Xylt1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

568 records found for search term Xylt1

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150481076	CV1222094	single nucleotide variant	NM_022166.4(XYLT1):c.-5C>G	not provided [RCV001616891]	benign	16	17470801	17470801	Human		name
127246226	CV1081742	single nucleotide variant	NM_022166.4(XYLT1):c.364-6C>T	Desbuquois dysplasia 1 [RCV001394047]	likely benign	16	17358056	17358056	Human	1	name
127311083	CV1145858	single nucleotide variant	NM_022166.4(XYLT1):c.402+6T>C	Desbuquois dysplasia 1 [RCV001481334]	likely benign	16	17358006	17358006	Human	1	name
127302333	CV1157665	single nucleotide variant	NM_022166.4(XYLT1):c.913+9C>T	Desbuquois dysplasia 1 [RCV001515014]\|Desbuquois dysplasia 2 [RCV002243269]\|not provided [RCV001655750]	benign	16	17258979	17258979	Human	2	name
151820477	CV1378398	single nucleotide variant	NM_022166.4(XYLT1):c.914-9T>A	Desbuquois dysplasia 1 [RCV002029845]	likely benign\|uncertain significance	16	17200663	17200663	Human	1	name
152103829	CV1624538	single nucleotide variant	NM_022166.4(XYLT1):c.914-8T>A	Desbuquois dysplasia 1 [RCV002173445]	likely benign	16	17200662	17200662	Human	1	name
405000397	CV3077778	single nucleotide variant	NM_022166.4(XYLT1):c.364-9A>G	Desbuquois dysplasia 1 [RCV003598854]	likely benign	16	17358059	17358059	Human	1	name
597929368	CV3742070	single nucleotide variant	NM_022166.4(XYLT1):c.403-9C>G	Desbuquois dysplasia 1 [RCV005075702]	likely benign	16	17259507	17259507	Human	1	name
126743948	CV1011891	single nucleotide variant	NM_022166.4(XYLT1):c.1764+3G>A	Desbuquois dysplasia 1 [RCV001325694]\|Inborn genetic diseases [RCV002546137]	uncertain significance	16	17138352	17138352	Human	2	name
127269557	CV1103572	single nucleotide variant	NM_022166.4(XYLT1):c.2224-7G>C	Desbuquois dysplasia 1 [RCV001430309]	likely benign	16	17117986	17117986	Human	1	name
150516262	CV1216496	duplication	NM_022166.4(XYLT1):c.364-95dup	not provided [RCV001608687]	benign	16	17358130	17358131	Human		name
150514912	CV1228670	single nucleotide variant	NM_022166.4(XYLT1):c.913+29G>C	not provided [RCV001638658]	benign	16	17258959	17258959	Human		name
8658699	CV132694	single nucleotide variant	NM_022166.4(XYLT1):c.1588-3C>T	Autosomal recessive inherited pseudoxanthoma elasticum [RCV002490770]\|Desbuquois dysplasia 1 [RCV000960539]\|Desbuquois dysplasia 2 [RCV000115037]\|XYLT1-related disorder [RCV004757128]\|not provided [RCV001553443]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity	16	17138534	17138534	Human	4	name , trait , alternate_id
8657828	CV132695	single nucleotide variant	NM_022166.4(XYLT1):c.1290-2A>C	Desbuquois dysplasia 2 [RCV000115038]	pathogenic	16	17158911	17158911	Human	1	name
151769414	CV1410646	single nucleotide variant	NM_022166.4(XYLT1):c.2223+6A>C	Desbuquois dysplasia 1 [RCV001971030]	uncertain significance	16	17127660	17127660	Human	1	name
151879563	CV1411078	single nucleotide variant	NM_022166.4(XYLT1):c.1370+5C>T	Desbuquois dysplasia 1 [RCV002019960]	uncertain significance	16	17158824	17158824	Human	1	name
151810618	CV1506578	single nucleotide variant	NM_022166.4(XYLT1):c.1764+4A>G	Desbuquois dysplasia 1 [RCV001918572]	uncertain significance	16	17138351	17138351	Human	1	name
151784830	CV1508685	single nucleotide variant	NM_022166.4(XYLT1):c.1588-9C>A	Desbuquois dysplasia 1 [RCV002010077]	likely benign\|uncertain significance	16	17138540	17138540	Human	1	name
152083647	CV1554760	single nucleotide variant	NM_022166.4(XYLT1):c.914-18C>A	Desbuquois dysplasia 1 [RCV002211751]	likely benign	16	17200672	17200672	Human	1	name
152093096	CV1598620	deletion	NM_022166.4(XYLT1):c.913+15del	Desbuquois dysplasia 1 [RCV002172090]	benign	16	17258973	17258973	Human	1	name
152049005	CV1615869	single nucleotide variant	NM_022166.4(XYLT1):c.402+18C>T	Desbuquois dysplasia 1 [RCV002166625]	benign	16	17357994	17357994	Human	1	name
152048401	CV1620065	single nucleotide variant	NM_022166.4(XYLT1):c.402+18C>G	Desbuquois dysplasia 1 [RCV002207200]	likely benign	16	17357994	17357994	Human	1	name
152140104	CV1628716	single nucleotide variant	NM_022166.4(XYLT1):c.402+15T>C	Desbuquois dysplasia 1 [RCV002100655]	likely benign	16	17357997	17357997	Human	1	name
152157823	CV1630632	single nucleotide variant	NM_022166.4(XYLT1):c.363+18C>G	Desbuquois dysplasia 1 [RCV002122674]	benign	16	17470416	17470416	Human	1	name
152029994	CV1664911	single nucleotide variant	NM_022166.4(XYLT1):c.913+16G>C	Desbuquois dysplasia 1 [RCV002105778]	likely benign	16	17258972	17258972	Human	1	name
152125867	CV1665851	single nucleotide variant	NM_022166.4(XYLT1):c.1290-6C>T	Desbuquois dysplasia 1 [RCV002198664]	likely benign	16	17158915	17158915	Human	1	name
156361692	CV1899030	single nucleotide variant	NM_022166.4(XYLT1):c.403-18C>T	Desbuquois dysplasia 1 [RCV003091753]	likely benign	16	17259516	17259516	Human	1	name
156187297	CV1933892	single nucleotide variant	NM_022166.4(XYLT1):c.914-16C>G	Desbuquois dysplasia 1 [RCV002625241]	likely benign	16	17200670	17200670	Human	1	name
156449649	CV1941918	single nucleotide variant	NM_022166.4(XYLT1):c.2558-6T>C	Desbuquois dysplasia 1 [RCV003121775]	likely benign	16	17109023	17109023	Human	1	name
156067379	CV1952394	single nucleotide variant	NM_022166.4(XYLT1):c.914-12G>T	Desbuquois dysplasia 1 [RCV002569499]	likely benign	16	17200666	17200666	Human	1	name
156354129	CV2066220	single nucleotide variant	NM_022166.4(XYLT1):c.1765-8G>A	Desbuquois dysplasia 1 [RCV002812005]	uncertain significance	16	17134743	17134743	Human	1	name
156227553	CV2088853	single nucleotide variant	NM_022166.4(XYLT1):c.1371-8C>T	Desbuquois dysplasia 1 [RCV002876110]	likely benign	16	17141377	17141377	Human	1	name
156302160	CV2129556	single nucleotide variant	NM_022166.4(XYLT1):c.2224-4T>C	Desbuquois dysplasia 1 [RCV002962194]	likely benign	16	17117983	17117983	Human	1	name
155909910	CV2131135	single nucleotide variant	NM_022166.4(XYLT1):c.913+15C>T	Desbuquois dysplasia 1 [RCV002967966]	likely benign	16	17258973	17258973	Human	1	name
155940989	CV2142934	single nucleotide variant	NM_022166.4(XYLT1):c.1086+9C>G	Desbuquois dysplasia 1 [RCV002994053]	likely benign	16	17200473	17200473	Human	1	name
402521830	CV2876362	single nucleotide variant	NM_022166.4(XYLT1):c.1588-9C>T	Desbuquois dysplasia 1 [RCV003496540]	likely benign	16	17138540	17138540	Human	1	name
404992544	CV3050253	single nucleotide variant	NM_022166.4(XYLT1):c.2557+8C>A	Desbuquois dysplasia 1 [RCV003597841]\|XYLT1-related disorder [RCV004757604]	likely benign	16	17117638	17117638	Human	2	name , trait , alternate_id
405213053	CV3142634	single nucleotide variant	NM_022166.4(XYLT1):c.1587+8T>A	Desbuquois dysplasia 1 [RCV003845991]	likely benign	16	17141145	17141145	Human	1	name
597852273	CV3743380	single nucleotide variant	NM_022166.4(XYLT1):c.1588-6C>T	Desbuquois dysplasia 1 [RCV005060730]	likely benign	16	17138537	17138537	Human	1	name
597839276	CV3824927	single nucleotide variant	NM_022166.4(XYLT1):c.1765-4A>G	Desbuquois dysplasia 1 [RCV005171791]	likely benign	16	17134739	17134739	Human	1	name
597879311	CV3826234	single nucleotide variant	NM_022166.4(XYLT1):c.913+15C>G	Desbuquois dysplasia 1 [RCV005177930]	likely benign	16	17258973	17258973	Human	1	name
13518063	CV490474	single nucleotide variant	NM_022166.4(XYLT1):c.1765-3C>T	Desbuquois dysplasia 1 [RCV001499747]\|not provided [RCV000597028]	likely benign\|uncertain significance	16	17134738	17134738	Human	1	name
14393198	CV610579	single nucleotide variant	NM_022166.4(XYLT1):c.1290-1G>A	Desbuquois dysplasia 2 [RCV000758146]	pathogenic	16	17158910	17158910	Human	1	name
15125756	CV744811	single nucleotide variant	NM_022166.4(XYLT1):c.1371-5C>T	Desbuquois dysplasia 1 [RCV001481347]	likely benign	16	17141374	17141374	Human	1	name
15133530	CV788013	single nucleotide variant	NM_022166.4(XYLT1):c.2224-4T>A	Desbuquois dysplasia 1 [RCV000981566]	likely benign	16	17117983	17117983	Human	1	name
38482275	CV960137	single nucleotide variant	NM_022166.4(XYLT1):c.1086+4A>G	Desbuquois dysplasia 1 [RCV001235489]	uncertain significance	16	17200478	17200478	Human	1	name
127320466	CV1157657	single nucleotide variant	NM_022166.4(XYLT1):c.2224-12C>T	Desbuquois dysplasia 1 [RCV001522655]\|Desbuquois dysplasia 2 [RCV002243287]\|not provided [RCV001655787]	benign	16	17117991	17117991	Human	2	name
150409078	CV1191764	single nucleotide variant	NM_022166.4(XYLT1):c.913+161A>G	not provided [RCV001565541]	likely benign	16	17258827	17258827	Human		name
150510466	CV1211707	single nucleotide variant	NM_022166.4(XYLT1):c.2558-91C>T	not provided [RCV001597602]	benign	16	17109108	17109108	Human		name
150501045	CV1213274	single nucleotide variant	NM_022166.4(XYLT1):c.913+281C>T	not provided [RCV001594686]	benign	16	17258707	17258707	Human		name
150454677	CV1232318	single nucleotide variant	NM_022166.4(XYLT1):c.1086+44G>A	Desbuquois dysplasia 2 [RCV002243354]\|not provided [RCV001648331]	benign	16	17200438	17200438	Human	1	name
150457315	CV1237055	single nucleotide variant	NM_022166.4(XYLT1):c.2028-37A>C	Desbuquois dysplasia 2 [RCV002243356]\|not provided [RCV001648734]	benign	16	17127898	17127898	Human	1	name
150437537	CV1262323	single nucleotide variant	NM_022166.4(XYLT1):c.363+214G>T	not provided [RCV001678681]	benign	16	17470220	17470220	Human		name
150477378	CV1272037	single nucleotide variant	NM_022166.4(XYLT1):c.2558-90A>G	not provided [RCV001696322]	benign	16	17109107	17109107	Human		name
150531161	CV1310597	single nucleotide variant	NM_022166.4(XYLT1):c.1290-92G>A	not provided [RCV001776331]	benign	16	17159001	17159001	Human		name
152126257	CV1544716	single nucleotide variant	NM_022166.4(XYLT1):c.1087-18T>C	Desbuquois dysplasia 1 [RCV002154915]	likely benign	16	17198432	17198432	Human	1	name
152058151	CV1567463	single nucleotide variant	NM_022166.4(XYLT1):c.1764+19C>T	Desbuquois dysplasia 1 [RCV002146478]	likely benign	16	17138336	17138336	Human	1	name
152141981	CV1583564	single nucleotide variant	NM_022166.4(XYLT1):c.2558-18G>A	Desbuquois dysplasia 1 [RCV002120498]	likely benign	16	17109035	17109035	Human	1	name
152071162	CV1601168	single nucleotide variant	NM_022166.4(XYLT1):c.1764+11C>G	Desbuquois dysplasia 1 [RCV002111466]	likely benign	16	17138344	17138344	Human	1	name
152042537	CV1624259	single nucleotide variant	NM_022166.4(XYLT1):c.2557+16G>T	Desbuquois dysplasia 1 [RCV002126274]	likely benign	16	17117630	17117630	Human	1	name
152085394	CV1646790	single nucleotide variant	NM_022166.4(XYLT1):c.1289+13A>G	Desbuquois dysplasia 1 [RCV002149856]	benign	16	17198199	17198199	Human	1	name
152133620	CV1651978	single nucleotide variant	NM_022166.4(XYLT1):c.2028-14G>A	Desbuquois dysplasia 1 [RCV002199653]	likely benign	16	17127875	17127875	Human	1	name
152094856	CV1661545	single nucleotide variant	NM_022166.4(XYLT1):c.2028-15C>T	Desbuquois dysplasia 1 [RCV002172314]	benign	16	17127876	17127876	Human	1	name
152980211	CV1675880	single nucleotide variant	NM_022166.4(XYLT1):c.1587+46T>G	not provided [RCV002244471]	likely benign	16	17141107	17141107	Human		name
152980216	CV1675881	single nucleotide variant	NM_022166.4(XYLT1):c.1588-58C>A	not provided [RCV002244472]	likely benign	16	17138589	17138589	Human		name
155268038	CV1705242	single nucleotide variant	NM_022166.4(XYLT1):c.1588-93A>G	not provided [RCV002285847]	likely benign	16	17138624	17138624	Human		name
156413471	CV1887950	single nucleotide variant	NM_022166.4(XYLT1):c.2557+20A>G	Desbuquois dysplasia 1 [RCV003073303]	likely benign	16	17117626	17117626	Human	1	name
156386691	CV1891914	duplication	NM_022166.4(XYLT1):c.2028-16dup	Desbuquois dysplasia 1 [RCV003067618]	likely benign	16	17127876	17127877	Human	1	name
156192370	CV1893062	single nucleotide variant	NM_022166.4(XYLT1):c.1588-15C>G	Desbuquois dysplasia 1 [RCV003083915]	likely benign	16	17138546	17138546	Human	1	name
156321951	CV1992100	single nucleotide variant	NM_022166.4(XYLT1):c.2223+12G>C	Desbuquois dysplasia 1 [RCV002649307]	likely benign	16	17127654	17127654	Human	1	name
156199758	CV2024495	single nucleotide variant	NM_022166.4(XYLT1):c.2027+20C>T	Desbuquois dysplasia 1 [RCV002711360]	likely benign	16	17134453	17134453	Human	1	name
156274040	CV2046284	single nucleotide variant	NM_022166.4(XYLT1):c.2223+11A>G	Desbuquois dysplasia 1 [RCV002770147]	likely benign	16	17127655	17127655	Human	1	name
156106945	CV2096465	single nucleotide variant	NM_022166.4(XYLT1):c.2028-16G>C	Desbuquois dysplasia 1 [RCV002913617]	benign	16	17127877	17127877	Human	1	name
156185166	CV2102634	single nucleotide variant	NM_022166.4(XYLT1):c.1765-15A>C	Desbuquois dysplasia 1 [RCV002917275]	likely benign	16	17134750	17134750	Human	1	name
155949595	CV2164836	single nucleotide variant	NM_022166.4(XYLT1):c.1765-14T>A	Desbuquois dysplasia 1 [RCV003032360]	likely benign	16	17134749	17134749	Human	1	name
402517038	CV2862152	single nucleotide variant	NM_022166.4(XYLT1):c.2223+17T>A	Desbuquois dysplasia 1 [RCV003496121]	likely benign	16	17127649	17127649	Human	1	name
404993869	CV2943365	single nucleotide variant	NM_022166.4(XYLT1):c.1764+13C>T	Desbuquois dysplasia 1 [RCV003598196]	likely benign	16	17138342	17138342	Human	1	name
402472117	CV3171571	single nucleotide variant	NM_022166.4(XYLT1):c.1371-15C>G	Desbuquois dysplasia 1 [RCV003874355]	likely benign	16	17141384	17141384	Human	1	name
597956253	CV3754568	single nucleotide variant	NM_022166.4(XYLT1):c.2027+14G>A	Desbuquois dysplasia 1 [RCV005080418]	likely benign	16	17134459	17134459	Human	1	name
15202704	CV776135	single nucleotide variant	NM_022166.4(XYLT1):c.2223+10C>T	Desbuquois dysplasia 1 [RCV001417096]	likely benign	16	17127656	17127656	Human	1	name
150466371	CV1201233	single nucleotide variant	NM_022166.4(XYLT1):c.1087-292T>C	not provided [RCV001587713]	likely benign	16	17198706	17198706	Human		name
150468454	CV1218915	single nucleotide variant	NM_022166.4(XYLT1):c.2557+187G>A	not provided [RCV001614667]	benign	16	17117459	17117459	Human		name
150470552	CV1219267	single nucleotide variant	NM_022166.4(XYLT1):c.2224-106C>G	not provided [RCV001615019]	benign	16	17118085	17118085	Human		name
150508521	CV1229664	single nucleotide variant	NM_022166.4(XYLT1):c.1289+185G>C	not provided [RCV001636242]	benign	16	17198027	17198027	Human		name
150500851	CV1238263	single nucleotide variant	NM_022166.4(XYLT1):c.2027+240C>G	not provided [RCV001656693]	benign	16	17134233	17134233	Human		name
150508913	CV1244949	single nucleotide variant	NM_022166.4(XYLT1):c.1289+271A>G	not provided [RCV001659200]	benign	16	17197941	17197941	Human		name
150477408	CV1252009	single nucleotide variant	NM_022166.4(XYLT1):c.2557+256A>G	not provided [RCV001672208]	benign	16	17117390	17117390	Human		name
150472507	CV1259307	single nucleotide variant	NM_022166.4(XYLT1):c.2223+100G>A	not provided [RCV001684553]	benign	16	17127566	17127566	Human		name
150461722	CV1263266	single nucleotide variant	NM_022166.4(XYLT1):c.2224-146C>A	not provided [RCV001682263]	benign	16	17118125	17118125	Human		name
150438792	CV1264875	single nucleotide variant	NM_022166.4(XYLT1):c.2028-183T>C	not provided [RCV001678868]	benign	16	17128044	17128044	Human		name
150439887	CV1265034	single nucleotide variant	NM_022166.4(XYLT1):c.2223+215T>A	not provided [RCV001679027]	benign	16	17127451	17127451	Human		name
150454491	CV1266016	single nucleotide variant	NM_022166.4(XYLT1):c.2028-269G>T	not provided [RCV001692593]	benign	16	17128130	17128130	Human		name
150445060	CV1269374	duplication	NM_022166.4(XYLT1):c.1086+255dup	not provided [RCV001691061]	benign	16	17200217	17200218	Human		name
150473751	CV1281590	single nucleotide variant	NM_022166.4(XYLT1):c.2557+269T>C	not provided [RCV001713581]	benign	16	17117377	17117377	Human		name
42723570	CV965349	single nucleotide variant	NM_022166.4(XYLT1):c.913+23928C>A	Desbuquois dysplasia 2 [RCV001290302]	uncertain significance	16	17235060	17235060	Human		name
150474681	CV1251313	microsatellite	NM_022166.4(XYLT1):c.364-79GAAA[2]	not provided [RCV001671807]	benign	16	17358118	17358121	Human		name
402476528	CV3173745	single nucleotide variant	NM_022166.4(XYLT1):c.9G>A (p.Ala3=)	Desbuquois dysplasia 1 [RCV003875283]	likely benign	16	17470788	17470788	Human	1	name
156207505	CV1959394	single nucleotide variant	NM_022166.4(XYLT1):c.15G>T (p.Pro5=)	Desbuquois dysplasia 1 [RCV002575019]	likely benign	16	17470782	17470782	Human	1	name
127317201	CV1124980	single nucleotide variant	NM_022166.4(XYLT1):c.93C>T (p.Val31=)	Desbuquois dysplasia 1 [RCV001465790]	likely benign	16	17470704	17470704	Human	1	name
127317056	CV1145861	single nucleotide variant	NM_022166.4(XYLT1):c.72G>C (p.Val24=)	Desbuquois dysplasia 1 [RCV001503265]	likely benign	16	17470725	17470725	Human	1	name
127298169	CV1145862	single nucleotide variant	NM_022166.4(XYLT1):c.57C>T (p.Leu19=)	Desbuquois dysplasia 1 [RCV001497968]	likely benign	16	17470740	17470740	Human	1	name
152174847	CV1663555	deletion	NM_022166.4(XYLT1):c.2224-9_2224-8del	Desbuquois dysplasia 1 [RCV002144575]	likely benign	16	17117987	17117988	Human	1	name
156229799	CV2074871	single nucleotide variant	NM_022166.4(XYLT1):c.60G>C (p.Ala20=)	Desbuquois dysplasia 1 [RCV002830006]	likely benign	16	17470737	17470737	Human	1	name
155904408	CV2084066	single nucleotide variant	NM_022166.4(XYLT1):c.28C>T (p.Leu10=)	Desbuquois dysplasia 1 [RCV002858060]	likely benign	16	17470769	17470769	Human	1	name
404996275	CV2962287	single nucleotide variant	NM_022166.4(XYLT1):c.69G>A (p.Thr23=)	Desbuquois dysplasia 1 [RCV003598439]	likely benign	16	17470728	17470728	Human	1	name
405285112	CV3202420	single nucleotide variant	NM_022166.4(XYLT1):c.75G>C (p.Leu25=)	XYLT1-related disorder [RCV003909688]	likely benign	16	17470722	17470722	Human		name , trait , alternate_id
405295437	CV3204666	single nucleotide variant	NM_022166.4(XYLT1):c.69G>C (p.Thr23=)	XYLT1-related disorder [RCV003937347]	likely benign	16	17470728	17470728	Human		name , trait , alternate_id
38491475	CV927580	single nucleotide variant	NM_022166.4(XYLT1):c.4G>A (p.Val2Met)	Desbuquois dysplasia 1 [RCV001222863]	uncertain significance	16	17470793	17470793	Human	1	name
127254859	CV1081743	single nucleotide variant	NM_022166.4(XYLT1):c.213C>T (p.Pro71=)	Desbuquois dysplasia 1 [RCV001400880]	likely benign	16	17470584	17470584	Human	1	name
127287698	CV1124979	single nucleotide variant	NM_022166.4(XYLT1):c.246A>C (p.Gly82=)	Desbuquois dysplasia 1 [RCV001450195]	likely benign	16	17470551	17470551	Human	1	name
127301208	CV1145859	single nucleotide variant	NM_022166.4(XYLT1):c.255C>A (p.Gly85=)	Desbuquois dysplasia 1 [RCV001478616]\|not provided [RCV004704602]	likely benign	16	17470542	17470542	Human	1	name
127306251	CV1145860	single nucleotide variant	NM_022166.4(XYLT1):c.228A>G (p.Ala76=)	Desbuquois dysplasia 1 [RCV001479996]	likely benign	16	17470569	17470569	Human	1	name
151891840	CV1503117	single nucleotide variant	NM_022166.4(XYLT1):c.18C>G (p.Cys6Trp)	Desbuquois dysplasia 1 [RCV001943516]\|Inborn genetic diseases [RCV003264269]	uncertain significance	16	17470779	17470779	Human	2	name
152043130	CV1522341	single nucleotide variant	NM_022166.4(XYLT1):c.126C>T (p.Ala42=)	Desbuquois dysplasia 1 [RCV002088219]	likely benign	16	17470671	17470671	Human	1	name
152123784	CV1527566	single nucleotide variant	NM_022166.4(XYLT1):c.264A>T (p.Gly88=)	Desbuquois dysplasia 1 [RCV002081928]	likely benign	16	17470533	17470533	Human	1	name
152142973	CV1607465	single nucleotide variant	NM_022166.4(XYLT1):c.114C>G (p.Leu38=)	Desbuquois dysplasia 1 [RCV002101033]	likely benign	16	17470683	17470683	Human	1	name
152032140	CV1629330	single nucleotide variant	NM_022166.4(XYLT1):c.153C>T (p.Val51=)	Desbuquois dysplasia 1 [RCV002106303]	likely benign	16	17470644	17470644	Human	1	name
152124865	CV1630053	single nucleotide variant	NM_022166.4(XYLT1):c.258A>C (p.Gly86=)	Desbuquois dysplasia 1 [RCV002154732]\|not provided [RCV004706279]	likely benign	16	17470539	17470539	Human	1	name
156334181	CV1905851	single nucleotide variant	NM_022166.4(XYLT1):c.282G>A (p.Gln94=)	Desbuquois dysplasia 1 [RCV003089973]	likely benign	16	17470515	17470515	Human	1	name
156417179	CV1915727	single nucleotide variant	NM_022166.4(XYLT1):c.195G>C (p.Arg65=)	Desbuquois dysplasia 1 [RCV002610581]	likely benign	16	17470602	17470602	Human	1	name
156140131	CV2250696	single nucleotide variant	NM_022166.4(XYLT1):c.22C>T (p.Arg8Trp)	Inborn genetic diseases [RCV002826137]	uncertain significance	16	17470775	17470775	Human	1	name
11633769	CV264911	deletion	NM_022166.4(XYLT1):c.62del (p.Ala21fs)	not provided [RCV000368408]	pathogenic	16	17470735	17470735	Human		name
401779332	CV2680244	single nucleotide variant	NM_022166.4(XYLT1):c.14C>T (p.Pro5Leu)	Inborn genetic diseases [RCV003264386]	uncertain significance	16	17470783	17470783	Human	1	name
405007611	CV2996481	single nucleotide variant	NM_022166.4(XYLT1):c.183G>A (p.Pro61=)	Desbuquois dysplasia 1 [RCV003599525]	likely benign	16	17470614	17470614	Human	1	name
404988794	CV3022974	single nucleotide variant	NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly)	Desbuquois dysplasia 1 [RCV003597562]	uncertain significance	16	17470775	17470775	Human	1	name
404991278	CV3050134	duplication	NM_022166.4(XYLT1):c.1764+9_1764+10dup	Desbuquois dysplasia 1 [RCV003597838]	likely benign	16	17138344	17138345	Human	1	name
404999829	CV3080302	single nucleotide variant	NM_022166.4(XYLT1):c.228A>T (p.Ala76=)	Desbuquois dysplasia 1 [RCV003598817]	likely benign	16	17470569	17470569	Human	1	name
597964675	CV3830496	single nucleotide variant	NM_022166.4(XYLT1):c.207C>T (p.Asp69=)	Desbuquois dysplasia 1 [RCV005164636]	likely benign	16	17470590	17470590	Human	1	name
15129960	CV780003	duplication	NM_022166.4(XYLT1):c.1588-28_1588-3dup	Desbuquois dysplasia 1 [RCV001521180]	benign	16	17138533	17138534	Human	1	name
126909470	CV1049390	single nucleotide variant	NM_022166.4(XYLT1):c.59C>T (p.Ala20Val)	Desbuquois dysplasia 1 [RCV001368508]\|XYLT1-related disorder [RCV003953692]	likely benign\|uncertain significance	16	17470738	17470738	Human	2	name , trait , alternate_id
127236388	CV1103578	single nucleotide variant	NM_022166.4(XYLT1):c.807C>T (p.Ser269=)	Desbuquois dysplasia 1 [RCV001422495]	likely benign	16	17259094	17259094	Human	1	name
127291239	CV1124978	single nucleotide variant	NM_022166.4(XYLT1):c.711T>A (p.Pro237=)	Desbuquois dysplasia 1 [RCV001476006]	likely benign	16	17259190	17259190	Human	1	name
8657827	CV132693	duplication	NM_022166.4(XYLT1):c.276dup (p.Pro93fs)	Desbuquois dysplasia 2 [RCV000115036]	pathogenic	16	17470520	17470521	Human	1	name
151767670	CV1407879	single nucleotide variant	NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu)	Desbuquois dysplasia 1 [RCV001914668]\|Inborn genetic diseases [RCV004970380]	uncertain significance	16	17470750	17470750	Human	2	name
151821599	CV1418550	single nucleotide variant	NM_022166.4(XYLT1):c.41C>T (p.Ser14Leu)	Desbuquois dysplasia 1 [RCV001954812]\|Inborn genetic diseases [RCV002558487]	uncertain significance	16	17470756	17470756	Human	2	name
151739682	CV1490431	single nucleotide variant	NM_022166.4(XYLT1):c.94G>A (p.Val32Met)	Desbuquois dysplasia 1 [RCV001985116]	uncertain significance	16	17470703	17470703	Human	1	name
151813680	CV1494638	single nucleotide variant	NM_022166.4(XYLT1):c.558G>A (p.Pro186=)	Desbuquois dysplasia 1 [RCV001954073]	likely benign	16	17259343	17259343	Human	1	name
152141214	CV1520556	single nucleotide variant	NM_022166.4(XYLT1):c.357G>A (p.Arg119=)	Desbuquois dysplasia 1 [RCV002178081]	likely benign	16	17470440	17470440	Human	1	name
152115796	CV1553275	microsatellite	NM_022166.4(XYLT1):c.1087-14_1087-11del	Desbuquois dysplasia 1 [RCV002080872]	likely benign	16	17198425	17198428	Human		name
152152393	CV1565203	single nucleotide variant	NM_022166.4(XYLT1):c.735C>T (p.Ser245=)	Desbuquois dysplasia 1 [RCV002102428]	likely benign	16	17259166	17259166	Human	1	name
152166655	CV1566528	single nucleotide variant	NM_022166.4(XYLT1):c.657C>T (p.Pro219=)	Desbuquois dysplasia 1 [RCV002160693]	benign	16	17259244	17259244	Human	1	name
152033667	CV1572972	single nucleotide variant	NM_022166.4(XYLT1):c.987C>T (p.Ala329=)	Desbuquois dysplasia 1 [RCV002187131]	likely benign	16	17200581	17200581	Human	1	name
152119388	CV1593641	deletion	NM_022166.4(XYLT1):c.1588-35_1588-19del	Desbuquois dysplasia 1 [RCV002097940]	likely benign	16	17138550	17138566	Human	1	name
152107441	CV1605274	single nucleotide variant	NM_022166.4(XYLT1):c.708G>A (p.Pro236=)	Desbuquois dysplasia 1 [RCV002196338]	likely benign	16	17259193	17259193	Human	1	name
152105535	CV1609499	single nucleotide variant	NM_022166.4(XYLT1):c.624C>T (p.Phe208=)	Desbuquois dysplasia 1 [RCV002115887]\|not provided [RCV004715599]	benign	16	17259277	17259277	Human	1	name
152054677	CV1610026	single nucleotide variant	NM_022166.4(XYLT1):c.951C>T (p.Ser317=)	Desbuquois dysplasia 1 [RCV002167285]\|XYLT1-related disorder [RCV003950883]	benign	16	17200617	17200617	Human	2	name , trait , alternate_id
152073584	CV1615464	single nucleotide variant	NM_022166.4(XYLT1):c.306C>T (p.Pro102=)	Desbuquois dysplasia 1 [RCV002091922]	likely benign	16	17470491	17470491	Human	1	name
152043526	CV1624410	single nucleotide variant	NM_022166.4(XYLT1):c.750G>A (p.Lys250=)	Desbuquois dysplasia 1 [RCV002126393]	likely benign	16	17259151	17259151	Human	1	name
152111081	CV1634616	single nucleotide variant	NM_022166.4(XYLT1):c.546G>A (p.Ala182=)	Desbuquois dysplasia 1 [RCV002096857]	likely benign	16	17259355	17259355	Human	1	name
152147116	CV1635587	single nucleotide variant	NM_022166.4(XYLT1):c.927G>A (p.Lys309=)	Desbuquois dysplasia 1 [RCV002201401]	likely benign	16	17200641	17200641	Human	1	name
152115439	CV1654034	single nucleotide variant	NM_022166.4(XYLT1):c.930C>T (p.Asn310=)	Desbuquois dysplasia 1 [RCV002097415]	likely benign	16	17200638	17200638	Human	1	name
152056128	CV1662821	single nucleotide variant	NM_022166.4(XYLT1):c.984C>T (p.Ile328=)	Desbuquois dysplasia 1 [RCV002146252]	likely benign	16	17200584	17200584	Human	1	name
152119169	CV1664698	single nucleotide variant	NM_022166.4(XYLT1):c.541T>C (p.Leu181=)	Desbuquois dysplasia 1 [RCV002117616]	likely benign	16	17259360	17259360	Human	1	name
156186042	CV1885772	single nucleotide variant	NM_022166.4(XYLT1):c.45C>G (p.His15Gln)	Desbuquois dysplasia 1 [RCV003083716]	uncertain significance	16	17470752	17470752	Human	1	name
155992998	CV1894516	single nucleotide variant	NM_022166.4(XYLT1):c.366T>C (p.Asp122=)	Desbuquois dysplasia 1 [RCV003076203]	benign	16	17358048	17358048	Human	1	name
156414492	CV1912394	single nucleotide variant	NM_022166.4(XYLT1):c.822G>A (p.Lys274=)	Desbuquois dysplasia 1 [RCV002588641]	likely benign	16	17259079	17259079	Human	1	name
156419104	CV1929400	single nucleotide variant	NM_022166.4(XYLT1):c.630G>A (p.Gly210=)	Desbuquois dysplasia 1 [RCV002612322]	benign	16	17259271	17259271	Human	1	name
156419915	CV1967724	single nucleotide variant	NM_022166.4(XYLT1):c.975G>A (p.Pro325=)	Desbuquois dysplasia 1 [RCV002613162]	likely benign	16	17200593	17200593	Human	1	name
156297795	CV2005543	single nucleotide variant	NM_022166.4(XYLT1):c.504C>T (p.Phe168=)	Desbuquois dysplasia 1 [RCV002671025]	likely benign	16	17259397	17259397	Human	1	name
156116127	CV2058486	single nucleotide variant	NM_022166.4(XYLT1):c.693G>A (p.Lys231=)	Desbuquois dysplasia 1 [RCV002825113]	likely benign	16	17259208	17259208	Human	1	name
156394279	CV2141147	single nucleotide variant	NM_022166.4(XYLT1):c.570G>A (p.Lys190=)	Desbuquois dysplasia 1 [RCV002944251]	likely benign	16	17259331	17259331	Human	1	name
402521516	CV2879587	single nucleotide variant	NM_022166.4(XYLT1):c.906C>T (p.Pro302=)	Desbuquois dysplasia 1 [RCV003496490]	likely benign	16	17258995	17258995	Human	1	name
402504525	CV2895786	single nucleotide variant	NM_022166.4(XYLT1):c.351C>T (p.Pro117=)	Desbuquois dysplasia 1 [RCV003494850]	likely benign	16	17470446	17470446	Human	1	name
402511964	CV2919659	single nucleotide variant	NM_022166.4(XYLT1):c.981A>G (p.Arg327=)	Desbuquois dysplasia 1 [RCV003495714]	likely benign	16	17200587	17200587	Human	1	name
405002359	CV2973621	single nucleotide variant	NM_022166.4(XYLT1):c.649C>T (p.Leu217=)	Desbuquois dysplasia 1 [RCV003599065]	likely benign	16	17259252	17259252	Human	1	name
405001624	CV2975885	single nucleotide variant	NM_022166.4(XYLT1):c.888G>A (p.Lys296=)	Desbuquois dysplasia 1 [RCV003599016]	likely benign	16	17259013	17259013	Human	1	name
404992342	CV3048608	single nucleotide variant	NM_022166.4(XYLT1):c.537T>C (p.Pro179=)	Desbuquois dysplasia 1 [RCV003597949]	likely benign	16	17259364	17259364	Human	1	name
597928766	CV3837337	single nucleotide variant	NM_022166.4(XYLT1):c.456C>T (p.Asn152=)	Desbuquois dysplasia 1 [RCV005185495]	likely benign	16	17259445	17259445	Human	1	name
597964568	CV3848089	single nucleotide variant	NM_022166.4(XYLT1):c.942C>T (p.Asp314=)	Desbuquois dysplasia 1 [RCV005193968]	likely benign	16	17200626	17200626	Human	1	name
15163774	CV714767	single nucleotide variant	NM_022166.4(XYLT1):c.606A>G (p.Lys202=)	Desbuquois dysplasia 1 [RCV000970560]\|not provided [RCV004715364]	benign	16	17259295	17259295	Human	1	name
15198185	CV726468	single nucleotide variant	NM_022166.4(XYLT1):c.615A>G (p.Gly205=)	Desbuquois dysplasia 1 [RCV000890279]	likely benign	16	17259286	17259286	Human	1	name
15177531	CV739998	single nucleotide variant	NM_022166.4(XYLT1):c.426G>A (p.Pro142=)	not provided [RCV000906673]	likely benign	16	17259475	17259475	Human		name
126755604	CV996651	single nucleotide variant	NM_022166.4(XYLT1):c.88C>G (p.Leu30Val)	Desbuquois dysplasia 1 [RCV001307902]	uncertain significance	16	17470709	17470709	Human	1	name
126766783	CV1011899	single nucleotide variant	NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu)	Desbuquois dysplasia 1 [RCV001320585]\|Inborn genetic diseases [RCV004035009]	uncertain significance	16	17470624	17470624	Human	2	name
126745051	CV1032391	single nucleotide variant	NM_022166.4(XYLT1):c.2766G>A (p.Thr922=)	Desbuquois dysplasia 1 [RCV001337159]	likely benign\|uncertain significance	16	17108809	17108809	Human	1	name
126768348	CV1032395	single nucleotide variant	NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu)	Desbuquois dysplasia 1 [RCV001343306]	uncertain significance	16	17470504	17470504	Human	1	name
126773061	CV1032397	single nucleotide variant	NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu)	Desbuquois dysplasia 1 [RCV001345975]	uncertain significance	16	17470636	17470636	Human	1	name
126912495	CV1049389	single nucleotide variant	NM_022166.4(XYLT1):c.152T>C (p.Val51Ala)	Desbuquois dysplasia 1 [RCV001369754]\|Inborn genetic diseases [RCV002548625]	uncertain significance	16	17470645	17470645	Human	2	name
127270707	CV1081739	single nucleotide variant	NM_022166.4(XYLT1):c.2430C>T (p.Pro810=)	Desbuquois dysplasia 1 [RCV001405087]	likely benign	16	17117773	17117773	Human	1	name
127235782	CV1081740	single nucleotide variant	NM_022166.4(XYLT1):c.1953G>A (p.Leu651=)	Desbuquois dysplasia 1 [RCV001396767]	likely benign	16	17134547	17134547	Human	1	name
127248155	CV1081741	single nucleotide variant	NM_022166.4(XYLT1):c.1875G>A (p.Pro625=)	Desbuquois dysplasia 1 [RCV001399293]\|not provided [RCV004704525]	likely benign	16	17134625	17134625	Human	1	name
127276594	CV1103569	single nucleotide variant	NM_022166.4(XYLT1):c.2865T>C (p.Asp955=)	Desbuquois dysplasia 1 [RCV001432894]	likely benign	16	17108710	17108710	Human	1	name
127275569	CV1103571	single nucleotide variant	NM_022166.4(XYLT1):c.2535G>C (p.Ser845=)	Desbuquois dysplasia 1 [RCV001443376]	likely benign	16	17117668	17117668	Human	1	name
127258713	CV1103574	single nucleotide variant	NM_022166.4(XYLT1):c.1938C>T (p.Asp646=)	Desbuquois dysplasia 1 [RCV001438217]	likely benign	16	17134562	17134562	Human	1	name
127234484	CV1103575	single nucleotide variant	NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=)	Desbuquois dysplasia 1 [RCV001422054]\|XYLT1-related disorder [RCV003920919]	likely benign	16	17134595	17134595	Human	2	name , trait , alternate_id
127248791	CV1103576	single nucleotide variant	NM_022166.4(XYLT1):c.1629C>T (p.Asp543=)	Desbuquois dysplasia 1 [RCV001435924]	likely benign	16	17138490	17138490	Human	1	name
127235842	CV1103577	single nucleotide variant	NM_022166.4(XYLT1):c.1191C>G (p.Leu397=)	Desbuquois dysplasia 1 [RCV001433198]	likely benign	16	17198310	17198310	Human	1	name
127294005	CV1124976	single nucleotide variant	NM_022166.4(XYLT1):c.2298G>A (p.Pro766=)	Desbuquois dysplasia 1 [RCV001459332]	likely benign	16	17117905	17117905	Human	1	name
127336636	CV1124977	single nucleotide variant	NM_022166.4(XYLT1):c.1227G>A (p.Leu409=)	Desbuquois dysplasia 1 [RCV001475107]	likely benign	16	17198274	17198274	Human	1	name
127326544	CV1145853	single nucleotide variant	NM_022166.4(XYLT1):c.2766G>C (p.Thr922=)	Desbuquois dysplasia 1 [RCV001506347]	likely benign	16	17108809	17108809	Human	1	name
127318439	CV1145854	single nucleotide variant	NM_022166.4(XYLT1):c.2694G>A (p.Thr898=)	Desbuquois dysplasia 1 [RCV001503692]	likely benign	16	17108881	17108881	Human	1	name
127319870	CV1145855	single nucleotide variant	NM_022166.4(XYLT1):c.1518G>A (p.Val506=)	Desbuquois dysplasia 1 [RCV001484004]	likely benign	16	17141222	17141222	Human	1	name
127312095	CV1145856	single nucleotide variant	NM_022166.4(XYLT1):c.1416C>T (p.Asp472=)	Desbuquois dysplasia 1 [RCV001501808]	likely benign	16	17141324	17141324	Human	1	name
127313413	CV1145857	single nucleotide variant	NM_022166.4(XYLT1):c.1353C>T (p.His451=)	Desbuquois dysplasia 1 [RCV001481987]\|XYLT1-related disorder [RCV003980411]	likely benign	16	17158846	17158846	Human	2	name , trait , alternate_id
127307777	CV1157653	single nucleotide variant	NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)	Desbuquois dysplasia 1 [RCV001517254]\|Desbuquois dysplasia 2 [RCV002243270]\|not provided [RCV001712927]	benign	16	17108944	17108944	Human	2	name
127317338	CV1157655	single nucleotide variant	NM_022166.4(XYLT1):c.2331T>C (p.Asn777=)	Desbuquois dysplasia 1 [RCV001521051]\|Desbuquois dysplasia 2 [RCV002243279]\|not provided [RCV001655780]	benign	16	17117872	17117872	Human	2	name
127312648	CV1157659	single nucleotide variant	NM_022166.4(XYLT1):c.1989C>T (p.Ala663=)	Desbuquois dysplasia 1 [RCV001519014]\|Desbuquois dysplasia 2 [RCV002243275]\|not provided [RCV001692421]	benign	16	17134511	17134511	Human	2	name
127306731	CV1157660	single nucleotide variant	NM_022166.4(XYLT1):c.1935C>T (p.Ser645=)	Desbuquois dysplasia 1 [RCV001516784]	benign	16	17134565	17134565	Human	1	name
127299694	CV1157661	single nucleotide variant	NM_022166.4(XYLT1):c.1854G>T (p.Gly618=)	Desbuquois dysplasia 1 [RCV001513808]\|not provided [RCV004809662]	benign\|likely benign	16	17134646	17134646	Human	1	name
127320007	CV1157662	single nucleotide variant	NM_022166.4(XYLT1):c.1284C>G (p.Pro428=)	Desbuquois dysplasia 1 [RCV001522414]\|Desbuquois dysplasia 2 [RCV002243286]\|not provided [RCV001655785]	benign	16	17198217	17198217	Human	2	name
127293788	CV1157663	single nucleotide variant	NM_022166.4(XYLT1):c.1077C>T (p.His359=)	Desbuquois dysplasia 1 [RCV001511487]\|Desbuquois dysplasia 2 [RCV002243261]\|not provided [RCV001567366]	benign\|likely benign	16	17200491	17200491	Human	2	name
127294443	CV1157664	single nucleotide variant	NM_022166.4(XYLT1):c.1044C>T (p.Ala348=)	Desbuquois dysplasia 1 [RCV001511749]	benign	16	17200524	17200524	Human	1	name
151717174	CV1346331	single nucleotide variant	NM_022166.4(XYLT1):c.1479G>A (p.Ser493=)	Desbuquois dysplasia 1 [RCV001965398]	likely benign\|uncertain significance	16	17141261	17141261	Human	1	name
151824140	CV1349533	single nucleotide variant	NM_022166.4(XYLT1):c.182C>G (p.Pro61Arg)	Desbuquois dysplasia 1 [RCV001934435]\|Inborn genetic diseases [RCV002562182]	uncertain significance	16	17470615	17470615	Human	2	name
151801003	CV1354131	single nucleotide variant	NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys)	Desbuquois dysplasia 1 [RCV001867125]	uncertain significance	16	17470667	17470667	Human	1	name
151752770	CV1407201	single nucleotide variant	NM_022166.4(XYLT1):c.188C>G (p.Pro63Arg)	Desbuquois dysplasia 1 [RCV002023559]	uncertain significance	16	17470609	17470609	Human	1	name
151795839	CV1437707	single nucleotide variant	NM_022166.4(XYLT1):c.1638G>A (p.Val546=)	Desbuquois dysplasia 1 [RCV001876929]	likely benign\|uncertain significance	16	17138481	17138481	Human	1	name
151837101	CV1468008	single nucleotide variant	NM_022166.4(XYLT1):c.2784G>A (p.Pro928=)	Desbuquois dysplasia 1 [RCV001956295]	likely benign	16	17108791	17108791	Human	1	name
151865655	CV1477564	single nucleotide variant	NM_022166.4(XYLT1):c.179C>T (p.Ala60Val)	Desbuquois dysplasia 1 [RCV001939127]\|Inborn genetic diseases [RCV002560648]	uncertain significance	16	17470618	17470618	Human	2	name
151765931	CV1495914	single nucleotide variant	NM_022166.4(XYLT1):c.287G>C (p.Arg96Pro)	Desbuquois dysplasia 1 [RCV001863603]\|Inborn genetic diseases [RCV003355570]	uncertain significance	16	17470510	17470510	Human	2	name
152094719	CV1533818	single nucleotide variant	NM_022166.4(XYLT1):c.1225C>T (p.Leu409=)	Desbuquois dysplasia 1 [RCV002151046]	likely benign	16	17198276	17198276	Human	1	name
152030430	CV1534214	single nucleotide variant	NM_022166.4(XYLT1):c.1917C>T (p.Asp639=)	Desbuquois dysplasia 1 [RCV002086134]	likely benign	16	17134583	17134583	Human	1	name
152164838	CV1543620	single nucleotide variant	NM_022166.4(XYLT1):c.2457G>T (p.Gly819=)	Desbuquois dysplasia 1 [RCV002123885]	likely benign	16	17117746	17117746	Human	1	name
152041255	CV1553490	single nucleotide variant	NM_022166.4(XYLT1):c.1848G>C (p.Leu616=)	Desbuquois dysplasia 1 [RCV002087993]	benign	16	17134652	17134652	Human	1	name
152052779	CV1587499	single nucleotide variant	NM_022166.4(XYLT1):c.2520G>A (p.Ala840=)	Desbuquois dysplasia 1 [RCV002145887]	likely benign	16	17117683	17117683	Human	1	name
152069843	CV1589262	single nucleotide variant	NM_022166.4(XYLT1):c.1995G>A (p.Thr665=)	Desbuquois dysplasia 1 [RCV002209833]	likely benign	16	17134505	17134505	Human	1	name
152046233	CV1591203	single nucleotide variant	NM_022166.4(XYLT1):c.2466A>G (p.Thr822=)	Desbuquois dysplasia 1 [RCV002188855]	likely benign	16	17117737	17117737	Human	1	name
152170160	CV1592290	single nucleotide variant	NM_022166.4(XYLT1):c.1140T>C (p.Asn380=)	Desbuquois dysplasia 1 [RCV002161677]	likely benign	16	17198361	17198361	Human	1	name
152162310	CV1608828	single nucleotide variant	NM_022166.4(XYLT1):c.1533C>T (p.Asp511=)	Desbuquois dysplasia 1 [RCV002104030]	likely benign	16	17141207	17141207	Human	1	name
152158301	CV1616111	single nucleotide variant	NM_022166.4(XYLT1):c.2358T>C (p.Asp786=)	Desbuquois dysplasia 1 [RCV002159174]\|not provided [RCV003458132]	benign\|likely benign	16	17117845	17117845	Human	1	name
152132249	CV1621331	single nucleotide variant	NM_022166.4(XYLT1):c.2337C>A (p.Thr779=)	Desbuquois dysplasia 1 [RCV002218232]	likely benign	16	17117866	17117866	Human	1	name
152083212	CV1623771	single nucleotide variant	NM_022166.4(XYLT1):c.2163G>A (p.Pro721=)	Desbuquois dysplasia 1 [RCV002149582]\|Inborn genetic diseases [RCV004686720]	likely benign	16	17127726	17127726	Human	2	name
152075620	CV1632564	single nucleotide variant	NM_022166.4(XYLT1):c.1413C>T (p.Cys471=)	Desbuquois dysplasia 1 [RCV002169873]	likely benign	16	17141327	17141327	Human	1	name
152056566	CV1635071	single nucleotide variant	NM_022166.4(XYLT1):c.1032C>T (p.Arg344=)	Desbuquois dysplasia 1 [RCV002089780]	likely benign	16	17200536	17200536	Human	1	name
152128520	CV1637315	single nucleotide variant	NM_022166.4(XYLT1):c.1311G>A (p.Ala437=)	Desbuquois dysplasia 1 [RCV002217744]	likely benign	16	17158888	17158888	Human	1	name
152059995	CV1650383	single nucleotide variant	NM_022166.4(XYLT1):c.1590C>T (p.Ser530=)	Desbuquois dysplasia 1 [RCV002128229]	likely benign	16	17138529	17138529	Human	1	name
152079077	CV1663334	single nucleotide variant	NM_022166.4(XYLT1):c.2004C>T (p.His668=)	Desbuquois dysplasia 1 [RCV002149067]\|XYLT1-related disorder [RCV003895992]	likely benign	16	17134496	17134496	Human	2	name , trait , alternate_id
155981470	CV1883134	single nucleotide variant	NM_022166.4(XYLT1):c.2220C>T (p.Ser740=)	Desbuquois dysplasia 1 [RCV003075679]	likely benign	16	17127669	17127669	Human	1	name
156048259	CV1884228	single nucleotide variant	NM_022166.4(XYLT1):c.2409C>T (p.Ala803=)	Desbuquois dysplasia 1 [RCV003078775]	likely benign	16	17117794	17117794	Human	1	name
156091941	CV1895624	single nucleotide variant	NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg)	Desbuquois dysplasia 1 [RCV003080254]	uncertain significance	16	17470676	17470676	Human	1	name
156022242	CV1899362	single nucleotide variant	NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=)	Desbuquois dysplasia 1 [RCV003100254]	likely benign	16	17117779	17117779	Human	1	name
156285350	CV1904404	single nucleotide variant	NM_022166.4(XYLT1):c.178G>A (p.Ala60Thr)	Desbuquois dysplasia 1 [RCV002598537]	uncertain significance	16	17470619	17470619	Human	1	name
156099526	CV1920643	single nucleotide variant	NM_022166.4(XYLT1):c.2682C>T (p.Asn894=)	Desbuquois dysplasia 1 [RCV002592222]	likely benign	16	17108893	17108893	Human	1	name
156409901	CV1922954	single nucleotide variant	NM_022166.4(XYLT1):c.1659C>T (p.Thr553=)	Desbuquois dysplasia 1 [RCV002607697]	likely benign	16	17138460	17138460	Human	1	name
156419227	CV1922992	single nucleotide variant	NM_022166.4(XYLT1):c.2703G>A (p.Ala901=)	Desbuquois dysplasia 1 [RCV002612447]	likely benign	16	17108872	17108872	Human	1	name
156419190	CV1926272	single nucleotide variant	NM_022166.4(XYLT1):c.2337C>T (p.Thr779=)	Desbuquois dysplasia 1 [RCV002612409]	likely benign	16	17117866	17117866	Human	1	name
156418993	CV1929156	single nucleotide variant	NM_022166.4(XYLT1):c.2145G>A (p.Leu715=)	Desbuquois dysplasia 1 [RCV002612205]	likely benign	16	17127744	17127744	Human	1	name
156302873	CV1933599	single nucleotide variant	NM_022166.4(XYLT1):c.1275C>T (p.Ala425=)	Desbuquois dysplasia 1 [RCV002629337]	likely benign	16	17198226	17198226	Human	1	name
156123214	CV1933607	single nucleotide variant	NM_022166.4(XYLT1):c.1011T>A (p.Arg337=)	Desbuquois dysplasia 1 [RCV002640407]	likely benign	16	17200557	17200557	Human	1	name
156187267	CV1933891	single nucleotide variant	NM_022166.4(XYLT1):c.2808G>A (p.Thr936=)	Desbuquois dysplasia 1 [RCV002625240]	likely benign	16	17108767	17108767	Human	1	name
156221721	CV1960268	single nucleotide variant	NM_022166.4(XYLT1):c.1272G>T (p.Ala424=)	Desbuquois dysplasia 1 [RCV002575553]	likely benign	16	17198229	17198229	Human	1	name
156413434	CV1969071	single nucleotide variant	NM_022166.4(XYLT1):c.1074C>A (p.Ile358=)	Desbuquois dysplasia 1 [RCV002608835]	likely benign	16	17200494	17200494	Human	1	name
156400004	CV1981660	single nucleotide variant	NM_022166.4(XYLT1):c.2418A>G (p.Thr806=)	Desbuquois dysplasia 1 [RCV002605509]	likely benign	16	17117785	17117785	Human	1	name
156223872	CV2005871	single nucleotide variant	NM_022166.4(XYLT1):c.2640C>T (p.Ser880=)	Desbuquois dysplasia 1 [RCV002667328]	likely benign	16	17108935	17108935	Human	1	name
156147828	CV2052814	single nucleotide variant	NM_022166.4(XYLT1):c.197A>T (p.Glu66Val)	Desbuquois dysplasia 1 [RCV002801192]	uncertain significance	16	17470600	17470600	Human	1	name
156247120	CV2086259	single nucleotide variant	NM_022166.4(XYLT1):c.1530A>G (p.Thr510=)	Desbuquois dysplasia 1 [RCV002876809]	likely benign	16	17141210	17141210	Human	1	name
155950188	CV2109744	single nucleotide variant	NM_022166.4(XYLT1):c.2385C>T (p.Tyr795=)	Desbuquois dysplasia 1 [RCV002905020]	likely benign	16	17117818	17117818	Human	1	name
156025004	CV2112374	single nucleotide variant	NM_022166.4(XYLT1):c.2322G>A (p.Lys774=)	Desbuquois dysplasia 1 [RCV002909795]	likely benign	16	17117881	17117881	Human	1	name
156023782	CV2128758	single nucleotide variant	NM_022166.4(XYLT1):c.176C>A (p.Pro59Gln)	Desbuquois dysplasia 1 [RCV002948901]\|Inborn genetic diseases [RCV002966050]	uncertain significance	16	17470621	17470621	Human	2	name
156256435	CV2159222	single nucleotide variant	NM_022166.4(XYLT1):c.1224C>T (p.Leu408=)	Desbuquois dysplasia 1 [RCV003026515]	likely benign	16	17198277	17198277	Human	1	name
156140646	CV2167612	single nucleotide variant	NM_022166.4(XYLT1):c.2421C>T (p.His807=)	Desbuquois dysplasia 1 [RCV003022508]	likely benign	16	17117782	17117782	Human	1	name
156158254	CV2398013	single nucleotide variant	NM_022166.4(XYLT1):c.197A>G (p.Glu66Gly)	Inborn genetic diseases [RCV002764547]	uncertain significance	16	17470600	17470600	Human	1	name
329393520	CV2453408	single nucleotide variant	NM_022166.4(XYLT1):c.176C>T (p.Pro59Leu)	Inborn genetic diseases [RCV003193213]	uncertain significance	16	17470621	17470621	Human	1	name
401746019	CV2693397	single nucleotide variant	NM_022166.4(XYLT1):c.161G>C (p.Gly54Ala)	Inborn genetic diseases [RCV003241914]	uncertain significance	16	17470636	17470636	Human	1	name
401934391	CV2807680	single nucleotide variant	NM_022166.4(XYLT1):c.1218G>A (p.Arg406=)	Desbuquois dysplasia 1 [RCV003598174]\|not provided [RCV003411282]	likely benign	16	17198283	17198283	Human	1	name
402518586	CV2856950	single nucleotide variant	NM_022166.4(XYLT1):c.1464C>T (p.Ala488=)	Desbuquois dysplasia 1 [RCV003496255]	likely benign	16	17141276	17141276	Human	1	name
404995086	CV2939034	single nucleotide variant	NM_022166.4(XYLT1):c.1236C>T (p.Thr412=)	Desbuquois dysplasia 1 [RCV003598310]	likely benign	16	17198265	17198265	Human	1	name
405000447	CV2952169	single nucleotide variant	NM_022166.4(XYLT1):c.2733C>A (p.Gly911=)	Desbuquois dysplasia 1 [RCV003598861]	likely benign	16	17108842	17108842	Human	1	name
404994881	CV2953142	single nucleotide variant	NM_022166.4(XYLT1):c.1677G>A (p.Leu559=)	Desbuquois dysplasia 1 [RCV003598325]	likely benign	16	17138442	17138442	Human	1	name
404996351	CV2955826	single nucleotide variant	NM_022166.4(XYLT1):c.2566C>T (p.Leu856=)	Desbuquois dysplasia 1 [RCV003598447]	likely benign	16	17109009	17109009	Human	1	name
405006920	CV2992077	single nucleotide variant	NM_022166.4(XYLT1):c.1606C>T (p.Leu536=)	Desbuquois dysplasia 1 [RCV003599463]	likely benign	16	17138513	17138513	Human	1	name
404989950	CV3021110	single nucleotide variant	NM_022166.4(XYLT1):c.2856C>T (p.Val952=)	Desbuquois dysplasia 1 [RCV003597677]	likely benign	16	17108719	17108719	Human	1	name
404992449	CV3042492	single nucleotide variant	NM_022166.4(XYLT1):c.2607G>A (p.Glu869=)	Desbuquois dysplasia 1 [RCV003597787]	likely benign	16	17108968	17108968	Human	1	name
404996680	CV3049470	single nucleotide variant	NM_022166.4(XYLT1):c.1221C>T (p.Asp407=)	Desbuquois dysplasia 1 [RCV003598478]	likely benign	16	17198280	17198280	Human	1	name
404997529	CV3064345	single nucleotide variant	NM_022166.4(XYLT1):c.1806C>T (p.Ala602=)	Desbuquois dysplasia 1 [RCV003598559]	likely benign	16	17134694	17134694	Human	1	name
404998628	CV3068486	single nucleotide variant	NM_022166.4(XYLT1):c.2319G>A (p.Gly773=)	Desbuquois dysplasia 1 [RCV003598570]	likely benign	16	17117884	17117884	Human	1	name
404999776	CV3072239	single nucleotide variant	NM_022166.4(XYLT1):c.1734C>T (p.Asp578=)	Desbuquois dysplasia 1 [RCV003598811]	likely benign	16	17138385	17138385	Human	1	name
404998884	CV3078657	single nucleotide variant	NM_022166.4(XYLT1):c.2181C>T (p.Ile727=)	Desbuquois dysplasia 1 [RCV003598689]	likely benign	16	17127708	17127708	Human	1	name
405089273	CV3118402	single nucleotide variant	NM_022166.4(XYLT1):c.2481C>T (p.His827=)	Desbuquois dysplasia 1 [RCV003811044]	likely benign	16	17117722	17117722	Human	1	name
402525166	CV3123683	single nucleotide variant	NM_022166.4(XYLT1):c.143G>T (p.Gly48Val)	Desbuquois dysplasia 1 [RCV003825109]	uncertain significance	16	17470654	17470654	Human	1	name
405160192	CV3125019	single nucleotide variant	NM_022166.4(XYLT1):c.1284C>A (p.Pro428=)	Desbuquois dysplasia 1 [RCV003818290]	likely benign	16	17198217	17198217	Human	1	name
405056089	CV3151516	single nucleotide variant	NM_022166.4(XYLT1):c.1008C>T (p.Gly336=)	Desbuquois dysplasia 1 [RCV003849926]	likely benign	16	17200560	17200560	Human	1	name
407456266	CV3493740	single nucleotide variant	NM_022166.4(XYLT1):c.182C>T (p.Pro61Leu)	Inborn genetic diseases [RCV004685886]	uncertain significance	16	17470615	17470615	Human	1	name
597959946	CV3746136	single nucleotide variant	NM_022166.4(XYLT1):c.1887C>T (p.Ser629=)	Desbuquois dysplasia 1 [RCV005081384]	likely benign	16	17134613	17134613	Human	1	name
597961521	CV3753265	single nucleotide variant	NM_022166.4(XYLT1):c.1617C>T (p.Ser539=)	Desbuquois dysplasia 1 [RCV005081765]	likely benign	16	17138502	17138502	Human	1	name
597942870	CV3757885	single nucleotide variant	NM_022166.4(XYLT1):c.127G>C (p.Gly43Arg)	Desbuquois dysplasia 1 [RCV005077884]	uncertain significance	16	17470670	17470670	Human	1	name
597856043	CV3758742	single nucleotide variant	NM_022166.4(XYLT1):c.1944A>G (p.Thr648=)	Desbuquois dysplasia 1 [RCV005088702]	likely benign	16	17134556	17134556	Human	1	name
597864381	CV3767037	single nucleotide variant	NM_022166.4(XYLT1):c.1146C>T (p.Arg382=)	Desbuquois dysplasia 1 [RCV005106559]	likely benign	16	17198355	17198355	Human	1	name
597955904	CV3787225	single nucleotide variant	NM_022166.4(XYLT1):c.1911G>A (p.Glu637=)	Desbuquois dysplasia 1 [RCV005122110]	likely benign	16	17134589	17134589	Human	1	name
597975817	CV3828712	single nucleotide variant	NM_022166.4(XYLT1):c.2778C>T (p.Ala926=)	Desbuquois dysplasia 1 [RCV005169341]	likely benign	16	17108797	17108797	Human	1	name
597975070	CV3832202	single nucleotide variant	NM_022166.4(XYLT1):c.1185C>T (p.Ala395=)	Desbuquois dysplasia 1 [RCV005168938]	likely benign	16	17198316	17198316	Human	1	name
597893672	CV3833459	single nucleotide variant	NM_022166.4(XYLT1):c.2673A>G (p.Ala891=)	Desbuquois dysplasia 1 [RCV005180151]	likely benign	16	17108902	17108902	Human	1	name
597864313	CV3861034	single nucleotide variant	NM_022166.4(XYLT1):c.107G>A (p.Ser36Asn)	Desbuquois dysplasia 1 [RCV005196382]	uncertain significance	16	17470690	17470690	Human	1	name
598195767	CV3933861	single nucleotide variant	NM_022166.4(XYLT1):c.191G>T (p.Arg64Leu)	Inborn genetic diseases [RCV005313391]	uncertain significance	16	17470606	17470606	Human	1	name
13493030	CV465131	single nucleotide variant	NM_022166.4(XYLT1):c.1272G>A (p.Ala424=)	Desbuquois dysplasia 1 [RCV000535388]\|not provided [RCV004546519]	benign\|likely benign	16	17198229	17198229	Human	1	name
13624337	CV529523	single nucleotide variant	NM_022166.4(XYLT1):c.2007G>A (p.Thr669=)	Desbuquois dysplasia 1 [RCV000652127]\|XYLT1-related disorder [RCV003905770]	likely benign	16	17134493	17134493	Human	2	name , trait , alternate_id
13804814	CV573744	single nucleotide variant	NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)	Desbuquois dysplasia 1 [RCV000699749]\|XYLT1-related disorder [RCV003907952]\|not provided [RCV001771984]	likely benign\|uncertain significance	16	17470643	17470643	Human	2	name , trait , alternate_id
14706445	CV643964	single nucleotide variant	NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)	Desbuquois dysplasia 1 [RCV000791998]\|Inborn genetic diseases [RCV002536935]\|not provided [RCV004692241]	uncertain significance	16	17470658	17470658	Human	2	name
14746554	CV656338	single nucleotide variant	NM_022166.4(XYLT1):c.2655C>T (p.Pro885=)	Desbuquois dysplasia 1 [RCV001519013]\|Desbuquois dysplasia 2 [RCV002245709]\|not provided [RCV000844578]	benign	16	17108920	17108920	Human	2	name
15102247	CV703528	single nucleotide variant	NM_022166.4(XYLT1):c.2370C>A (p.Val790=)	Desbuquois dysplasia 1 [RCV000959254]\|not provided [RCV004716643]	benign	16	17117833	17117833	Human	1	name
15179014	CV714763	single nucleotide variant	NM_022166.4(XYLT1):c.1743G>A (p.Pro581=)	Desbuquois dysplasia 1 [RCV000973807]\|XYLT1-related disorder [RCV004757357]\|not provided [RCV002245793]	benign\|likely benign	16	17138376	17138376	Human	2	name , trait , alternate_id
15149124	CV714764	single nucleotide variant	NM_022166.4(XYLT1):c.1704C>T (p.Ile568=)	Desbuquois dysplasia 1 [RCV000967693]\|not provided [RCV003222181]	likely benign	16	17138415	17138415	Human	1	name
15166504	CV714765	single nucleotide variant	NM_022166.4(XYLT1):c.1626C>T (p.Cys542=)	Desbuquois dysplasia 1 [RCV000971195]\|XYLT1-related disorder [RCV003972912]	benign\|likely benign	16	17138493	17138493	Human	2	name , trait , alternate_id
15189668	CV726464	single nucleotide variant	NM_022166.4(XYLT1):c.2226C>T (p.Val742=)	Desbuquois dysplasia 1 [RCV000887884]\|not provided [RCV005411601]	benign\|likely benign	16	17117977	17117977	Human	1	name
15103976	CV726466	single nucleotide variant	NM_022166.4(XYLT1):c.1602G>A (p.Thr534=)	Desbuquois dysplasia 1 [RCV000892791]\|XYLT1-related disorder [RCV004757304]\|not provided [RCV004705885]	likely benign	16	17138517	17138517	Human	2	name , trait , alternate_id
15180362	CV726467	single nucleotide variant	NM_022166.4(XYLT1):c.1266G>A (p.Leu422=)	not provided [RCV000885509]	likely benign	16	17198235	17198235	Human		name
15179492	CV739997	single nucleotide variant	NM_022166.4(XYLT1):c.1716C>T (p.Cys572=)	Desbuquois dysplasia 1 [RCV000907124]\|XYLT1-related disorder [RCV003950674]\|not provided [RCV004705904]	likely benign	16	17138403	17138403	Human	2	name , trait , alternate_id
15102190	CV785157	single nucleotide variant	NM_022166.4(XYLT1):c.2127G>C (p.Val709=)	Desbuquois dysplasia 1 [RCV001433727]	likely benign	16	17127762	17127762	Human	1	name
15116107	CV785158	single nucleotide variant	NM_022166.4(XYLT1):c.1686G>A (p.Lys562=)	Desbuquois dysplasia 1 [RCV000978534]	likely benign	16	17138433	17138433	Human	1	name
8635678	CV90901	single nucleotide variant	NM_022166.3(XYLT1):c.2079C>T (p.Asp693=)	Malignant melanoma [RCV000070999]	not provided	16	17127810	17127810	Human		name
126757787	CV996650	single nucleotide variant	NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg)	Desbuquois dysplasia 1 [RCV001308525]	uncertain significance	16	17470535	17470535	Human	1	name
126748348	CV1011895	single nucleotide variant	NM_022166.4(XYLT1):c.848C>G (p.Thr283Ser)	Desbuquois dysplasia 1 [RCV001315518]	uncertain significance	16	17259053	17259053	Human	1	name
126738732	CV1011896	single nucleotide variant	NM_022166.4(XYLT1):c.346C>G (p.Leu116Val)	Desbuquois dysplasia 1 [RCV001314149]	uncertain significance	16	17470451	17470451	Human	1	name
126765287	CV1011897	single nucleotide variant	NM_022166.4(XYLT1):c.337C>T (p.Arg113Trp)	Desbuquois dysplasia 1 [RCV001319986]	uncertain significance	16	17470460	17470460	Human	1	name
126756095	CV1032394	single nucleotide variant	NM_022166.4(XYLT1):c.436G>A (p.Val146Met)	Desbuquois dysplasia 1 [RCV001339191]	uncertain significance	16	17259465	17259465	Human	1	name
127312652	CV1157666	single nucleotide variant	NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly)	Desbuquois dysplasia 1 [RCV001519015]\|Desbuquois dysplasia 2 [RCV002243276]\|not provided [RCV001655773]	benign	16	17259233	17259233	Human	2	name
150428147	CV1188328	duplication	NM_022166.4(XYLT1):c.1086+255_1086+256dup	not provided [RCV001561878]	likely benign	16	17200217	17200218	Human		name
150470592	CV1269875	microsatellite	NM_022166.4(XYLT1):c.1764+125_1764+128del	not provided [RCV001695162]	benign	16	17138227	17138230	Human		name
150497854	CV1271411	duplication	NM_022166.4(XYLT1):c.1765-215_1765-212dup	not provided [RCV001689101]	benign	16	17134946	17134947	Human		name
150444905	CV1278062	duplication	NM_022166.4(XYLT1):c.1764+175_1764+191dup	not provided [RCV001707205]	benign	16	17138163	17138164	Human		name
8657826	CV132692	single nucleotide variant	NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter)	Desbuquois dysplasia 1 [RCV003495110]\|Desbuquois dysplasia 2 [RCV000115035]	pathogenic	16	17259462	17259462	Human	2	name
151794958	CV1338465	single nucleotide variant	NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu)	Desbuquois dysplasia 1 [RCV001898529]\|Inborn genetic diseases [RCV004681298]\|not provided [RCV004809693]	likely benign\|uncertain significance	16	17259476	17259476	Human	2	name
151871341	CV1340598	single nucleotide variant	NM_022166.4(XYLT1):c.389C>T (p.Thr130Ile)	Desbuquois dysplasia 1 [RCV001939844]	uncertain significance	16	17358025	17358025	Human	1	name
151800354	CV1344041	single nucleotide variant	NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu)	Desbuquois dysplasia 1 [RCV002028030]\|Inborn genetic diseases [RCV002549008]	uncertain significance	16	17200594	17200594	Human	2	name
151885564	CV1351065	single nucleotide variant	NM_022166.4(XYLT1):c.534G>T (p.Gln178His)	Desbuquois dysplasia 1 [RCV001887378]	uncertain significance	16	17259367	17259367	Human	1	name
151725231	CV1356517	single nucleotide variant	NM_022166.4(XYLT1):c.694G>C (p.Asp232His)	Desbuquois dysplasia 1 [RCV001910249]\|Inborn genetic diseases [RCV002557661]\|not provided [RCV005251298]	uncertain significance	16	17259207	17259207	Human	2	name
151845081	CV1363559	single nucleotide variant	NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser)	Desbuquois dysplasia 1 [RCV002032292]	uncertain significance	16	17259002	17259002	Human	1	name
151812462	CV1367497	single nucleotide variant	NM_022166.4(XYLT1):c.793A>G (p.Ile265Val)	Desbuquois dysplasia 1 [RCV001878408]	uncertain significance	16	17259108	17259108	Human	1	name
151782797	CV1369885	single nucleotide variant	NM_022166.4(XYLT1):c.358G>A (p.Ala120Thr)	Desbuquois dysplasia 1 [RCV001930598]	uncertain significance	16	17470439	17470439	Human	1	name
151817888	CV1385044	single nucleotide variant	NM_022166.4(XYLT1):c.923A>C (p.Asn308Thr)	Desbuquois dysplasia 1 [RCV001992481]	uncertain significance	16	17200645	17200645	Human	1	name
151875216	CV1397016	single nucleotide variant	NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu)	Desbuquois dysplasia 1 [RCV001940309]	uncertain significance	16	17259212	17259212	Human	1	name
151785518	CV1397149	single nucleotide variant	NM_022166.4(XYLT1):c.764C>T (p.Pro255Leu)	Desbuquois dysplasia 1 [RCV001930855]	uncertain significance	16	17259137	17259137	Human	1	name
151856272	CV1401856	single nucleotide variant	NM_022166.4(XYLT1):c.617A>G (p.His206Arg)	Desbuquois dysplasia 1 [RCV002017217]\|Inborn genetic diseases [RCV002657657]	uncertain significance	16	17259284	17259284	Human	2	name
151889466	CV1420161	single nucleotide variant	NM_022166.4(XYLT1):c.670G>A (p.Ala224Thr)	Desbuquois dysplasia 1 [RCV002001299]	uncertain significance	16	17259231	17259231	Human	1	name
151784759	CV1434731	single nucleotide variant	NM_022166.4(XYLT1):c.317G>C (p.Arg106Pro)	Desbuquois dysplasia 1 [RCV001897571]	uncertain significance	16	17470480	17470480	Human	1	name
151883878	CV1452497	single nucleotide variant	NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln)	Desbuquois dysplasia 1 [RCV002037434]	uncertain significance	16	17259461	17259461	Human	1	name
151823363	CV1456581	single nucleotide variant	NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala)	Desbuquois dysplasia 1 [RCV002030106]\|Inborn genetic diseases [RCV004038747]	uncertain significance	16	17259170	17259170	Human	2	name
151787539	CV1488715	single nucleotide variant	NM_022166.4(XYLT1):c.359C>T (p.Ala120Val)	Desbuquois dysplasia 1 [RCV002010352]	uncertain significance	16	17470438	17470438	Human	1	name
151787272	CV1513773	single nucleotide variant	NM_022166.4(XYLT1):c.317G>A (p.Arg106Gln)	Desbuquois dysplasia 1 [RCV001916458]	uncertain significance	16	17470480	17470480	Human	1	name
151888253	CV1516992	single nucleotide variant	NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser)	Desbuquois dysplasia 1 [RCV002038364]	uncertain significance	16	17259393	17259393	Human	1	name
8595805	CV17573	single nucleotide variant	NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)	Autosomal recessive inherited pseudoxanthoma elasticum [RCV005394107]\|Desbuquois dysplasia 1 [RCV000550422]\|Desbuquois dysplasia 2 [RCV002243615]\|PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF [RCV000002643]\|not provided [RCV001723535]	risk factor\|benign	16	17470454	17470454	Human	4	name
8595805	CV17573	single nucleotide variant	NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)	Autosomal recessive inherited pseudoxanthoma elasticum [RCV005394107]\|Desbuquois dysplasia 1 [RCV000550422]\|Desbuquois dysplasia 2 [RCV002243615]\|PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF [RCV000002643]\|not provided [RCV001723535]	risk factor\|benign	16	17470454	17470455	Human	4	name
156320555	CV1873034	single nucleotide variant	NM_022166.4(XYLT1):c.809G>A (p.Arg270His)	Desbuquois dysplasia 1 [RCV003063033]	uncertain significance	16	17259092	17259092	Human	1	name
156388256	CV1888284	single nucleotide variant	NM_022166.4(XYLT1):c.907C>G (p.Leu303Val)	Desbuquois dysplasia 1 [RCV003067746]\|Inborn genetic diseases [RCV004071673]	uncertain significance	16	17258994	17258994	Human	2	name
156309307	CV1928222	single nucleotide variant	NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)	Desbuquois dysplasia 1 [RCV002648061]\|Inborn genetic diseases [RCV004072118]	uncertain significance	16	17259384	17259384	Human	2	name
156073568	CV1959544	single nucleotide variant	NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn)	Desbuquois dysplasia 1 [RCV002569681]\|Inborn genetic diseases [RCV004965892]	uncertain significance	16	17259341	17259341	Human	2	name
156153511	CV1961246	single nucleotide variant	NM_022166.4(XYLT1):c.958T>C (p.Tyr320His)	Desbuquois dysplasia 1 [RCV002572976]	uncertain significance	16	17200610	17200610	Human	1	name
155998998	CV2074502	single nucleotide variant	NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala)	Desbuquois dysplasia 1 [RCV002843316]	uncertain significance	16	17259348	17259348	Human	1	name
155944679	CV2111400	single nucleotide variant	NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg)	Desbuquois dysplasia 1 [RCV002904694]\|Inborn genetic diseases [RCV004066296]	uncertain significance	16	17259335	17259335	Human	2	name
156145279	CV2118041	single nucleotide variant	NM_022166.4(XYLT1):c.863A>G (p.Lys288Arg)	Desbuquois dysplasia 1 [RCV002928709]	uncertain significance	16	17259038	17259038	Human	1	name
156028049	CV2125267	single nucleotide variant	NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile)	Desbuquois dysplasia 1 [RCV002949101]\|Inborn genetic diseases [RCV004068085]	uncertain significance	16	17259386	17259386	Human	2	name
156394781	CV2141407	single nucleotide variant	NM_022166.4(XYLT1):c.829C>T (p.Arg277Cys)	Desbuquois dysplasia 1 [RCV002944318]\|Inborn genetic diseases [RCV005301210]	uncertain significance	16	17259072	17259072	Human	2	name
155957524	CV2159238	single nucleotide variant	NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)	Desbuquois dysplasia 1 [RCV003015186]	uncertain significance	16	17259479	17259479	Human	1	name
155920209	CV2209944	single nucleotide variant	NM_022166.4(XYLT1):c.973C>A (p.Pro325Thr)	Inborn genetic diseases [RCV002682746]	uncertain significance	16	17200595	17200595	Human	1	name
156341523	CV2268272	single nucleotide variant	NM_022166.4(XYLT1):c.748A>G (p.Lys250Glu)	Inborn genetic diseases [RCV002836358]	uncertain significance	16	17259153	17259153	Human	1	name
156048932	CV2271760	single nucleotide variant	NM_022166.4(XYLT1):c.571G>A (p.Glu191Lys)	Inborn genetic diseases [RCV002822203]	uncertain significance	16	17259330	17259330	Human	1	name
156191185	CV2325572	single nucleotide variant	NM_022166.4(XYLT1):c.614G>A (p.Gly205Glu)	Inborn genetic diseases [RCV002930995]	uncertain significance	16	17259287	17259287	Human	1	name
243062107	CV2414313	single nucleotide variant	NM_022166.4(XYLT1):c.962T>G (p.Met321Arg)	Desbuquois dysplasia 2 [RCV003139382]	uncertain significance	16	17200606	17200606	Human	1	name
401721570	CV2683565	single nucleotide variant	NM_022166.4(XYLT1):c.737C>T (p.Ser246Phe)	Inborn genetic diseases [RCV003244479]	uncertain significance	16	17259164	17259164	Human	1	name
401761784	CV2699412	single nucleotide variant	NM_022166.4(XYLT1):c.754G>A (p.Asp252Asn)	Inborn genetic diseases [RCV003280974]	uncertain significance	16	17259147	17259147	Human	1	name
405220341	CV3157750	single nucleotide variant	NM_022166.4(XYLT1):c.952G>A (p.Val318Met)	Desbuquois dysplasia 1 [RCV003863442]	uncertain significance	16	17200616	17200616	Human	1	name
405667367	CV3359762	single nucleotide variant	NM_022166.4(XYLT1):c.799G>T (p.Ala267Ser)	Inborn genetic diseases [RCV004485760]	uncertain significance	16	17259102	17259102	Human	1	name
405667373	CV3359763	single nucleotide variant	NM_022166.4(XYLT1):c.802C>G (p.Leu268Val)	Inborn genetic diseases [RCV004485761]	uncertain significance	16	17259099	17259099	Human	1	name
407456257	CV3493736	single nucleotide variant	NM_022166.4(XYLT1):c.658G>A (p.Gly220Arg)	Inborn genetic diseases [RCV004685882]	uncertain significance	16	17259243	17259243	Human	1	name
407456258	CV3493737	single nucleotide variant	NM_022166.4(XYLT1):c.533A>T (p.Gln178Leu)	Inborn genetic diseases [RCV004685883]	uncertain significance	16	17259368	17259368	Human	1	name
407456598	CV3493742	single nucleotide variant	NM_022166.4(XYLT1):c.910G>A (p.Glu304Lys)	Inborn genetic diseases [RCV004685888]	uncertain significance	16	17258991	17258991	Human	1	name
596944514	CV3543165	duplication	NM_022166.4(XYLT1):c.2169dup (p.Val724fs)	Desbuquois dysplasia 2 [RCV004799037]	likely pathogenic	16	17127719	17127720	Human	1	name
12740798	CV360238	single nucleotide variant	NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp)	Desbuquois dysplasia 1 [RCV000888814]\|Inborn genetic diseases [RCV002523958]\|XYLT1-related disorder [RCV003932534]\|not specified [RCV000413146]	benign\|likely benign\|uncertain significance	16	17259480	17259480	Human	3	name , trait , alternate_id
597631518	CV3630595	single nucleotide variant	NM_022166.4(XYLT1):c.679A>G (p.Ser227Gly)	Inborn genetic diseases [RCV004967584]	uncertain significance	16	17259222	17259222	Human	1	name
597631332	CV3630598	single nucleotide variant	NM_022166.4(XYLT1):c.545C>T (p.Ala182Val)	Inborn genetic diseases [RCV004967587]	uncertain significance	16	17259356	17259356	Human	1	name
597766814	CV3708113	single nucleotide variant	NM_022166.4(XYLT1):c.380C>T (p.Pro127Leu)	Autosomal recessive inherited pseudoxanthoma elasticum [RCV005019778]	uncertain significance	16	17358034	17358034	Human	1	name
597944536	CV3793749	deletion	NM_022166.4(XYLT1):c.1629del (p.Asp543fs)	Desbuquois dysplasia 1 [RCV005134389]	pathogenic	16	17138490	17138490	Human	1	name
597838204	CV3828935	single nucleotide variant	NM_022166.4(XYLT1):c.846G>C (p.Glu282Asp)	Desbuquois dysplasia 1 [RCV005171628]	uncertain significance	16	17259055	17259055	Human	1	name
597869364	CV3835159	single nucleotide variant	NM_022166.4(XYLT1):c.557C>G (p.Pro186Arg)	Desbuquois dysplasia 1 [RCV005176335]	uncertain significance	16	17259344	17259344	Human	1	name
598241893	CV3933859	single nucleotide variant	NM_022166.4(XYLT1):c.557C>T (p.Pro186Leu)	Inborn genetic diseases [RCV005297010]	uncertain significance	16	17259344	17259344	Human	1	name
13522974	CV490477	single nucleotide variant	NM_022166.4(XYLT1):c.746C>A (p.Thr249Asn)	Desbuquois dysplasia 1 [RCV002531035]\|Inborn genetic diseases [RCV002531034]\|not provided [RCV000592426]	uncertain significance	16	17259155	17259155	Human	2	name
13819101	CV567707	single nucleotide variant	NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu)	Desbuquois dysplasia 1 [RCV000694129]	uncertain significance	16	17259071	17259071	Human	1	name
14393195	CV610576	single nucleotide variant	NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter)	Desbuquois dysplasia 2 [RCV000758143]	pathogenic	16	17470478	17470478	Human	1	name
15200618	CV703530	single nucleotide variant	NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg)	Desbuquois dysplasia 1 [RCV000957382]\|not provided [RCV001796331]	likely benign	16	17470490	17470490	Human	1	name
26917159	CV843207	single nucleotide variant	NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr)	Desbuquois dysplasia 1 [RCV001056816]	uncertain significance	16	17259090	17259090	Human	1	name
26895508	CV843208	single nucleotide variant	NM_022166.4(XYLT1):c.742G>A (p.Glu248Lys)	Desbuquois dysplasia 1 [RCV001069661]	uncertain significance	16	17259159	17259159	Human	1	name
26887151	CV843209	single nucleotide variant	NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu)	Desbuquois dysplasia 1 [RCV001066502]	uncertain significance	16	17259194	17259194	Human	1	name
26904554	CV843210	single nucleotide variant	NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr)	Desbuquois dysplasia 1 [RCV001050889]\|Inborn genetic diseases [RCV004963039]	uncertain significance	16	17259467	17259467	Human	2	name
26888972	CV843211	single nucleotide variant	NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe)	Desbuquois dysplasia 1 [RCV001067297]	uncertain significance	16	17259485	17259485	Human	1	name
26922374	CV843212	single nucleotide variant	NM_022166.4(XYLT1):c.353C>T (p.Ala118Val)	Desbuquois dysplasia 1 [RCV001061956]	uncertain significance	16	17470444	17470444	Human	1	name
126747018	CV996648	single nucleotide variant	NM_022166.4(XYLT1):c.927G>C (p.Lys309Asn)	Desbuquois dysplasia 1 [RCV001296667]	uncertain significance	16	17200641	17200641	Human	1	name
126740710	CV996649	single nucleotide variant	NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu)	Desbuquois dysplasia 1 [RCV001295802]	uncertain significance	16	17259489	17259489	Human	1	name
126764363	CV1011889	single nucleotide variant	NM_022166.4(XYLT1):c.2162C>A (p.Pro721Gln)	Desbuquois dysplasia 1 [RCV001319617]\|Inborn genetic diseases [RCV004686659]	uncertain significance	16	17127727	17127727	Human	2	name
126754321	CV1011890	single nucleotide variant	NM_022166.4(XYLT1):c.1970G>A (p.Arg657His)	Desbuquois dysplasia 1 [RCV001327483]	uncertain significance	16	17134530	17134530	Human	1	name
126764956	CV1011892	single nucleotide variant	NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser)	Desbuquois dysplasia 1 [RCV001319858]	uncertain significance	16	17138389	17138389	Human	1	name
126771100	CV1011893	single nucleotide variant	NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys)	Desbuquois dysplasia 1 [RCV001322964]\|not provided [RCV001529171]	uncertain significance	16	17141311	17141311	Human	1	name
126767098	CV1011894	single nucleotide variant	NM_022166.4(XYLT1):c.1237G>A (p.Asp413Asn)	Desbuquois dysplasia 1 [RCV001320713]\|Inborn genetic diseases [RCV004035016]	uncertain significance	16	17198264	17198264	Human	2	name
126770729	CV1032392	single nucleotide variant	NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile)	Desbuquois dysplasia 1 [RCV001344637]	uncertain significance	16	17117699	17117699	Human	1	name
126749862	CV1032393	single nucleotide variant	NM_022166.4(XYLT1):c.1939G>A (p.Val647Met)	Desbuquois dysplasia 1 [RCV001337927]	uncertain significance	16	17134561	17134561	Human	1	name
126914791	CV1049382	single nucleotide variant	NM_022166.4(XYLT1):c.2129G>A (p.Ser710Asn)	Desbuquois dysplasia 1 [RCV001370594]\|Inborn genetic diseases [RCV004968147]	uncertain significance	16	17127760	17127760	Human	2	name
126922785	CV1049383	single nucleotide variant	NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn)	Desbuquois dysplasia 1 [RCV001365078]	uncertain significance	16	17134564	17134564	Human	1	name
126924280	CV1049384	single nucleotide variant	NM_022166.4(XYLT1):c.1588T>G (p.Ser530Ala)	Desbuquois dysplasia 1 [RCV001366851]	uncertain significance	16	17138531	17138531	Human	1	name
126915880	CV1049385	single nucleotide variant	NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln)	Desbuquois dysplasia 1 [RCV001371178]	uncertain significance	16	17158841	17158841	Human	1	name
126919210	CV1049386	single nucleotide variant	NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val)	Desbuquois dysplasia 1 [RCV001373101]	uncertain significance	16	17158889	17158889	Human	1	name
126910818	CV1049387	single nucleotide variant	NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile)	Desbuquois dysplasia 1 [RCV001368935]	uncertain significance	16	17198249	17198249	Human	1	name
127280010	CV1103570	single nucleotide variant	NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala)	Desbuquois dysplasia 1 [RCV001446159]\|not provided [RCV004720914]	likely benign\|uncertain significance	16	17109014	17109014	Human	1	name
127241863	CV1103573	single nucleotide variant	NM_022166.4(XYLT1):c.2081G>A (p.Arg694His)	Desbuquois dysplasia 1 [RCV001434503]	likely benign	16	17127808	17127808	Human	1	name
127312644	CV1157652	single nucleotide variant	NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln)	Desbuquois dysplasia 1 [RCV001519012]\|Desbuquois dysplasia 2 [RCV002243274]\|not provided [RCV001615203]	benign	16	17108900	17108900	Human	2	name
127317333	CV1157654	single nucleotide variant	NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile)	Desbuquois dysplasia 1 [RCV001521050]\|Desbuquois dysplasia 2 [RCV002243278]\|not provided [RCV001685404]	benign	16	17117688	17117688	Human	2	name
127319089	CV1157656	single nucleotide variant	NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala)	Desbuquois dysplasia 1 [RCV001521948]\|XYLT1-related disorder [RCV003940960]\|not provided [RCV004716742]	benign	16	17117907	17117907	Human	2	name , trait , alternate_id
127320760	CV1157658	single nucleotide variant	NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met)	Desbuquois dysplasia 1 [RCV001522788]\|Desbuquois dysplasia 2 [RCV002243288]\|not provided [RCV001813826]	benign	16	17134506	17134506	Human	2	name
150455626	CV1214328	single nucleotide variant	NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys)	Desbuquois dysplasia 2 [RCV003225190]\|not provided [RCV001596898]	pathogenic	16	17138468	17138468	Human	1	name
150547511	CV1292053	single nucleotide variant	NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met)	Autosomal recessive inherited pseudoxanthoma elasticum [RCV001733719]\|Desbuquois dysplasia 1 [RCV002543921]\|not provided [RCV003416413]	uncertain significance	16	17108768	17108768	Human	2	name
150546212	CV1296165	single nucleotide variant	NM_022166.4(XYLT1):c.2410G>A (p.Glu804Lys)	not provided [RCV001763455]	uncertain significance	16	17117793	17117793	Human		name
150555205	CV1297633	single nucleotide variant	NM_022166.4(XYLT1):c.1633A>G (p.Met545Val)	Desbuquois dysplasia 1 [RCV002034470]\|Inborn genetic diseases [RCV004040164]\|not provided [RCV001772540]	uncertain significance	16	17138486	17138486	Human	2	name
150541267	CV1298732	single nucleotide variant	NM_022166.4(XYLT1):c.2352G>T (p.Trp784Cys)	not provided [RCV001760880]	uncertain significance	16	17117851	17117851	Human		name
150553645	CV1303661	single nucleotide variant	NM_022166.4(XYLT1):c.2269G>C (p.Gly757Arg)	not provided [RCV001769351]	uncertain significance	16	17117934	17117934	Human		name
8657824	CV132690	single nucleotide variant	NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp)	Desbuquois dysplasia 2 [RCV000115033]	pathogenic	16	17141299	17141299	Human	1	name
8657825	CV132691	single nucleotide variant	NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)	Desbuquois dysplasia 1 [RCV001227279]\|Desbuquois dysplasia 2 [RCV000115034]	pathogenic\|uncertain significance	16	17134708	17134708	Human	2	name
151784639	CV1344719	single nucleotide variant	NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys)	Desbuquois dysplasia 1 [RCV001989448]	uncertain significance	16	17117943	17117943	Human	1	name
151880815	CV1360112	single nucleotide variant	NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr)	Desbuquois dysplasia 1 [RCV002036849]	uncertain significance	16	17141206	17141206	Human	1	name
151771299	CV1360674	single nucleotide variant	NM_022166.4(XYLT1):c.1807G>A (p.Val603Met)	Desbuquois dysplasia 1 [RCV001864100]\|not provided [RCV004770236]	uncertain significance	16	17134693	17134693	Human	1	name
151851722	CV1362253	single nucleotide variant	NM_022166.4(XYLT1):c.1006G>A (p.Gly336Ser)	Desbuquois dysplasia 1 [RCV001979030]\|Inborn genetic diseases [RCV004043137]	uncertain significance	16	17200562	17200562	Human	2	name
151740941	CV1367062	single nucleotide variant	NM_022166.4(XYLT1):c.2619G>C (p.Gln873His)	Desbuquois dysplasia 1 [RCV002022318]	uncertain significance	16	17108956	17108956	Human	1	name
151836192	CV1367113	single nucleotide variant	NM_022166.4(XYLT1):c.1259T>C (p.Ile420Thr)	Desbuquois dysplasia 1 [RCV001994216]	uncertain significance	16	17198242	17198242	Human	1	name
151836272	CV1367136	single nucleotide variant	NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys)	Desbuquois dysplasia 1 [RCV001994223]\|Inborn genetic diseases [RCV004681376]	uncertain significance	16	17117786	17117786	Human	2	name
151877832	CV1368936	single nucleotide variant	NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg)	Desbuquois dysplasia 1 [RCV001999156]\|Inborn genetic diseases [RCV004045463]	uncertain significance	16	17117648	17117648	Human	2	name
151832544	CV1370360	single nucleotide variant	NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln)	Desbuquois dysplasia 1 [RCV001993854]	uncertain significance	16	17108910	17108910	Human	1	name
151812014	CV1371496	single nucleotide variant	NM_022166.4(XYLT1):c.1627G>A (p.Asp543Asn)	Desbuquois dysplasia 1 [RCV001933298]\|not provided [RCV005251300]	uncertain significance	16	17138492	17138492	Human	1	name
151855633	CV1372921	single nucleotide variant	NM_022166.4(XYLT1):c.1088G>A (p.Arg363His)	Desbuquois dysplasia 1 [RCV001996502]\|Inborn genetic diseases [RCV004970744]	uncertain significance	16	17198413	17198413	Human	2	name
151791478	CV1375609	single nucleotide variant	NM_022166.4(XYLT1):c.2338G>A (p.Val780Met)	Desbuquois dysplasia 1 [RCV001973096]	uncertain significance	16	17117865	17117865	Human	1	name
151843304	CV1379866	single nucleotide variant	NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr)	Desbuquois dysplasia 1 [RCV001936380]\|Inborn genetic diseases [RCV002560602]	uncertain significance	16	17134674	17134674	Human	2	name
151814986	CV1382443	single nucleotide variant	NM_022166.4(XYLT1):c.2088G>T (p.Gln696His)	Desbuquois dysplasia 1 [RCV001992194]\|not provided [RCV004694111]	uncertain significance	16	17127801	17127801	Human	1	name
151711269	CV1395000	single nucleotide variant	NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys)	Desbuquois dysplasia 1 [RCV001964346]\|Inborn genetic diseases [RCV003264350]	uncertain significance	16	17138450	17138450	Human	2	name
151884495	CV1412393	single nucleotide variant	NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu)	Desbuquois dysplasia 1 [RCV001887163]	uncertain significance	16	17108792	17108792	Human	1	name
151886188	CV1414727	single nucleotide variant	NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met)	Desbuquois dysplasia 1 [RCV001887510]	uncertain significance	16	17108882	17108882	Human	1	name
151840720	CV1415429	single nucleotide variant	NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg)	Desbuquois dysplasia 1 [RCV001921502]	uncertain significance	16	17108906	17108906	Human	1	name
151885691	CV1418122	single nucleotide variant	NM_022166.4(XYLT1):c.2465C>G (p.Thr822Arg)	Desbuquois dysplasia 1 [RCV001887407]	uncertain significance	16	17117738	17117738	Human	1	name
151764531	CV1418591	single nucleotide variant	NM_022166.4(XYLT1):c.1129C>G (p.Gln377Glu)	Desbuquois dysplasia 1 [RCV001928905]\|Inborn genetic diseases [RCV004970543]\|not provided [RCV004693973]	uncertain significance	16	17198372	17198372	Human	2	name
151858899	CV1422789	single nucleotide variant	NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln)	Desbuquois dysplasia 1 [RCV001923750]	uncertain significance	16	17108705	17108705	Human	1	name
151726090	CV1433418	single nucleotide variant	NM_022166.4(XYLT1):c.1520C>A (p.Thr507Asn)	Desbuquois dysplasia 1 [RCV001983696]	uncertain significance	16	17141220	17141220	Human	1	name
151848202	CV1433486	single nucleotide variant	NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe)	Desbuquois dysplasia 1 [RCV001978575]	uncertain significance	16	17108885	17108885	Human	1	name
151888091	CV1434052	single nucleotide variant	NM_022166.4(XYLT1):c.2467G>A (p.Val823Met)	Desbuquois dysplasia 1 [RCV002038326]	uncertain significance	16	17117736	17117736	Human	1	name
151725649	CV1437903	single nucleotide variant	NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg)	Desbuquois dysplasia 1 [RCV001891681]	uncertain significance	16	17138356	17138356	Human	1	name
151833248	CV1447988	single nucleotide variant	NM_022166.4(XYLT1):c.2378C>T (p.Ala793Val)	Desbuquois dysplasia 1 [RCV001920695]\|Inborn genetic diseases [RCV003247147]	uncertain significance	16	17117825	17117825	Human	2	name
151853024	CV1456824	single nucleotide variant	NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met)	Desbuquois dysplasia 1 [RCV001882991]\|Inborn genetic diseases [RCV004040607]	uncertain significance	16	17134570	17134570	Human	2	name
151804926	CV1457021	single nucleotide variant	NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln)	Desbuquois dysplasia 1 [RCV001877712]\|Inborn genetic diseases [RCV004040614]\|not provided [RCV004770247]	uncertain significance	16	17134515	17134515	Human	2	name
151828550	CV1465402	single nucleotide variant	NM_022166.4(XYLT1):c.1547A>G (p.Lys516Arg)	Desbuquois dysplasia 1 [RCV002014080]	uncertain significance	16	17141193	17141193	Human	1	name
151824479	CV1466432	single nucleotide variant	NM_022166.4(XYLT1):c.2069T>C (p.Phe690Ser)	Desbuquois dysplasia 1 [RCV001879528]	uncertain significance	16	17127820	17127820	Human	1	name
151873269	CV1467280	single nucleotide variant	NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln)	Desbuquois dysplasia 1 [RCV001925485]\|not provided [RCV002261414]	uncertain significance	16	17117646	17117646	Human	1	name
151855149	CV1478622	single nucleotide variant	NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn)	Desbuquois dysplasia 1 [RCV002017082]\|not provided [RCV004779251]	uncertain significance	16	17198225	17198225	Human	1	name
151816356	CV1482487	single nucleotide variant	NM_022166.4(XYLT1):c.2502G>C (p.Glu834Asp)	Desbuquois dysplasia 1 [RCV002049350]	uncertain significance	16	17117701	17117701	Human	1	name
151717895	CV1483540	single nucleotide variant	NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys)	Desbuquois dysplasia 1 [RCV001909239]	uncertain significance	16	17109015	17109015	Human	1	name
151804406	CV1485526	single nucleotide variant	NM_022166.4(XYLT1):c.1445G>A (p.Arg482Gln)	Desbuquois dysplasia 1 [RCV002048273]\|Inborn genetic diseases [RCV004046811]	uncertain significance	16	17141295	17141295	Human	2	name
151766974	CV1492837	single nucleotide variant	NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser)	Desbuquois dysplasia 1 [RCV001914604]	uncertain significance	16	17141266	17141266	Human	1	name
151742083	CV1504369	single nucleotide variant	NM_022166.4(XYLT1):c.1229A>T (p.Glu410Val)	Desbuquois dysplasia 1 [RCV002022417]\|Inborn genetic diseases [RCV002642162]	uncertain significance	16	17198272	17198272	Human	2	name
151885535	CV1507076	single nucleotide variant	NM_022166.4(XYLT1):c.2117A>G (p.Asn706Ser)	Desbuquois dysplasia 1 [RCV001962566]	uncertain significance	16	17127772	17127772	Human	1	name
151731651	CV1512349	single nucleotide variant	NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile)	Desbuquois dysplasia 1 [RCV002041258]	uncertain significance	16	17127680	17127680	Human	1	name
151888666	CV1512945	single nucleotide variant	NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser)	Desbuquois dysplasia 1 [RCV001888014]\|Inborn genetic diseases [RCV003164068]	uncertain significance	16	17138402	17138402	Human	2	name
152095238	CV1533977	single nucleotide variant	NM_022166.4(XYLT1):c.2442G>T (p.Leu814Phe)	Desbuquois dysplasia 1 [RCV002151117]	likely benign	16	17117761	17117761	Human	1	name
152165766	CV1611439	single nucleotide variant	NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys)	Desbuquois dysplasia 1 [RCV002141783]	likely benign	16	17134659	17134659	Human	1	name
155720897	CV1781276	single nucleotide variant	NM_022166.4(XYLT1):c.1334T>C (p.Met445Thr)	Inborn genetic diseases [RCV004047727]\|not provided [RCV002306352]	uncertain significance	16	17158865	17158865	Human	1	name
156262084	CV1869109	single nucleotide variant	NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)	Desbuquois dysplasia 1 [RCV003060398]	uncertain significance	16	17138467	17138467	Human	1	name
156342677	CV1871404	single nucleotide variant	NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter)	Desbuquois dysplasia 1 [RCV003064329]	pathogenic	16	17134474	17134474	Human	1	name
156407836	CV1873039	single nucleotide variant	NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met)	Desbuquois dysplasia 1 [RCV003071034]	uncertain significance	16	17138518	17138518	Human	1	name
155958047	CV1873486	single nucleotide variant	NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu)	Desbuquois dysplasia 1 [RCV003074531]	uncertain significance	16	17141262	17141262	Human	1	name
156388805	CV1875854	single nucleotide variant	NM_022166.4(XYLT1):c.2105A>T (p.His702Leu)	Desbuquois dysplasia 1 [RCV003051097]	uncertain significance	16	17127784	17127784	Human	1	name
156219832	CV1879177	single nucleotide variant	NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln)	Desbuquois dysplasia 1 [RCV003058885]\|Inborn genetic diseases [RCV003058886]	uncertain significance	16	17134473	17134473	Human	2	name
156416801	CV1898180	single nucleotide variant	NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)	Desbuquois dysplasia 1 [RCV002610367]	uncertain significance	16	17108901	17108901	Human	1	name
156370397	CV1920145	single nucleotide variant	NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser)	Desbuquois dysplasia 1 [RCV002603126]	uncertain significance	16	17117658	17117658	Human	1	name
156031674	CV1923316	single nucleotide variant	NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)	Desbuquois dysplasia 1 [RCV002637190]	uncertain significance	16	17108943	17108943	Human	1	name
156446387	CV1937855	single nucleotide variant	NM_022166.4(XYLT1):c.2050G>A (p.Ala684Thr)	Desbuquois dysplasia 1 [RCV003117890]	uncertain significance	16	17127839	17127839	Human	1	name
156440379	CV1943433	single nucleotide variant	NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)	Desbuquois dysplasia 1 [RCV003110411]	uncertain significance	16	17109009	17109009	Human	1	name
156176765	CV1953166	single nucleotide variant	NM_022166.4(XYLT1):c.1100T>A (p.Leu367Gln)	Desbuquois dysplasia 1 [RCV002573987]	uncertain significance	16	17198401	17198401	Human	1	name
156170658	CV1968294	single nucleotide variant	NM_022166.4(XYLT1):c.1322G>A (p.Arg441Gln)	Desbuquois dysplasia 1 [RCV002594760]	uncertain significance	16	17158877	17158877	Human	1	name
156310392	CV1973236	single nucleotide variant	NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp)	Desbuquois dysplasia 1 [RCV002578658]	uncertain significance	16	17134548	17134548	Human	1	name
156255650	CV1977328	single nucleotide variant	NM_022166.4(XYLT1):c.2169A>T (p.Lys723Asn)	Desbuquois dysplasia 1 [RCV002597615]	uncertain significance	16	17127720	17127720	Human	1	name
156393838	CV1984267	single nucleotide variant	NM_022166.4(XYLT1):c.2038A>G (p.Met680Val)	Desbuquois dysplasia 1 [RCV002635259]	uncertain significance	16	17127851	17127851	Human	1	name
156093029	CV2012631	single nucleotide variant	NM_022166.4(XYLT1):c.2080C>T (p.Arg694Cys)	Desbuquois dysplasia 1 [RCV002706383]	uncertain significance	16	17127809	17127809	Human	1	name
156200217	CV2034688	single nucleotide variant	NM_022166.4(XYLT1):c.1793G>A (p.Arg598His)	Desbuquois dysplasia 1 [RCV002766207]	uncertain significance	16	17134707	17134707	Human	1	name
156206350	CV2040161	single nucleotide variant	NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)	Desbuquois dysplasia 1 [RCV002790070]	uncertain significance	16	17138498	17138498	Human	1	name
156162058	CV2044915	single nucleotide variant	NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter)	Desbuquois dysplasia 1 [RCV002741580]	pathogenic	16	17117741	17117741	Human	1	name
156285790	CV2050168	single nucleotide variant	NM_022166.4(XYLT1):c.1028A>G (p.Gln343Arg)	Desbuquois dysplasia 1 [RCV002807149]	uncertain significance	16	17200540	17200540	Human	1	name
156051065	CV2060052	single nucleotide variant	NM_022166.4(XYLT1):c.2519C>A (p.Ala840Glu)	Desbuquois dysplasia 1 [RCV002796770]	uncertain significance	16	17117684	17117684	Human	1	name
155925615	CV2099550	single nucleotide variant	NM_022166.4(XYLT1):c.1145G>A (p.Arg382His)	Desbuquois dysplasia 1 [RCV002903556]	uncertain significance	16	17198356	17198356	Human	1	name
156343019	CV2099701	single nucleotide variant	NM_022166.4(XYLT1):c.1033A>C (p.Met345Leu)	Desbuquois dysplasia 1 [RCV002900586]	uncertain significance	16	17200535	17200535	Human	1	name
156010816	CV2100054	single nucleotide variant	NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr)	Desbuquois dysplasia 1 [RCV002909097]	uncertain significance	16	17108936	17108936	Human	1	name
155918980	CV2102270	single nucleotide variant	NM_022166.4(XYLT1):c.1883G>A (p.Arg628His)	Desbuquois dysplasia 1 [RCV002903251]	uncertain significance	16	17134617	17134617	Human	1	name
156305253	CV2105214	single nucleotide variant	NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)	Desbuquois dysplasia 1 [RCV002922787]\|Desbuquois dysplasia 2 [RCV003138395]\|Inborn genetic diseases [RCV004067013]	likely benign\|uncertain significance	16	17108807	17108807	Human	3	name
156251464	CV2116969	single nucleotide variant	NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp)	Desbuquois dysplasia 1 [RCV002933564]	uncertain significance	16	17108706	17108706	Human	1	name
156393246	CV2120374	single nucleotide variant	NM_022166.4(XYLT1):c.2272G>C (p.Gly758Arg)	Desbuquois dysplasia 1 [RCV002944134]	uncertain significance	16	17117931	17117931	Human	1	name
156376489	CV2124177	single nucleotide variant	NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg)	Desbuquois dysplasia 1 [RCV002942763]\|Inborn genetic diseases [RCV004067266]	uncertain significance	16	17134648	17134648	Human	2	name
156012477	CV2124696	single nucleotide variant	NM_022166.4(XYLT1):c.1271C>T (p.Ala424Val)	Desbuquois dysplasia 1 [RCV002948348]	uncertain significance	16	17198230	17198230	Human	1	name
156275261	CV2133029	single nucleotide variant	NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)	Desbuquois dysplasia 1 [RCV003009405]	uncertain significance	16	17108748	17108748	Human	1	name
155936090	CV2138881	single nucleotide variant	NM_022166.4(XYLT1):c.2425A>G (p.Lys809Glu)	Desbuquois dysplasia 1 [RCV002993734]\|Inborn genetic diseases [RCV004681589]	uncertain significance	16	17117778	17117778	Human	2	name
156394715	CV2141377	single nucleotide variant	NM_022166.4(XYLT1):c.2192C>G (p.Pro731Arg)	Desbuquois dysplasia 1 [RCV002944309]	uncertain significance	16	17127697	17127697	Human	1	name
155989507	CV2160039	single nucleotide variant	NM_022166.4(XYLT1):c.2071C>G (p.Leu691Val)	Desbuquois dysplasia 1 [RCV003034263]	uncertain significance	16	17127818	17127818	Human	1	name
156313614	CV2160633	single nucleotide variant	NM_022166.4(XYLT1):c.2159T>C (p.Met720Thr)	Desbuquois dysplasia 1 [RCV003046174]	uncertain significance	16	17127730	17127730	Human	1	name
156195189	CV2171483	single nucleotide variant	NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr)	Desbuquois dysplasia 1 [RCV003024262]	uncertain significance	16	17117654	17117654	Human	1	name
156345884	CV2172600	single nucleotide variant	NM_022166.4(XYLT1):c.2047C>A (p.Pro683Thr)	Desbuquois dysplasia 1 [RCV003030556]	uncertain significance	16	17127842	17127842	Human	1	name
156369055	CV2190576	single nucleotide variant	NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)	Desbuquois dysplasia 1 [RCV003066152]	uncertain significance	16	17108697	17108697	Human	1	name
156374955	CV2194948	single nucleotide variant	NM_022166.4(XYLT1):c.1302G>T (p.Gln434His)	Inborn genetic diseases [RCV002677515]	uncertain significance	16	17158897	17158897	Human	1	name
156370988	CV2204398	single nucleotide variant	NM_022166.4(XYLT1):c.1969C>T (p.Arg657Cys)	Inborn genetic diseases [RCV002652837]	uncertain significance	16	17134531	17134531	Human	1	name
156209717	CV2250242	single nucleotide variant	NM_022166.4(XYLT1):c.1987G>A (p.Ala663Thr)	Inborn genetic diseases [RCV002804001]	uncertain significance	16	17134513	17134513	Human	1	name
155971821	CV2271452	single nucleotide variant	NM_022166.4(XYLT1):c.1045A>G (p.Ile349Val)	Inborn genetic diseases [RCV002817774]	uncertain significance	16	17200523	17200523	Human	1	name
155920041	CV2279529	single nucleotide variant	NM_022166.4(XYLT1):c.2353G>C (p.Val785Leu)	Inborn genetic diseases [RCV002859541]	uncertain significance	16	17117850	17117850	Human	1	name
156078774	CV2289501	single nucleotide variant	NM_022166.4(XYLT1):c.2837A>C (p.Lys946Thr)	Inborn genetic diseases [RCV002869132]	uncertain significance	16	17108738	17108738	Human	1	name
156099887	CV2392900	single nucleotide variant	NM_022166.4(XYLT1):c.1992G>C (p.Glu664Asp)	Inborn genetic diseases [RCV002784847]	uncertain significance	16	17134508	17134508	Human	1	name
329387945	CV2440264	single nucleotide variant	NM_022166.4(XYLT1):c.2765C>T (p.Thr922Met)	Inborn genetic diseases [RCV003190366]	uncertain significance	16	17108810	17108810	Human	1	name
329848098	CV2667717	single nucleotide variant	NM_022166.4(XYLT1):c.2413T>A (p.Phe805Ile)	not provided [RCV003229284]	uncertain significance	16	17117790	17117790	Human		name
329848124	CV2667743	single nucleotide variant	NM_022166.4(XYLT1):c.2639G>A (p.Ser880Asn)	not provided [RCV003229310]	uncertain significance	16	17108936	17108936	Human		name
401760976	CV2695232	single nucleotide variant	NM_022166.4(XYLT1):c.1984C>T (p.Arg662Trp)	Inborn genetic diseases [RCV003280704]	uncertain significance	16	17134516	17134516	Human	1	name
401762192	CV2714048	single nucleotide variant	NM_022166.4(XYLT1):c.2275C>T (p.Leu759Phe)	Inborn genetic diseases [RCV003257809]	uncertain significance	16	17117928	17117928	Human	1	name
401856438	CV2752514	single nucleotide variant	NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys)	Desbuquois dysplasia 2 [RCV003340852]	uncertain significance	16	17117936	17117936	Human	1	name
401960993	CV2844373	single nucleotide variant	NM_022166.4(XYLT1):c.1906G>A (p.Asp636Asn)	not provided [RCV003480168]	uncertain significance	16	17134594	17134594	Human		name
405102789	CV2888865	single nucleotide variant	NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)	Desbuquois dysplasia 1 [RCV003497102]\|Inborn genetic diseases [RCV004963713]	uncertain significance	16	17108836	17108836	Human	2	name
404995712	CV2958173	single nucleotide variant	NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)	Desbuquois dysplasia 1 [RCV003598386]	pathogenic	16	17141230	17141230	Human	1	name
405003220	CV2987818	single nucleotide variant	NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)	Desbuquois dysplasia 1 [RCV003599147]	uncertain significance	16	17134515	17134515	Human	1	name
404997380	CV3057841	single nucleotide variant	NM_022166.4(XYLT1):c.2098A>G (p.Ile700Val)	Desbuquois dysplasia 1 [RCV003598546]	uncertain significance	16	17127791	17127791	Human	1	name
407456261	CV3493738	single nucleotide variant	NM_022166.4(XYLT1):c.2162C>T (p.Pro721Leu)	Desbuquois dysplasia 1 [RCV005103518]\|Inborn genetic diseases [RCV004685884]	uncertain significance	16	17127727	17127727	Human	2	name
407456601	CV3493741	single nucleotide variant	NM_022166.4(XYLT1):c.1010G>A (p.Arg337His)	Inborn genetic diseases [RCV004685887]	uncertain significance	16	17200558	17200558	Human	1	name
407573131	CV3498932	single nucleotide variant	NM_022166.4(XYLT1):c.1108C>T (p.Gln370Ter)	Desbuquois dysplasia 2 [RCV004699901]	pathogenic	16	17198393	17198393	Human	1	name
408387982	CV3520578	single nucleotide variant	NM_022166.4(XYLT1):c.2714G>A (p.Trp905Ter)	not provided [RCV004761410]	uncertain significance	16	17108861	17108861	Human		name
12741152	CV360160	single nucleotide variant	NM_022166.3(XYLT1):c.2116A>G (p.Asn706Asp)	not specified [RCV000414237]	uncertain significance	16	17127773	17127773	Human		name
597631522	CV3630592	single nucleotide variant	NM_022166.4(XYLT1):c.2656G>A (p.Ala886Thr)	Inborn genetic diseases [RCV004967582]	uncertain significance	16	17108919	17108919	Human	1	name
597631443	CV3630596	single nucleotide variant	NM_022166.4(XYLT1):c.2389A>T (p.Ile797Phe)	Inborn genetic diseases [RCV004967585]	uncertain significance	16	17117814	17117814	Human	1	name
597631387	CV3630597	single nucleotide variant	NM_022166.4(XYLT1):c.2066A>G (p.Tyr689Cys)	Inborn genetic diseases [RCV004967586]	uncertain significance	16	17127823	17127823	Human	1	name
597631275	CV3630599	single nucleotide variant	NM_022166.4(XYLT1):c.1540G>A (p.Val514Met)	Inborn genetic diseases [RCV004967588]	uncertain significance	16	17141200	17141200	Human	1	name
597631225	CV3630600	single nucleotide variant	NM_022166.4(XYLT1):c.1532A>G (p.Asp511Gly)	Inborn genetic diseases [RCV004967589]	uncertain significance	16	17141208	17141208	Human	1	name
597631196	CV3630602	single nucleotide variant	NM_022166.4(XYLT1):c.1056A>C (p.Lys352Asn)	Inborn genetic diseases [RCV004967590]	uncertain significance	16	17200512	17200512	Human	1	name
597631198	CV3630603	single nucleotide variant	NM_022166.4(XYLT1):c.1621C>A (p.His541Asn)	Inborn genetic diseases [RCV004967591]	uncertain significance	16	17138498	17138498	Human	1	name
597631200	CV3630604	single nucleotide variant	NM_022166.4(XYLT1):c.2209C>T (p.Leu737Phe)	Inborn genetic diseases [RCV004967592]	uncertain significance	16	17127680	17127680	Human	1	name
597631203	CV3630605	single nucleotide variant	NM_022166.4(XYLT1):c.1363A>G (p.Asn455Asp)	Inborn genetic diseases [RCV004967593]	uncertain significance	16	17158836	17158836	Human	1	name
597631205	CV3630606	single nucleotide variant	NM_022166.4(XYLT1):c.2702C>T (p.Ala901Val)	Inborn genetic diseases [RCV004967594]	likely benign	16	17108873	17108873	Human	1	name
597894498	CV3744088	single nucleotide variant	NM_022166.4(XYLT1):c.2519C>T (p.Ala840Val)	Desbuquois dysplasia 1 [RCV005071558]	uncertain significance	16	17117684	17117684	Human	1	name
597968166	CV3752202	single nucleotide variant	NM_022166.4(XYLT1):c.1900G>C (p.Val634Leu)	Desbuquois dysplasia 1 [RCV005083396]	uncertain significance	16	17134600	17134600	Human	1	name
597965469	CV3823515	single nucleotide variant	NM_022166.4(XYLT1):c.1562A>G (p.Tyr521Cys)	Desbuquois dysplasia 1 [RCV005164935]	uncertain significance	16	17141178	17141178	Human	1	name
597971985	CV3833279	single nucleotide variant	NM_022166.4(XYLT1):c.1874C>G (p.Pro625Arg)	Desbuquois dysplasia 1 [RCV005167176]	uncertain significance	16	17134626	17134626	Human	1	name
597950670	CV3846991	single nucleotide variant	NM_022166.4(XYLT1):c.2734G>A (p.Gly912Arg)	Desbuquois dysplasia 1 [RCV005190162]	uncertain significance	16	17108841	17108841	Human	1	name
598241897	CV3933860	single nucleotide variant	NM_022166.4(XYLT1):c.2421C>A (p.His807Gln)	Inborn genetic diseases [RCV005297011]	uncertain significance	16	17117782	17117782	Human	1	name
598241901	CV3933862	single nucleotide variant	NM_022166.4(XYLT1):c.1354G>A (p.Gly452Ser)	Inborn genetic diseases [RCV005297012]	uncertain significance	16	17158845	17158845	Human	1	name
598195772	CV3933863	single nucleotide variant	NM_022166.4(XYLT1):c.1727C>T (p.Pro576Leu)	Inborn genetic diseases [RCV005313392]	uncertain significance	16	17138392	17138392	Human	1	name
13531309	CV512178	single nucleotide variant	NM_022166.4(XYLT1):c.2560G>T (p.Glu854Ter)	Inborn genetic diseases [RCV000623221]	likely pathogenic	16	17109015	17109015	Human	1	name
13624336	CV529502	single nucleotide variant	NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln)	Desbuquois dysplasia 1 [RCV000652126]	uncertain significance	16	17198284	17198284	Human	1	name
13820402	CV569572	single nucleotide variant	NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys)	Autosomal recessive inherited pseudoxanthoma elasticum [RCV000765257]\|Desbuquois dysplasia 1 [RCV000694844]	uncertain significance	16	17138363	17138363	Human	2	name
14738066	CV643961	single nucleotide variant	NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys)	Desbuquois dysplasia 1 [RCV000820763]\|not provided [RCV004693389]	uncertain significance	16	17134510	17134510	Human	1	name
14706432	CV643962	single nucleotide variant	NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln)	Desbuquois dysplasia 1 [RCV000808439]	uncertain significance	16	17134518	17134518	Human	1	name
14741688	CV643963	single nucleotide variant	NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr)	Desbuquois dysplasia 1 [RCV000805928]\|Inborn genetic diseases [RCV003307484]	uncertain significance	16	17134687	17134687	Human	2	name
15185589	CV703529	single nucleotide variant	NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)	Desbuquois dysplasia 1 [RCV000953027]\|XYLT1-related disorder [RCV003925966]\|not provided [RCV001729754]\|not specified [RCV001729755]	benign\|likely benign	16	17198347	17198347	Human	2	name , trait , alternate_id
15108532	CV714761	single nucleotide variant	NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser)	Desbuquois dysplasia 1 [RCV000960508]\|not provided [RCV004715360]	benign	16	17108919	17108919	Human	1	name
15142137	CV714762	single nucleotide variant	NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser)	Desbuquois dysplasia 1 [RCV000966430]	benign	16	17134582	17134582	Human	1	name
15148973	CV714766	single nucleotide variant	NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu)	Desbuquois dysplasia 1 [RCV000967660]\|Inborn genetic diseases [RCV004962972]\|XYLT1-related disorder [RCV004757350]	likely benign	16	17158900	17158900	Human	3	name , trait , alternate_id
15189070	CV726465	single nucleotide variant	NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu)	Desbuquois dysplasia 1 [RCV000887717]\|not provided [RCV004705876]	likely benign	16	17138377	17138377	Human	1	name
21075365	CV797265	single nucleotide variant	NM_022166.4(XYLT1):c.2006C>T (p.Thr669Met)	not provided [RCV000996235]	uncertain significance	16	17134494	17134494	Human		name
21075366	CV797266	single nucleotide variant	NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp)	Desbuquois dysplasia 1 [RCV001065965]\|Desbuquois dysplasia 2 [RCV001334143]\|not provided [RCV000996236]	uncertain significance	16	17198285	17198285	Human	2	name
8635679	CV90902	single nucleotide variant	NM_022166.3(XYLT1):c.1924C>T (p.His642Tyr)	Malignant melanoma [RCV000071000]	not provided	16	17134576	17134576	Human		name
8635680	CV90903	single nucleotide variant	NM_022166.3(XYLT1):c.1009C>T (p.Arg337Cys)	Malignant melanoma [RCV000071001]	not provided	16	17200559	17200559	Human		name
38480160	CV937252	single nucleotide variant	NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly)	Desbuquois dysplasia 1 [RCV001206277]	uncertain significance	16	17138504	17138504	Human	1	name
38475250	CV937253	single nucleotide variant	NM_022166.4(XYLT1):c.1211G>A (p.Ser404Asn)	Desbuquois dysplasia 1 [RCV001204198]\|Inborn genetic diseases [RCV004033605]	uncertain significance	16	17198290	17198290	Human	2	name
38475139	CV949210	single nucleotide variant	NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn)	Desbuquois dysplasia 1 [RCV001232492]	uncertain significance	16	17138372	17138372	Human	1	name
38472583	CV949211	single nucleotide variant	NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter)	Desbuquois dysplasia 1 [RCV001231569]	pathogenic	16	17158878	17158878	Human	1	name
126745950	CV996643	single nucleotide variant	NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr)	Desbuquois dysplasia 1 [RCV001306041]\|Inborn genetic diseases [RCV002543151]	uncertain significance	16	17108766	17108766	Human	2	name
126742205	CV996644	single nucleotide variant	NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser)	Desbuquois dysplasia 1 [RCV001305527]	uncertain significance	16	17108769	17108769	Human	1	name
126739430	CV996645	single nucleotide variant	NM_022166.4(XYLT1):c.2344G>A (p.Val782Ile)	Desbuquois dysplasia 1 [RCV001295610]	uncertain significance	16	17117859	17117859	Human	1	name
126760154	CV996646	single nucleotide variant	NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr)	Desbuquois dysplasia 1 [RCV001299710]	uncertain significance	16	17117897	17117897	Human	1	name
126735687	CV996647	single nucleotide variant	NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu)	Desbuquois dysplasia 1 [RCV001295114]\|Inborn genetic diseases [RCV004967956]	uncertain significance	16	17141324	17141324	Human	2	name
405292475	CV3192470	microsatellite	NM_022166.4(XYLT1):c.256GGA[4] (p.Gly90del)	XYLT1-related disorder [RCV003929730]	benign	16	17470527	17470529	Human		name , trait , alternate_id
14393197	CV610578	deletion	NM_022166.4(XYLT1):c.281_306del (p.Gln94fs)	Desbuquois dysplasia 2 [RCV000758145]	pathogenic	16	17470491	17470516	Human	1	name
15134097	CV785159	microsatellite	NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup)	Desbuquois dysplasia 1 [RCV001484666]	likely benign	16	17470548	17470549	Human		name
150501309	CV1238363	insertion	NM_022166.4(XYLT1):c.1764+307_1764+308insTCT	not provided [RCV001656793]	benign	16	17138047	17138048	Human		name
151749339	CV1465297	microsatellite	NM_022166.4(XYLT1):c.178GCCCCG[3] (p.60AP[3])	Desbuquois dysplasia 1 [RCV002043116]	uncertain significance	16	17470607	17470608	Human		name
126732862	CV1021417	duplication	NM_022166.4(XYLT1):c.1689_1692dup (p.Tyr565fs)	Desbuquois dysplasia 2 [RCV001334144]	pathogenic	16	17138426	17138427	Human		name
13485914	CV445507	deletion	NM_022166.4(XYLT1):c.2122_2123del (p.Ala708fs)	Desbuquois dysplasia 1 [RCV005091246]\|not provided [RCV000522741]	pathogenic\|likely pathogenic	16	17127766	17127767	Human	1	name
156215057	CV2110885	deletion	NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del)	Desbuquois dysplasia 1 [RCV002932226]	uncertain significance	16	17108848	17108850	Human	1	name
126733737	CV1032396	microsatellite	NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup)	Desbuquois dysplasia 1 [RCV001349829]	uncertain significance	16	17470526	17470527	Human		name
126755310	CV1011898	duplication	NM_022166.4(XYLT1):c.200_208dup (p.Arg67_Asp69dup)	Desbuquois dysplasia 1 [RCV001316912]	uncertain significance	16	17470588	17470589	Human	1	name
151785838	CV1397269	deletion	NM_022166.4(XYLT1):c.279_284del (p.Gln94_Ala95del)	Desbuquois dysplasia 1 [RCV001930889]	uncertain significance	16	17470513	17470518	Human	1	name
156164244	CV1986067	deletion	NM_022166.4(XYLT1):c.249_269del (p.Gly84_Gly90del)	Desbuquois dysplasia 1 [RCV002642519]	uncertain significance	16	17470528	17470548	Human	1	name
402502629	CV2894400	deletion	NM_022166.4(XYLT1):c.-110_280del (p.Met1_Gln94del)	Desbuquois dysplasia 1 [RCV003494646]	pathogenic	16	17470517	17470906	Human	1	name
156059925	CV1876213	microsatellite	NM_022166.4(XYLT1):c.71TGC[5] (p.Leu27_Gln28insLeu)	Desbuquois dysplasia 1 [RCV003053305]	uncertain significance	16	17470714	17470715	Human		name
405867803	CV3396625	deletion	NM_022166.4(XYLT1):c.578del (p.Leu192_Leu193insTer)	Desbuquois dysplasia 2 [RCV004560497]	likely pathogenic	16	17259323	17259323	Human	1	name
12907017	CV415474	duplication	NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer)	Desbuquois dysplasia 2 [RCV000758147]\|not provided [RCV000489929]	pathogenic	16	17138385	17138386	Human	1	name
156388746	CV2231975	duplication	NM_022166.4(XYLT1):c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp)	Inborn genetic diseases [RCV002724196]	uncertain significance	16	17138406	17138407	Human	1	name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message