Sms Variant Search Result - Rat Genome Database

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165 records found for search term Sms

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150503295	CV1241773	single nucleotide variant	NM_004595.5(SMS):c.-92A>G	not provided [RCV001657364]	benign	X	21940733	21940733	Human		name
151728645	CV1517552	single nucleotide variant	NM_004595.5(SMS):c.865+2T>C	Syndromic X-linked intellectual disability Snyder type [RCV002052168]	likely pathogenic	X	21984420	21984420	Human	1	name
10053023	CV195678	single nucleotide variant	NM_004595.5(SMS):c.661-5C>T	Inborn genetic diseases [RCV002372103]\|not provided [RCV000179891]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	21978872	21978872	Human	1	name
156062236	CV1975196	single nucleotide variant	NM_004595.5(SMS):c.265-9T>G	not provided [RCV002591016]	likely benign	X	21972498	21972498	Human		name
156241585	CV2286136	single nucleotide variant	NM_004595.5(SMS):c.264+3C>G	Inborn genetic diseases [RCV002854272]	uncertain significance	X	21971993	21971993	Human	1	name
8598737	CV26662	single nucleotide variant	NM_004595.5(SMS):c.329+5G>A	Syndromic X-linked intellectual disability Snyder type [RCV000012389]	pathogenic	X	21972576	21972576	Human	1	name
405289491	CV3218249	single nucleotide variant	NM_004595.5(SMS):c.661-1C>T	SMS-related disorder [RCV004544192]	likely pathogenic	X	21978876	21978876	Human		name , trait , alternate_id
408391291	CV3527950	single nucleotide variant	NM_004595.5(SMS):c.946-3T>G	not provided [RCV004775222]	uncertain significance	X	21992594	21992594	Human		name
596921756	CV3535382	single nucleotide variant	NM_004595.5(SMS):c.170+3G>C	Syndromic X-linked intellectual disability Snyder type [RCV004784937]	uncertain significance	X	21967319	21967319	Human	1	name
12833005	CV379284	single nucleotide variant	NM_004595.5(SMS):c.661-4G>T	not specified [RCV000417669]	likely benign	X	21978873	21978873	Human		name
598125604	CV3885837	single nucleotide variant	NM_004595.5(SMS):c.751-3A>G	not provided [RCV005241640]	uncertain significance	X	21984301	21984301	Human		name
13830795	CV580764	single nucleotide variant	NM_004595.5(SMS):c.505+3A>G	History of neurodevelopmental disorder [RCV000720966]\|not provided [RCV001302433]	uncertain significance	X	21977239	21977239	Human		name
150463285	CV1253782	single nucleotide variant	NM_004595.5(SMS):c.866-32T>C	Syndromic X-linked intellectual disability Snyder type [RCV001810214]\|not provided [RCV001669824]	benign	X	21985112	21985112	Human	1	name
150470121	CV1259772	single nucleotide variant	NM_004595.5(SMS):c.50-321G>A	not provided [RCV001684074]	benign	X	21966875	21966875	Human		name
150453728	CV1260558	single nucleotide variant	NM_004595.5(SMS):c.329+64G>A	not provided [RCV001681050]	benign	X	21972635	21972635	Human		name
150444555	CV1288039	single nucleotide variant	NM_004595.5(SMS):c.170+30C>T	Syndromic X-linked intellectual disability Snyder type [RCV001810298]\|not provided [RCV001725761]	benign	X	21967346	21967346	Human	1	name
155731745	CV1834937	single nucleotide variant	NM_004595.5(SMS):c.1061+4T>C	Inborn genetic diseases [RCV002407785]	uncertain significance	X	21992716	21992716	Human	1	name
155938558	CV2135215	duplication	NM_004595.5(SMS):c.865+12dup	not provided [RCV002993898]	benign	X	21984423	21984424	Human		name
243061319	CV2408832	single nucleotide variant	NM_004595.5(SMS):c.1061+2T>C	Syndromic X-linked intellectual disability Snyder type [RCV003138549]	uncertain significance	X	21992714	21992714	Human	1	name
401830089	CV2744089	single nucleotide variant	NM_004595.5(SMS):c.49+250C>A	not provided [RCV003327287]	likely benign	X	21941123	21941123	Human		name
401918754	CV2821347	single nucleotide variant	NM_004595.5(SMS):c.49+203G>A	not provided [RCV003430438]	likely benign	X	21941076	21941076	Human		name
405117998	CV2997361	single nucleotide variant	NM_004595.5(SMS):c.170+14A>G	not provided [RCV003723569]	likely benign	X	21967330	21967330	Human		name
408387559	CV3526064	single nucleotide variant	NM_004595.5(SMS):c.661-13A>C	Syndromic X-linked intellectual disability Snyder type [RCV004768450]	pathogenic	X	21978864	21978864	Human	1	name
597849934	CV3761735	single nucleotide variant	NM_004595.5(SMS):c.865+12T>C	not provided [RCV005087831]	benign	X	21984430	21984430	Human		name
41407061	CV983244	single nucleotide variant	NM_004595.5(SMS):c.330-10C>G	not provided [RCV001289229]	uncertain significance	X	21977051	21977051	Human		name
150339266	CV1167800	single nucleotide variant	NM_004595.5(SMS):c.329+151A>G	not provided [RCV001534121]	benign	X	21972722	21972722	Human		name
150331677	CV1169948	single nucleotide variant	NM_004595.5(SMS):c.750+201C>G	not provided [RCV001536576]	benign	X	21979167	21979167	Human		name
150514202	CV1210910	single nucleotide variant	NM_004595.5(SMS):c.265-170G>C	not provided [RCV001598953]	benign	X	21972337	21972337	Human		name
150511259	CV1212686	single nucleotide variant	NM_004595.5(SMS):c.329+175T>C	not provided [RCV001597917]	benign	X	21972746	21972746	Human		name
150484937	CV1222600	single nucleotide variant	NM_004595.5(SMS):c.329+153T>C	not provided [RCV001617603]	benign	X	21972724	21972724	Human		name
150508918	CV1229762	single nucleotide variant	NM_004595.5(SMS):c.865+320G>A	not provided [RCV001636341]	benign	X	21984738	21984738	Human		name
150498397	CV1235559	single nucleotide variant	NM_004595.5(SMS):c.171-162C>A	not provided [RCV001656242]	benign	X	21971735	21971735	Human		name
150497598	CV1236387	single nucleotide variant	NM_004595.5(SMS):c.865+175A>G	not provided [RCV001656112]	benign	X	21984593	21984593	Human		name
150509891	CV1248410	single nucleotide variant	NM_004595.5(SMS):c.330-211C>T	not provided [RCV001659478]	benign	X	21976850	21976850	Human		name
150461975	CV1264671	duplication	NM_004595.5(SMS):c.750+233dup	not provided [RCV001682295]	benign	X	21979188	21979189	Human		name
150448523	CV1270473	single nucleotide variant	NM_004595.5(SMS):c.329+177A>G	not provided [RCV001691611]	benign	X	21972748	21972748	Human		name
150462257	CV1272985	single nucleotide variant	NM_004595.5(SMS):c.170+302A>C	not provided [RCV001693742]	benign	X	21967618	21967618	Human		name
150444568	CV1288041	single nucleotide variant	NM_004595.5(SMS):c.170+109C>A	not provided [RCV001725763]	benign	X	21967425	21967425	Human		name
152980647	CV1676038	single nucleotide variant	NM_004595.5(SMS):c.264+105A>G	not provided [RCV002245107]	likely benign	X	21972095	21972095	Human		name
156321458	CV2057128	single nucleotide variant	NM_004595.5(SMS):c.1062-19T>A	not provided [RCV002810101]	likely benign	X	21994293	21994293	Human		name
405120425	CV3131481	single nucleotide variant	NM_004595.5(SMS):c.1061+14G>A	not provided [RCV003837345]	benign	X	21992726	21992726	Human		name
155795985	CV1861587	microsatellite	NM_004595.5(SMS):c.50-139TTTA[8]	not provided [RCV002469870]	likely benign	X	21967057	21967060	Human		name
150444563	CV1288040	microsatellite	NM_004595.5(SMS):c.50-139TTTA[10]	not provided [RCV001725762]	benign	X	21967056	21967057	Human		name
150333240	CV1169947	deletion	NM_004595.5(SMS):c.50-108_50-89del	not provided [RCV001537228]	benign	X	21967074	21967093	Human		name
150486023	CV1262214	deletion	NM_004595.5(SMS):c.50-103_50-96del	not provided [RCV001686905]	benign	X	21967086	21967093	Human		name
150471315	CV1259090	deletion	NM_004595.5(SMS):c.50-103_50-100del	not provided [RCV001684335]	benign	X	21967090	21967093	Human		name
155738419	CV1797897	single nucleotide variant	NM_004595.5(SMS):c.42C>T (p.Gly14=)	Inborn genetic diseases [RCV002331865]\|SMS-related disorder [RCV004725232]	likely benign	X	21940866	21940866	Human	2	name , trait , alternate_id
15099592	CV786781	single nucleotide variant	NM_004595.5(SMS):c.45C>G (p.Ala15=)	not provided [RCV000975280]	likely benign	X	21940869	21940869	Human		name
15103467	CV786782	single nucleotide variant	NM_004595.5(SMS):c.63C>T (p.Thr21=)	not provided [RCV000976024]	benign	X	21967209	21967209	Human		name
21070423	CV798256	single nucleotide variant	NM_004595.5(SMS):c.3G>A (p.Met1Ile)	not provided [RCV000999350]	uncertain significance	X	21940827	21940827	Human		name
401920675	CV2804019	single nucleotide variant	NM_004595.5(SMS):c.13C>T (p.Arg5Trp)	SMS-related disorder [RCV004531723]	uncertain significance	X	21940837	21940837	Human		name , trait , alternate_id
597946509	CV3841672	single nucleotide variant	NM_004595.5(SMS):c.108G>A (p.Ala36=)	not provided [RCV005189105]	benign	X	21967254	21967254	Human		name
598123275	CV3890273	single nucleotide variant	NM_004595.5(SMS):c.25C>G (p.Leu9Val)	not provided [RCV005250792]	uncertain significance	X	21940849	21940849	Human		name
13829817	CV581066	single nucleotide variant	NM_004595.5(SMS):c.114G>A (p.Ser38=)	Inborn genetic diseases [RCV002318121]\|Syndromic X-linked intellectual disability Snyder type [RCV002507258]\|not provided [RCV000934691]	likely benign	X	21967260	21967260	Human	2	name
15157436	CV743278	single nucleotide variant	NM_004595.5(SMS):c.171C>T (p.Ser57=)	Inborn genetic diseases [RCV002399993]\|not provided [RCV000902528]	benign	X	21971897	21971897	Human	1	name
28889460	CV903651	single nucleotide variant	NM_004595.5(SMS):c.13C>G (p.Arg5Gly)	Syndromic X-linked intellectual disability Snyder type [RCV001169877]	uncertain significance	X	21940837	21940837	Human	1	name
155664263	CV1785968	single nucleotide variant	NM_004595.5(SMS):c.339C>T (p.Pro113=)	Inborn genetic diseases [RCV002451990]	likely benign	X	21977070	21977070	Human	1	name
155697451	CV1800958	single nucleotide variant	NM_004595.5(SMS):c.603C>T (p.Asp201=)	Inborn genetic diseases [RCV002358216]	likely benign	X	21978057	21978057	Human	1	name
155689409	CV1803989	single nucleotide variant	NM_004595.5(SMS):c.597T>G (p.Gly199=)	Inborn genetic diseases [RCV002356143]	likely benign	X	21978051	21978051	Human	1	name
155744762	CV1820618	single nucleotide variant	NM_004595.5(SMS):c.852G>A (p.Thr284=)	Inborn genetic diseases [RCV002414431]\|SMS-related disorder [RCV004736166]	likely benign	X	21984405	21984405	Human	2	name , trait , alternate_id
155742551	CV1823725	single nucleotide variant	NM_004595.5(SMS):c.804A>G (p.Arg268=)	Inborn genetic diseases [RCV002412444]	likely benign	X	21984357	21984357	Human	1	name
155705234	CV1824102	single nucleotide variant	NM_004595.5(SMS):c.843A>G (p.Pro281=)	Inborn genetic diseases [RCV002445927]\|not provided [RCV005097237]	benign	X	21984396	21984396	Human	1	name
10049714	CV190837	single nucleotide variant	NM_004595.5(SMS):c.978G>A (p.Ser326=)	Inborn genetic diseases [RCV002316997]\|not provided [RCV000173806]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	21992629	21992629	Human	1	name
10403516	CV209000	single nucleotide variant	NM_004595.5(SMS):c.330A>G (p.Arg110=)	not specified [RCV000192724]	uncertain significance	X	21977061	21977061	Human		name
10404081	CV209001	single nucleotide variant	NM_004595.5(SMS):c.714C>T (p.Gly238=)	Inborn genetic diseases [RCV002315507]\|not specified [RCV000194134]	likely benign\|uncertain significance	X	21978930	21978930	Human	1	name
401918756	CV2821348	single nucleotide variant	NM_004595.5(SMS):c.381C>T (p.Ala127=)	not provided [RCV003430439]	likely benign	X	21977112	21977112	Human		name
405181345	CV3057312	single nucleotide variant	NM_004595.5(SMS):c.426C>T (p.Asp142=)	not provided [RCV003728807]	benign	X	21977157	21977157	Human		name
405260936	CV3185982	single nucleotide variant	NM_004595.5(SMS):c.40G>C (p.Gly14Arg)	not provided [RCV003885058]	uncertain significance	X	21940864	21940864	Human		name
405283295	CV3191321	single nucleotide variant	NM_004595.5(SMS):c.966A>C (p.Thr322=)	SMS-related disorder [RCV004539309]	likely benign	X	21992617	21992617	Human		name , trait , alternate_id
405277614	CV3195935	single nucleotide variant	NM_004595.5(SMS):c.936T>C (p.Tyr312=)	SMS-related disorder [RCV004537093]	likely benign	X	21985214	21985214	Human		name , trait , alternate_id
405871951	CV3398156	single nucleotide variant	NM_004595.5(SMS):c.369C>T (p.Tyr123=)	not provided [RCV004575157]	likely benign	X	21977100	21977100	Human		name
408392248	CV3528055	single nucleotide variant	NM_004595.5(SMS):c.85A>G (p.Ile29Val)	not provided [RCV004775823]	uncertain significance	X	21967231	21967231	Human		name
598170450	CV3915219	single nucleotide variant	NM_004595.5(SMS):c.86T>C (p.Ile29Thr)	Inborn genetic diseases [RCV005284602]	uncertain significance	X	21967232	21967232	Human	1	name
13829376	CV580767	single nucleotide variant	NM_004595.5(SMS):c.789C>T (p.Tyr263=)	Inborn genetic diseases [RCV002313671]	likely benign	X	21984342	21984342	Human	1	name
13830821	CV581067	single nucleotide variant	NM_004595.5(SMS):c.561A>G (p.Glu187=)	Inborn genetic diseases [RCV002318881]\|SMS-related disorder [RCV004540026]\|not provided [RCV000918745]	benign\|likely benign	X	21978015	21978015	Human	2	name , trait , alternate_id
8642069	CV101053	single nucleotide variant	NM_004595.5(SMS):c.104T>A (p.Met35Lys)	not provided [RCV000081159]	uncertain significance	X	21967250	21967250	Human		name
150406290	CV1200220	single nucleotide variant	NM_004595.5(SMS):c.152A>G (p.Tyr51Cys)	Syndromic X-linked intellectual disability Snyder type [RCV001580277]\|not provided [RCV001773773]	likely pathogenic\|uncertain significance	X	21967298	21967298	Human	1	name
153301947	CV1689376	single nucleotide variant	NM_004595.5(SMS):c.136G>A (p.Gly46Ser)	not provided [RCV002267326]	uncertain significance	X	21967282	21967282	Human		name
10047663	CV190838	single nucleotide variant	NM_004595.5(SMS):c.1026A>C (p.Ser342=)	Inborn genetic diseases [RCV002313027]\|SMS-related disorder [RCV004535190]\|Syndromic X-linked intellectual disability Snyder type [RCV000601014]\|not provided [RCV000889845]\|not specified [RCV000173807]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	21992677	21992677	Human	2	name , trait , alternate_id
155983572	CV2367788	single nucleotide variant	NM_004595.5(SMS):c.107C>T (p.Ala36Val)	Inborn genetic diseases [RCV002688593]	likely benign	X	21967253	21967253	Human	1	name
243061316	CV2408829	single nucleotide variant	NM_004595.5(SMS):c.113C>T (p.Ser38Leu)	Syndromic X-linked intellectual disability Snyder type [RCV003138546]	uncertain significance	X	21967259	21967259	Human	1	name
243061317	CV2408830	single nucleotide variant	NM_004595.5(SMS):c.289A>G (p.Met97Val)	Syndromic X-linked intellectual disability Snyder type [RCV003138547]	uncertain significance	X	21972531	21972531	Human	1	name
243061320	CV2408833	single nucleotide variant	NM_004595.5(SMS):c.261C>G (p.Asp87Glu)	Syndromic X-linked intellectual disability Snyder type [RCV003138550]	uncertain significance	X	21971987	21971987	Human	1	name
8598738	CV26663	single nucleotide variant	NM_004595.5(SMS):c.166G>A (p.Gly56Ser)	Inborn genetic diseases [RCV000210586]\|Syndromic X-linked intellectual disability Snyder type [RCV000012390]\|not provided [RCV000414369]	pathogenic\|likely pathogenic	X	21967312	21967312	Human	2	name
401922964	CV2796570	single nucleotide variant	NM_004595.5(SMS):c.200G>T (p.Gly67Val)	SMS-related disorder [RCV004527931]	likely pathogenic\|uncertain significance	X	21971926	21971926	Human		name , trait , alternate_id
401934965	CV2800895	single nucleotide variant	NM_004595.5(SMS):c.111G>T (p.Glu37Asp)	SMS-related disorder [RCV004529836]	uncertain significance	X	21967257	21967257	Human		name , trait , alternate_id
401913253	CV2830284	single nucleotide variant	NM_004595.5(SMS):c.238G>A (p.Ala80Thr)	not provided [RCV003441499]	uncertain significance	X	21971964	21971964	Human		name
401914455	CV2830704	single nucleotide variant	NM_004595.5(SMS):c.182T>C (p.Leu61Ser)	not provided [RCV003442442]	uncertain significance	X	21971908	21971908	Human		name
405270742	CV3212116	single nucleotide variant	NM_004595.5(SMS):c.1020A>G (p.Glu340=)	SMS-related disorder [RCV004543936]	likely benign	X	21992671	21992671	Human		name , trait , alternate_id
405853173	CV3393606	single nucleotide variant	NM_004595.5(SMS):c.1044C>A (p.Val348=)	not provided [RCV004546336]	likely benign	X	21992695	21992695	Human		name
407453623	CV3416363	single nucleotide variant	NM_004595.5(SMS):c.233G>C (p.Gly78Ala)	not provided [RCV004597621]	uncertain significance	X	21971959	21971959	Human		name
597878450	CV3763266	single nucleotide variant	NM_004595.5(SMS):c.160A>G (p.Lys54Glu)	not provided [RCV005108861]	uncertain significance	X	21967306	21967306	Human		name
616937677	CV4014849	single nucleotide variant	NM_004595.5(SMS):c.161A>G (p.Lys54Arg)	not provided [RCV005411865]	uncertain significance	X	21967307	21967307	Human		name
8621828	CV76584	single nucleotide variant	NM_004595.5(SMS):c.174T>A (p.Phe58Leu)	Syndromic X-linked intellectual disability Snyder type [RCV000055902]	pathogenic\|not provided	X	21971900	21971900	Human	1	name
8621829	CV76585	single nucleotide variant	NM_004595.5(SMS):c.200G>A (p.Gly67Glu)	Syndromic X-linked intellectual disability Snyder type [RCV000055903]\|not provided [RCV003221798]	pathogenic	X	21971926	21971926	Human	1	name
126737010	CV1001254	single nucleotide variant	NM_004595.5(SMS):c.350G>T (p.Gly117Val)	not provided [RCV001311824]	likely pathogenic	X	21977081	21977081	Human		name
150334706	CV1166445	single nucleotide variant	NM_004595.5(SMS):c.335C>T (p.Pro112Leu)	Inborn genetic diseases [RCV002568187]\|Syndromic X-linked intellectual disability Snyder type [RCV004579577]\|not provided [RCV001531137]	pathogenic\|uncertain significance	X	21977066	21977066	Human	2	name
150334708	CV1166446	single nucleotide variant	NM_004595.5(SMS):c.535C>T (p.Arg179Trp)	not provided [RCV001531138]	uncertain significance	X	21977989	21977989	Human		name
150533195	CV1294118	single nucleotide variant	NM_004595.5(SMS):c.625G>C (p.Val209Leu)	not provided [RCV001758136]	uncertain significance	X	21978079	21978079	Human		name
150554413	CV1295847	single nucleotide variant	NM_004595.5(SMS):c.979C>A (p.Leu327Ile)	not provided [RCV001771078]	uncertain significance	X	21992630	21992630	Human		name
151352210	CV1322314	single nucleotide variant	NM_004595.5(SMS):c.997G>C (p.Gly333Arg)	Inborn genetic diseases [RCV002386572]\|Syndromic X-linked intellectual disability Snyder type [RCV002478035]\|not provided [RCV001806937]	uncertain significance	X	21992648	21992648	Human	2	name
151662874	CV1333511	single nucleotide variant	NM_004595.5(SMS):c.746A>G (p.Tyr249Cys)	not provided [RCV001837703]	uncertain significance	X	21978962	21978962	Human		name
151716985	CV1334817	single nucleotide variant	NM_004595.5(SMS):c.319C>T (p.Arg107Trp)	Developmental disorder [RCV001843773]	uncertain significance	X	21972561	21972561	Human	1	name
151864135	CV1336785	single nucleotide variant	NM_004595.5(SMS):c.329G>A (p.Arg110Gln)	Syndromic X-linked intellectual disability Snyder type [RCV002243469]\|not provided [RCV002034826]	pathogenic\|uncertain significance	X	21972571	21972571	Human	1	name
151814026	CV1382280	single nucleotide variant	NM_004595.5(SMS):c.505A>G (p.Asn169Asp)	not provided [RCV001992106]	uncertain significance	X	21977236	21977236	Human		name
153301789	CV1687932	single nucleotide variant	NM_004595.5(SMS):c.875G>T (p.Trp292Leu)	not provided [RCV002265158]	likely pathogenic\|uncertain significance	X	21985153	21985153	Human		name
155645508	CV1708956	single nucleotide variant	NM_004595.5(SMS):c.742T>G (p.Cys248Gly)	not provided [RCV002291832]	uncertain significance	X	21978958	21978958	Human		name
155730140	CV1819817	single nucleotide variant	NM_004595.5(SMS):c.773C>T (p.Pro258Leu)	Inborn genetic diseases [RCV002400765]	uncertain significance	X	21984326	21984326	Human	1	name
155800831	CV1863835	single nucleotide variant	NM_004595.5(SMS):c.698T>C (p.Met233Thr)	not provided [RCV002474258]	uncertain significance	X	21978914	21978914	Human		name
155961999	CV1936580	single nucleotide variant	NM_004595.5(SMS):c.697A>G (p.Met233Val)	not provided [RCV002512399]	likely pathogenic	X	21978913	21978913	Human		name
10048996	CV195338	single nucleotide variant	NM_004595.5(SMS):c.569C>T (p.Thr190Ile)	Inborn genetic diseases [RCV002314661]\|not provided [RCV000930025]\|not specified [RCV000179446]	benign\|likely benign	X	21978023	21978023	Human	1	name
10053022	CV195677	single nucleotide variant	NM_004595.5(SMS):c.699G>A (p.Met233Ile)	not provided [RCV000179890]	uncertain significance	X	21978915	21978915	Human		name
155944683	CV2237837	single nucleotide variant	NM_004595.5(SMS):c.700C>T (p.Arg234Ter)	Inborn genetic diseases [RCV002752361]\|Syndromic X-linked intellectual disability Snyder type [RCV003333236]	pathogenic\|likely pathogenic	X	21978916	21978916	Human	2	name
243051367	CV2403931	single nucleotide variant	NM_004595.5(SMS):c.685T>G (p.Cys229Gly)	not provided [RCV003128901]	uncertain significance	X	21978901	21978901	Human		name
243052978	CV2418064	single nucleotide variant	NM_004595.5(SMS):c.335C>A (p.Pro112Gln)	Syndromic X-linked intellectual disability Snyder type [RCV003153129]	likely pathogenic\|uncertain significance	X	21977066	21977066	Human	1	name
329375461	CV2468616	single nucleotide variant	NM_004595.5(SMS):c.564T>G (p.Asp188Glu)	Inborn genetic diseases [RCV003211164]	uncertain significance	X	21978018	21978018	Human	1	name
329848680	CV2523428	single nucleotide variant	NM_004595.5(SMS):c.382G>A (p.Asp128Asn)	not provided [RCV003225442]	uncertain significance	X	21977113	21977113	Human		name
329848883	CV2523634	single nucleotide variant	NM_004595.5(SMS):c.674T>C (p.Val225Ala)	Syndromic X-linked intellectual disability Snyder type [RCV003225648]	likely pathogenic	X	21978890	21978890	Human	1	name
8598739	CV26664	single nucleotide variant	NM_004595.5(SMS):c.395T>G (p.Val132Gly)	Syndromic X-linked intellectual disability Snyder type [RCV000012391]	pathogenic	X	21977126	21977126	Human	1	name
329954297	CV2669505	single nucleotide variant	NM_004595.5(SMS):c.874T>C (p.Trp292Arg)	not provided [RCV003232013]	uncertain significance	X	21985152	21985152	Human		name
401799272	CV2741851	single nucleotide variant	NM_004595.5(SMS):c.735A>T (p.Lys245Asn)	not provided [RCV003323259]	uncertain significance	X	21978951	21978951	Human		name
401856975	CV2759904	single nucleotide variant	NM_004595.5(SMS):c.741C>G (p.Asp247Glu)	Inborn genetic diseases [RCV003356445]	uncertain significance	X	21978957	21978957	Human	1	name
401913852	CV2799139	single nucleotide variant	NM_004595.5(SMS):c.758T>G (p.Ile253Arg)	SMS-related disorder [RCV004531650]	uncertain significance	X	21984311	21984311	Human		name , trait , alternate_id
401931792	CV2801767	single nucleotide variant	NM_004595.5(SMS):c.620A>C (p.Glu207Ala)	SMS-related disorder [RCV004529293]	uncertain significance	X	21978074	21978074	Human		name , trait , alternate_id
405197006	CV2976175	single nucleotide variant	NM_004595.5(SMS):c.790G>T (p.Ala264Ser)	not provided [RCV003677772]	uncertain significance	X	21984343	21984343	Human		name
405262741	CV3185026	single nucleotide variant	NM_004595.5(SMS):c.977C>T (p.Ser326Leu)	not provided [RCV003885590]	uncertain significance	X	21992628	21992628	Human		name
405713173	CV3325954	single nucleotide variant	NM_004595.5(SMS):c.301A>G (p.Ser101Gly)	Inborn genetic diseases [RCV004462097]	likely benign	X	21972543	21972543	Human	1	name
405873089	CV3398392	single nucleotide variant	NM_004595.5(SMS):c.727A>G (p.Asn243Asp)	not provided [RCV004575888]	uncertain significance	X	21978943	21978943	Human		name
408377464	CV3501587	single nucleotide variant	NM_004595.5(SMS):c.923A>G (p.Gln308Arg)	not provided [RCV004727645]	uncertain significance	X	21985201	21985201	Human		name
408370069	CV3502988	single nucleotide variant	NM_004595.5(SMS):c.946G>A (p.Gly316Arg)	not provided [RCV004724109]	uncertain significance	X	21992597	21992597	Human		name
408386411	CV3522507	single nucleotide variant	NM_004595.5(SMS):c.673G>C (p.Val225Leu)	not provided [RCV004767867]	uncertain significance	X	21978889	21978889	Human		name
408391283	CV3523134	duplication	NM_004595.5(SMS):c.1037dup (p.Cys347fs)	not provided [RCV004770506]	uncertain significance	X	21992687	21992688	Human		name
408392549	CV3528172	single nucleotide variant	NM_004595.5(SMS):c.644T>C (p.Met215Thr)	not provided [RCV004775940]	uncertain significance	X	21978098	21978098	Human		name
596931037	CV3529879	single nucleotide variant	NM_004595.5(SMS):c.310A>T (p.Ser104Cys)	not provided [RCV004780929]	uncertain significance	X	21972552	21972552	Human		name
598223032	CV3892218	single nucleotide variant	NM_004595.5(SMS):c.857C>T (p.Pro286Leu)	Syndromic X-linked intellectual disability Snyder type [RCV005253557]	uncertain significance	X	21984410	21984410	Human	1	name
616935665	CV4016176	single nucleotide variant	NM_004595.5(SMS):c.637C>T (p.Pro213Ser)	not provided [RCV005415042]	uncertain significance	X	21978091	21978091	Human		name
12893942	CV411257	single nucleotide variant	NM_004595.5(SMS):c.831G>T (p.Leu277Phe)	not provided [RCV000480904]	likely pathogenic	X	21984384	21984384	Human		name
13442640	CV434693	single nucleotide variant	NM_004595.5(SMS):c.665A>T (p.Asp222Val)	SMS-related disorder [RCV000509103]\|not provided [RCV000522772]	likely pathogenic\|not provided	X	21978881	21978881	Human	1	name , trait , alternate_id
13530278	CV512642	single nucleotide variant	NM_004595.5(SMS):c.638C>A (p.Pro213Gln)	Inborn genetic diseases [RCV000622379]	likely pathogenic\|uncertain significance	X	21978092	21978092	Human	1	name
13828919	CV580928	single nucleotide variant	NM_004595.5(SMS):c.820A>G (p.Ile274Val)	Inborn genetic diseases [RCV002316156]	uncertain significance	X	21984373	21984373	Human	1	name
14395677	CV611446	single nucleotide variant	NM_004595.5(SMS):c.581T>G (p.Val194Gly)	Smith-Magenis syndrome [RCV000760247]	likely pathogenic	X	21978035	21978035	Human	1	name
8621830	CV76587	single nucleotide variant	NM_004595.5(SMS):c.443A>G (p.Gln148Arg)	Syndromic X-linked intellectual disability Snyder type [RCV000055905]	pathogenic	X	21977174	21977174	Human	1	name
8621831	CV76588	single nucleotide variant	NM_004595.5(SMS):c.449T>C (p.Ile150Thr)	Snyder Robinson syndrome [RCV000055906]	pathogenic	X	21977180	21977180	Human		name
8621832	CV76589	single nucleotide variant	NM_004595.5(SMS):c.983A>C (p.Tyr328Ser)	Snyder Robinson syndrome [RCV000055907]	pathogenic	X	21992634	21992634	Human		name
21068842	CV788951	single nucleotide variant	NM_004595.5(SMS):c.799G>A (p.Gly267Arg)	Syndromic X-linked intellectual disability Snyder type [RCV000985012]	uncertain significance	X	21984352	21984352	Human	1	name
25316812	CV804834	single nucleotide variant	NM_004595.5(SMS):c.388C>T (p.Arg130Cys)	Syndromic X-linked intellectual disability Snyder type [RCV001007564]	pathogenic	X	21977119	21977119	Human	1	name
39456188	CV815959	single nucleotide variant	NM_004595.5(SMS):c.608G>A (p.Gly203Asp)	Syndromic X-linked intellectual disability Snyder type [RCV001255181]	pathogenic	X	21978062	21978062	Human	1	name
26916880	CV849885	single nucleotide variant	NM_004595.5(SMS):c.844A>G (p.Ile282Val)	not provided [RCV001041036]	uncertain significance	X	21984397	21984397	Human		name
34890274	CV904253	single nucleotide variant	NM_004595.5(SMS):c.410A>G (p.Asp137Gly)	Syndromic X-linked intellectual disability Snyder type [RCV001171510]	likely pathogenic	X	21977141	21977141	Human	1	name
38461823	CV920008	single nucleotide variant	NM_004595.5(SMS):c.872C>A (p.Thr291Lys)	Syndromic X-linked intellectual disability Snyder type [RCV001197950]\|not provided [RCV003770213]	uncertain significance	X	21985150	21985150	Human	1	name
8639022	CV94346	single nucleotide variant	NM_004595.5(SMS):c.983A>G (p.Tyr328Cys)	Syndromic X-linked intellectual disability Snyder type [RCV000074415]	pathogenic	X	21992634	21992634	Human	1	name
38464131	CV961419	single nucleotide variant	NM_004595.5(SMS):c.905C>T (p.Ser302Leu)	Intellectual disability [RCV001249470]	pathogenic	X	21985183	21985183	Human	2	name
38465396	CV961816	single nucleotide variant	NM_004595.5(SMS):c.328C>G (p.Arg110Gly)	Syndromic X-linked intellectual disability Snyder type [RCV001250132]	likely pathogenic	X	21972570	21972570	Human	1	name
126730127	CV969716	single nucleotide variant	NM_004595.5(SMS):c.587T>C (p.Ile196Thr)	Syndromic X-linked intellectual disability Snyder type [RCV001310252]	likely pathogenic	X	21978041	21978041	Human	1	name
126739825	CV1018971	single nucleotide variant	NM_004595.5(SMS):c.1019A>G (p.Glu340Gly)	Inborn genetic diseases [RCV002368110]\|Syndromic X-linked intellectual disability Snyder type [RCV001329289]	likely benign\|uncertain significance	X	21992670	21992670	Human	2	name
150422766	CV1182093	single nucleotide variant	NM_004595.5(SMS):c.1045C>A (p.Pro349Thr)	not provided [RCV001553087]	likely pathogenic	X	21992696	21992696	Human		name
150428015	CV1189079	single nucleotide variant	NM_004595.5(SMS):c.1033A>G (p.Ile345Val)	not provided [RCV001561696]	uncertain significance	X	21992684	21992684	Human		name
155710724	CV1841596	single nucleotide variant	NM_004595.5(SMS):c.1096C>T (p.Pro366Ser)	Inborn genetic diseases [RCV002430666]	uncertain significance	X	21994346	21994346	Human	1	name
401914207	CV2830624	single nucleotide variant	NM_004595.5(SMS):c.1081T>C (p.Trp361Arg)	not provided [RCV003442362]	uncertain significance	X	21994331	21994331	Human		name
597886697	CV3741860	single nucleotide variant	NM_004595.5(SMS):c.1001G>A (p.Arg334His)	not provided [RCV005070580]	benign	X	21992652	21992652	Human		name
597933810	CV3742741	single nucleotide variant	NM_004595.5(SMS):c.1093A>C (p.Lys365Gln)	not provided [RCV005076180]	uncertain significance	X	21994343	21994343	Human		name
597935050	CV3863600	single nucleotide variant	NM_004595.5(SMS):c.1012C>T (p.Pro338Ser)	not provided [RCV005207413]	uncertain significance	X	21992663	21992663	Human		name
15015396	CV615269	deletion	NM_004595.5(SMS):c.908_911del (p.Met303fs)	Syndromic X-linked intellectual disability Snyder type [RCV000853623]	pathogenic	X	21985184	21985187	Human	1	name
405745328	CV3226261	deletion	NM_004595.5(SMS):c.641_643del (p.Lys214del)	Syndromic X-linked intellectual disability Snyder type [RCV003991252]	uncertain significance	X	21978094	21978096	Human	1	name
150543173	CV1309351	deletion	NM_004595.5(SMS):c.1098del (p.Ter367GluextTer?)	not provided [RCV003238423]	uncertain significance	X	21994346	21994346	Human		name

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