [RCV004031437]	uncertain significance	9	35800803	35800803	Human	2	name
26899668	CV836155	single nucleotide variant	NM_003995.4(NPR2):c.1517G>A (p.Arg506His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001045867]	likely benign\|uncertain significance	9	35801723	35801723	Human	1	name
26900538	CV836156	single nucleotide variant	NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser)	Acromesomelic dysplasia 1, Maroteaux type [RCV001051659]	uncertain significance	9	35807063	35807063	Human	1	name
26902449	CV836157	single nucleotide variant	NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV001064788]	uncertain significance	9	35808636	35808636	Human	1	name
28886168	CV859758	single nucleotide variant	NM_003995.4(NPR2):c.2450A>C (p.Glu817Ala)	not provided [RCV001091825]	uncertain significance	9	35806469	35806469	Human		name
40815793	CV861211	single nucleotide variant	NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001261879]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003769034]	pathogenic\|uncertain significance	9	35800428	35800428	Human	1	name
40814564	CV861257	single nucleotide variant	NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	Acromesomelic dysplasia 1, Maroteaux type [RCV001262118]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001385134]\|Short stature with nonspecific skeletal abnormalities [RCV002283524]\|not provided [RCV001597245]	pathogenic\|likely pathogenic	9	35808516	35808516	Human	3	name
40815796	CV861258	single nucleotide variant	NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV001261881]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001302840]\|not provided [RCV004720763]	likely pathogenic\|uncertain significance	9	35802246	35802246	Human	1	name
40815636	CV861260	single nucleotide variant	NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV001263097]	uncertain significance	9	35800047	35800047	Human	1	name
40888530	CV861277	single nucleotide variant	NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV001263532]	pathogenic	9	35805925	35805925	Human	1	name
40886390	CV861278	single nucleotide variant	NM_003995.4(NPR2):c.2870G>A (p.Arg957His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001264759]	likely pathogenic	9	35808666	35808666	Human	1	name
28877401	CV902020	single nucleotide variant	NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166428]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001859083]	uncertain significance	9	35802594	35802594	Human	1	name
28877408	CV902021	single nucleotide variant	NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166430]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005225251]	uncertain significance	9	35806113	35806113	Human	1	name
28877414	CV902022	single nucleotide variant	NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp)	Acromesomelic dysplasia 1, Maroteaux type [RCV001166432]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001338330]	uncertain significance	9	35806212	35806212	Human	1	name
28885107	CV902026	single nucleotide variant	NM_003995.4(NPR2):c.2840G>A (p.Arg947His)	Acromesomelic dysplasia 1, Maroteaux type [RCV001168676]\|Acromesomelic dysplasia 1, Maroteaux type [RCV001859092]\|Inborn genetic diseases [RCV004032907]	uncertain significance	9	35808636	35808636	Human	2	name
38479286	CV925596	single nucleotide variant	NM_003995.4(NPR2):c.1123G>C (p.Gly375Arg)	Acromesomelic dysplasia 1, Maroteaux type [RCV001217004]	uncertain significance	9	35800157	35800157	Human	1	name
38474075	CV925597	single nucleotide variant	NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001214587]	uncertain significance	9	35800758	35800758	Human	1	name
38482194	CV925598	single nucleotide variant	NM_003995.4(NPR2):c.1547C>T (p.Thr516Ile)	Acromesomelic dysplasia 1, Maroteaux type [RCV001218351]	uncertain significance	9	35801753	35801753	Human	1	name
38491459	CV925599	single nucleotide variant	NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr)	Acromesomelic dysplasia 1, Maroteaux type [RCV001222851]\|Acromesomelic dysplasia 1, Maroteaux type [RCV005394839]\|Short stature with nonspecific skeletal abnormalities [RCV004555879]	uncertain significance	9	35802209	35802209	Human	3	name
38468357	CV955850	single nucleotide variant	NM_003995.4(NPR2):c.1198C>G (p.Leu400Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV001248019]	uncertain significance	9	35800463	35800463	Human	1	name
38462405	CV961023	single nucleotide variant	NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro)	Acromesomelic dysplasia 1, Maroteaux type [RCV001248807]	likely pathogenic	9	35800077	35800077	Human	1	name
38463815	CV961295	single nucleotide variant	NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV001249316]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003770287]\|not provided [RCV001760291]	uncertain significance\|not provided	9	35805545	35805545	Human	1	name
38598530	CV964332	single nucleotide variant	NM_003995.4(NPR2):c.1180C>T (p.Leu394Phe)	Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV001253731]	uncertain significance	9	35800445	35800445	Human	1	name
38598499	CV964333	single nucleotide variant	NM_003995.4(NPR2):c.2246G>A (p.Arg749Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV003770321]\|Short stature with nonspecific skeletal abnormalities [RCV001253681]	uncertain significance	9	35806107	35806107	Human	2	name
38597860	CV964334	single nucleotide variant	NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter)	Intellectual disability [RCV001255361]\|Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV001253230]	likely pathogenic	9	35806127	35806127	Human	3	name
126729145	CV985740	single nucleotide variant	NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys)	Short stature with nonspecific skeletal abnormalities [RCV001293679]	likely pathogenic	9	35800739	35800739	Human		name
126729192	CV985741	single nucleotide variant	NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV002241666]\|Acromesomelic dysplasia 1, Maroteaux type [RCV003770477]\|Short stature with nonspecific skeletal abnormalities [RCV001293708]	pathogenic\|likely pathogenic	9	35806160	35806160	Human	2	name
126727041	CV993482	single nucleotide variant	NM_003995.4(NPR2):c.2150T>C (p.Ile717Thr)	Acromesomelic dysplasia 1, Maroteaux type [RCV001303062]	uncertain significance	9	35805932	35805932	Human	1	name
126740627	CV993483	single nucleotide variant	NM_003995.4(NPR2):c.2629A>G (p.Ser877Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV001295789]	uncertain significance	9	35807132	35807132	Human	1	name
126726648	CV1029230	single nucleotide variant	NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys)	Acromesomelic dysplasia 1, Maroteaux type [RCV001348515]	uncertain significance	9	35809406	35809406	Human	1	name
126747567	CV1029231	single nucleotide variant	NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)	Acromesomelic dysplasia 1, Maroteaux type [RCV001337490]\|Inborn genetic diseases [RCV004035835]	likely benign\|uncertain significance	9	35809420	35809420	Human	2	name
155680113	CV1779640	single nucleotide variant	NM_003995.4(NPR2):c.3086G>T (p.Gly1029Val)	Acromesomelic dysplasia 1, Maroteaux type [RCV002305398]\|Inborn genetic diseases [RCV004958547]	uncertain significance	9	35809387	35809387	Human	2	name
156188186	CV2226745	single nucleotide variant	NM_003995.4(NPR2):c.3011C>T (p.Thr1004Ile)	Inborn genetic diseases [RCV002742684]	uncertain significance	9	35809180	35809180	Human	1	name
405073023	CV3111534	single nucleotide variant	NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)	Acromesomelic dysplasia 1, Maroteaux type [RCV003809874]	uncertain significance	9	35809419	35809419	Human	1	name
407572996	CV3498717	single nucleotide variant	NM_003995.4(NPR2):c.3017A>C (p.Lys1006Thr)	not specified [RCV004699687]	uncertain significance	9	35809186	35809186	Human		name
407574453	CV3499464	single nucleotide variant	NM_003995.4(NPR2):c.3058C>T (p.Arg1020Trp)	not provided [RCV004719458]	likely pathogenic	9	35809227	35809227	Human		name
597924168	CV3877252	single nucleotide variant	NM_003995.4(NPR2):c.3131C>T (p.Pro1044Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV005223948]	uncertain significance	9	35809432	35809432	Human	1	name
597857302	CV3877779	single nucleotide variant	NM_003995.4(NPR2):c.3119G>T (p.Arg1040Leu)	Acromesomelic dysplasia 1, Maroteaux type [RCV005229088]	uncertain significance	9	35809420	35809420	Human	1	name
598158664	CV3896942	single nucleotide variant	NM_003995.4(NPR2):c.3094C>T (p.Arg1032Ter)	not provided [RCV005367916]	likely pathogenic	9	35809395	35809395	Human		name
40814566	CV861259	single nucleotide variant	NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly)	Acromesomelic dysplasia 1, Maroteaux type [RCV001262119]	uncertain significance	9	35809198	35809198	Human	1	name
8689347	CV97435	single nucleotide variant	NM_003995.4(NPR2):c.3048G>T (p.Gln1016His)	not provided [RCV000122514]	uncertain significance	9	35809217	35809217	Human		name
41408198	CV980936	single nucleotide variant	NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)	Epilepsy, familial focal, with variable foci 2 [RCV001283791]	uncertain significance	9	35809228	35809228	Human	1	name
150455659	CV1214332	duplication	NM_003995.4(NPR2):c.673_680dup (p.Gly228fs)	not provided [RCV001596902]	likely pathogenic	9	35793900	35793901	Human		name
151761699	CV1455897	microsatellite	NM_003995.4(NPR2):c.753CTT[1] (p.Phe253del)	Acromesomelic dysplasia 1, Maroteaux type [RCV002044356]	uncertain significance	9	35793982	35793984	Human		name
11633353	CV268607	deletion	NM_003995.4(NPR2):c.1393_1396del (p.Ile465fs)	not provided [RCV000331647]	likely pathogenic	9	35801110	35801113	Human		name
408394458	CV3518276	deletion	NM_003995.4(NPR2):c.1655_1656del (p.His552fs)	Short stature with nonspecific skeletal abnormalities [RCV004759599]	likely pathogenic	9	35802228	35802229	Human		name
408393434	CV3526130	microsatellite	NM_003995.4(NPR2):c.2629_2630del (p.Ser877fs)	Short stature with nonspecific skeletal abnormalities [RCV004771562]	pathogenic	9	35807128	35807129	Human		name
12742893	CV360914	deletion	NM_003995.4(NPR2):c.2162_2172del (p.Ser721fs)	Craniosynostosis syndrome [RCV000415200]	likely pathogenic	9	35805944	35805954	Human	5	name
152984374	CV1675369	insertion	NM_003995.4(NPR2):c.125_126insTGGCG (p.Trp42fs)	Acromesomelic dysplasia 1, Maroteaux type [RCV002238732]	pathogenic	9	35792532	35792533	Human	1	name
40815637	CV861261	deletion	NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del)	Acromesomelic dysplasia 1, Maroteaux type [RCV001263098]	pathogenic\|uncertain significance	9	35809412	35809414	Human	1	name
404980844	CV2850635	indel	NM_003995.4(NPR2):c.663_664delinsAA (p.Arg222Ser)	not provided [RCV003488156]	uncertain significance	9	35793071	35793072	Human		name
12743341	CV362064	deletion	NM_003995.4(NPR2):c.1758del (p.Ala585_Cys586insTer)	Acromesomelic dysplasia 1, Maroteaux type [RCV000416331]	pathogenic	9	35802550	35802550	Human	1	name
597881991	CV3865798	indel	NM_003995.4(NPR2):c.1560_1561delinsCT (p.Gly521Ter)	Acromesomelic dysplasia 1, Maroteaux type [RCV005217463]	pathogenic	9	35801928	35801929	Human		name
150521115	CV1290177	deletion	NM_003995.4(NPR2):c.1444_1449del (p.Met482_Leu483del)	Tall stature-scoliosis-macrodactyly of the great toes syndrome [RCV001730465]	pathogenic	9	35801646	35801651	Human	1	name
152155761	CV1668422	insertion	NM_003995.4(NPR2):c.2519+3_2519+4insGGACCAAATCCTACCCCAGTG	not provided [RCV002222323]	uncertain significance	9	35806522	35806523	Human		name
597923759	CV3867461	duplication	NM_003995.4(NPR2):c.3024_3042dup (p.Phe1015delinsProArgTer)	Acromesomelic dysplasia 1, Maroteaux type [RCV005223887]	uncertain significance	9	35809185	35809186	Human	1	name

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