Hgs Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15158840	CV760673	single nucleotide variant	NM_004712.5(HGS):c.416-9T>C	not provided [RCV000925159]	likely benign	17	81690173	81690173	Human		name
15185707	CV778426	single nucleotide variant	NM_004712.5(HGS):c.199-9C>T	not provided [RCV000953062]	benign	17	81686994	81686994	Human		name
15149690	CV731192	single nucleotide variant	NM_004712.5(HGS):c.1567-7C>T	not provided [RCV000879219]	benign	17	81696600	81696600	Human		name
15168838	CV745115	single nucleotide variant	NM_004712.5(HGS):c.1567-6G>A	not provided [RCV000904940]	likely benign	17	81696601	81696601	Human		name
15119483	CV715828	single nucleotide variant	NM_004712.5(HGS):c.891G>T (p.Ser297=)	not provided [RCV000962558]	benign	17	81693920	81693920	Human		name
156331719	CV2218207	single nucleotide variant	NM_004712.5(HGS):c.238C>T (p.His80Tyr)	not specified [RCV004088411]	uncertain significance	17	81687042	81687042	Human		name
401888012	CV2781837	single nucleotide variant	NM_004712.5(HGS):c.161A>C (p.Asn54Thr)	not specified [RCV004356789]	uncertain significance	17	81686350	81686350	Human		name
401907924	CV2818098	single nucleotide variant	NM_004712.5(HGS):c.1221G>A (p.Gln407=)	not provided [RCV003422979]	likely benign	17	81695827	81695827	Human		name
401907926	CV2818099	single nucleotide variant	NM_004712.5(HGS):c.1446G>A (p.Gly482=)	not provided [RCV003422980]	likely benign	17	81696409	81696409	Human		name
405777113	CV3270065	single nucleotide variant	NM_004712.5(HGS):c.251C>G (p.Ala84Gly)	not specified [RCV004396982]	uncertain significance	17	81687055	81687055	Human		name
15099333	CV704470	single nucleotide variant	NM_004712.5(HGS):c.1998T>A (p.Thr666=)	not provided [RCV000958746]	benign	17	81700582	81700582	Human		name
15178256	CV741209	single nucleotide variant	NM_004712.5(HGS):c.1374C>T (p.Asn458=)	not provided [RCV000906836]	benign	17	81695980	81695980	Human		name
15144130	CV756288	single nucleotide variant	NM_004712.5(HGS):c.1974C>T (p.Pro658=)	not provided [RCV000922314]	likely benign	17	81700558	81700558	Human		name
156118117	CV2346012	single nucleotide variant	NM_004712.5(HGS):c.748C>G (p.Pro250Ala)	not specified [RCV004201493]	uncertain significance	17	81693660	81693660	Human		name
401745132	CV2693187	single nucleotide variant	NM_004712.5(HGS):c.709T>C (p.Tyr237His)	not specified [RCV004293118]	uncertain significance	17	81693549	81693549	Human		name
401870717	CV2766290	single nucleotide variant	NM_004712.5(HGS):c.851C>T (p.Ser284Phe)	not specified [RCV004342546]	uncertain significance	17	81693880	81693880	Human		name
401864215	CV2767550	single nucleotide variant	NM_004712.5(HGS):c.698T>G (p.Leu233Arg)	not specified [RCV004343703]	uncertain significance	17	81693538	81693538	Human		name
401891486	CV2769178	single nucleotide variant	NM_004712.5(HGS):c.304G>T (p.Val102Leu)	not specified [RCV004349021]	uncertain significance	17	81688716	81688716	Human		name
401906631	CV2818097	single nucleotide variant	NM_004712.5(HGS):c.538C>T (p.His180Tyr)	not provided [RCV003421555]	uncertain significance	17	81691447	81691447	Human		name
405777122	CV3270066	single nucleotide variant	NM_004712.5(HGS):c.364G>A (p.Glu122Lys)	not specified [RCV004396983]	uncertain significance	17	81688776	81688776	Human		name
405777131	CV3270067	single nucleotide variant	NM_004712.5(HGS):c.713T>C (p.Leu238Pro)	not specified [RCV004396984]	uncertain significance	17	81693553	81693553	Human		name
405777137	CV3270068	single nucleotide variant	NM_004712.5(HGS):c.720C>A (p.Ser240Arg)	not specified [RCV004396985]	uncertain significance	17	81693560	81693560	Human		name
405777143	CV3270069	single nucleotide variant	NM_004712.5(HGS):c.724C>A (p.Leu242Met)	not specified [RCV004396986]	uncertain significance	17	81693564	81693564	Human		name
405777149	CV3270070	single nucleotide variant	NM_004712.5(HGS):c.731A>C (p.Gln244Pro)	not specified [RCV004396987]	uncertain significance	17	81693571	81693571	Human		name
405777162	CV3270072	single nucleotide variant	NM_004712.5(HGS):c.734A>C (p.Gln245Pro)	not specified [RCV004396989]	uncertain significance	17	81693574	81693574	Human		name
405777168	CV3270073	single nucleotide variant	NM_004712.5(HGS):c.887C>T (p.Pro296Leu)	not specified [RCV004396990]	uncertain significance	17	81693916	81693916	Human		name
405777174	CV3270074	single nucleotide variant	NM_004712.5(HGS):c.947C>T (p.Ala316Val)	not specified [RCV004396991]	uncertain significance	17	81694825	81694825	Human		name
597761514	CV3685732	single nucleotide variant	NM_004712.5(HGS):c.706G>A (p.Glu236Lys)	not specified [RCV004925923]	uncertain significance	17	81693546	81693546	Human		name
597761533	CV3685736	single nucleotide variant	NM_004712.5(HGS):c.944C>T (p.Ser315Leu)	not specified [RCV004925927]	uncertain significance	17	81694822	81694822	Human		name
597761544	CV3685739	single nucleotide variant	NM_004712.5(HGS):c.314G>A (p.Arg105His)	not specified [RCV004925930]	uncertain significance	17	81688726	81688726	Human		name
597761559	CV3685742	single nucleotide variant	NM_004712.5(HGS):c.340G>A (p.Ala114Thr)	not specified [RCV004925933]	uncertain significance	17	81688752	81688752	Human		name
597761562	CV3685743	single nucleotide variant	NM_004712.5(HGS):c.764C>T (p.Thr255Met)	not specified [RCV004925934]	uncertain significance	17	81693676	81693676	Human		name
597761565	CV3685744	single nucleotide variant	NM_004712.5(HGS):c.430G>C (p.Glu144Gln)	not specified [RCV004925935]	uncertain significance	17	81690196	81690196	Human		name
597761580	CV3685748	single nucleotide variant	NM_004712.5(HGS):c.503G>A (p.Arg168His)	not specified [RCV004925938]	uncertain significance	17	81690708	81690708	Human		name
598177435	CV3978735	single nucleotide variant	NM_004712.5(HGS):c.701C>G (p.Pro234Arg)	not specified [RCV005351833]	uncertain significance	17	81693541	81693541	Human		name
598177441	CV3978736	single nucleotide variant	NM_004712.5(HGS):c.709T>G (p.Tyr237Asp)	not specified [RCV005351834]	uncertain significance	17	81693549	81693549	Human		name
598177452	CV3978739	single nucleotide variant	NM_004712.5(HGS):c.733C>G (p.Gln245Glu)	not specified [RCV005351836]	uncertain significance	17	81693573	81693573	Human		name
15142762	CV741208	single nucleotide variant	NM_004712.5(HGS):c.739C>G (p.Gln247Glu)	not provided [RCV000899727]	likely benign	17	81693579	81693579	Human		name
156372738	CV2194576	single nucleotide variant	NM_004712.5(HGS):c.2297C>A (p.Ala766Glu)	not specified [RCV004081634]	uncertain significance	17	81701581	81701581	Human		name
156251427	CV2212334	single nucleotide variant	NM_004712.5(HGS):c.2276C>T (p.Pro759Leu)	not specified [RCV004091282]	uncertain significance	17	81701560	81701560	Human		name
155932951	CV2228771	single nucleotide variant	NM_004712.5(HGS):c.1163G>A (p.Gly388Asp)	not specified [RCV004093238]	uncertain significance	17	81695207	81695207	Human		name
155986053	CV2233952	single nucleotide variant	NM_004712.5(HGS):c.1910A>G (p.Tyr637Cys)	not specified [RCV004104295]	uncertain significance	17	81700494	81700494	Human		name
155943046	CV2244884	single nucleotide variant	NM_004712.5(HGS):c.1909T>A (p.Tyr637Asn)	not specified [RCV004104638]	uncertain significance	17	81700493	81700493	Human		name
156093072	CV2256721	single nucleotide variant	NM_004712.5(HGS):c.1789G>A (p.Gly597Ser)	not specified [RCV004118892]	uncertain significance	17	81696905	81696905	Human		name
156313957	CV2257087	single nucleotide variant	NM_004712.5(HGS):c.2191T>A (p.Tyr731Asn)	not specified [RCV004123052]	uncertain significance	17	81701099	81701099	Human		name
156034915	CV2282938	single nucleotide variant	NM_004712.5(HGS):c.1475G>A (p.Arg492Gln)	not specified [RCV004143577]	uncertain significance	17	81696438	81696438	Human		name
156085212	CV2289787	single nucleotide variant	NM_004712.5(HGS):c.1282A>G (p.Met428Val)	not specified [RCV004150468]	likely benign	17	81695888	81695888	Human		name
156012752	CV2291295	single nucleotide variant	NM_004712.5(HGS):c.1819G>A (p.Val607Met)	not specified [RCV004153572]	uncertain significance	17	81696935	81696935	Human		name
156087018	CV2299082	single nucleotide variant	NM_004712.5(HGS):c.1729G>A (p.Gly577Arg)	not specified [RCV004152445]	uncertain significance	17	81696845	81696845	Human		name
155905910	CV2303206	single nucleotide variant	NM_004712.5(HGS):c.2020G>A (p.Val674Met)	not specified [RCV004156965]	uncertain significance	17	81700698	81700698	Human		name
156035344	CV2303433	single nucleotide variant	NM_004712.5(HGS):c.1331A>G (p.Gln444Arg)	not specified [RCV004159768]	uncertain significance	17	81695937	81695937	Human		name
156198889	CV2312953	single nucleotide variant	NM_004712.5(HGS):c.1730G>T (p.Gly577Val)	not specified [RCV004159461]	uncertain significance	17	81696846	81696846	Human		name
155905068	CV2385676	single nucleotide variant	NM_004712.5(HGS):c.2198C>T (p.Ala733Val)	not specified [RCV004233304]	uncertain significance	17	81701106	81701106	Human		name
155903884	CV2386643	single nucleotide variant	NM_004712.5(HGS):c.1028G>A (p.Arg343His)	not specified [RCV004230984]	uncertain significance	17	81694976	81694976	Human		name
329383098	CV2465528	single nucleotide variant	NM_004712.5(HGS):c.1909T>C (p.Tyr637His)	not specified [RCV004281277]	uncertain significance	17	81700493	81700493	Human		name
401753154	CV2674796	single nucleotide variant	NM_004712.5(HGS):c.1142C>G (p.Ser381Cys)	not specified [RCV004294075]	uncertain significance	17	81695186	81695186	Human		name
401733694	CV2682611	single nucleotide variant	NM_004712.5(HGS):c.2192A>C (p.Tyr731Ser)	not specified [RCV004292662]	uncertain significance	17	81701100	81701100	Human		name
401721076	CV2702255	single nucleotide variant	NM_004712.5(HGS):c.1006G>A (p.Glu336Lys)	not specified [RCV004314590]	uncertain significance	17	81694954	81694954	Human		name
401859129	CV2771396	single nucleotide variant	NM_004712.5(HGS):c.1919G>T (p.Gly640Val)	not specified [RCV004348453]	uncertain significance	17	81700503	81700503	Human		name
405777108	CV3270064	single nucleotide variant	NM_004712.5(HGS):c.1346T>C (p.Met449Thr)	not specified [RCV004396981]	uncertain significance	17	81695952	81695952	Human		name
407522087	CV3437242	single nucleotide variant	NM_004712.5(HGS):c.2291C>T (p.Pro764Leu)	not specified [RCV004630551]	uncertain significance	17	81701575	81701575	Human		name
407521910	CV3437243	single nucleotide variant	NM_004712.5(HGS):c.1108A>G (p.Asn370Asp)	not specified [RCV004630552]	uncertain significance	17	81695056	81695056	Human		name
407521913	CV3437244	single nucleotide variant	NM_004712.5(HGS):c.1243G>A (p.Ala415Thr)	not specified [RCV004630553]	uncertain significance	17	81695849	81695849	Human		name
407510653	CV3437247	single nucleotide variant	NM_004712.5(HGS):c.1040C>T (p.Thr347Met)	not specified [RCV004626192]	uncertain significance	17	81694988	81694988	Human		name
407521923	CV3437248	single nucleotide variant	NM_004712.5(HGS):c.1751C>T (p.Ser584Leu)	not specified [RCV004630556]	uncertain significance	17	81696867	81696867	Human		name
597761509	CV3685731	single nucleotide variant	NM_004712.5(HGS):c.1759G>T (p.Ala587Ser)	not specified [RCV004925922]	uncertain significance	17	81696875	81696875	Human		name
597761519	CV3685733	single nucleotide variant	NM_004712.5(HGS):c.1810A>G (p.Met604Val)	not specified [RCV004925924]	uncertain significance	17	81696926	81696926	Human		name
597761524	CV3685734	single nucleotide variant	NM_004712.5(HGS):c.1928G>T (p.Gly643Val)	not specified [RCV004925925]	uncertain significance	17	81700512	81700512	Human		name
597761528	CV3685735	single nucleotide variant	NM_004712.5(HGS):c.1474C>T (p.Arg492Trp)	not specified [RCV004925926]	uncertain significance	17	81696437	81696437	Human		name
597761538	CV3685737	single nucleotide variant	NM_004712.5(HGS):c.1961C>T (p.Pro654Leu)	not specified [RCV004925928]	uncertain significance	17	81700545	81700545	Human		name
597761540	CV3685738	single nucleotide variant	NM_004712.5(HGS):c.1502A>T (p.Glu501Val)	not specified [RCV004925929]	uncertain significance	17	81696465	81696465	Human		name
597761549	CV3685740	single nucleotide variant	NM_004712.5(HGS):c.1180C>T (p.Pro394Ser)	not specified [RCV004925931]	uncertain significance	17	81695786	81695786	Human		name
597761554	CV3685741	single nucleotide variant	NM_004712.5(HGS):c.2158A>G (p.Ser720Gly)	not specified [RCV004925932]	likely benign	17	81701066	81701066	Human		name
597761570	CV3685746	single nucleotide variant	NM_004712.5(HGS):c.1730G>C (p.Gly577Ala)	not specified [RCV004925936]	uncertain significance	17	81696846	81696846	Human		name
597761575	CV3685747	single nucleotide variant	NM_004712.5(HGS):c.1825A>C (p.Met609Leu)	not specified [RCV004925937]	uncertain significance	17	81696941	81696941	Human		name
598177408	CV3978729	single nucleotide variant	NM_004712.5(HGS):c.1258G>A (p.Val420Met)	not specified [RCV005351828]	uncertain significance	17	81695864	81695864	Human		name
598177414	CV3978730	single nucleotide variant	NM_004712.5(HGS):c.1163G>T (p.Gly388Val)	not specified [RCV005351829]	uncertain significance	17	81695207	81695207	Human		name
598177419	CV3978731	single nucleotide variant	NM_004712.5(HGS):c.1433G>A (p.Arg478His)	not specified [RCV005351830]	uncertain significance	17	81696396	81696396	Human		name
598177430	CV3978734	single nucleotide variant	NM_004712.5(HGS):c.1432C>T (p.Arg478Cys)	not specified [RCV005351832]	uncertain significance	17	81696395	81696395	Human		name
598247885	CV3978737	single nucleotide variant	NM_004712.5(HGS):c.1931C>T (p.Ala644Val)	not specified [RCV005345365]	uncertain significance	17	81700515	81700515	Human		name
598177447	CV3978738	single nucleotide variant	NM_004712.5(HGS):c.1709T>A (p.Leu570His)	not specified [RCV005351835]	uncertain significance	17	81696825	81696825	Human		name
15103347	CV704468	single nucleotide variant	NM_004712.5(HGS):c.1200G>C (p.Glu400Asp)	not provided [RCV000959461]	benign	17	81695806	81695806	Human		name
15194029	CV704469	single nucleotide variant	NM_004712.5(HGS):c.1891A>G (p.Met631Val)	not provided [RCV000955534]	likely benign	17	81700475	81700475	Human		name
405273209	CV3210346	single nucleotide variant	NM_152419.3(HGSNAT):c.*8C>T	HGSNAT-related disorder [RCV003914572]	likely benign	8	43199577	43199577	Human		name , trait , alternate_id
28867957	CV899645	single nucleotide variant	NM_152419.3(HGSNAT):c.-3G>C	Mucopolysaccharidosis, MPS-III-C [RCV001162198]	uncertain significance	8	43140494	43140494	Human	1	name
11653872	CV314503	single nucleotide variant	NM_152419.2(HGSNAT):c.-37C>T	Sanfilippo syndrome [RCV000313800]	uncertain significance	8	43140460	43140460	Human	1	name
11605604	CV305411	single nucleotide variant	NM_152419.3(HGSNAT):c.*585T>C	Mucopolysaccharidosis, MPS-III-C [RCV000321329]	benign\|likely benign	8	43200154	43200154	Human	1	name
11608578	CV309258	single nucleotide variant	NM_152419.3(HGSNAT):c.*149G>T	Mucopolysaccharidosis, MPS-III-C [RCV000357005]	uncertain significance	8	43199718	43199718	Human	1	name
11644364	CV309274	single nucleotide variant	NM_152419.3(HGSNAT):c.*160C>T	Mucopolysaccharidosis, MPS-III-C [RCV000259828]	uncertain significance	8	43199729	43199729	Human	1	name
11599827	CV314531	single nucleotide variant	NM_152419.3(HGSNAT):c.*390G>A	Mucopolysaccharidosis, MPS-III-C [RCV000268623]\|not provided [RCV004696075]	uncertain significance	8	43199959	43199959	Human	1	name
11651437	CV314602	single nucleotide variant	NM_152419.3(HGSNAT):c.*196T>G	Mucopolysaccharidosis, MPS-III-C [RCV000299141]	uncertain significance	8	43199765	43199765	Human	1	name
11608872	CV314603	single nucleotide variant	NM_152419.3(HGSNAT):c.*304C>A	Mucopolysaccharidosis, MPS-III-C [RCV000360941]	uncertain significance	8	43199873	43199873	Human	1	name
14725731	CV663356	single nucleotide variant	NM_152419.2(HGSNAT):c.-174G>A	not provided [RCV000833565]	benign	8	43140323	43140323	Human		name
28872308	CV899658	single nucleotide variant	NM_152419.3(HGSNAT):c.*106G>A	Mucopolysaccharidosis, MPS-III-C [RCV001164336]	likely benign	8	43199675	43199675	Human	1	name
28907246	CV899659	single nucleotide variant	NM_152419.3(HGSNAT):c.*477G>A	Mucopolysaccharidosis, MPS-III-C [RCV001159411]	benign	8	43200046	43200046	Human	1	name
28907248	CV899660	single nucleotide variant	NM_152419.3(HGSNAT):c.*574C>G	Mucopolysaccharidosis, MPS-III-C [RCV001159412]	uncertain significance	8	43200143	43200143	Human	1	name
28907250	CV899661	single nucleotide variant	NM_152419.3(HGSNAT):c.*581T>C	Mucopolysaccharidosis, MPS-III-C [RCV001159413]	uncertain significance	8	43200150	43200150	Human	1	name
28907252	CV899662	single nucleotide variant	NM_152419.3(HGSNAT):c.*600C>T	Mucopolysaccharidosis, MPS-III-C [RCV001159414]	benign	8	43200169	43200169	Human	1	name
28907254	CV899663	single nucleotide variant	NM_152419.3(HGSNAT):c.*612A>C	Mucopolysaccharidosis, MPS-III-C [RCV001159415]	uncertain significance	8	43200181	43200181	Human	1	name
28907256	CV899664	single nucleotide variant	NM_152419.3(HGSNAT):c.*619T>C	Mucopolysaccharidosis, MPS-III-C [RCV001159416]	uncertain significance	8	43200188	43200188	Human	1	name
28907258	CV899665	single nucleotide variant	NM_152419.3(HGSNAT):c.*649A>G	Mucopolysaccharidosis, MPS-III-C [RCV001159417]	uncertain significance	8	43200218	43200218	Human	1	name
28909660	CV899666	single nucleotide variant	NM_152419.3(HGSNAT):c.*733G>T	Mucopolysaccharidosis, MPS-III-C [RCV001160785]	benign	8	43200302	43200302	Human	1	name
28909663	CV899667	single nucleotide variant	NM_152419.3(HGSNAT):c.*772C>G	Mucopolysaccharidosis, MPS-III-C [RCV001160786]	uncertain significance	8	43200341	43200341	Human	1	name
28909666	CV899668	single nucleotide variant	NM_152419.3(HGSNAT):c.*778T>C	Mucopolysaccharidosis, MPS-III-C [RCV001160787]	uncertain significance	8	43200347	43200347	Human	1	name
28909669	CV899669	single nucleotide variant	NM_152419.3(HGSNAT):c.*817C>T	Mucopolysaccharidosis, MPS-III-C [RCV001160788]\|not provided [RCV004707566]	likely benign	8	43200386	43200386	Human	1	name
28909671	CV899670	single nucleotide variant	NM_152419.3(HGSNAT):c.*851A>G	Mucopolysaccharidosis, MPS-III-C [RCV001160789]	uncertain significance	8	43200420	43200420	Human	1	name
28909674	CV899671	single nucleotide variant	NM_152419.3(HGSNAT):c.*857C>T	Mucopolysaccharidosis, MPS-III-C [RCV001160790]	uncertain significance	8	43200426	43200426	Human	1	name
28909677	CV899672	single nucleotide variant	NM_152419.3(HGSNAT):c.*871C>A	Mucopolysaccharidosis, MPS-III-C [RCV001160791]	uncertain significance	8	43200440	43200440	Human	1	name
127256191	CV1055732	single nucleotide variant	NM_152419.3(HGSNAT):c.563+2T>A	Mucopolysaccharidosis, MPS-III-C [RCV001379518]	likely pathogenic	8	43161509	43161509	Human	1	name
127280944	CV1075398	single nucleotide variant	NM_152419.3(HGSNAT):c.494-4C>A	Mucopolysaccharidosis, MPS-III-C [RCV001410132]	likely benign	8	43161434	43161434	Human	1	name
127272035	CV1075400	single nucleotide variant	NM_152419.3(HGSNAT):c.563+7T>C	Mucopolysaccharidosis, MPS-III-C [RCV001405571]	likely benign	8	43161514	43161514	Human	1	name
127252342	CV1075401	single nucleotide variant	NM_152419.3(HGSNAT):c.563+8A>G	Mucopolysaccharidosis, MPS-III-C [RCV001418055]	likely benign	8	43161515	43161515	Human	1	name
127252814	CV1075402	single nucleotide variant	NM_152419.3(HGSNAT):c.564-8A>G	Mucopolysaccharidosis, MPS-III-C [RCV001418158]	likely benign	8	43169165	43169165	Human	1	name
127281697	CV1075405	single nucleotide variant	NM_152419.3(HGSNAT):c.743+7G>A	Mucopolysaccharidosis, MPS-III-C [RCV001410644]	likely benign	8	43170701	43170701	Human	1	name
127245301	CV1075407	single nucleotide variant	NM_152419.3(HGSNAT):c.852-7T>G	Mucopolysaccharidosis, MPS-III-C [RCV001398701]	likely benign	8	43178067	43178067	Human	1	name
127255664	CV1097073	single nucleotide variant	NM_152419.3(HGSNAT):c.634-8T>A	Mucopolysaccharidosis, MPS-III-C [RCV001437500]	likely benign	8	43170577	43170577	Human	1	name
127276690	CV1097076	single nucleotide variant	NM_152419.3(HGSNAT):c.851+9C>T	Mucopolysaccharidosis, MPS-III-C [RCV001432928]	likely benign	8	43173752	43173752	Human	1	name
127324917	CV1118621	single nucleotide variant	NM_152419.3(HGSNAT):c.372-8G>A	Mucopolysaccharidosis, MPS-III-C [RCV001468311]	likely benign	8	43158915	43158915	Human	1	name
127324846	CV1118625	single nucleotide variant	NM_152419.3(HGSNAT):c.821-9G>T	Mucopolysaccharidosis, MPS-III-C [RCV001468293]	likely benign	8	43173704	43173704	Human	1	name
127326934	CV1139496	single nucleotide variant	NM_152419.3(HGSNAT):c.118+8C>G	Mucopolysaccharidosis, MPS-III-C [RCV001506436]	likely benign	8	43140622	43140622	Human	1	name
127310048	CV1155970	duplication	NM_152419.3(HGSNAT):c.564-4dup	Mucopolysaccharidosis, MPS-III-C [RCV001518121]	benign	8	43169165	43169166	Human	1	name
150447261	CV1274415	single nucleotide variant	NM_152419.3(HGSNAT):c.493+5G>A	Mucopolysaccharidosis, MPS-III-C [RCV002538631]\|Retinitis pigmentosa 73 [RCV003323916]\|not provided [RCV001699670]	likely pathogenic\|uncertain significance	8	43159049	43159049	Human	2	name
151809183	CV1338660	single nucleotide variant	NM_152419.3(HGSNAT):c.743+4T>C	Mucopolysaccharidosis, MPS-III-C [RCV002012266]	uncertain significance	8	43170698	43170698	Human	1	name
151821178	CV1388878	single nucleotide variant	NM_152419.3(HGSNAT):c.493+4C>T	Mucopolysaccharidosis, MPS-III-C [RCV001975744]\|Retinal dystrophy [RCV004816858]	uncertain significance	8	43159048	43159048	Human	3	name
151887608	CV1472031	single nucleotide variant	NM_152419.3(HGSNAT):c.118+2T>C	Mucopolysaccharidosis, MPS-III-C [RCV002000919]	likely pathogenic	8	43140616	43140616	Human	1	name
151728481	CV1515730	single nucleotide variant	NM_152419.3(HGSNAT):c.118+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV001983953]	likely pathogenic	8	43140615	43140615	Human	1	name
152051556	CV1528020	single nucleotide variant	NM_152419.3(HGSNAT):c.235-4A>G	Mucopolysaccharidosis, MPS-III-C [RCV002089224]	likely benign	8	43158571	43158571	Human	1	name
152161172	CV1531022	single nucleotide variant	NM_152419.3(HGSNAT):c.633+9T>C	Mucopolysaccharidosis, MPS-III-C [RCV002123220]	likely benign	8	43169251	43169251	Human	1	name
152096116	CV1559781	single nucleotide variant	NM_152419.3(HGSNAT):c.118+8C>T	Mucopolysaccharidosis, MPS-III-C [RCV002213379]	likely benign	8	43140622	43140622	Human	1	name
152045080	CV1590642	single nucleotide variant	NM_152419.3(HGSNAT):c.851+7T>G	Mucopolysaccharidosis, MPS-III-C [RCV002108248]	likely benign	8	43173750	43173750	Human	1	name
152101478	CV1606885	single nucleotide variant	NM_152419.3(HGSNAT):c.119-9T>C	Mucopolysaccharidosis, MPS-III-C [RCV002195605]	likely benign	8	43146939	43146939	Human	1	name
152149348	CV1616784	single nucleotide variant	NM_152419.3(HGSNAT):c.371+9C>T	Mucopolysaccharidosis, MPS-III-C [RCV002201727]	likely benign	8	43158720	43158720	Human	1	name
152070322	CV1622819	single nucleotide variant	NM_152419.3(HGSNAT):c.119-5A>G	Mucopolysaccharidosis, MPS-III-C [RCV002209892]	likely benign	8	43146943	43146943	Human	1	name
8595349	CV16269	single nucleotide variant	NM_152419.3(HGSNAT):c.493+1G>A	Inborn genetic diseases [RCV002512639]\|Mucopolysaccharidosis, MPS-III-C [RCV000001289]\|Mucopolysaccharidosis, MPS-III-C [RCV000763183]\|Sanfilippo syndrome [RCV000780343]\|not provided [RCV005414443]	pathogenic	8	43159045	43159045	Human	3	name
8595354	CV16275	single nucleotide variant	NM_152419.3(HGSNAT):c.372-2A>G	Mucopolysaccharidosis, MPS-III-C [RCV000001295]\|Mucopolysaccharidosis, MPS-III-C [RCV001067306]\|Sanfilippo syndrome [RCV000586364]\|not provided [RCV005429210]	pathogenic	8	43158921	43158921	Human	2	name
152031615	CV1629196	single nucleotide variant	NM_152419.3(HGSNAT):c.564-4T>G	Mucopolysaccharidosis, MPS-III-C [RCV002106200]	likely benign	8	43169169	43169169	Human	1	name
152176486	CV1631423	single nucleotide variant	NM_152419.3(HGSNAT):c.821-4G>T	Mucopolysaccharidosis, MPS-III-C [RCV002164631]	likely benign	8	43173709	43173709	Human	1	name
152157925	CV1639463	single nucleotide variant	NM_152419.3(HGSNAT):c.118+7G>A	Mucopolysaccharidosis, MPS-III-C [RCV002180404]	likely benign	8	43140621	43140621	Human	1	name
152057543	CV1651832	single nucleotide variant	NM_152419.3(HGSNAT):c.744-4C>G	Mucopolysaccharidosis, MPS-III-C [RCV002190143]	likely benign	8	43172306	43172306	Human	1	name
152147918	CV1653814	single nucleotide variant	NM_152419.3(HGSNAT):c.371+8C>T	Mucopolysaccharidosis, MPS-III-C [RCV002139081]	likely benign	8	43158719	43158719	Human	1	name
152170271	CV1663200	single nucleotide variant	NM_152419.3(HGSNAT):c.821-9G>A	Mucopolysaccharidosis, MPS-III-C [RCV002183095]	likely benign	8	43173704	43173704	Human	1	name
156353805	CV1880013	single nucleotide variant	NM_152419.3(HGSNAT):c.820+6A>G	Mucopolysaccharidosis, MPS-III-C [RCV003065076]	uncertain significance	8	43172392	43172392	Human	1	name
156441863	CV1941516	single nucleotide variant	NM_152419.3(HGSNAT):c.494-1G>A	Mucopolysaccharidosis, MPS-III-C [RCV003112196]	pathogenic	8	43161437	43161437	Human	1	name
155944537	CV2003087	single nucleotide variant	NM_152419.3(HGSNAT):c.744-2A>C	Mucopolysaccharidosis, MPS-III-C [RCV002685668]	likely pathogenic	8	43172308	43172308	Human	1	name
156134452	CV2047986	single nucleotide variant	NM_152419.3(HGSNAT):c.234+5G>A	Mucopolysaccharidosis, MPS-III-C [RCV002800733]	uncertain significance	8	43147068	43147068	Human	1	name
155936651	CV2058055	single nucleotide variant	NM_152419.3(HGSNAT):c.634-2A>G	Mucopolysaccharidosis, MPS-III-C [RCV002815418]	likely pathogenic	8	43170583	43170583	Human	1	name
155927229	CV2070900	single nucleotide variant	NM_152419.3(HGSNAT):c.563+1G>C	Mucopolysaccharidosis, MPS-III-C [RCV002838585]	likely pathogenic	8	43161508	43161508	Human	1	name
156105872	CV2089057	single nucleotide variant	NM_152419.3(HGSNAT):c.494-2A>G	Mucopolysaccharidosis, MPS-III-C [RCV002848255]	pathogenic\|likely pathogenic	8	43161436	43161436	Human	1	name
156126266	CV2100550	single nucleotide variant	NM_152419.3(HGSNAT):c.494-8T>A	Mucopolysaccharidosis, MPS-III-C [RCV002889764]	likely benign	8	43161430	43161430	Human	1	name
156100603	CV2107349	single nucleotide variant	NM_152419.3(HGSNAT):c.493+4C>G	Mucopolysaccharidosis, MPS-III-C [RCV002927037]\|not specified [RCV005059079]	uncertain significance	8	43159048	43159048	Human	1	name
156033245	CV2152710	single nucleotide variant	NM_152419.3(HGSNAT):c.118+9A>C	Mucopolysaccharidosis, MPS-III-C [RCV003018764]	likely benign	8	43140623	43140623	Human	1	name
156324464	CV2163308	single nucleotide variant	NM_152419.3(HGSNAT):c.564-1G>A	Mucopolysaccharidosis, MPS-III-C [RCV003029396]	likely pathogenic	8	43169172	43169172	Human	1	name
156335352	CV2168338	single nucleotide variant	NM_152419.3(HGSNAT):c.563+9T>C	Mucopolysaccharidosis, MPS-III-C [RCV003029992]	likely benign	8	43161516	43161516	Human	1	name
11610430	CV305416	single nucleotide variant	NM_152419.3(HGSNAT):c.*1137C>T	Mucopolysaccharidosis, MPS-III-C [RCV000381686]	uncertain significance	8	43200706	43200706	Human	1	name
11611876	CV305417	single nucleotide variant	NM_152419.3(HGSNAT):c.*1251C>A	Mucopolysaccharidosis, MPS-III-C [RCV000400470]	uncertain significance	8	43200820	43200820	Human	1	name
11656691	CV305418	single nucleotide variant	NM_152419.3(HGSNAT):c.*1378C>T	Mucopolysaccharidosis, MPS-III-C [RCV000335655]	uncertain significance	8	43200947	43200947	Human	1	name
11611208	CV305420	single nucleotide variant	NM_152419.3(HGSNAT):c.*1801T>C	Mucopolysaccharidosis, MPS-III-C [RCV000391978]\|not provided [RCV004712593]	benign	8	43201370	43201370	Human	1	name
11605113	CV305421	single nucleotide variant	NM_152419.3(HGSNAT):c.*2643G>A	Mucopolysaccharidosis, MPS-III-C [RCV000315957]	uncertain significance	8	43202212	43202212	Human	1	name
405024311	CV3082019	single nucleotide variant	NM_152419.3(HGSNAT):c.821-9G>C	Mucopolysaccharidosis, MPS-III-C [RCV003785625]	likely benign	8	43173704	43173704	Human	1	name
11646595	CV309279	single nucleotide variant	NM_152419.3(HGSNAT):c.*1064A>G	Mucopolysaccharidosis, MPS-III-C [RCV000271912]	uncertain significance	8	43200633	43200633	Human	1	name
11602879	CV309289	single nucleotide variant	NM_152419.3(HGSNAT):c.*1204C>A	Mucopolysaccharidosis, MPS-III-C [RCV000294628]	uncertain significance	8	43200773	43200773	Human	1	name
11600930	CV309290	single nucleotide variant	NM_152419.3(HGSNAT):c.*1331T>A	Mucopolysaccharidosis, MPS-III-C [RCV000278297]	uncertain significance	8	43200900	43200900	Human	1	name
11652486	CV309301	single nucleotide variant	NM_152419.3(HGSNAT):c.*1750C>T	Mucopolysaccharidosis, MPS-III-C [RCV000305431]	uncertain significance	8	43201319	43201319	Human	1	name
11608622	CV309302	single nucleotide variant	NM_152419.3(HGSNAT):c.*1780C>T	Mucopolysaccharidosis, MPS-III-C [RCV000357878]\|not provided [RCV004712592]	benign\|likely benign	8	43201349	43201349	Human	1	name
11601114	CV309314	single nucleotide variant	NM_152419.3(HGSNAT):c.*2502A>G	Mucopolysaccharidosis, MPS-III-C [RCV000279544]	uncertain significance	8	43202071	43202071	Human	1	name
404984233	CV3096433	single nucleotide variant	NM_152419.3(HGSNAT):c.820+7T>C	Mucopolysaccharidosis, MPS-III-C [RCV003791982]	likely benign	8	43172393	43172393	Human	1	name
404988752	CV3097116	single nucleotide variant	NM_152419.3(HGSNAT):c.372-9T>C	Mucopolysaccharidosis, MPS-III-C [RCV003792505]	likely benign	8	43158914	43158914	Human	1	name
405029134	CV3098221	single nucleotide variant	NM_152419.3(HGSNAT):c.118+7G>C	Mucopolysaccharidosis, MPS-III-C [RCV003806514]	likely benign	8	43140621	43140621	Human	1	name
405032064	CV3098627	single nucleotide variant	NM_152419.3(HGSNAT):c.744-6T>C	Mucopolysaccharidosis, MPS-III-C [RCV003806751]	likely benign	8	43172304	43172304	Human	1	name
405096251	CV3105701	single nucleotide variant	NM_152419.3(HGSNAT):c.852-8C>G	Mucopolysaccharidosis, MPS-III-C [RCV003801418]	likely benign	8	43178066	43178066	Human	1	name
405008964	CV3109023	single nucleotide variant	NM_152419.3(HGSNAT):c.493+1G>C	Mucopolysaccharidosis, MPS-III-C [RCV003804690]	pathogenic	8	43159045	43159045	Human	1	name
405111180	CV3110762	deletion	NM_152419.3(HGSNAT):c.821-5del	Mucopolysaccharidosis, MPS-III-C [RCV003813665]	likely benign	8	43173708	43173708	Human	1	name
405127412	CV3112054	single nucleotide variant	NM_152419.3(HGSNAT):c.820+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV003815528]	likely pathogenic	8	43172387	43172387	Human	1	name
405128182	CV3112141	single nucleotide variant	NM_152419.3(HGSNAT):c.371+5G>T	Mucopolysaccharidosis, MPS-III-C [RCV003815615]	uncertain significance	8	43158716	43158716	Human	1	name
405106870	CV3113685	single nucleotide variant	NM_152419.3(HGSNAT):c.372-4G>T	Mucopolysaccharidosis, MPS-III-C [RCV003812807]	likely benign	8	43158919	43158919	Human	1	name
405080405	CV3114809	single nucleotide variant	NM_152419.3(HGSNAT):c.852-2A>G	Mucopolysaccharidosis, MPS-III-C [RCV003810372]	pathogenic	8	43178072	43178072	Human	1	name
11606573	CV314533	single nucleotide variant	NM_152419.3(HGSNAT):c.*1212C>T	Mucopolysaccharidosis, MPS-III-C [RCV000333217]	benign\|likely benign	8	43200781	43200781	Human	1	name
11602752	CV314535	single nucleotide variant	NM_152419.3(HGSNAT):c.*1216G>A	Mucopolysaccharidosis, MPS-III-C [RCV000293369]\|not provided [RCV004712590]	benign\|likely benign	8	43200785	43200785	Human	1	name
11606882	CV314536	single nucleotide variant	NM_152419.3(HGSNAT):c.*1231G>A	Mucopolysaccharidosis, MPS-III-C [RCV000336841]\|not provided [RCV004712591]	benign\|likely benign	8	43200800	43200800	Human	1	name
11611759	CV314537	single nucleotide variant	NM_152419.3(HGSNAT):c.*1436A>G	Mucopolysaccharidosis, MPS-III-C [RCV000399558]	uncertain significance	8	43201005	43201005	Human	1	name
11652935	CV314539	single nucleotide variant	NM_152419.3(HGSNAT):c.*1841G>A	Mucopolysaccharidosis, MPS-III-C [RCV000308131]	uncertain significance	8	43201410	43201410	Human	1	name
11609467	CV314542	single nucleotide variant	NM_152419.3(HGSNAT):c.*2258A>G	Mucopolysaccharidosis, MPS-III-C [RCV000368442]	likely benign\|uncertain significance	8	43201827	43201827	Human	1	name
11600448	CV314548	single nucleotide variant	NM_152419.3(HGSNAT):c.*2266G>T	Mucopolysaccharidosis, MPS-III-C [RCV000273779]	uncertain significance	8	43201835	43201835	Human	1	name
11610957	CV314554	single nucleotide variant	NM_152419.3(HGSNAT):c.*2341G>A	Mucopolysaccharidosis, MPS-III-C [RCV000388118]	uncertain significance	8	43201910	43201910	Human	1	name
11648215	CV314555	single nucleotide variant	NM_152419.3(HGSNAT):c.*2801C>G	Mucopolysaccharidosis, MPS-III-C [RCV000280853]	uncertain significance	8	43202370	43202370	Human	1	name
11657274	CV314556	duplication	NM_152419.3(HGSNAT):c.*3044dup	Sanfilippo syndrome [RCV000340219]	uncertain significance	8	43202604	43202605	Human	1	name
11649240	CV314558	single nucleotide variant	NM_152419.3(HGSNAT):c.*3241A>G	Mucopolysaccharidosis, MPS-III-C [RCV000286284]	uncertain significance	8	43202810	43202810	Human	1	name
11661588	CV314605	single nucleotide variant	NM_152419.3(HGSNAT):c.*1034G>A	Mucopolysaccharidosis, MPS-III-C [RCV000378131]	uncertain significance	8	43200603	43200603	Human	1	name
11610701	CV314606	single nucleotide variant	NM_152419.3(HGSNAT):c.*1215C>T	Mucopolysaccharidosis, MPS-III-C [RCV000385352]	uncertain significance	8	43200784	43200784	Human	1	name
11609000	CV314610	single nucleotide variant	NM_152419.3(HGSNAT):c.*1854C>T	Mucopolysaccharidosis, MPS-III-C [RCV000362781]	uncertain significance	8	43201423	43201423	Human	1	name
11600286	CV314611	single nucleotide variant	NM_152419.3(HGSNAT):c.*2068A>G	Mucopolysaccharidosis, MPS-III-C [RCV000272755]	uncertain significance	8	43201637	43201637	Human	1	name
11606147	CV314612	single nucleotide variant	NM_152419.3(HGSNAT):c.*2233G>A	Mucopolysaccharidosis, MPS-III-C [RCV000327885]	uncertain significance	8	43201802	43201802	Human	1	name
11656435	CV314614	single nucleotide variant	NM_152419.3(HGSNAT):c.*2305A>G	Mucopolysaccharidosis, MPS-III-C [RCV000333664]	uncertain significance	8	43201874	43201874	Human	1	name
11609966	CV314623	single nucleotide variant	NM_152419.3(HGSNAT):c.*2756G>A	Mucopolysaccharidosis, MPS-III-C [RCV000375262]	uncertain significance	8	43202325	43202325	Human	1	name
11611066	CV314625	single nucleotide variant	NM_152419.3(HGSNAT):c.*3213T>A	Mucopolysaccharidosis, MPS-III-C [RCV000390163]\|not provided [RCV004705467]	likely benign\|uncertain significance	8	43202782	43202782	Human	1	name
597652469	CV3722781	single nucleotide variant	NM_152419.3(HGSNAT):c.119-2A>C	Mucopolysaccharidosis, MPS-III-C [RCV005041221]	likely pathogenic	8	43146946	43146946	Human	1	name
597870105	CV3866248	single nucleotide variant	NM_152419.3(HGSNAT):c.372-7T>C	Mucopolysaccharidosis, MPS-III-C [RCV005215589]	likely benign	8	43158916	43158916	Human	1	name
597851376	CV3873385	single nucleotide variant	NM_152419.3(HGSNAT):c.494-7T>C	Mucopolysaccharidosis, MPS-III-C [RCV005212828]	likely benign	8	43161431	43161431	Human	1	name
597930527	CV3879333	single nucleotide variant	NM_152419.3(HGSNAT):c.371+5G>A	Mucopolysaccharidosis, MPS-III-C [RCV005224830]	uncertain significance	8	43158716	43158716	Human	1	name
598123027	CV3884665	deletion	NM_152419.3(HGSNAT):c.-5_-4del	not specified [RCV005238271]	uncertain significance	8	43140491	43140492	Human		name
8602335	CV39789	single nucleotide variant	NM_152419.3(HGSNAT):c.234+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV000023817]\|Mucopolysaccharidosis, MPS-III-C [RCV000652843]\|Retinal dystrophy [RCV001074236]\|Sanfilippo syndrome [RCV001192638]\|not provided [RCV000153361]	pathogenic	8	43147064	43147064	Human	4	name
13521231	CV495386	single nucleotide variant	NM_152419.3(HGSNAT):c.852-2A>C	Mucopolysaccharidosis, MPS-III-C [RCV000669939]\|Mucopolysaccharidosis, MPS-III-C [RCV001041537]\|not provided [RCV000599289]	pathogenic\|likely pathogenic	8	43178072	43178072	Human	1	name
13704748	CV539012	single nucleotide variant	NM_152419.3(HGSNAT):c.235-9T>G	Mucopolysaccharidosis, MPS-III-C [RCV000661918]\|Mucopolysaccharidosis, MPS-III-C [RCV001470454]\|Retinitis pigmentosa 73 [RCV000661919]	likely benign\|uncertain significance	8	43158566	43158566	Human	2	name
13789616	CV544421	deletion	NM_152419.3(HGSNAT):c.743+1del	Mucopolysaccharidosis, MPS-III-C [RCV000674597]	likely pathogenic	8	43170691	43170691	Human	1	name
13791489	CV544734	single nucleotide variant	NM_152419.3(HGSNAT):c.851+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV000667514]	likely pathogenic	8	43173744	43173744	Human	1	name
13784449	CV544774	single nucleotide variant	NM_152419.3(HGSNAT):c.744-2A>G	Mucopolysaccharidosis, MPS-III-C [RCV000670844]	pathogenic\|likely pathogenic	8	43172308	43172308	Human	1	name
13786051	CV544779	single nucleotide variant	NM_152419.3(HGSNAT):c.852-1G>A	Mucopolysaccharidosis, MPS-III-C [RCV000672518]\|Mucopolysaccharidosis, MPS-III-C [RCV001383039]	pathogenic	8	43178073	43178073	Human	1	name
13787086	CV544826	single nucleotide variant	NM_152419.3(HGSNAT):c.851+1G>T	Mucopolysaccharidosis, MPS-III-C [RCV000673270]	likely pathogenic	8	43173744	43173744	Human	1	name
15105581	CV787737	single nucleotide variant	NM_152419.3(HGSNAT):c.234+8T>A	Mucopolysaccharidosis, MPS-III-C [RCV000976464]	likely benign	8	43147071	43147071	Human	1	name
26909577	CV857232	single nucleotide variant	NM_152419.3(HGSNAT):c.118+5G>A	Mucopolysaccharidosis, MPS-III-C [RCV002557896]\|Retinal dystrophy [RCV001073674]	likely pathogenic\|uncertain significance	8	43140619	43140619	Human	3	name
28909679	CV899673	single nucleotide variant	NM_152419.3(HGSNAT):c.*1026G>C	Mucopolysaccharidosis, MPS-III-C [RCV001160792]	uncertain significance	8	43200595	43200595	Human	1	name
28868301	CV899674	single nucleotide variant	NM_152419.3(HGSNAT):c.*1086G>C	Mucopolysaccharidosis, MPS-III-C [RCV001162406]	benign	8	43200655	43200655	Human	1	name
28868303	CV899675	single nucleotide variant	NM_152419.3(HGSNAT):c.*1112C>T	Mucopolysaccharidosis, MPS-III-C [RCV001162407]	uncertain significance	8	43200681	43200681	Human	1	name
28868305	CV899676	single nucleotide variant	NM_152419.3(HGSNAT):c.*1214C>A	Mucopolysaccharidosis, MPS-III-C [RCV001162408]	uncertain significance	8	43200783	43200783	Human	1	name
28872563	CV899677	single nucleotide variant	NM_152419.3(HGSNAT):c.*1219G>A	Mucopolysaccharidosis, MPS-III-C [RCV001164456]	uncertain significance	8	43200788	43200788	Human	1	name
28907423	CV899678	single nucleotide variant	NM_152419.3(HGSNAT):c.*1584A>G	Mucopolysaccharidosis, MPS-III-C [RCV001159522]	uncertain significance	8	43201153	43201153	Human	1	name
28907426	CV899679	single nucleotide variant	NM_152419.3(HGSNAT):c.*1696T>G	Mucopolysaccharidosis, MPS-III-C [RCV001159523]	uncertain significance	8	43201265	43201265	Human	1	name
28909819	CV899680	single nucleotide variant	NM_152419.3(HGSNAT):c.*1925A>G	Mucopolysaccharidosis, MPS-III-C [RCV001160902]	uncertain significance	8	43201494	43201494	Human	1	name
28909821	CV899681	single nucleotide variant	NM_152419.3(HGSNAT):c.*1942A>G	Mucopolysaccharidosis, MPS-III-C [RCV001160903]	benign	8	43201511	43201511	Human	1	name
28868465	CV899682	single nucleotide variant	NM_152419.3(HGSNAT):c.*2434G>A	Mucopolysaccharidosis, MPS-III-C [RCV001162510]	uncertain significance	8	43202003	43202003	Human	1	name
28868468	CV899683	single nucleotide variant	NM_152419.3(HGSNAT):c.*2472G>C	Mucopolysaccharidosis, MPS-III-C [RCV001162511]	uncertain significance	8	43202041	43202041	Human	1	name
28868470	CV899684	single nucleotide variant	NM_152419.3(HGSNAT):c.*2538A>G	Mucopolysaccharidosis, MPS-III-C [RCV001162512]	uncertain significance	8	43202107	43202107	Human	1	name
28868473	CV899685	single nucleotide variant	NM_152419.3(HGSNAT):c.*2591G>A	Mucopolysaccharidosis, MPS-III-C [RCV001162513]	uncertain significance	8	43202160	43202160	Human	1	name
28868474	CV899686	single nucleotide variant	NM_152419.3(HGSNAT):c.*2620A>C	Mucopolysaccharidosis, MPS-III-C [RCV001162514]	uncertain significance	8	43202189	43202189	Human	1	name
28868476	CV899687	single nucleotide variant	NM_152419.3(HGSNAT):c.*2740C>T	Mucopolysaccharidosis, MPS-III-C [RCV001162515]	likely benign	8	43202309	43202309	Human	1	name
28872740	CV899688	single nucleotide variant	NM_152419.3(HGSNAT):c.*2755C>T	Mucopolysaccharidosis, MPS-III-C [RCV001164549]	benign	8	43202324	43202324	Human	1	name
28872744	CV899689	single nucleotide variant	NM_152419.3(HGSNAT):c.*2767C>T	Mucopolysaccharidosis, MPS-III-C [RCV001164550]	likely benign	8	43202336	43202336	Human	1	name
28872745	CV899690	single nucleotide variant	NM_152419.3(HGSNAT):c.*2802C>G	Mucopolysaccharidosis, MPS-III-C [RCV001164551]	likely benign	8	43202371	43202371	Human	1	name
28872747	CV899691	single nucleotide variant	NM_152419.3(HGSNAT):c.*2806G>C	Mucopolysaccharidosis, MPS-III-C [RCV001164552]	uncertain significance	8	43202375	43202375	Human	1	name
28872751	CV899692	single nucleotide variant	NM_152419.3(HGSNAT):c.*2950A>G	Mucopolysaccharidosis, MPS-III-C [RCV001164553]	uncertain significance	8	43202519	43202519	Human	1	name
28872753	CV899693	single nucleotide variant	NM_152419.3(HGSNAT):c.*2967C>T	Mucopolysaccharidosis, MPS-III-C [RCV001164554]	uncertain significance	8	43202536	43202536	Human	1	name
28907593	CV899694	single nucleotide variant	NM_152419.3(HGSNAT):c.*3086C>T	Mucopolysaccharidosis, MPS-III-C [RCV001159633]	uncertain significance	8	43202655	43202655	Human	1	name
28907595	CV899695	single nucleotide variant	NM_152419.3(HGSNAT):c.*3176G>A	Mucopolysaccharidosis, MPS-III-C [RCV001159634]	uncertain significance	8	43202745	43202745	Human	1	name
28907598	CV899696	single nucleotide variant	NM_152419.3(HGSNAT):c.*3198G>A	Mucopolysaccharidosis, MPS-III-C [RCV001159635]	uncertain significance	8	43202767	43202767	Human	1	name
28872066	CV900502	single nucleotide variant	NM_152419.3(HGSNAT):c.563+3A>G	Mucopolysaccharidosis, MPS-III-C [RCV001164229]	uncertain significance	8	43161510	43161510	Human	1	name
8643411	CV102394	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV000668206]\|Mucopolysaccharidosis, MPS-III-C [RCV001065437]\|Retinal dystrophy [RCV001074721]\|Retinitis pigmentosa 73 [RCV002288581]\|Sanfilippo syndrome [RCV001192639]\|not provided [RCV000082652]	pathogenic\|likely pathogenic	8	43191596	43191596	Human	5	name
8643413	CV102396	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV000671662]\|Mucopolysaccharidosis, MPS-III-C [RCV001221115]\|not provided [RCV000082654]	pathogenic\|likely pathogenic	8	43193844	43193844	Human	1	name
127278626	CV1075406	single nucleotide variant	NM_152419.3(HGSNAT):c.744-10C>A	Mucopolysaccharidosis, MPS-III-C [RCV001408563]	likely benign	8	43172300	43172300	Human	1	name
127273900	CV1075411	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+7G>C	Mucopolysaccharidosis, MPS-III-C [RCV001406190]	likely benign	8	43192437	43192437	Human	1	name
127233368	CV1075414	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+9T>A	Mucopolysaccharidosis, MPS-III-C [RCV001413844]	likely benign	8	43193852	43193852	Human	1	name
127231183	CV1075416	single nucleotide variant	NM_152419.3(HGSNAT):c.1613+8T>C	Mucopolysaccharidosis, MPS-III-C [RCV001412937]	likely benign	8	43197750	43197750	Human	1	name
127264154	CV1097064	single nucleotide variant	NM_152419.3(HGSNAT):c.118+10C>A	Mucopolysaccharidosis, MPS-III-C [RCV001439558]	likely benign	8	43140624	43140624	Human	1	name
127264439	CV1097078	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-7C>T	Mucopolysaccharidosis, MPS-III-C [RCV001439634]	likely benign	8	43191467	43191467	Human	1	name
127261526	CV1097086	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-5T>C	Mucopolysaccharidosis, MPS-III-C [RCV001428076]	likely benign	8	43196943	43196943	Human	1	name
127281040	CV1097087	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-6T>C	Mucopolysaccharidosis, MPS-III-C [RCV001446861]	likely benign	8	43197834	43197834	Human	1	name
127302219	CV1118629	single nucleotide variant	NM_152419.3(HGSNAT):c.1013-4G>A	Mucopolysaccharidosis, MPS-III-C [RCV001461571]	likely benign	8	43182141	43182141	Human	1	name
127334029	CV1118635	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-7A>G	Mucopolysaccharidosis, MPS-III-C [RCV001473327]	likely benign	8	43197665	43197665	Human	1	name
127331840	CV1139500	single nucleotide variant	NM_152419.3(HGSNAT):c.564-10T>A	Mucopolysaccharidosis, MPS-III-C [RCV001489088]	likely benign	8	43169163	43169163	Human	1	name
127326412	CV1139501	single nucleotide variant	NM_152419.3(HGSNAT):c.633+20G>C	Mucopolysaccharidosis, MPS-III-C [RCV001506287]	likely benign	8	43169262	43169262	Human	1	name
127307266	CV1155969	single nucleotide variant	NM_152419.3(HGSNAT):c.493+13T>A	Mucopolysaccharidosis, MPS-III-C [RCV001517023]	benign	8	43159057	43159057	Human	1	name
150337687	CV1166525	single nucleotide variant	NM_152419.3(HGSNAT):c.371+82C>T	Mucopolysaccharidosis, MPS-III-C [RCV001532798]\|Retinitis pigmentosa 73 [RCV001532799]\|not provided [RCV001676030]	benign	8	43158793	43158793	Human	2	name
150411000	CV1190781	single nucleotide variant	NM_152419.3(HGSNAT):c.118+32G>C	not provided [RCV001566340]	likely benign	8	43140646	43140646	Human		name
150439610	CV1221330	single nucleotide variant	NM_152419.3(HGSNAT):c.235-75G>A	not provided [RCV001610025]	benign	8	43158500	43158500	Human		name
150431558	CV1235486	single nucleotide variant	NM_152419.3(HGSNAT):c.563+50C>T	not provided [RCV001641856]	benign	8	43161557	43161557	Human		name
150442051	CV1246829	single nucleotide variant	NM_152419.3(HGSNAT):c.118+54C>T	not provided [RCV001666483]	benign	8	43140668	43140668	Human		name
150511933	CV1284820	deletion	NM_152419.3(HGSNAT):c.119-23del	not provided [RCV001721689]	benign	8	43146910	43146910	Human		name
150544439	CV1313343	single nucleotide variant	NM_152419.3(HGSNAT):c.1542+2T>C	not provided [RCV001783420]	pathogenic	8	43197027	43197027	Human		name
151790607	CV1397283	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+6C>T	Mucopolysaccharidosis, MPS-III-C [RCV001952011]	uncertain significance	8	43191601	43191601	Human	1	name
151841564	CV1428739	deletion	NM_152419.3(HGSNAT):c.1464+1del	Mucopolysaccharidosis, MPS-III-C [RCV001994815]	pathogenic	8	43193843	43193843	Human	1	name
151889534	CV1436035	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-7C>A	Mucopolysaccharidosis, MPS-III-C [RCV001963448]	likely benign\|uncertain significance	8	43191467	43191467	Human	1	name
151798691	CV1503960	single nucleotide variant	NM_152419.3(HGSNAT):c.1378-2A>G	Mucopolysaccharidosis, MPS-III-C [RCV001973705]	likely pathogenic	8	43193755	43193755	Human	1	name
151770897	CV1514800	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-2A>G	Mucopolysaccharidosis, MPS-III-C [RCV002045234]\|Retinitis pigmentosa 73 [RCV005254012]	pathogenic\|likely pathogenic	8	43197670	43197670	Human	2	name
152051293	CV1521381	single nucleotide variant	NM_152419.3(HGSNAT):c.118+10C>T	Mucopolysaccharidosis, MPS-III-C [RCV002145723]	likely benign	8	43140624	43140624	Human	1	name
152098006	CV1534427	single nucleotide variant	NM_152419.3(HGSNAT):c.494-15C>A	Mucopolysaccharidosis, MPS-III-C [RCV002095121]	likely benign	8	43161423	43161423	Human	1	name
152169760	CV1538698	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+9G>C	Mucopolysaccharidosis, MPS-III-C [RCV002182913]	likely benign	8	43192439	43192439	Human	1	name
152173521	CV1539572	single nucleotide variant	NM_152419.3(HGSNAT):c.743+10C>T	Mucopolysaccharidosis, MPS-III-C [RCV002162838]	likely benign	8	43170704	43170704	Human	1	name
152116049	CV1540911	single nucleotide variant	NM_152419.3(HGSNAT):c.118+20C>G	Mucopolysaccharidosis, MPS-III-C [RCV002197409]	likely benign	8	43140634	43140634	Human	1	name
152036156	CV1545935	single nucleotide variant	NM_152419.3(HGSNAT):c.743+17G>A	Mucopolysaccharidosis, MPS-III-C [RCV002164973]	likely benign	8	43170711	43170711	Human	1	name
152032655	CV1546369	single nucleotide variant	NM_152419.3(HGSNAT):c.821-28T>C	Mucopolysaccharidosis, MPS-III-C [RCV002124789]	benign	8	43173685	43173685	Human	1	name
152120018	CV1547317	single nucleotide variant	NM_152419.3(HGSNAT):c.821-30T>C	Mucopolysaccharidosis, MPS-III-C [RCV002081424]	likely benign	8	43173683	43173683	Human	1	name
152115659	CV1553856	single nucleotide variant	NM_152419.3(HGSNAT):c.235-13C>G	Mucopolysaccharidosis, MPS-III-C [RCV002117151]	likely benign	8	43158562	43158562	Human	1	name
152045925	CV1556185	single nucleotide variant	NM_152419.3(HGSNAT):c.821-27T>G	Mucopolysaccharidosis, MPS-III-C [RCV002206920]	likely benign	8	43173686	43173686	Human	1	name
152074202	CV1557447	single nucleotide variant	NM_152419.3(HGSNAT):c.1013-9C>G	Mucopolysaccharidosis, MPS-III-C [RCV002129997]	likely benign	8	43182136	43182136	Human	1	name
152074387	CV1557556	single nucleotide variant	NM_152419.3(HGSNAT):c.494-12C>T	Mucopolysaccharidosis, MPS-III-C [RCV002130021]	likely benign	8	43161426	43161426	Human	1	name
152057153	CV1567241	single nucleotide variant	NM_152419.3(HGSNAT):c.851+14C>G	Mucopolysaccharidosis, MPS-III-C [RCV002146368]	likely benign	8	43173757	43173757	Human	1	name
152074083	CV1570371	deletion	NM_152419.3(HGSNAT):c.1012+8del	Mucopolysaccharidosis, MPS-III-C [RCV002210361]	likely benign	8	43178242	43178242	Human	1	name
152171898	CV1575654	single nucleotide variant	NM_152419.3(HGSNAT):c.118+20C>T	Mucopolysaccharidosis, MPS-III-C [RCV002183658]	likely benign	8	43140634	43140634	Human	1	name
152120493	CV1576206	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-7C>T	Mucopolysaccharidosis, MPS-III-C [RCV002197983]	likely benign	8	43196941	43196941	Human	1	name
152175852	CV1580097	single nucleotide variant	NM_152419.3(HGSNAT):c.852-13A>G	Mucopolysaccharidosis, MPS-III-C [RCV002163989]	likely benign	8	43178061	43178061	Human	1	name
152159491	CV1588103	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+7G>A	Mucopolysaccharidosis, MPS-III-C [RCV002180679]	likely benign	8	43192437	43192437	Human	1	name
152087084	CV1589917	single nucleotide variant	NM_152419.3(HGSNAT):c.118+12C>G	Mucopolysaccharidosis, MPS-III-C [RCV002193772]	likely benign	8	43140626	43140626	Human	1	name
152153932	CV1592954	single nucleotide variant	NM_152419.3(HGSNAT):c.118+17T>C	Mucopolysaccharidosis, MPS-III-C [RCV002202405]	likely benign	8	43140631	43140631	Human	1	name
152162305	CV1608827	single nucleotide variant	NM_152419.3(HGSNAT):c.851+10C>G	Mucopolysaccharidosis, MPS-III-C [RCV002104029]	likely benign	8	43173753	43173753	Human	1	name
152165115	CV1611271	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-6T>C	Mucopolysaccharidosis, MPS-III-C [RCV002141656]	likely benign	8	43192298	43192298	Human	1	name
152165714	CV1611425	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-6A>G	Mucopolysaccharidosis, MPS-III-C [RCV002141772]	likely benign	8	43191468	43191468	Human	1	name
152062107	CV1612387	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-9C>T	Mucopolysaccharidosis, MPS-III-C [RCV002168121]	likely benign	8	43197831	43197831	Human	1	name
152127108	CV1615081	single nucleotide variant	NM_152419.3(HGSNAT):c.118+16C>G	Mucopolysaccharidosis, MPS-III-C [RCV002082363]	likely benign	8	43140630	43140630	Human	1	name
152073139	CV1615364	single nucleotide variant	NM_152419.3(HGSNAT):c.234+17A>G	Mucopolysaccharidosis, MPS-III-C [RCV002091865]	likely benign	8	43147080	43147080	Human	1	name
152159198	CV1621084	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+7G>C	Mucopolysaccharidosis, MPS-III-C [RCV002203140]	likely benign	8	43191602	43191602	Human	1	name
152115387	CV1628213	single nucleotide variant	NM_152419.3(HGSNAT):c.851+16G>T	Mucopolysaccharidosis, MPS-III-C [RCV002197328]	likely benign	8	43173759	43173759	Human	1	name
152035732	CV1635976	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-9C>T	Mucopolysaccharidosis, MPS-III-C [RCV002106944]	likely benign	8	43196939	43196939	Human	1	name
152111425	CV1640391	single nucleotide variant	NM_152419.3(HGSNAT):c.234+18C>T	Mucopolysaccharidosis, MPS-III-C [RCV002174383]	likely benign	8	43147081	43147081	Human	1	name
152075058	CV1652878	single nucleotide variant	NM_152419.3(HGSNAT):c.234+10A>T	Mucopolysaccharidosis, MPS-III-C [RCV002148590]	likely benign	8	43147073	43147073	Human	1	name
152090773	CV1654907	single nucleotide variant	NM_152419.3(HGSNAT):c.851+19C>T	Mucopolysaccharidosis, MPS-III-C [RCV002212693]	likely benign	8	43173762	43173762	Human	1	name
152067427	CV1660100	single nucleotide variant	NM_152419.3(HGSNAT):c.563+20C>T	Mucopolysaccharidosis, MPS-III-C [RCV002147619]	likely benign	8	43161527	43161527	Human	1	name
155267629	CV1705029	single nucleotide variant	NM_152419.3(HGSNAT):c.118+69C>T	not provided [RCV002285634]	likely benign	8	43140683	43140683	Human		name
155948982	CV1869297	single nucleotide variant	NM_152419.3(HGSNAT):c.1012+7A>G	Mucopolysaccharidosis, MPS-III-C [RCV003074032]	likely benign	8	43178241	43178241	Human	1	name
155944568	CV1875214	single nucleotide variant	NM_152419.3(HGSNAT):c.1613+5G>A	Mucopolysaccharidosis, MPS-III-C [RCV003073764]	uncertain significance	8	43197747	43197747	Human	1	name
156354920	CV1880164	single nucleotide variant	NM_152419.3(HGSNAT):c.744-16T>C	Mucopolysaccharidosis, MPS-III-C [RCV003065156]	likely benign\|uncertain significance	8	43172294	43172294	Human	1	name
155976916	CV1886110	single nucleotide variant	NM_152419.3(HGSNAT):c.119-12A>G	Mucopolysaccharidosis, MPS-III-C [RCV003075462]	likely benign	8	43146936	43146936	Human	1	name
156401599	CV1889156	single nucleotide variant	NM_152419.3(HGSNAT):c.851+19C>A	Mucopolysaccharidosis, MPS-III-C [RCV003069193]	likely benign	8	43173762	43173762	Human	1	name
156411495	CV1893248	single nucleotide variant	NM_152419.3(HGSNAT):c.118+18A>G	Mucopolysaccharidosis, MPS-III-C [RCV003072503]	likely benign	8	43140632	43140632	Human	1	name
156416918	CV1908761	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-6C>T	Mucopolysaccharidosis, MPS-III-C [RCV002610428]	likely benign	8	43196942	43196942	Human	1	name
156444103	CV1937625	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-3A>C	Mucopolysaccharidosis, MPS-III-C [RCV003115022]	uncertain significance	8	43199385	43199385	Human	1	name
156449146	CV1944406	duplication	NM_152419.3(HGSNAT):c.1012+7dup	Mucopolysaccharidosis, MPS-III-C [RCV003121258]	likely benign	8	43178240	43178241	Human	1	name
156449147	CV1944407	single nucleotide variant	NM_152419.3(HGSNAT):c.1012+8C>A	Mucopolysaccharidosis, MPS-III-C [RCV003121259]	likely benign	8	43178242	43178242	Human	1	name
156221010	CV1965335	single nucleotide variant	NM_152419.3(HGSNAT):c.634-18C>G	Mucopolysaccharidosis, MPS-III-C [RCV002596459]	likely benign	8	43170567	43170567	Human	1	name
156075631	CV1979189	single nucleotide variant	NM_152419.3(HGSNAT):c.118+13C>G	Mucopolysaccharidosis, MPS-III-C [RCV002621379]	likely benign	8	43140627	43140627	Human	1	name
156122225	CV1998338	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-5C>T	Mucopolysaccharidosis, MPS-III-C [RCV002662900]	likely benign	8	43197835	43197835	Human	1	name
156285942	CV2001711	single nucleotide variant	NM_152419.3(HGSNAT):c.744-19C>G	Mucopolysaccharidosis, MPS-III-C [RCV002647008]	likely benign	8	43172291	43172291	Human	1	name
156362515	CV2003302	single nucleotide variant	NM_152419.3(HGSNAT):c.821-14T>C	Mucopolysaccharidosis, MPS-III-C [RCV002676339]	likely benign	8	43173699	43173699	Human	1	name
156012404	CV2008917	single nucleotide variant	NM_152419.3(HGSNAT):c.493+16C>G	Mucopolysaccharidosis, MPS-III-C [RCV002690586]	likely benign	8	43159060	43159060	Human	1	name
155957891	CV2040255	single nucleotide variant	NM_152419.3(HGSNAT):c.821-31C>T	Mucopolysaccharidosis, MPS-III-C [RCV002776113]	likely benign	8	43173682	43173682	Human	1	name
156054311	CV2060186	single nucleotide variant	NM_152419.3(HGSNAT):c.633+10G>A	Mucopolysaccharidosis, MPS-III-C [RCV002796871]	likely benign	8	43169252	43169252	Human	1	name
156328595	CV2064993	single nucleotide variant	NM_152419.3(HGSNAT):c.820+19G>C	Mucopolysaccharidosis, MPS-III-C [RCV002835161]	likely benign	8	43172405	43172405	Human	1	name
156229852	CV2093752	single nucleotide variant	NM_152419.3(HGSNAT):c.494-13T>C	Mucopolysaccharidosis, MPS-III-C [RCV002894510]	likely benign	8	43161425	43161425	Human	1	name
156015719	CV2114392	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-1G>C	Mucopolysaccharidosis, MPS-III-C [RCV002909353]	likely pathogenic	8	43197839	43197839	Human	1	name
155944418	CV2143201	single nucleotide variant	NM_152419.3(HGSNAT):c.851+11G>A	Mucopolysaccharidosis, MPS-III-C [RCV002994259]	likely benign	8	43173754	43173754	Human	1	name
156000194	CV2149354	single nucleotide variant	NM_152419.3(HGSNAT):c.118+16C>T	Mucopolysaccharidosis, MPS-III-C [RCV002996981]	likely benign	8	43140630	43140630	Human	1	name
156177592	CV2166444	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-9C>T	Mucopolysaccharidosis, MPS-III-C [RCV003023725]	likely benign	8	43192295	43192295	Human	1	name
156003549	CV2166517	single nucleotide variant	NM_152419.3(HGSNAT):c.372-11A>T	Mucopolysaccharidosis, MPS-III-C [RCV003017389]	likely benign	8	43158912	43158912	Human	1	name
156327778	CV2184531	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-4C>G	Mucopolysaccharidosis, MPS-III-C [RCV003047032]	likely benign	8	43192300	43192300	Human	1	name
156258221	CV2264937	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-2A>G	Inborn genetic diseases [RCV002831542]	uncertain significance	8	43197838	43197838	Human	1	name
11544884	CV253146	single nucleotide variant	NM_152419.3(HGSNAT):c.493+46G>T	not provided [RCV001545448]\|not specified [RCV000244390]	benign\|likely benign	8	43159090	43159090	Human		name
329952027	CV2668770	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+5G>A	not specified [RCV003230851]	uncertain significance	8	43191600	43191600	Human		name
11599114	CV305403	single nucleotide variant	NM_152419.3(HGSNAT):c.234+14C>G	Mucopolysaccharidosis, MPS-III-C [RCV000263117]\|Mucopolysaccharidosis, MPS-III-C [RCV001514319]\|not provided [RCV000514120]	benign\|likely benign\|uncertain significance	8	43147077	43147077	Human	1	name
405052342	CV3084771	single nucleotide variant	NM_152419.3(HGSNAT):c.634-20T>G	Mucopolysaccharidosis, MPS-III-C [RCV003798178]	likely benign	8	43170565	43170565	Human	1	name
404997915	CV3085762	single nucleotide variant	NM_152419.3(HGSNAT):c.494-16T>C	Mucopolysaccharidosis, MPS-III-C [RCV003783132]	likely benign	8	43161422	43161422	Human	1	name
402521049	CV3086317	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV003781090]	likely pathogenic	8	43197953	43197953	Human	1	name
402521680	CV3086548	single nucleotide variant	NM_152419.3(HGSNAT):c.563+18G>A	Mucopolysaccharidosis, MPS-III-C [RCV003781164]	likely benign	8	43161525	43161525	Human	1	name
405020055	CV3087976	single nucleotide variant	NM_152419.3(HGSNAT):c.118+11A>G	Mucopolysaccharidosis, MPS-III-C [RCV003795536]	likely benign	8	43140625	43140625	Human	1	name
402503847	CV3090120	single nucleotide variant	NM_152419.3(HGSNAT):c.851+17C>T	Mucopolysaccharidosis, MPS-III-C [RCV003788887]	likely benign	8	43173760	43173760	Human	1	name
402486436	CV3090406	single nucleotide variant	NM_152419.3(HGSNAT):c.821-26G>A	Mucopolysaccharidosis, MPS-III-C [RCV003787066]	likely benign	8	43173687	43173687	Human	1	name
402486449	CV3090407	single nucleotide variant	NM_152419.3(HGSNAT):c.235-18T>C	Mucopolysaccharidosis, MPS-III-C [RCV003787067]	likely benign	8	43158557	43158557	Human	1	name
402489347	CV3090895	single nucleotide variant	NM_152419.3(HGSNAT):c.634-16C>T	Mucopolysaccharidosis, MPS-III-C [RCV003787397]	likely benign	8	43170569	43170569	Human	1	name
402517969	CV3091771	single nucleotide variant	NM_152419.3(HGSNAT):c.493+14C>G	Mucopolysaccharidosis, MPS-III-C [RCV003790217]	likely benign	8	43159058	43159058	Human	1	name
405035728	CV3093180	single nucleotide variant	NM_152419.3(HGSNAT):c.851+16G>C	Mucopolysaccharidosis, MPS-III-C [RCV003786531]	likely benign	8	43173759	43173759	Human	1	name
405012084	CV3093437	single nucleotide variant	NM_152419.3(HGSNAT):c.118+11A>C	Mucopolysaccharidosis, MPS-III-C [RCV003784441]	likely benign	8	43140625	43140625	Human	1	name
405028336	CV3094869	single nucleotide variant	NM_152419.3(HGSNAT):c.851+19C>G	Mucopolysaccharidosis, MPS-III-C [RCV003796231]	likely benign	8	43173762	43173762	Human	1	name
405029941	CV3095180	single nucleotide variant	NM_152419.3(HGSNAT):c.633+19A>G	Mucopolysaccharidosis, MPS-III-C [RCV003796385]	likely benign	8	43169261	43169261	Human	1	name
405001581	CV3095506	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-9C>T	Mucopolysaccharidosis, MPS-III-C [RCV003793809]	likely benign	8	43199379	43199379	Human	1	name
405003619	CV3095698	single nucleotide variant	NM_152419.3(HGSNAT):c.493+14C>T	Mucopolysaccharidosis, MPS-III-C [RCV003794003]	likely benign	8	43159058	43159058	Human	1	name
405009865	CV3096576	single nucleotide variant	NM_152419.3(HGSNAT):c.744-20T>G	Mucopolysaccharidosis, MPS-III-C [RCV003794565]	likely benign	8	43172290	43172290	Human	1	name
405010299	CV3096618	single nucleotide variant	NM_152419.3(HGSNAT):c.234+20C>T	Mucopolysaccharidosis, MPS-III-C [RCV003794607]	likely benign	8	43147083	43147083	Human	1	name
404978782	CV3099107	single nucleotide variant	NM_152419.3(HGSNAT):c.234+10A>C	Mucopolysaccharidosis, MPS-III-C [RCV003791087]	likely benign	8	43147073	43147073	Human	1	name
404978864	CV3099123	single nucleotide variant	NM_152419.3(HGSNAT):c.744-15G>T	Mucopolysaccharidosis, MPS-III-C [RCV003791104]	likely benign	8	43172295	43172295	Human	1	name
404979038	CV3099323	single nucleotide variant	NM_152419.3(HGSNAT):c.118+13C>T	Mucopolysaccharidosis, MPS-III-C [RCV003791151]	likely benign	8	43140627	43140627	Human	1	name
404980949	CV3099678	single nucleotide variant	NM_152419.3(HGSNAT):c.235-19G>A	Mucopolysaccharidosis, MPS-III-C [RCV003791507]	likely benign	8	43158556	43158556	Human	1	name
405075084	CV3100236	single nucleotide variant	NM_152419.3(HGSNAT):c.744-18T>A	Mucopolysaccharidosis, MPS-III-C [RCV003799789]	likely benign	8	43172292	43172292	Human	1	name
405079541	CV3100514	single nucleotide variant	NM_152419.3(HGSNAT):c.633+17A>G	Mucopolysaccharidosis, MPS-III-C [RCV003800067]	likely benign	8	43169259	43169259	Human	1	name
405017232	CV3100730	single nucleotide variant	NM_152419.3(HGSNAT):c.371+11G>C	Mucopolysaccharidosis, MPS-III-C [RCV003805478]	likely benign	8	43158722	43158722	Human	1	name
405176154	CV3101133	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-5T>G	Mucopolysaccharidosis, MPS-III-C [RCV003803520]	likely benign	8	43197667	43197667	Human	1	name
405151859	CV3101911	single nucleotide variant	NM_152419.3(HGSNAT):c.234+20C>G	Mucopolysaccharidosis, MPS-III-C [RCV003801515]	likely benign	8	43147083	43147083	Human	1	name
405002392	CV3102071	single nucleotide variant	NM_152419.3(HGSNAT):c.371+16G>C	Mucopolysaccharidosis, MPS-III-C [RCV003804116]	likely benign	8	43158727	43158727	Human	1	name
405005014	CV3102302	single nucleotide variant	NM_152419.3(HGSNAT):c.743+13C>G	Mucopolysaccharidosis, MPS-III-C [RCV003804348]	likely benign	8	43170707	43170707	Human	1	name
405057532	CV3102410	single nucleotide variant	NM_152419.3(HGSNAT):c.563+18G>C	Mucopolysaccharidosis, MPS-III-C [RCV003798552]	likely benign	8	43161525	43161525	Human	1	name
405058217	CV3102465	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-7C>T	Mucopolysaccharidosis, MPS-III-C [RCV003798607]	likely benign	8	43197833	43197833	Human	1	name
405060514	CV3102791	single nucleotide variant	NM_152419.3(HGSNAT):c.371+17T>C	Mucopolysaccharidosis, MPS-III-C [RCV003798781]	likely benign	8	43158728	43158728	Human	1	name
405062286	CV3102929	single nucleotide variant	NM_152419.3(HGSNAT):c.235-19G>C	Mucopolysaccharidosis, MPS-III-C [RCV003798920]	likely benign	8	43158556	43158556	Human	1	name
405062569	CV3102951	single nucleotide variant	NM_152419.3(HGSNAT):c.1128+9C>A	Mucopolysaccharidosis, MPS-III-C [RCV003798942]	likely benign	8	43182269	43182269	Human	1	name
405064043	CV3103094	single nucleotide variant	NM_152419.3(HGSNAT):c.633+13A>G	Mucopolysaccharidosis, MPS-III-C [RCV003799085]	likely benign	8	43169255	43169255	Human	1	name
405042364	CV3103692	single nucleotide variant	NM_152419.3(HGSNAT):c.118+12C>T	Mucopolysaccharidosis, MPS-III-C [RCV003797410]	likely benign	8	43140626	43140626	Human	1	name
405090189	CV3105064	single nucleotide variant	NM_152419.3(HGSNAT):c.118+13C>A	Mucopolysaccharidosis, MPS-III-C [RCV003800947]	likely benign	8	43140627	43140627	Human	1	name
405034738	CV3105820	single nucleotide variant	NM_152419.3(HGSNAT):c.118+19C>T	Mucopolysaccharidosis, MPS-III-C [RCV003796669]	likely benign	8	43140633	43140633	Human	1	name
405041308	CV3106791	single nucleotide variant	NM_152419.3(HGSNAT):c.851+11G>C	Mucopolysaccharidosis, MPS-III-C [RCV003797321]	likely benign	8	43173754	43173754	Human	1	name
405085442	CV3107588	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-9C>T	Mucopolysaccharidosis, MPS-III-C [RCV003800458]	likely benign	8	43191465	43191465	Human	1	name
405063123	CV3108774	single nucleotide variant	NM_152419.3(HGSNAT):c.372-13C>T	Mucopolysaccharidosis, MPS-III-C [RCV003809184]	likely benign	8	43158910	43158910	Human	1	name
405010347	CV3109149	single nucleotide variant	NM_152419.3(HGSNAT):c.118+18A>C	Mucopolysaccharidosis, MPS-III-C [RCV003804817]	likely benign	8	43140632	43140632	Human	1	name
405011064	CV3109239	single nucleotide variant	NM_152419.3(HGSNAT):c.235-16G>T	Mucopolysaccharidosis, MPS-III-C [RCV003804907]	likely benign	8	43158559	43158559	Human	1	name
405161137	CV3109849	duplication	NM_152419.3(HGSNAT):c.1727-4dup	Mucopolysaccharidosis, MPS-III-C [RCV003802208]	likely benign	8	43199382	43199383	Human	1	name
405154781	CV3110322	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-6T>A	Mucopolysaccharidosis, MPS-III-C [RCV003817843]	likely benign	8	43197834	43197834	Human	1	name
405156491	CV3110488	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-5T>A	Mucopolysaccharidosis, MPS-III-C [RCV003818009]	likely benign	8	43199383	43199383	Human	1	name
405065903	CV3110886	single nucleotide variant	NM_152419.3(HGSNAT):c.852-16A>G	Mucopolysaccharidosis, MPS-III-C [RCV003809390]	likely benign	8	43178058	43178058	Human	1	name
405154885	CV3111261	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-8C>A	Mucopolysaccharidosis, MPS-III-C [RCV003801717]	likely benign	8	43192296	43192296	Human	1	name
405125923	CV3111890	single nucleotide variant	NM_152419.3(HGSNAT):c.372-12T>C	Mucopolysaccharidosis, MPS-III-C [RCV003815363]	likely benign	8	43158911	43158911	Human	1	name
405082717	CV3113536	single nucleotide variant	NM_152419.3(HGSNAT):c.821-20G>T	Mucopolysaccharidosis, MPS-III-C [RCV003810553]	likely benign	8	43173693	43173693	Human	1	name
405037754	CV3114017	duplication	NM_152419.3(HGSNAT):c.1129-7dup	Mucopolysaccharidosis, MPS-III-C [RCV003807231]	benign	8	43191462	43191463	Human	1	name
11599510	CV314513	single nucleotide variant	NM_152419.3(HGSNAT):c.371+15T>A	Mucopolysaccharidosis, MPS-III-C [RCV000266373]\|Mucopolysaccharidosis, MPS-III-C [RCV003766091]	likely benign\|uncertain significance	8	43158726	43158726	Human	1	name
11610632	CV314597	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+7G>A	Mucopolysaccharidosis, MPS-III-C [RCV000384314]\|Mucopolysaccharidosis, MPS-III-C [RCV000887890]\|not provided [RCV004707202]	benign\|likely benign\|uncertain significance	8	43191602	43191602	Human	1	name
597840139	CV3867836	single nucleotide variant	NM_152419.3(HGSNAT):c.119-15C>T	Mucopolysaccharidosis, MPS-III-C [RCV005211032]	likely benign	8	43146933	43146933	Human	1	name
597910215	CV3870899	single nucleotide variant	NM_152419.3(HGSNAT):c.494-19T>A	Mucopolysaccharidosis, MPS-III-C [RCV005221761]	likely benign	8	43161419	43161419	Human	1	name
597927467	CV3874131	single nucleotide variant	NM_152419.3(HGSNAT):c.234+16C>T	Mucopolysaccharidosis, MPS-III-C [RCV005224403]	likely benign	8	43147079	43147079	Human	1	name
597924673	CV3877347	single nucleotide variant	NM_152419.3(HGSNAT):c.118+11A>T	Mucopolysaccharidosis, MPS-III-C [RCV005224043]	likely benign	8	43140625	43140625	Human	1	name
597859487	CV3878048	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-9C>A	Mucopolysaccharidosis, MPS-III-C [RCV005229358]	likely benign	8	43197663	43197663	Human	1	name
597859493	CV3878049	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-8C>T	Mucopolysaccharidosis, MPS-III-C [RCV005229359]	likely benign	8	43197664	43197664	Human	1	name
13435139	CV431722	duplication	NM_152419.3(HGSNAT):c.1542+4dup	Mucopolysaccharidosis, MPS-III-C [RCV001339990]\|Mucopolysaccharidosis, MPS-III-C [RCV001810455]\|Retinal dystrophy [RCV000505003]	pathogenic\|likely pathogenic\|uncertain significance	8	43197027	43197028	Human	3	name
13516816	CV488261	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-9C>G	Mucopolysaccharidosis, MPS-III-C [RCV001083554]\|Mucopolysaccharidosis, MPS-III-C [RCV001162304]\|not provided [RCV000675866]\|not specified [RCV000595996]	benign	8	43199379	43199379	Human	1	name
13789817	CV544430	single nucleotide variant	NM_152419.3(HGSNAT):c.1542+1G>A	Mucopolysaccharidosis, MPS-III-C [RCV000674699]	likely pathogenic	8	43197026	43197026	Human	1	name
13791826	CV544443	single nucleotide variant	NM_152419.3(HGSNAT):c.1542+1G>C	Mucopolysaccharidosis, MPS-III-C [RCV000667942]	likely pathogenic	8	43197026	43197026	Human	1	name
13786457	CV544447	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-2A>T	Mucopolysaccharidosis, MPS-III-C [RCV000672832]\|Mucopolysaccharidosis, MPS-III-C [RCV001855586]\|Retinal dystrophy [RCV004817902]\|not provided [RCV003489791]	likely pathogenic\|uncertain significance	8	43197838	43197838	Human	3	name
13785485	CV544789	single nucleotide variant	NM_152419.3(HGSNAT):c.1542+2T>G	Mucopolysaccharidosis, MPS-III-C [RCV000672073]	likely pathogenic	8	43197027	43197027	Human	1	name
13790652	CV544830	duplication	NM_152419.3(HGSNAT):c.1012+2dup	Mucopolysaccharidosis, MPS-III-C [RCV000673629]	uncertain significance	8	43178235	43178236	Human	1	name
13783369	CV544833	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-2A>T	Mucopolysaccharidosis, MPS-III-C [RCV000670012]\|Mucopolysaccharidosis, MPS-III-C [RCV001069675]	likely pathogenic	8	43191472	43191472	Human	1	name
15189583	CV730577	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-4C>T	Inborn genetic diseases [RCV002539370]\|Mucopolysaccharidosis, MPS-III-C [RCV000887861]	likely benign	8	43192300	43192300	Human	2	name
15172467	CV744365	single nucleotide variant	NM_152419.3(HGSNAT):c.1128+8A>G	Mucopolysaccharidosis, MPS-III-C [RCV000905673]	likely benign	8	43182268	43182268	Human	1	name
15161947	CV759728	single nucleotide variant	NM_152419.3(HGSNAT):c.851+10C>T	Mucopolysaccharidosis, MPS-III-C [RCV001159326]\|Mucopolysaccharidosis, MPS-III-C [RCV001400192]	likely benign\|uncertain significance	8	43173753	43173753	Human	1	name
15164230	CV779400	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-5C>T	Mucopolysaccharidosis, MPS-III-C [RCV001399266]	likely benign	8	43191469	43191469	Human	1	name
28909528	CV900503	single nucleotide variant	NM_152419.3(HGSNAT):c.1128+3G>A	Mucopolysaccharidosis, MPS-III-C [RCV001160689]\|Mucopolysaccharidosis, MPS-III-C [RCV002557372]	uncertain significance	8	43182263	43182263	Human	1	name
38463645	CV940105	single nucleotide variant	NM_152419.3(HGSNAT):c.1013-1G>C	Mucopolysaccharidosis, MPS-III-C [RCV001201450]\|Retinal dystrophy [RCV003890342]	pathogenic\|likely pathogenic	8	43182144	43182144	Human	3	name
38457579	CV962893	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-2A>C	Retinitis pigmentosa 73 [RCV001250775]	pathogenic	8	43197670	43197670	Human	1	name
126728694	CV985616	single nucleotide variant	NM_152419.3(HGSNAT):c.1378-1G>A	Sanfilippo syndrome [RCV001293488]	pathogenic	8	43193756	43193756	Human	1	name
8643412	CV102395	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+20G>A	Mucopolysaccharidosis, MPS-III-C [RCV000625331]\|Mucopolysaccharidosis, MPS-III-C [RCV001511649]\|Retinitis pigmentosa 73 [RCV001532800]\|not provided [RCV000589562]\|not specified [RCV000082653]	benign	8	43192450	43192450	Human	2	name
127235250	CV1097085	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-14G>A	Mucopolysaccharidosis, MPS-III-C [RCV001433061]	likely benign	8	43196934	43196934	Human	1	name
127313087	CV1118633	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+14G>A	Mucopolysaccharidosis, MPS-III-C [RCV001464606]	likely benign	8	43192444	43192444	Human	1	name
127315105	CV1139516	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-17A>G	Mucopolysaccharidosis, MPS-III-C [RCV001482445]	likely benign	8	43199371	43199371	Human	1	name
150410045	CV1190782	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-74A>G	not provided [RCV001565867]	likely benign	8	43197598	43197598	Human		name
150470749	CV1209387	single nucleotide variant	NM_152419.3(HGSNAT):c.821-235T>A	not provided [RCV001588498]	likely benign	8	43173478	43173478	Human		name
150435021	CV1216037	single nucleotide variant	NM_152419.3(HGSNAT):c.821-276G>A	not provided [RCV001609227]	benign	8	43173437	43173437	Human		name
150451832	CV1220914	single nucleotide variant	NM_152419.3(HGSNAT):c.820+123C>T	not provided [RCV001612008]	benign	8	43172509	43172509	Human		name
150433041	CV1231650	single nucleotide variant	NM_152419.3(HGSNAT):c.118+333C>T	not provided [RCV001643312]	benign	8	43140947	43140947	Human		name
150454482	CV1232280	single nucleotide variant	NM_152419.3(HGSNAT):c.234+331C>T	not provided [RCV001648293]	benign	8	43147394	43147394	Human		name
150459296	CV1248648	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-47C>T	not provided [RCV001669258]	benign	8	43192257	43192257	Human		name
150502377	CV1254510	single nucleotide variant	NM_152419.3(HGSNAT):c.493+120G>A	not provided [RCV001677212]	benign	8	43159164	43159164	Human		name
150467471	CV1255912	deletion	NM_152419.3(HGSNAT):c.119-164del	not provided [RCV001670546]	benign	8	43146784	43146784	Human		name
150474260	CV1272306	single nucleotide variant	NM_152419.3(HGSNAT):c.633+210G>A	not provided [RCV001695844]	benign	8	43169452	43169452	Human		name
151836252	CV1351173	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-17T>A	Mucopolysaccharidosis, MPS-III-C [RCV002014818]	uncertain significance	8	43196931	43196931	Human	1	name
152055943	CV1522956	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+11C>A	Mucopolysaccharidosis, MPS-III-C [RCV002167433]	likely benign	8	43191606	43191606	Human	1	name
152142628	CV1533214	single nucleotide variant	NM_152419.3(HGSNAT):c.1013-12T>G	Mucopolysaccharidosis, MPS-III-C [RCV002156969]	likely benign	8	43182133	43182133	Human	1	name
152064291	CV1535772	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+11A>G	Mucopolysaccharidosis, MPS-III-C [RCV002168412]	likely benign	8	43193854	43193854	Human	1	name
152073248	CV1551800	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-12T>G	Mucopolysaccharidosis, MPS-III-C [RCV002075386]	likely benign	8	43197660	43197660	Human	1	name
152116188	CV1553372	duplication	NM_152419.3(HGSNAT):c.1726+22dup	Mucopolysaccharidosis, MPS-III-C [RCV002080924]	likely benign	8	43197971	43197972	Human	1	name
152073084	CV1556540	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-11C>A	Mucopolysaccharidosis, MPS-III-C [RCV002111725]	likely benign	8	43197661	43197661	Human	1	name
152107481	CV1560269	single nucleotide variant	NM_152419.3(HGSNAT):c.1013-20C>T	Mucopolysaccharidosis, MPS-III-C [RCV002134043]	likely benign	8	43182125	43182125	Human	1	name
152069063	CV1562222	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-11C>G	Mucopolysaccharidosis, MPS-III-C [RCV002169054]	likely benign	8	43199377	43199377	Human	1	name
152139364	CV1562806	single nucleotide variant	NM_152419.3(HGSNAT):c.1542+18C>T	Mucopolysaccharidosis, MPS-III-C [RCV002100555]	likely benign	8	43197043	43197043	Human	1	name
152124538	CV1563278	single nucleotide variant	NM_152419.3(HGSNAT):c.1542+20C>T	Mucopolysaccharidosis, MPS-III-C [RCV002118275]	benign	8	43197045	43197045	Human	1	name
152051405	CV1569266	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+17C>T	Mucopolysaccharidosis, MPS-III-C [RCV002207566]	likely benign	8	43197969	43197969	Human	1	name
152167424	CV1577441	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-16G>A	Mucopolysaccharidosis, MPS-III-C [RCV002204702]	likely benign	8	43196932	43196932	Human	1	name
152170718	CV1592551	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-19G>C	Mucopolysaccharidosis, MPS-III-C [RCV002161864]	likely benign	8	43199369	43199369	Human	1	name
152067668	CV1600273	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-15G>A	Mucopolysaccharidosis, MPS-III-C [RCV002111010]	likely benign	8	43199373	43199373	Human	1	name
152106343	CV1609046	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-13C>G	Mucopolysaccharidosis, MPS-III-C [RCV002096217]	likely benign	8	43199375	43199375	Human	1	name
152140736	CV1609132	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+10C>T	Mucopolysaccharidosis, MPS-III-C [RCV002200541]	likely benign	8	43191605	43191605	Human	1	name
152175427	CV1614252	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-17A>T	Mucopolysaccharidosis, MPS-III-C [RCV002163561]	likely benign	8	43199371	43199371	Human	1	name
152036253	CV1617492	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+12C>T	Mucopolysaccharidosis, MPS-III-C [RCV002125375]	likely benign	8	43191607	43191607	Human	1	name
152042179	CV1619575	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-16C>G	Mucopolysaccharidosis, MPS-III-C [RCV002188410]	likely benign	8	43192288	43192288	Human	1	name
152086278	CV1633721	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-19G>A	Mucopolysaccharidosis, MPS-III-C [RCV002113432]	likely benign	8	43199369	43199369	Human	1	name
152073109	CV1637944	single nucleotide variant	NM_152419.3(HGSNAT):c.1378-20T>G	Mucopolysaccharidosis, MPS-III-C [RCV002192055]	likely benign	8	43193737	43193737	Human	1	name
152062318	CV1638573	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-16C>T	Mucopolysaccharidosis, MPS-III-C [RCV002073823]	likely benign	8	43197656	43197656	Human	1	name
152099571	CV1655078	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-20C>A	Mucopolysaccharidosis, MPS-III-C [RCV002115147]	likely benign	8	43197652	43197652	Human	1	name
152033447	CV1658077	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-13C>T	Mucopolysaccharidosis, MPS-III-C [RCV002187090]	likely benign	8	43197827	43197827	Human	1	name
152145385	CV1658330	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+19C>T	Mucopolysaccharidosis, MPS-III-C [RCV002219961]	likely benign	8	43192449	43192449	Human	1	name
152166709	CV1661374	single nucleotide variant	NM_152419.3(HGSNAT):c.1378-13T>G	Mucopolysaccharidosis, MPS-III-C [RCV002124276]	likely benign	8	43193744	43193744	Human	1	name
155265026	CV1704566	single nucleotide variant	NM_152419.3(HGSNAT):c.118+221G>T	not provided [RCV002284782]	likely benign	8	43140835	43140835	Human		name
155267836	CV1705179	single nucleotide variant	NM_152419.3(HGSNAT):c.493+836G>A	not provided [RCV002285784]	likely benign	8	43159880	43159880	Human		name
156269931	CV1870654	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-10C>G	Mucopolysaccharidosis, MPS-III-C [RCV003060677]	likely benign	8	43197662	43197662	Human	1	name
156153888	CV1875297	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+13C>T	Mucopolysaccharidosis, MPS-III-C [RCV003056634]	likely benign	8	43192443	43192443	Human	1	name
156222246	CV1879364	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-10C>A	Mucopolysaccharidosis, MPS-III-C [RCV003058987]	likely benign	8	43191464	43191464	Human	1	name
156351987	CV1883257	single nucleotide variant	NM_152419.3(HGSNAT):c.1542+12G>A	Mucopolysaccharidosis, MPS-III-C [RCV003091050]	likely benign	8	43197037	43197037	Human	1	name
156413668	CV1905349	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+17G>T	Mucopolysaccharidosis, MPS-III-C [RCV003073390]	likely benign	8	43191612	43191612	Human	1	name
156365552	CV1908417	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-20G>A	Mucopolysaccharidosis, MPS-III-C [RCV002582037]	likely benign	8	43197820	43197820	Human	1	name
156414020	CV1915602	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+13C>A	Mucopolysaccharidosis, MPS-III-C [RCV002588358]	likely benign	8	43192443	43192443	Human	1	name
156130569	CV2037410	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-11A>G	Mucopolysaccharidosis, MPS-III-C [RCV002800597]	likely benign	8	43197829	43197829	Human	1	name
155936397	CV2114198	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+17T>C	Mucopolysaccharidosis, MPS-III-C [RCV002904167]	likely benign	8	43193860	43193860	Human	1	name
156377383	CV2189162	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+10C>T	Mucopolysaccharidosis, MPS-III-C [RCV003050221]	likely benign	8	43197962	43197962	Human	1	name
156144669	CV2190214	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+10C>A	Mucopolysaccharidosis, MPS-III-C [RCV003056315]	likely benign	8	43193853	43193853	Human	1	name
405006105	CV3082806	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-11C>T	Mucopolysaccharidosis, MPS-III-C [RCV003783906]	likely benign	8	43199377	43199377	Human	1	name
405007604	CV3083116	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+13C>T	Mucopolysaccharidosis, MPS-III-C [RCV003784063]	likely benign	8	43197965	43197965	Human	1	name
405010823	CV3083377	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+16G>A	Mucopolysaccharidosis, MPS-III-C [RCV003784324]	likely benign	8	43191611	43191611	Human	1	name
405025930	CV3085070	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+14A>G	Mucopolysaccharidosis, MPS-III-C [RCV003795936]	likely benign	8	43197966	43197966	Human	1	name
404999300	CV3085897	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-19C>T	Mucopolysaccharidosis, MPS-III-C [RCV003783267]	likely benign	8	43197653	43197653	Human	1	name
402518070	CV3086084	single nucleotide variant	NM_152419.3(HGSNAT):c.1012+14C>T	Mucopolysaccharidosis, MPS-III-C [RCV003780855]	likely benign	8	43178248	43178248	Human	1	name
404984628	CV3087284	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+11A>C	Mucopolysaccharidosis, MPS-III-C [RCV003781747]	likely benign	8	43193854	43193854	Human	1	name
404996621	CV3088531	deletion	NM_152419.3(HGSNAT):c.1465-19del	Mucopolysaccharidosis, MPS-III-C [RCV003793308]	likely benign	8	43196929	43196929	Human	1	name
404993464	CV3089056	deletion	NM_152419.3(HGSNAT):c.1251-12del	Mucopolysaccharidosis, MPS-III-C [RCV003782702]	benign	8	43192289	43192289	Human	1	name
404993561	CV3089067	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+14T>C	Mucopolysaccharidosis, MPS-III-C [RCV003782713]	likely benign	8	43191609	43191609	Human	1	name
402510245	CV3089202	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-18C>T	Mucopolysaccharidosis, MPS-III-C [RCV003780234]	likely benign	8	43196930	43196930	Human	1	name
402516983	CV3089893	duplication	NM_152419.3(HGSNAT):c.1250+19dup	Mucopolysaccharidosis, MPS-III-C [RCV003780771]	benign	8	43191609	43191610	Human	1	name
402503940	CV3090129	single nucleotide variant	NM_152419.3(HGSNAT):c.1128+13G>A	Mucopolysaccharidosis, MPS-III-C [RCV003788896]	likely benign	8	43182273	43182273	Human	1	name
402489833	CV3090920	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+14G>C	Mucopolysaccharidosis, MPS-III-C [RCV003787422]	likely benign	8	43192444	43192444	Human	1	name
402491790	CV3091110	single nucleotide variant	NM_152419.3(HGSNAT):c.1012+14C>A	Mucopolysaccharidosis, MPS-III-C [RCV003787615]	likely benign	8	43178248	43178248	Human	1	name
405018065	CV3091662	single nucleotide variant	NM_152419.3(HGSNAT):c.1012+15C>T	Mucopolysaccharidosis, MPS-III-C [RCV003795329]	likely benign	8	43178249	43178249	Human	1	name
402517692	CV3091752	single nucleotide variant	NM_152419.3(HGSNAT):c.1012+19T>C	Mucopolysaccharidosis, MPS-III-C [RCV003790198]	likely benign	8	43178253	43178253	Human	1	name
402521695	CV3092034	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+15A>T	Mucopolysaccharidosis, MPS-III-C [RCV003790480]	likely benign	8	43192445	43192445	Human	1	name
405028164	CV3094856	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+15A>G	Mucopolysaccharidosis, MPS-III-C [RCV003796218]	likely benign	8	43197967	43197967	Human	1	name
405056467	CV3095158	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-16C>T	Mucopolysaccharidosis, MPS-III-C [RCV003798472]	likely benign	8	43197824	43197824	Human	1	name
405002406	CV3095585	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-14T>C	Mucopolysaccharidosis, MPS-III-C [RCV003793889]	likely benign	8	43192290	43192290	Human	1	name
405003315	CV3095669	single nucleotide variant	NM_152419.3(HGSNAT):c.1543-10C>T	Mucopolysaccharidosis, MPS-III-C [RCV003793974]	likely benign	8	43197662	43197662	Human	1	name
405009925	CV3096582	single nucleotide variant	NM_152419.3(HGSNAT):c.1378-17T>C	Mucopolysaccharidosis, MPS-III-C [RCV003794571]	likely benign	8	43193740	43193740	Human	1	name
405010221	CV3096611	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-20T>C	Mucopolysaccharidosis, MPS-III-C [RCV003794600]	likely benign	8	43199368	43199368	Human	1	name
405024815	CV3097713	single nucleotide variant	NM_152419.3(HGSNAT):c.1128+11A>G	Mucopolysaccharidosis, MPS-III-C [RCV003806174]	likely benign	8	43182271	43182271	Human	1	name
405071105	CV3099845	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+15G>C	Mucopolysaccharidosis, MPS-III-C [RCV003799560]	likely benign	8	43191610	43191610	Human	1	name
405021259	CV3101284	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-15T>C	Mucopolysaccharidosis, MPS-III-C [RCV003805863]	likely benign	8	43196933	43196933	Human	1	name
404977363	CV3102672	single nucleotide variant	NM_152419.3(HGSNAT):c.1013-12T>C	Mucopolysaccharidosis, MPS-III-C [RCV003790766]	likely benign	8	43182133	43182133	Human	1	name
405151462	CV3105744	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+18G>A	Mucopolysaccharidosis, MPS-III-C [RCV003801461]	likely benign	8	43191613	43191613	Human	1	name
405014349	CV3106622	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+15A>G	Mucopolysaccharidosis, MPS-III-C [RCV003794959]	likely benign	8	43192445	43192445	Human	1	name
405058152	CV3108221	single nucleotide variant	NM_152419.3(HGSNAT):c.1128+14T>A	Mucopolysaccharidosis, MPS-III-C [RCV003808799]	likely benign	8	43182274	43182274	Human	1	name
405009992	CV3109117	single nucleotide variant	NM_152419.3(HGSNAT):c.1128+16T>C	Mucopolysaccharidosis, MPS-III-C [RCV003804785]	likely benign	8	43182276	43182276	Human	1	name
405157056	CV3109391	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-18C>G	Mucopolysaccharidosis, MPS-III-C [RCV003801915]	likely benign	8	43197822	43197822	Human	1	name
405160451	CV3109792	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+18T>G	Mucopolysaccharidosis, MPS-III-C [RCV003802151]	likely benign	8	43197970	43197970	Human	1	name
405154795	CV3110323	single nucleotide variant	NM_152419.3(HGSNAT):c.1377+11C>G	Mucopolysaccharidosis, MPS-III-C [RCV003817844]	likely benign	8	43192441	43192441	Human	1	name
405126894	CV3111995	single nucleotide variant	NM_152419.3(HGSNAT):c.1726+15A>C	Mucopolysaccharidosis, MPS-III-C [RCV003815468]	likely benign	8	43197967	43197967	Human	1	name
405108636	CV3112353	single nucleotide variant	NM_152419.3(HGSNAT):c.1250+10C>A	Mucopolysaccharidosis, MPS-III-C [RCV003813196]	likely benign	8	43191605	43191605	Human	1	name
597840988	CV3864596	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-12C>T	Mucopolysaccharidosis, MPS-III-C [RCV005211207]	likely benign	8	43197828	43197828	Human	1	name
597897543	CV3866184	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+16A>T	Mucopolysaccharidosis, MPS-III-C [RCV005219801]	likely benign	8	43193859	43193859	Human	1	name
597910100	CV3870884	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-16C>T	Mucopolysaccharidosis, MPS-III-C [RCV005221746]	likely benign	8	43192288	43192288	Human	1	name
597888445	CV3871140	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-11C>T	Mucopolysaccharidosis, MPS-III-C [RCV005218472]	likely benign	8	43191463	43191463	Human	1	name
597899291	CV3876185	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-17T>C	Mucopolysaccharidosis, MPS-III-C [RCV005220075]	likely benign	8	43197823	43197823	Human	1	name
14746354	CV663400	single nucleotide variant	NM_152419.3(HGSNAT):c.633+240T>G	not provided [RCV000844355]	benign	8	43169482	43169482	Human		name
15112940	CV775276	single nucleotide variant	NM_152419.3(HGSNAT):c.1012+10T>A	Mucopolysaccharidosis, MPS-III-C [RCV000939035]	likely benign	8	43178244	43178244	Human	1	name
15103670	CV775334	single nucleotide variant	NM_152419.3(HGSNAT):c.1614-10C>T	Mucopolysaccharidosis, MPS-III-C [RCV001275635]\|Mucopolysaccharidosis, MPS-III-C [RCV002068693]	likely benign\|uncertain significance	8	43197830	43197830	Human	1	name
38477139	CV940106	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-10T>C	Mucopolysaccharidosis, MPS-III-C [RCV001204954]\|Mucopolysaccharidosis, MPS-III-C [RCV001828645]	uncertain significance	8	43196938	43196938	Human	1	name
38597977	CV963083	single nucleotide variant	NM_152419.3(HGSNAT):c.493+809T>C	Mucopolysaccharidosis, MPS-III-C [RCV001251050]	pathogenic	8	43159853	43159853	Human	1	name
150405962	CV1190783	single nucleotide variant	NM_152419.3(HGSNAT):c.1727-106T>G	not provided [RCV001564527]	likely benign	8	43199282	43199282	Human		name
150464952	CV1200996	duplication	NM_152419.3(HGSNAT):c.1250+342dup	not provided [RCV001587476]	likely benign	8	43191927	43191928	Human		name
150459976	CV1203003	single nucleotide variant	NM_152419.3(HGSNAT):c.1464+145G>A	not provided [RCV001586656]	likely benign	8	43193988	43193988	Human		name
150433995	CV1243841	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-130C>T	not provided [RCV001665047]	benign	8	43192174	43192174	Human		name
150444317	CV1249399	duplication	NM_152419.3(HGSNAT):c.1464+216dup	not provided [RCV001666831]	benign	8	43194052	43194053	Human		name
150487882	CV1251589	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-289G>A	not provided [RCV001674260]	benign	8	43192015	43192015	Human		name
150498857	CV1270723	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-220A>G	not provided [RCV001689272]	benign	8	43192084	43192084	Human		name
405275484	CV3215945	single nucleotide variant	NM_152419.3(HGSNAT):c.1465-473T>C	HGSNAT-related disorder [RCV003952230]	likely benign	8	43196475	43196475	Human		name , trait , alternate_id
14746367	CV663358	single nucleotide variant	NM_152419.3(HGSNAT):c.1251-291G>C	not provided [RCV000844370]	benign	8	43192013	43192013	Human		name
14746365	CV663401	single nucleotide variant	NM_152419.3(HGSNAT):c.1129-222G>A	not provided [RCV000844368]	benign	8	43191252	43191252	Human		name
152038381	CV1642128	microsatellite	NM_152419.3(HGSNAT):c.1727-14TC[3]	Mucopolysaccharidosis, MPS-III-C [RCV002107367]	likely benign	8	43199374	43199375	Human		name
127334643	CV1139507	microsatellite	NM_152419.3(HGSNAT):c.744-5_744-3del	Mucopolysaccharidosis, MPS-III-C [RCV001490983]	likely benign	8	43172300	43172302	Human		name
402518084	CV3086085	microsatellite	NM_152419.3(HGSNAT):c.564-8_564-5del	Mucopolysaccharidosis, MPS-III-C [RCV003780856]	likely benign	8	43169158	43169161	Human		name
11655894	CV309284	deletion	NM_152419.3(HGSNAT):c.1100_1103del	Sanfilippo syndrome [RCV000329375]	uncertain significance	8	43200666	43200669	Human	1	name
597865949	CV3872594	deletion	NM_152419.3(HGSNAT):c.1129-11_1134del	Mucopolysaccharidosis, MPS-III-C [RCV005214869]	likely pathogenic	8	43191462	43191478	Human	1	name
34895539	CV917464	deletion	NM_152419.3(HGSNAT):c.118+67_118+90del	not specified [RCV001192637]	uncertain significance	8	43140671	43140694	Human		name
150502002	CV1255172	deletion	NM_152419.3(HGSNAT):c.564-112_564-109del	not provided [RCV001677091]	benign	8	43169058	43169061	Human		name
156445330	CV1945411	microsatellite	NM_152419.3(HGSNAT):c.1464+14_1464+18del	Mucopolysaccharidosis, MPS-III-C [RCV003116271]	likely benign	8	43193851	43193855	Human		name
405011410	CV3113917	deletion	NM_152419.3(HGSNAT):c.1013-15_1013-14del	Mucopolysaccharidosis, MPS-III-C [RCV003804939]	likely benign	8	43182130	43182131	Human	1	name
155989098	CV2026829	indel	NM_152419.3(HGSNAT):c.1465-4_1465-3delinsGA	Mucopolysaccharidosis, MPS-III-C [RCV002755670]	uncertain significance	8	43196944	43196945	Human		name
13519617	CV487394	duplication	NM_152419.2(HGSNAT):c.-115_-101dupTCAGGCGGCGGTGAC	not specified [RCV000780344]	uncertain significance	8	43140373	43140374	Human		name
151755061	CV1453920	indel	NM_152419.3(HGSNAT):c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG	Mucopolysaccharidosis, MPS-III-C [RCV001913369]	uncertain significance	8	43197652	43197665	Human		name
127272954	CV1097074	single nucleotide variant	NM_152419.3(HGSNAT):c.666C>T (p.Leu222=)	HGSNAT-related disorder [RCV004751982]\|Mucopolysaccharidosis, MPS-III-C [RCV001442379]	likely benign	8	43170617	43170617	Human	2	name , alternate_id
127327975	CV1118619	single nucleotide variant	NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)	HGSNAT-related disorder [RCV003965938]\|Mucopolysaccharidosis, MPS-III-C [RCV001469370]	likely benign	8	43158628	43158628	Human	2	name , alternate_id
127299635	CV1118626	single nucleotide variant	NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)	HGSNAT-related disorder [RCV003938852]\|Mucopolysaccharidosis, MPS-III-C [RCV001478247]	likely benign	8	43173732	43173732	Human	2	name , alternate_id
151741143	CV1404826	single nucleotide variant	NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)	HGSNAT-related disorder [RCV004752078]\|Mucopolysaccharidosis, MPS-III-C [RCV001947112]	uncertain significance	8	43178217	43178217	Human	2	alternate_id
10401627	CV205377	single nucleotide variant	NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	HGSNAT-related disorder [RCV003407694]\|Mucopolysaccharidosis, MPS-III-C [RCV000190845]\|Mucopolysaccharidosis, MPS-III-C [RCV001082167]\|Retinal dystrophy [RCV000504631]\|Retinitis pigmentosa 73 [RCV000190844]\|Retinitis pigmentosa [RCV001003049]\|not provided [RCV00 ... (more) 0224674]\|not specified [RCV000507277]	pathogenic\|likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	43199504	43199504	Human	6	alternate_id
10401628	CV205378	single nucleotide variant	NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)	HGSNAT-related disorder [RCV003417693]\|Mucopolysaccharidosis, MPS-III-C [RCV000190846]\|Mucopolysaccharidosis, MPS-III-C [RCV002500583]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	43191554	43191554	Human	2	alternate_id
401934716	CV2802777	duplication	NM_152419.3(HGSNAT):c.416dup (p.Asn141fs)	HGSNAT-related disorder [RCV003412142]	likely pathogenic	8	43158966	43158967	Human		name , trait , alternate_id
11646964	CV314506	single nucleotide variant	NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)	HGSNAT-related disorder [RCV003932503]\|Mucopolysaccharidosis, MPS-III-C [RCV000273849]\|Mucopolysaccharidosis, MPS-III-C [RCV001083544]\|not provided [RCV000675862]\|not specified [RCV001699401]	benign\|likely benign\|uncertain significance	8	43140604	43140604	Human	2	name , alternate_id
408377575	CV3509541	single nucleotide variant	NM_152419.3(HGSNAT):c.1375G>A (p.Ala459Thr)	HGSNAT-related disorder [RCV004751091]	uncertain significance	8	43192428	43192428	Human		trait , alternate_id
408378803	CV3516351	single nucleotide variant	NM_152419.3(HGSNAT):c.1029G>A (p.Val343=)	HGSNAT-related disorder [RCV004752447]	likely benign	8	43182161	43182161	Human		name , trait , alternate_id
12898892	CV407394	single nucleotide variant	NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)	HGSNAT-related disorder [RCV004751559]\|Inborn genetic diseases [RCV002526563]\|Intellectual disability [RCV001252520]\|Mucopolysaccharidosis, MPS-III-C [RCV000625332]\|Mucopolysaccharidosis, MPS-III-C [RCV000802522]\|Retinal dystrophy [RCV004816691]\|not provided [RC ... (more) V000478941]\|not specified [RCV002271509]	likely benign\|uncertain significance	8	43199541	43199541	Human	7	alternate_id
15148850	CV711545	single nucleotide variant	NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)	HGSNAT-related disorder [RCV003905933]\|Mucopolysaccharidosis, MPS-III-C [RCV000967634]\|Mucopolysaccharidosis, MPS-III-C [RCV001159323]\|Retinal dystrophy [RCV003890124]	benign\|likely benign	8	43170640	43170640	Human	4	alternate_id
15157528	CV723110	single nucleotide variant	NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)	HGSNAT-related disorder [RCV003948307]\|Mucopolysaccharidosis, MPS-III-C [RCV000880835]\|Mucopolysaccharidosis, MPS-III-C [RCV001275629]\|not specified [RCV001805927]	benign\|likely benign	8	43173720	43173720	Human	2	name , alternate_id
15103318	CV723113	single nucleotide variant	NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)	HGSNAT-related disorder [RCV003950410]\|Inborn genetic diseases [RCV004028422]\|Mucopolysaccharidosis, MPS-III-C [RCV000892647]\|Mucopolysaccharidosis, MPS-III-C [RCV001275632]\|Retinal dystrophy [RCV003890021]\|not provided [RCV004792572]\|not specified [RCV003994149 ... (more) ]	benign\|likely benign\|uncertain significance	8	43191595	43191595	Human	5	alternate_id
15107181	CV723114	single nucleotide variant	NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)	HGSNAT-related disorder [RCV003957995]\|Mucopolysaccharidosis, MPS-III-C [RCV000893424]\|Mucopolysaccharidosis, MPS-III-C [RCV001825800]	likely benign	8	43199413	43199413	Human	2	name , alternate_id
15103323	CV723115	single nucleotide variant	NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)	HGSNAT-related disorder [RCV003940720]\|Inborn genetic diseases [RCV002540108]\|Mucopolysaccharidosis, MPS-III-C [RCV000892648]\|Mucopolysaccharidosis, MPS-III-C [RCV001275637]\|not provided [RCV004792573]\|not specified [RCV003994150]	likely benign\|uncertain significance	8	43199420	43199420	Human	3	alternate_id
15170174	CV751178	single nucleotide variant	NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=)	HGSNAT-related disorder [RCV003903069]\|Mucopolysaccharidosis, MPS-III-C [RCV000927644]	likely benign	8	43197861	43197861	Human	2	name , alternate_id
26916988	CV834786	single nucleotide variant	NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)	HGSNAT-related disorder [RCV003963005]\|Mucopolysaccharidosis, MPS-III-C [RCV001042356]\|Mucopolysaccharidosis, MPS-III-C [RCV001275630]\|Retinal dystrophy [RCV004813581]\|Retinitis pigmentosa 73 [RCV001250771]\|not specified [RCV004768802]	likely pathogenic\|uncertain significance	8	43178109	43178109	Human	4	name , alternate_id
38478522	CV934321	single nucleotide variant	NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)	HGSNAT-related disorder [RCV004751914]\|Inborn genetic diseases [RCV004033651]\|Mucopolysaccharidosis, MPS-III-C [RCV001205587]\|Mucopolysaccharidosis, MPS-III-C [RCV001836137]	uncertain significance	8	43170642	43170642	Human	3	name , alternate_id
38499012	CV955422	single nucleotide variant	NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)	HGSNAT-related disorder [RCV004751938]\|Inborn genetic diseases [RCV002568577]\|Mucopolysaccharidosis, MPS-III-C [RCV001244177]\|Mucopolysaccharidosis, MPS-III-C [RCV001829921]\|not provided [RCV003481024]	uncertain significance	8	43140528	43140528	Human	3	name , alternate_id
152085632	CV1617350	single nucleotide variant	NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)	Mucopolysaccharidosis, MPS-III-C [RCV002076945]	likely benign	8	43140502	43140502	Human	1	name
404978611	CV3099069	single nucleotide variant	NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)	Mucopolysaccharidosis, MPS-III-C [RCV003791049]	likely benign	8	43140505	43140505	Human	1	name
127310475	CV1139493	single nucleotide variant	NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)	Mucopolysaccharidosis, MPS-III-C [RCV001481147]	likely benign	8	43140508	43140508	Human	1	name
152109006	CV1563803	single nucleotide variant	NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)	Mucopolysaccharidosis, MPS-III-C [RCV002174088]	likely benign	8	43140517	43140517	Human	1	name
152121081	CV1574387	single nucleotide variant	NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)	Mucopolysaccharidosis, MPS-III-C [RCV002175586]	likely benign	8	43140523	43140523	Human	1	name
152150595	CV1661554	single nucleotide variant	NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)	Mucopolysaccharidosis, MPS-III-C [RCV002179387]	likely benign	8	43140508	43140508	Human	1	name
402504592	CV3088750	single nucleotide variant	NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)	Mucopolysaccharidosis, MPS-III-C [RCV003779459]	likely benign	8	43140514	43140514	Human	1	name
597879447	CV3872046	single nucleotide variant	NM_152419.3(HGSNAT):c.22C>T (p.Leu8=)	Mucopolysaccharidosis, MPS-III-C [RCV005217098]	likely benign	8	43140518	43140518	Human	1	name
15117852	CV766827	single nucleotide variant	NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)	Mucopolysaccharidosis, MPS-III-C [RCV000939905]\|Mucopolysaccharidosis, MPS-III-C [RCV001273608]	likely benign\|uncertain significance	8	43140508	43140508	Human	1	name
126770285	CV1028559	single nucleotide variant	NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)	Mucopolysaccharidosis, MPS-III-C [RCV001344388]	uncertain significance	8	43140503	43140503	Human	1	name
127279617	CV1075389	single nucleotide variant	NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)	Mucopolysaccharidosis, MPS-III-C [RCV001409245]\|Mucopolysaccharidosis, MPS-III-C [RCV001831443]	likely benign	8	43140535	43140535	Human	1	name
127258691	CV1075390	single nucleotide variant	NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)	Mucopolysaccharidosis, MPS-III-C [RCV001419602]	likely benign	8	43140544	43140544	Human	1	name
127283450	CV1075391	single nucleotide variant	NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)	Mucopolysaccharidosis, MPS-III-C [RCV001411820]	likely benign	8	43140562	43140562	Human	1	name
127236074	CV1075392	single nucleotide variant	NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)	Mucopolysaccharidosis, MPS-III-C [RCV001392011]	likely benign	8	43140568	43140568	Human	1	name
127275804	CV1097061	single nucleotide variant	NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)	Mucopolysaccharidosis, MPS-III-C [RCV001432523]	likely benign	8	43140541	43140541	Human	1	name
127257393	CV1097062	single nucleotide variant	NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)	Mucopolysaccharidosis, MPS-III-C [RCV001427103]\|Mucopolysaccharidosis, MPS-III-C [RCV001836400]\|Retinal dystrophy [RCV003888134]	likely benign	8	43140556	43140556	Human	3	name
127268619	CV1097063	single nucleotide variant	NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)	Mucopolysaccharidosis, MPS-III-C [RCV001440833]	likely benign	8	43140586	43140586	Human	1	name
127319376	CV1118612	single nucleotide variant	NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)	Mucopolysaccharidosis, MPS-III-C [RCV001466525]	likely benign	8	43140586	43140586	Human	1	name
127324138	CV1139494	single nucleotide variant	NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)	Mucopolysaccharidosis, MPS-III-C [RCV001485410]	likely benign	8	43140565	43140565	Human	1	name
127315897	CV1139495	single nucleotide variant	NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)	Mucopolysaccharidosis, MPS-III-C [RCV001502864]	likely benign	8	43140574	43140574	Human	1	name
152171719	CV1575590	single nucleotide variant	NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)	Mucopolysaccharidosis, MPS-III-C [RCV002183594]	likely benign	8	43140541	43140541	Human	1	name
152127623	CV1598578	single nucleotide variant	NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)	Mucopolysaccharidosis, MPS-III-C [RCV002155088]	likely benign	8	43140563	43140563	Human	1	name
152035484	CV1604179	single nucleotide variant	NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)	Mucopolysaccharidosis, MPS-III-C [RCV002087136]	likely benign	8	43140533	43140533	Human	1	name
152122795	CV1613603	single nucleotide variant	NM_152419.3(HGSNAT):c.99C>A (p.Ala33=)	Mucopolysaccharidosis, MPS-III-C [RCV002081788]	likely benign	8	43140595	43140595	Human	1	name
152164231	CV1619733	single nucleotide variant	NM_152419.3(HGSNAT):c.51G>A (p.Val17=)	Mucopolysaccharidosis, MPS-III-C [RCV002181493]	likely benign	8	43140547	43140547	Human	1	name
152165867	CV1661045	single nucleotide variant	NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)	Mucopolysaccharidosis, MPS-III-C [RCV002124106]	likely benign	8	43140560	43140560	Human	1	name
156352048	CV1870203	single nucleotide variant	NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)	Mucopolysaccharidosis, MPS-III-C [RCV003064933]	likely benign	8	43140595	43140595	Human	1	name
156021674	CV1882375	single nucleotide variant	NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)	Mucopolysaccharidosis, MPS-III-C [RCV003077651]	likely benign	8	43140538	43140538	Human	1	name
155956897	CV1903568	single nucleotide variant	NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)	Mucopolysaccharidosis, MPS-III-C [RCV003095635]	uncertain significance	8	43140504	43140504	Human	1	name
155993639	CV2023443	single nucleotide variant	NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)	Mucopolysaccharidosis, MPS-III-C [RCV002755860]	likely benign	8	43140544	43140544	Human	1	name
155994829	CV2023531	single nucleotide variant	NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)	Mucopolysaccharidosis, MPS-III-C [RCV002755913]	likely benign	8	43140538	43140538	Human	1	name
156013865	CV2038490	single nucleotide variant	NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)	Mucopolysaccharidosis, MPS-III-C [RCV002780290]	likely benign	8	43140589	43140589	Human	1	name
155929650	CV2041745	single nucleotide variant	NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)	Inborn genetic diseases [RCV002751092]\|Mucopolysaccharidosis, MPS-III-C [RCV002751093]	benign\|uncertain significance	8	43140502	43140502	Human	2	name
155978469	CV2073227	deletion	NM_152419.3(HGSNAT):c.10del (p.Ala4fs)	Mucopolysaccharidosis, MPS-III-C [RCV002842403]	pathogenic	8	43140503	43140503	Human	1	name
156075039	CV2102172	single nucleotide variant	NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)	Mucopolysaccharidosis, MPS-III-C [RCV002912509]	likely benign	8	43140571	43140571	Human	1	name
405021328	CV3085635	single nucleotide variant	NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)	Mucopolysaccharidosis, MPS-III-C [RCV003785358]	likely benign	8	43140577	43140577	Human	1	name
402507792	CV3090660	single nucleotide variant	NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)	Mucopolysaccharidosis, MPS-III-C [RCV003789276]	likely benign	8	43140589	43140589	Human	1	name
404979447	CV3099421	single nucleotide variant	NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)	Mucopolysaccharidosis, MPS-III-C [RCV003791249]	likely benign	8	43140530	43140530	Human	1	name
405064080	CV3103097	single nucleotide variant	NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)	Mucopolysaccharidosis, MPS-III-C [RCV003799088]	likely benign	8	43140550	43140550	Human	1	name
405016299	CV3106931	single nucleotide variant	NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)	Mucopolysaccharidosis, MPS-III-C [RCV003795101]\|Retinal dystrophy [RCV003889341]	likely pathogenic\|likely benign	8	43140526	43140526	Human	3	name
405128112	CV3112133	single nucleotide variant	NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)	Mucopolysaccharidosis, MPS-III-C [RCV003815607]	likely benign	8	43140553	43140553	Human	1	name
597853551	CV3869782	single nucleotide variant	NM_152419.3(HGSNAT):c.66G>C (p.Leu22=)	Mucopolysaccharidosis, MPS-III-C [RCV005213067]	likely benign	8	43140562	43140562	Human	1	name
15110706	CV766828	single nucleotide variant	NM_152419.3(HGSNAT):c.87G>C (p.Ser29=)	Mucopolysaccharidosis, MPS-III-C [RCV000938603]	likely benign	8	43140583	43140583	Human	1	name
15136345	CV766829	single nucleotide variant	NM_152419.3(HGSNAT):c.99C>G (p.Ala33=)	Mucopolysaccharidosis, MPS-III-C [RCV001485239]	likely benign	8	43140595	43140595	Human	1	name
28867959	CV899646	single nucleotide variant	NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)	Mucopolysaccharidosis, MPS-III-C [RCV001162199]\|Mucopolysaccharidosis, MPS-III-C [RCV001515411]	benign	8	43140559	43140559	Human	1	name
126757380	CV1028561	single nucleotide variant	NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)	Mucopolysaccharidosis, MPS-III-C [RCV001339549]\|Mucopolysaccharidosis, MPS-III-C [RCV001830413]	likely benign\|uncertain significance	8	43147033	43147033	Human	1	name
127246453	CV1075393	single nucleotide variant	NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)	Mucopolysaccharidosis, MPS-III-C [RCV001398972]	likely benign	8	43146997	43146997	Human	1	name
127244820	CV1075394	single nucleotide variant	NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)	Mucopolysaccharidosis, MPS-III-C [RCV001393772]	likely benign	8	43158634	43158634	Human	1	name
127245581	CV1097065	single nucleotide variant	NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)	Mucopolysaccharidosis, MPS-III-C [RCV001435239]	likely benign	8	43146961	43146961	Human	1	name
127284183	CV1097066	single nucleotide variant	NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)	Mucopolysaccharidosis, MPS-III-C [RCV001449060]	likely benign	8	43147039	43147039	Human	1	name
127333404	CV1118613	single nucleotide variant	NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)	Mucopolysaccharidosis, MPS-III-C [RCV001472920]	likely benign	8	43146973	43146973	Human	1	name
127310260	CV1118614	single nucleotide variant	NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)	Mucopolysaccharidosis, MPS-III-C [RCV001463818]	likely benign	8	43158580	43158580	Human	1	name
127311847	CV1118615	single nucleotide variant	NM_152419.3(HGSNAT):c.249T>C (p.Val83=)	Mucopolysaccharidosis, MPS-III-C [RCV001464239]	likely benign	8	43158589	43158589	Human	1	name
127299711	CV1118616	single nucleotide variant	NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)	Mucopolysaccharidosis, MPS-III-C [RCV001478271]\|Retinal dystrophy [RCV003888203]	likely benign	8	43158598	43158598	Human	3	name
127305507	CV1118617	single nucleotide variant	NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)	Mucopolysaccharidosis, MPS-III-C [RCV001462499]	likely benign	8	43158613	43158613	Human	1	name
127336021	CV1118618	single nucleotide variant	NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)	Mucopolysaccharidosis, MPS-III-C [RCV001474713]	likely benign	8	43158622	43158622	Human	1	name
150542457	CV1314800	duplication	NM_152419.3(HGSNAT):c.90dup (p.Arg31fs)	Mucopolysaccharidosis, MPS-III-C [RCV003772151]\|not provided [RCV001782251]	pathogenic\|likely pathogenic	8	43140582	43140583	Human	1	name
151789612	CV1397002	single nucleotide variant	NM_152419.3(HGSNAT):c.279A>G (p.Ala93=)	Mucopolysaccharidosis, MPS-III-C [RCV001951922]	likely benign	8	43158619	43158619	Human	1	name
151814638	CV1491341	single nucleotide variant	NM_152419.3(HGSNAT):c.195C>T (p.Thr65=)	Mucopolysaccharidosis, MPS-III-C [RCV001975115]	likely benign	8	43147024	43147024	Human	1	name
151890058	CV1514530	single nucleotide variant	NM_152419.3(HGSNAT):c.117A>C (p.Arg39=)	Mucopolysaccharidosis, MPS-III-C [RCV001963554]	uncertain significance	8	43140613	43140613	Human	1	name
152071780	CV1544039	single nucleotide variant	NM_152419.3(HGSNAT):c.183A>G (p.Glu61=)	Mucopolysaccharidosis, MPS-III-C [RCV002169389]	likely benign	8	43147012	43147012	Human	1	name
152173834	CV1567278	single nucleotide variant	NM_152419.3(HGSNAT):c.264T>C (p.Pro88=)	Mucopolysaccharidosis, MPS-III-C [RCV002144243]	likely benign	8	43158604	43158604	Human	1	name
152116463	CV1569585	single nucleotide variant	NM_152419.3(HGSNAT):c.261T>A (p.Val87=)	Mucopolysaccharidosis, MPS-III-C [RCV002117256]	likely benign	8	43158601	43158601	Human	1	name
152147216	CV1615602	single nucleotide variant	NM_152419.3(HGSNAT):c.291T>C (p.Ser97=)	Mucopolysaccharidosis, MPS-III-C [RCV002101661]	likely benign	8	43158631	43158631	Human	1	name
152055969	CV1662778	single nucleotide variant	NM_152419.3(HGSNAT):c.261T>C (p.Val87=)	Mucopolysaccharidosis, MPS-III-C [RCV002146230]	likely benign	8	43158601	43158601	Human	1	name
156046091	CV1868720	single nucleotide variant	NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)	Mucopolysaccharidosis, MPS-III-C [RCV003052831]	benign	8	43140506	43140506	Human	1	name
156381275	CV1873650	single nucleotide variant	NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)	Mucopolysaccharidosis, MPS-III-C [RCV003067187]	likely benign	8	43147000	43147000	Human	1	name
156418846	CV1918845	single nucleotide variant	NM_152419.3(HGSNAT):c.138T>C (p.His46=)	Mucopolysaccharidosis, MPS-III-C [RCV002612056]	likely benign	8	43146967	43146967	Human	1	name
156446517	CV1947862	single nucleotide variant	NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)	Mucopolysaccharidosis, MPS-III-C [RCV003118024]	likely benign	8	43147009	43147009	Human	1	name
156239066	CV2047257	single nucleotide variant	NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)	Mucopolysaccharidosis, MPS-III-C [RCV002805608]	likely benign	8	43140601	43140601	Human	1	name
156315496	CV2085997	single nucleotide variant	NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)	Mucopolysaccharidosis, MPS-III-C [RCV002898966]	likely benign	8	43140601	43140601	Human	1	name
156034936	CV2123139	single nucleotide variant	NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)	Inborn genetic diseases [RCV004068285]\|Mucopolysaccharidosis, MPS-III-C [RCV002949389]	uncertain significance	8	43140510	43140510	Human	2	name
329953847	CV2669184	single nucleotide variant	NM_152419.3(HGSNAT):c.20C>T (p.Ala7Val)	not provided [RCV003231688]	uncertain significance	8	43140516	43140516	Human		name
405021797	CV3088126	single nucleotide variant	NM_152419.3(HGSNAT):c.255A>G (p.Val85=)	Mucopolysaccharidosis, MPS-III-C [RCV003795686]	likely benign	8	43158595	43158595	Human	1	name
11653638	CV309247	single nucleotide variant	NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)	Mucopolysaccharidosis, MPS-III-C [RCV000312412]\|Mucopolysaccharidosis, MPS-III-C [RCV002523684]	likely benign\|uncertain significance	8	43140607	43140607	Human	1	name
405001463	CV3095494	single nucleotide variant	NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)	Mucopolysaccharidosis, MPS-III-C [RCV003793797]	likely benign	8	43146997	43146997	Human	1	name
404978585	CV3099063	single nucleotide variant	NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)	Mucopolysaccharidosis, MPS-III-C [RCV003791043]	likely benign	8	43140598	43140598	Human	1	name
405045229	CV3103904	single nucleotide variant	NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)	Mucopolysaccharidosis, MPS-III-C [RCV003797622]	likely benign	8	43140611	43140611	Human	1	name
405081058	CV3114860	single nucleotide variant	NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)	Mucopolysaccharidosis, MPS-III-C [RCV003810423]	likely benign	8	43147015	43147015	Human	1	name
11609607	CV314589	single nucleotide variant	NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)	Inborn genetic diseases [RCV004022074]\|Mucopolysaccharidosis, MPS-III-C [RCV000370676]\|Mucopolysaccharidosis, MPS-III-C [RCV000907228]\|Retinal dystrophy [RCV003889869]	likely pathogenic\|likely benign\|uncertain significance	8	43140513	43140513	Human	4	name
597652460	CV3722779	duplication	NM_152419.3(HGSNAT):c.61dup (p.Ala21fs)	Mucopolysaccharidosis, MPS-III-C [RCV005041220]	likely pathogenic	8	43140556	43140557	Human	1	name
597735916	CV3722780	deletion	NM_152419.3(HGSNAT):c.65del (p.Leu22fs)	Mucopolysaccharidosis, MPS-III-C [RCV005051631]	pathogenic\|likely pathogenic	8	43140561	43140561	Human	1	name
597922415	CV3867292	single nucleotide variant	NM_152419.3(HGSNAT):c.189C>G (p.Leu63=)	Mucopolysaccharidosis, MPS-III-C [RCV005223718]	likely benign	8	43147018	43147018	Human	1	name
14689760	CV621282	single nucleotide variant	NM_152419.3(HGSNAT):c.204C>T (p.Thr68=)	Mucopolysaccharidosis, MPS-III-C [RCV000972777]\|not specified [RCV000780342]	benign	8	43147033	43147033	Human	1	name
15182841	CV711544	single nucleotide variant	NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)	Mucopolysaccharidosis, MPS-III-C [RCV000974734]\|Mucopolysaccharidosis, MPS-III-C [RCV001275624]	likely benign\|uncertain significance	8	43147028	43147028	Human	1	name
15149889	CV736686	single nucleotide variant	NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)	Mucopolysaccharidosis, MPS-III-C [RCV000901032]\|Mucopolysaccharidosis, MPS-III-C [RCV001279457]	likely benign	8	43158625	43158625	Human	1	name
15187343	CV766830	single nucleotide variant	NM_152419.3(HGSNAT):c.108G>C (p.Ala36=)	Mucopolysaccharidosis, MPS-III-C [RCV001496756]	likely benign	8	43140604	43140604	Human	1	name
15142065	CV766831	single nucleotide variant	NM_152419.3(HGSNAT):c.186T>C (p.Leu62=)	Mucopolysaccharidosis, MPS-III-C [RCV000944011]	likely benign	8	43147015	43147015	Human	1	name
15101205	CV783114	single nucleotide variant	NM_152419.3(HGSNAT):c.279A>C (p.Ala93=)	Mucopolysaccharidosis, MPS-III-C [RCV001502427]	likely benign	8	43158619	43158619	Human	1	name
38487267	CV934319	single nucleotide variant	NM_152419.3(HGSNAT):c.234C>T (p.His78=)	Mucopolysaccharidosis, MPS-III-C [RCV001209242]\|Mucopolysaccharidosis, MPS-III-C [RCV001828679]	uncertain significance	8	43147063	43147063	Human	1	name
126744587	CV1028560	single nucleotide variant	NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)	Mucopolysaccharidosis, MPS-III-C [RCV001351299]	uncertain significance	8	43140594	43140594	Human	1	name
127272540	CV1061346	duplication	NM_152419.3(HGSNAT):c.133dup (p.Arg45fs)	Mucopolysaccharidosis, MPS-III-C [RCV001390498]	pathogenic	8	43146955	43146956	Human	1	name
127283469	CV1075395	single nucleotide variant	NM_152419.3(HGSNAT):c.411C>G (p.Leu137=)	Mucopolysaccharidosis, MPS-III-C [RCV001411839]	likely benign	8	43158962	43158962	Human	1	name
127275214	CV1075396	single nucleotide variant	NM_152419.3(HGSNAT):c.411C>T (p.Leu137=)	Mucopolysaccharidosis, MPS-III-C [RCV001406650]	likely benign	8	43158962	43158962	Human	1	name
127230098	CV1075397	single nucleotide variant	NM_152419.3(HGSNAT):c.412T>C (p.Leu138=)	Mucopolysaccharidosis, MPS-III-C [RCV001412346]	likely benign	8	43158963	43158963	Human	1	name
127250595	CV1075399	single nucleotide variant	NM_152419.3(HGSNAT):c.558G>A (p.Leu186=)	Mucopolysaccharidosis, MPS-III-C [RCV001399906]	likely benign	8	43161502	43161502	Human	1	name
127231829	CV1075403	single nucleotide variant	NM_152419.3(HGSNAT):c.711G>A (p.Pro237=)	Mucopolysaccharidosis, MPS-III-C [RCV001413232]	likely benign	8	43170662	43170662	Human	1	name
127282546	CV1075404	single nucleotide variant	NM_152419.3(HGSNAT):c.720C>T (p.Leu240=)	Mucopolysaccharidosis, MPS-III-C [RCV001411181]	likely benign	8	43170671	43170671	Human	1	name
127231989	CV1075408	single nucleotide variant	NM_152419.3(HGSNAT):c.885A>G (p.Leu295=)	Mucopolysaccharidosis, MPS-III-C [RCV001413276]\|not provided [RCV004706120]	likely benign	8	43178107	43178107	Human	1	name
127282525	CV1075409	single nucleotide variant	NM_152419.3(HGSNAT):c.951G>A (p.Arg317=)	Mucopolysaccharidosis, MPS-III-C [RCV001411169]	likely benign	8	43178173	43178173	Human	1	name
127239225	CV1097067	single nucleotide variant	NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)	Mucopolysaccharidosis, MPS-III-C [RCV001423083]	likely benign	8	43158646	43158646	Human	1	name
127274931	CV1097068	single nucleotide variant	NM_152419.3(HGSNAT):c.339G>A (p.Leu113=)	Mucopolysaccharidosis, MPS-III-C [RCV001443090]	likely benign	8	43158679	43158679	Human	1	name
127251247	CV1097069	single nucleotide variant	NM_152419.3(HGSNAT):c.366T>G (p.Val122=)	Mucopolysaccharidosis, MPS-III-C [RCV001425524]	likely benign	8	43158706	43158706	Human	1	name
127269380	CV1097070	single nucleotide variant	NM_152419.3(HGSNAT):c.369T>C (p.Cys123=)	Mucopolysaccharidosis, MPS-III-C [RCV001430262]	likely benign	8	43158709	43158709	Human	1	name
127276788	CV1097071	single nucleotide variant	NM_152419.3(HGSNAT):c.483T>C (p.Asp161=)	Mucopolysaccharidosis, MPS-III-C [RCV001432959]	likely benign	8	43159034	43159034	Human	1	name
127243784	CV1097072	single nucleotide variant	NM_152419.3(HGSNAT):c.495T>C (p.Pro165=)	Mucopolysaccharidosis, MPS-III-C [RCV001424015]	likely benign	8	43161439	43161439	Human	1	name
127267554	CV1097075	single nucleotide variant	NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)	Mucopolysaccharidosis, MPS-III-C [RCV001429737]	likely benign	8	43170641	43170641	Human	1	name
127332159	CV1118620	single nucleotide variant	NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)	Mucopolysaccharidosis, MPS-III-C [RCV001472065]	likely benign	8	43158655	43158655	Human	1	name
127300191	CV1118622	single nucleotide variant	NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=)	Mucopolysaccharidosis, MPS-III-C [RCV001453798]	likely benign	8	43158956	43158956	Human	1	name
127290873	CV1118623	single nucleotide variant	NM_152419.3(HGSNAT):c.708G>A (p.Leu236=)	Mucopolysaccharidosis, MPS-III-C [RCV001451360]	likely benign	8	43170659	43170659	Human	1	name
127298818	CV1118624	single nucleotide variant	NM_152419.3(HGSNAT):c.726C>T (p.Ser242=)	Mucopolysaccharidosis, MPS-III-C [RCV001453443]	likely benign	8	43170677	43170677	Human	1	name
127290306	CV1118627	single nucleotide variant	NM_152419.3(HGSNAT):c.849G>A (p.Pro283=)	Mucopolysaccharidosis, MPS-III-C [RCV001458403]	likely benign	8	43173741	43173741	Human	1	name
127320474	CV1118628	single nucleotide variant	NM_152419.3(HGSNAT):c.933G>T (p.Leu311=)	Mucopolysaccharidosis, MPS-III-C [RCV001466924]	likely benign	8	43178155	43178155	Human	1	name
127314148	CV1139497	single nucleotide variant	NM_152419.3(HGSNAT):c.453T>C (p.Cys151=)	Mucopolysaccharidosis, MPS-III-C [RCV001502393]	likely benign	8	43159004	43159004	Human	1	name
127309194	CV1139498	single nucleotide variant	NM_152419.3(HGSNAT):c.543C>T (p.Ser181=)	Mucopolysaccharidosis, MPS-III-C [RCV001480778]	likely benign	8	43161487	43161487	Human	1	name
127310477	CV1139499	single nucleotide variant	NM_152419.3(HGSNAT):c.559T>C (p.Leu187=)	Mucopolysaccharidosis, MPS-III-C [RCV001481148]	likely benign	8	43161503	43161503	Human	1	name
127289082	CV1139502	single nucleotide variant	NM_152419.3(HGSNAT):c.654G>A (p.Arg218=)	Mucopolysaccharidosis, MPS-III-C [RCV001495514]	likely benign	8	43170605	43170605	Human	1	name
127329277	CV1139503	single nucleotide variant	NM_152419.3(HGSNAT):c.672T>C (p.Gly224=)	Mucopolysaccharidosis, MPS-III-C [RCV001487328]	likely benign	8	43170623	43170623	Human	1	name
127309971	CV1139504	single nucleotide variant	NM_152419.3(HGSNAT):c.672T>G (p.Gly224=)	Mucopolysaccharidosis, MPS-III-C [RCV001501199]	likely benign	8	43170623	43170623	Human	1	name
127326060	CV1139505	single nucleotide variant	NM_152419.3(HGSNAT):c.675T>C (p.Asp225=)	Mucopolysaccharidosis, MPS-III-C [RCV001485942]	likely benign	8	43170626	43170626	Human	1	name
127331327	CV1139506	single nucleotide variant	NM_152419.3(HGSNAT):c.735C>G (p.Thr245=)	Mucopolysaccharidosis, MPS-III-C [RCV001488721]	likely benign	8	43170686	43170686	Human	1	name
127318903	CV1139508	single nucleotide variant	NM_152419.3(HGSNAT):c.768T>C (p.Phe256=)	Mucopolysaccharidosis, MPS-III-C [RCV001503865]	likely benign	8	43172334	43172334	Human	1	name
127319350	CV1139509	single nucleotide variant	NM_152419.3(HGSNAT):c.945A>G (p.Ala315=)	Mucopolysaccharidosis, MPS-III-C [RCV001483829]	likely benign	8	43178167	43178167	Human	1	name
127332391	CV1139510	single nucleotide variant	NM_152419.3(HGSNAT):c.987G>C (p.Val329=)	Mucopolysaccharidosis, MPS-III-C [RCV001489459]	likely benign	8	43178209	43178209	Human	1	name
151854383	CV1344336	single nucleotide variant	NM_152419.3(HGSNAT):c.777T>C (p.Tyr259=)	Mucopolysaccharidosis, MPS-III-C [RCV001923210]	likely benign	8	43172343	43172343	Human	1	name
151724962	CV1351025	single nucleotide variant	NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)	Mucopolysaccharidosis, MPS-III-C [RCV001891601]	uncertain significance	8	43140570	43140570	Human	1	name
151877709	CV1361471	single nucleotide variant	NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)	Inborn genetic diseases [RCV004631820]\|Mucopolysaccharidosis, MPS-III-C [RCV001926034]	uncertain significance	8	43140578	43140578	Human	2	name
151863697	CV1374470	single nucleotide variant	NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)	Mucopolysaccharidosis, MPS-III-C [RCV001884272]	uncertain significance	8	43140537	43140537	Human	1	name
151843566	CV1499753	single nucleotide variant	NM_152419.3(HGSNAT):c.375G>A (p.Leu125=)	Mucopolysaccharidosis, MPS-III-C [RCV001921826]	uncertain significance	8	43158926	43158926	Human	1	name
151796995	CV1503769	single nucleotide variant	NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)	Mucopolysaccharidosis, MPS-III-C [RCV001973564]	uncertain significance	8	43140585	43140585	Human	1	name
152140757	CV1520382	single nucleotide variant	NM_152419.3(HGSNAT):c.429T>C (p.His143=)	Mucopolysaccharidosis, MPS-III-C [RCV002178028]	likely benign	8	43158980	43158980	Human	1	name
152126036	CV1532429	single nucleotide variant	NM_152419.3(HGSNAT):c.345C>T (p.Asp115=)	Mucopolysaccharidosis, MPS-III-C [RCV002118464]	likely benign	8	43158685	43158685	Human	1	name
152032732	CV1537891	single nucleotide variant	NM_152419.3(HGSNAT):c.706C>T (p.Leu236=)	Mucopolysaccharidosis, MPS-III-C [RCV002186952]	likely benign	8	43170657	43170657	Human	1	name
152052083	CV1538923	single nucleotide variant	NM_152419.3(HGSNAT):c.331C>T (p.Leu111=)	Mucopolysaccharidosis, MPS-III-C [RCV002189538]	likely benign	8	43158671	43158671	Human	1	name
152071164	CV1570226	single nucleotide variant	NM_152419.3(HGSNAT):c.486T>C (p.Ser162=)	Mucopolysaccharidosis, MPS-III-C [RCV002191802]	likely benign	8	43159037	43159037	Human	1	name
152155635	CV1572898	single nucleotide variant	NM_152419.3(HGSNAT):c.651C>T (p.Ser217=)	Mucopolysaccharidosis, MPS-III-C [RCV002180083]	likely benign	8	43170602	43170602	Human	1	name
152035373	CV1583054	single nucleotide variant	NM_152419.3(HGSNAT):c.300T>C (p.Ala100=)	Mucopolysaccharidosis, MPS-III-C [RCV002106894]	likely benign	8	43158640	43158640	Human	1	name
152082675	CV1589621	single nucleotide variant	NM_152419.3(HGSNAT):c.468C>T (p.Asn156=)	Mucopolysaccharidosis, MPS-III-C [RCV002112967]	likely benign	8	43159019	43159019	Human	1	name
152099152	CV1595531	single nucleotide variant	NM_152419.3(HGSNAT):c.642A>T (p.Gly214=)	Mucopolysaccharidosis, MPS-III-C [RCV002213770]	likely benign	8	43170593	43170593	Human	1	name
152076917	CV1607105	single nucleotide variant	NM_152419.3(HGSNAT):c.570T>C (p.Asp190=)	Mucopolysaccharidosis, MPS-III-C [RCV002130345]	likely benign	8	43169179	43169179	Human	1	name
152043369	CV1618201	single nucleotide variant	NM_152419.3(HGSNAT):c.912G>T (p.Gly304=)	Mucopolysaccharidosis, MPS-III-C [RCV002206636]	likely benign	8	43178134	43178134	Human	1	name
152085736	CV1621079	single nucleotide variant	NM_152419.3(HGSNAT):c.600A>C (p.Ile200=)	Mucopolysaccharidosis, MPS-III-C [RCV002193608]	likely benign	8	43169209	43169209	Human	1	name
152071835	CV1633851	single nucleotide variant	NM_152419.3(HGSNAT):c.360A>G (p.Lys120=)	Mucopolysaccharidosis, MPS-III-C [RCV002191884]	likely benign	8	43158700	43158700	Human	1	name
152055094	CV1648695	single nucleotide variant	NM_152419.3(HGSNAT):c.699A>C (p.Leu233=)	Mucopolysaccharidosis, MPS-III-C [RCV002072833]	likely benign	8	43170650	43170650	Human	1	name
152058108	CV1651960	single nucleotide variant	NM_152419.3(HGSNAT):c.714C>G (p.Pro238=)	Mucopolysaccharidosis, MPS-III-C [RCV002190209]	likely benign	8	43170665	43170665	Human	1	name
152088935	CV1655784	single nucleotide variant	NM_152419.3(HGSNAT):c.417A>G (p.Val139=)	Mucopolysaccharidosis, MPS-III-C [RCV002194039]	likely benign	8	43158968	43158968	Human	1	name
152025987	CV1666146	single nucleotide variant	NM_152419.3(HGSNAT):c.996T>C (p.Asn332=)	Mucopolysaccharidosis, MPS-III-C [RCV002084649]	likely benign	8	43178218	43178218	Human	1	name
156358135	CV1904054	single nucleotide variant	NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)	Mucopolysaccharidosis, MPS-III-C [RCV002581534]	uncertain significance	8	43140560	43140560	Human	1	name
156134354	CV1914483	single nucleotide variant	NM_152419.3(HGSNAT):c.936G>T (p.Gly312=)	Mucopolysaccharidosis, MPS-III-C [RCV002623431]	uncertain significance	8	43178158	43178158	Human	1	name
156218143	CV1927987	single nucleotide variant	NM_152419.3(HGSNAT):c.423C>T (p.Asn141=)	Mucopolysaccharidosis, MPS-III-C [RCV002644288]	likely benign	8	43158974	43158974	Human	1	name
156446917	CV1948603	single nucleotide variant	NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)	Inborn genetic diseases [RCV004244646]\|Mucopolysaccharidosis, MPS-III-C [RCV003118438]	uncertain significance	8	43140524	43140524	Human	2	name
156400242	CV1982231	single nucleotide variant	NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)	Mucopolysaccharidosis, MPS-III-C [RCV002635900]	uncertain significance	8	43140592	43140592	Human	1	name
156345567	CV1995172	single nucleotide variant	NM_152419.3(HGSNAT):c.582T>C (p.Asn194=)	Mucopolysaccharidosis, MPS-III-C [RCV002650554]	likely benign	8	43169191	43169191	Human	1	name
156184653	CV2020622	single nucleotide variant	NM_152419.3(HGSNAT):c.807T>C (p.His269=)	Mucopolysaccharidosis, MPS-III-C [RCV002710891]	likely benign	8	43172373	43172373	Human	1	name
156052418	CV2027407	single nucleotide variant	NM_152419.3(HGSNAT):c.918A>G (p.Ser306=)	Mucopolysaccharidosis, MPS-III-C [RCV002736554]	likely benign	8	43178140	43178140	Human	1	name
156144706	CV2033105	single nucleotide variant	NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)	Mucopolysaccharidosis, MPS-III-C [RCV002741023]	uncertain significance	8	43140548	43140548	Human	1	name
156189156	CV2052303	single nucleotide variant	NM_152419.3(HGSNAT):c.357G>A (p.Glu119=)	Mucopolysaccharidosis, MPS-III-C [RCV002828554]	likely benign	8	43158697	43158697	Human	1	name
156014549	CV2061532	single nucleotide variant	NM_152419.3(HGSNAT):c.420G>A (p.Lys140=)	Mucopolysaccharidosis, MPS-III-C [RCV002820304]	likely benign	8	43158971	43158971	Human	1	name
156213856	CV2074391	single nucleotide variant	NM_152419.3(HGSNAT):c.750T>C (p.Ala250=)	Mucopolysaccharidosis, MPS-III-C [RCV002829408]	likely benign	8	43172316	43172316	Human	1	name
155937346	CV2075016	single nucleotide variant	NM_152419.3(HGSNAT):c.624C>T (p.Leu208=)	Mucopolysaccharidosis, MPS-III-C [RCV002861537]	likely benign	8	43169233	43169233	Human	1	name
156203685	CV2076599	single nucleotide variant	NM_152419.3(HGSNAT):c.792T>C (p.Tyr264=)	Mucopolysaccharidosis, MPS-III-C [RCV002852557]	likely benign	8	43172358	43172358	Human	1	name
155901879	CV2083866	single nucleotide variant	NM_152419.3(HGSNAT):c.681G>A (p.Gln227=)	Mucopolysaccharidosis, MPS-III-C [RCV002857910]	likely benign	8	43170632	43170632	Human	1	name
156233209	CV2093916	single nucleotide variant	NM_152419.3(HGSNAT):c.999T>C (p.Tyr333=)	Mucopolysaccharidosis, MPS-III-C [RCV002894632]	likely benign	8	43178221	43178221	Human	1	name
155927688	CV2145231	single nucleotide variant	NM_152419.3(HGSNAT):c.547C>T (p.Leu183=)	Mucopolysaccharidosis, MPS-III-C [RCV003013487]	likely benign	8	43161491	43161491	Human	1	name
156239570	CV2152278	single nucleotide variant	NM_152419.3(HGSNAT):c.621C>T (p.Arg207=)	Mucopolysaccharidosis, MPS-III-C [RCV003008049]	likely benign	8	43169230	43169230	Human	1	name
405022578	CV3081842	single nucleotide variant	NM_152419.3(HGSNAT):c.888G>C (p.Ser296=)	Mucopolysaccharidosis, MPS-III-C [RCV003785448]	likely benign	8	43178110	43178110	Human	1	name
404988291	CV3084002	single nucleotide variant	NM_152419.3(HGSNAT):c.909G>A (p.Arg303=)	Mucopolysaccharidosis, MPS-III-C [RCV003782194]	likely benign	8	43178131	43178131	Human	1	name
405047631	CV3084416	single nucleotide variant	NM_152419.3(HGSNAT):c.738C>T (p.Phe246=)	Mucopolysaccharidosis, MPS-III-C [RCV003797823]	likely benign	8	43170689	43170689	Human	1	name
405023310	CV3084954	single nucleotide variant	NM_152419.3(HGSNAT):c.705C>T (p.Ala235=)	Mucopolysaccharidosis, MPS-III-C [RCV003795820]	likely benign	8	43170656	43170656	Human	1	name
402504299	CV3088723	single nucleotide variant	NM_152419.3(HGSNAT):c.657A>G (p.Thr219=)	Mucopolysaccharidosis, MPS-III-C [RCV003779432]	likely benign	8	43170608	43170608	Human	1	name
405012739	CV3093498	single nucleotide variant	NM_152419.3(HGSNAT):c.378A>G (p.Glu126=)	Mucopolysaccharidosis, MPS-III-C [RCV003784502]	likely benign	8	43158929	43158929	Human	1	name
405046326	CV3097317	single nucleotide variant	NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)	Mucopolysaccharidosis, MPS-III-C [RCV003807897]	pathogenic	8	43140582	43140582	Human	1	name
404978613	CV3099070	single nucleotide variant	NM_152419.3(HGSNAT):c.823C>T (p.Leu275=)	Mucopolysaccharidosis, MPS-III-C [RCV003791050]	likely benign	8	43173715	43173715	Human	1	name
405072386	CV3099902	single nucleotide variant	NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)	Mucopolysaccharidosis, MPS-III-C [RCV003799617]	likely benign	8	43158959	43158959	Human	1	name
405001708	CV3102004	single nucleotide variant	NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)	Mucopolysaccharidosis, MPS-III-C [RCV003804049]	likely benign	8	43170656	43170656	Human	1	name
405005027	CV3102303	single nucleotide variant	NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)	Mucopolysaccharidosis, MPS-III-C [RCV003804349]	likely benign	8	43158953	43158953	Human	1	name
405008875	CV3105952	single nucleotide variant	NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)	Mucopolysaccharidosis, MPS-III-C [RCV003794450]	likely benign	8	43169188	43169188	Human	1	name
405037488	CV3106300	single nucleotide variant	NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)	Mucopolysaccharidosis, MPS-III-C [RCV003796991]	likely benign	8	43161454	43161454	Human	1	name
405087709	CV3108039	single nucleotide variant	NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)	Mucopolysaccharidosis, MPS-III-C [RCV003800737]	likely benign	8	43169227	43169227	Human	1	name
405058115	CV3108218	single nucleotide variant	NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)	Mucopolysaccharidosis, MPS-III-C [RCV003808796]	likely benign	8	43161496	43161496	Human	1	name
405009591	CV3109080	single nucleotide variant	NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)	Mucopolysaccharidosis, MPS-III-C [RCV003804747]	likely benign	8	43158986	43158986	Human	1	name
405157076	CV3109393	single nucleotide variant	NM_152419.3(HGSNAT):c.771C>T (p.Val257=)	Mucopolysaccharidosis, MPS-III-C [RCV003801917]	likely benign	8	43172337	43172337	Human	1	name
405124926	CV3111808	single nucleotide variant	NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)	Mucopolysaccharidosis, MPS-III-C [RCV003815281]	likely benign	8	43178167	43178167	Human	1	name
405082536	CV3113522	single nucleotide variant	NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)	Mucopolysaccharidosis, MPS-III-C [RCV003810539]	likely benign	8	43158673	43158673	Human	1	name
11609770	CV314595	single nucleotide variant	NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)	Mucopolysaccharidosis, MPS-III-C [RCV000372738]\|Mucopolysaccharidosis, MPS-III-C [RCV001083633]\|not provided [RCV000675863]\|not specified [RCV002222495]	likely benign\|uncertain significance	8	43158682	43158682	Human	1	name
405262820	CV3188377	single nucleotide variant	NM_152419.3(HGSNAT):c.636G>A (p.Glu212=)	Retinal dystrophy [RCV003889441]	uncertain significance	8	43170587	43170587	Human	2	name
407521926	CV3437249	single nucleotide variant	NM_152419.3(HGSNAT):c.86C>G (p.Ser29Trp)	Inborn genetic diseases [RCV004630557]	uncertain significance	8	43140582	43140582	Human	1	name
597652478	CV3722782	duplication	NM_152419.3(HGSNAT):c.208dup (p.Tyr70fs)	Mucopolysaccharidosis, MPS-III-C [RCV005041222]	likely pathogenic	8	43147036	43147037	Human	1	name
597854659	CV3870515	single nucleotide variant	NM_152419.3(HGSNAT):c.71C>T (p.Ala24Val)	Mucopolysaccharidosis, MPS-III-C [RCV005228716]	likely benign	8	43140567	43140567	Human	1	name
597875856	CV3871390	single nucleotide variant	NM_152419.3(HGSNAT):c.318G>A (p.Gln106=)	Mucopolysaccharidosis, MPS-III-C [RCV005216604]	likely benign	8	43158658	43158658	Human	1	name
597900873	CV3876573	single nucleotide variant	NM_152419.3(HGSNAT):c.315C>G (p.Thr105=)	Mucopolysaccharidosis, MPS-III-C [RCV005220271]	likely benign	8	43158655	43158655	Human	1	name
13808565	CV565143	single nucleotide variant	NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)	Mucopolysaccharidosis, MPS-III-C [RCV000701728]\|Mucopolysaccharidosis, MPS-III-C [RCV001825380]	uncertain significance	8	43140585	43140585	Human	1	name
15141374	CV711546	single nucleotide variant	NM_152419.3(HGSNAT):c.765C>T (p.Val255=)	Mucopolysaccharidosis, MPS-III-C [RCV000966296]\|Mucopolysaccharidosis, MPS-III-C [RCV001275628]	likely benign\|uncertain significance	8	43172331	43172331	Human	1	name
15177414	CV711547	single nucleotide variant	NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)	Mucopolysaccharidosis, MPS-III-C [RCV000973420]\|Mucopolysaccharidosis, MPS-III-C [RCV001827060]	likely benign	8	43178110	43178110	Human	1	name
15189697	CV723111	single nucleotide variant	NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)	Mucopolysaccharidosis, MPS-III-C [RCV000887893]\|Mucopolysaccharidosis, MPS-III-C [RCV001830944]	likely benign	8	43178150	43178150	Human	1	name
15150536	CV736687	single nucleotide variant	NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)	Mucopolysaccharidosis, MPS-III-C [RCV000901175]\|Mucopolysaccharidosis, MPS-III-C [RCV001159325]	likely benign\|uncertain significance	8	43170692	43170692	Human	1	name
15194654	CV751172	single nucleotide variant	NM_152419.3(HGSNAT):c.321C>T (p.His107=)	Mucopolysaccharidosis, MPS-III-C [RCV000911186]	likely benign	8	43158661	43158661	Human	1	name
15168629	CV751173	single nucleotide variant	NM_152419.3(HGSNAT):c.652A>C (p.Arg218=)	Mucopolysaccharidosis, MPS-III-C [RCV000927332]	likely benign	8	43170603	43170603	Human	1	name
15118406	CV751175	single nucleotide variant	NM_152419.3(HGSNAT):c.699A>G (p.Leu233=)	Mucopolysaccharidosis, MPS-III-C [RCV000917969]	likely benign	8	43170650	43170650	Human	1	name
15176220	CV766833	single nucleotide variant	NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)	Mucopolysaccharidosis, MPS-III-C [RCV001456484]	likely benign	8	43169185	43169185	Human	1	name
15114766	CV783115	single nucleotide variant	NM_152419.3(HGSNAT):c.837C>T (p.Asp279=)	Mucopolysaccharidosis, MPS-III-C [RCV001477393]	likely benign	8	43173729	43173729	Human	1	name
28872070	CV899649	single nucleotide variant	NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)	Mucopolysaccharidosis, MPS-III-C [RCV001164230]\|Mucopolysaccharidosis, MPS-III-C [RCV001492187]	likely benign\|uncertain significance	8	43169200	43169200	Human	1	name
38460197	CV919158	deletion	NM_152419.3(HGSNAT):c.272del (p.Pro91fs)	Mucopolysaccharidosis, MPS-III-C [RCV005049784]\|Retinitis pigmentosa 73 [RCV001196380]	likely pathogenic	8	43158611	43158611	Human	2	name
38456331	CV934318	deletion	NM_152419.3(HGSNAT):c.150del (p.Met51fs)	Mucopolysaccharidosis, MPS-III-C [RCV001210786]	pathogenic	8	43146979	43146979	Human	1	name
38473923	CV946077	deletion	NM_152419.3(HGSNAT):c.111del (p.Pro38fs)	Mucopolysaccharidosis, MPS-III-C [RCV001232001]	pathogenic	8	43140607	43140607	Human	1	name
126753323	CV1008044	single nucleotide variant	NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)	Mucopolysaccharidosis, MPS-III-C [RCV001327263]\|Mucopolysaccharidosis, MPS-III-C [RCV001831030]	uncertain significance	8	43140606	43140606	Human	1	name
8643414	CV102397	single nucleotide variant	NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)	Mucopolysaccharidosis, MPS-III-C [RCV000610663]\|Mucopolysaccharidosis, MPS-III-C [RCV001518419]\|Retinitis pigmentosa 73 [RCV001532826]\|not provided [RCV000588987]\|not specified [RCV000082655]	benign	8	43199410	43199410	Human	2	name
126764731	CV1028564	single nucleotide variant	NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)	Mucopolysaccharidosis, MPS-III-C [RCV001341765]\|Mucopolysaccharidosis, MPS-III-C [RCV001831075]\|Retinal dystrophy [RCV004815405]	uncertain significance	8	43182260	43182260	Human	3	name
126725731	CV1028566	single nucleotide variant	NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)	Mucopolysaccharidosis, MPS-III-C [RCV001348240]	likely benign\|uncertain significance	8	43193771	43193771	Human	1	name
126912366	CV1037869	single nucleotide variant	NM_152419.3(HGSNAT):c.137A>T (p.His46Leu)	Mucopolysaccharidosis, MPS-III-C [RCV003771043]\|not provided [RCV001356453]	uncertain significance	8	43146966	43146966	Human	1	name
126919932	CV1045534	single nucleotide variant	NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)	Mucopolysaccharidosis, MPS-III-C [RCV001373512]	uncertain significance	8	43158618	43158618	Human	1	name
127283187	CV1075410	single nucleotide variant	NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=)	Mucopolysaccharidosis, MPS-III-C [RCV001411602]	likely benign	8	43191527	43191527	Human	1	name
127282129	CV1075412	single nucleotide variant	NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=)	Mucopolysaccharidosis, MPS-III-C [RCV001410930]	likely benign	8	43193780	43193780	Human	1	name
127274884	CV1075413	single nucleotide variant	NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=)	Mucopolysaccharidosis, MPS-III-C [RCV001406511]	likely benign	8	43193819	43193819	Human	1	name
127258528	CV1075415	single nucleotide variant	NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=)	Mucopolysaccharidosis, MPS-III-C [RCV001401705]	likely benign	8	43197004	43197004	Human	1	name
127267658	CV1075417	single nucleotide variant	NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=)	Mucopolysaccharidosis, MPS-III-C [RCV001404171]	likely benign	8	43197843	43197843	Human	1	name
127234871	CV1075418	single nucleotide variant	NM_152419.3(HGSNAT):c.1680T>G (p.Val560=)	Mucopolysaccharidosis, MPS-III-C [RCV001396511]	likely benign	8	43197906	43197906	Human	1	name
127253766	CV1075419	single nucleotide variant	NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=)	Mucopolysaccharidosis, MPS-III-C [RCV001400639]	likely benign	8	43197924	43197924	Human	1	name
127229962	CV1075420	single nucleotide variant	NM_152419.3(HGSNAT):c.1815C>T (p.His605=)	Mucopolysaccharidosis, MPS-III-C [RCV001412254]	likely benign	8	43199476	43199476	Human	1	name
127269527	CV1075421	single nucleotide variant	NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=)	Mucopolysaccharidosis, MPS-III-C [RCV001404736]	likely benign	8	43199482	43199482	Human	1	name
127241552	CV1075422	single nucleotide variant	NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)	Mucopolysaccharidosis, MPS-III-C [RCV001398009]\|Mucopolysaccharidosis, MPS-III-C [RCV001826195]	likely benign	8	43199497	43199497	Human	1	name
127276999	CV1075423	single nucleotide variant	NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=)	Mucopolysaccharidosis, MPS-III-C [RCV001407500]	likely benign	8	43199533	43199533	Human	1	name
127279559	CV1097077	single nucleotide variant	NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=)	Mucopolysaccharidosis, MPS-III-C [RCV001445869]	likely benign	8	43182257	43182257	Human	1	name
127278516	CV1097079	single nucleotide variant	NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=)	Mucopolysaccharidosis, MPS-III-C [RCV001445119]	likely benign	8	43191536	43191536	Human	1	name
127277952	CV1097080	single nucleotide variant	NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=)	Mucopolysaccharidosis, MPS-III-C [RCV001444701]	likely benign	8	43192355	43192355	Human	1	name
127276489	CV1097081	single nucleotide variant	NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=)	Mucopolysaccharidosis, MPS-III-C [RCV001432839]	likely benign	8	43192379	43192379	Human	1	name
127281411	CV1097082	single nucleotide variant	NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=)	Mucopolysaccharidosis, MPS-III-C [RCV001447146]	likely benign	8	43192391	43192391	Human	1	name
127236150	CV1097083	single nucleotide variant	NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=)	Mucopolysaccharidosis, MPS-III-C [RCV001433286]	likely benign	8	43192412	43192412	Human	1	name
127278567	CV1097084	single nucleotide variant	NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=)	Mucopolysaccharidosis, MPS-III-C [RCV001445148]	likely benign	8	43192424	43192424	Human	1	name
127258965	CV1097088	single nucleotide variant	NM_152419.3(HGSNAT):c.1629C>T (p.Val543=)	Mucopolysaccharidosis, MPS-III-C [RCV001438267]	likely benign	8	43197855	43197855	Human	1	name
127272056	CV1097089	single nucleotide variant	NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=)	Mucopolysaccharidosis, MPS-III-C [RCV001431176]	likely benign	8	43197930	43197930	Human	1	name
127237498	CV1097090	single nucleotide variant	NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=)	Mucopolysaccharidosis, MPS-III-C [RCV001422711]	likely benign	8	43199416	43199416	Human	1	name
127270992	CV1097091	single nucleotide variant	NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=)	Mucopolysaccharidosis, MPS-III-C [RCV001430794]	likely benign	8	43199464	43199464	Human	1	name
127327553	CV1118630	single nucleotide variant	NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=)	Mucopolysaccharidosis, MPS-III-C [RCV001469127]	likely benign	8	43182239	43182239	Human	1	name
127294371	CV1118631	single nucleotide variant	NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=)	Mucopolysaccharidosis, MPS-III-C [RCV001452226]	likely benign	8	43182257	43182257	Human	1	name
127324500	CV1118632	single nucleotide variant	NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=)	Mucopolysaccharidosis, MPS-III-C [RCV001468218]	likely benign	8	43191569	43191569	Human	1	name
127309561	CV1118634	single nucleotide variant	NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=)	Mucopolysaccharidosis, MPS-III-C [RCV001463660]	likely benign	8	43196960	43196960	Human	1	name
127299690	CV1118636	single nucleotide variant	NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=)	Mucopolysaccharidosis, MPS-III-C [RCV001460893]	likely benign	8	43197674	43197674	Human	1	name
127318955	CV1118637	single nucleotide variant	NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=)	Mucopolysaccharidosis, MPS-III-C [RCV001466410]	likely benign	8	43197858	43197858	Human	1	name
127330933	CV1118638	single nucleotide variant	NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=)	Mucopolysaccharidosis, MPS-III-C [RCV001471246]	likely benign	8	43199440	43199440	Human	1	name
127298942	CV1118639	single nucleotide variant	NM_152419.3(HGSNAT):c.1842C>A (p.Val614=)	Mucopolysaccharidosis, MPS-III-C [RCV001460673]	likely benign	8	43199503	43199503	Human	1	name
127291323	CV1118640	single nucleotide variant	NM_152419.3(HGSNAT):c.1842C>T (p.Val614=)	Mucopolysaccharidosis, MPS-III-C [RCV001476038]\|not provided [RCV003426133]	likely benign	8	43199503	43199503	Human	1	name
127318255	CV1139511	single nucleotide variant	NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=)	Mucopolysaccharidosis, MPS-III-C [RCV001483469]	likely benign	8	43178224	43178224	Human	1	name
127328920	CV1139512	single nucleotide variant	NM_152419.3(HGSNAT):c.1044G>A (p.Val348=)	Mucopolysaccharidosis, MPS-III-C [RCV001487071]	likely benign	8	43182176	43182176	Human	1	name
127316931	CV1139513	single nucleotide variant	NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=)	Mucopolysaccharidosis, MPS-III-C [RCV001483016]	likely benign	8	43182248	43182248	Human	1	name
127315704	CV1139514	single nucleotide variant	NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=)	Mucopolysaccharidosis, MPS-III-C [RCV001482587]	likely benign	8	43192343	43192343	Human	1	name
127305130	CV1139515	single nucleotide variant	NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=)	Mucopolysaccharidosis, MPS-III-C [RCV001479714]	likely benign	8	43196962	43196962	Human	1	name
127316513	CV1139517	single nucleotide variant	NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)	Mucopolysaccharidosis, MPS-III-C [RCV001482883]\|Mucopolysaccharidosis, MPS-III-C [RCV001832629]\|Retinal dystrophy [RCV003888209]\|not provided [RCV001581157]	likely benign	8	43199500	43199500	Human	3	name
127318091	CV1139518	single nucleotide variant	NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=)	Mucopolysaccharidosis, MPS-III-C [RCV001503562]	likely benign	8	43199506	43199506	Human	1	name
127327395	CV1139519	single nucleotide variant	NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=)	Mucopolysaccharidosis, MPS-III-C [RCV001486343]	likely benign	8	43199568	43199568	Human	1	name
150336767	CV1165878	single nucleotide variant	NM_152419.3(HGSNAT):c.1758C>T (p.His586=)	Mucopolysaccharidosis, MPS-III-C [RCV002070387]\|not provided [RCV001532140]	likely benign	8	43199419	43199419	Human	1	name
150429540	CV1189320	single nucleotide variant	NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)	Mucopolysaccharidosis, MPS-III-C [RCV001563770]\|Mucopolysaccharidosis, MPS-III-C [RCV002070393]\|Retinitis pigmentosa 73 [RCV001563771]	likely benign\|uncertain significance	8	43192322	43192322	Human	2	name
151824276	CV1350856	single nucleotide variant	NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro)	Mucopolysaccharidosis, MPS-III-C [RCV001919872]	uncertain significance	8	43147014	43147014	Human	1	name
151817509	CV1385623	single nucleotide variant	NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val)	Inborn genetic diseases [RCV005350849]\|Mucopolysaccharidosis, MPS-III-C [RCV002013048]	uncertain significance	8	43158618	43158618	Human	2	name
151859390	CV1403705	single nucleotide variant	NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met)	Mucopolysaccharidosis, MPS-III-C [RCV001996935]	uncertain significance	8	43147003	43147003	Human	1	name
151720988	CV1420944	deletion	NM_152419.3(HGSNAT):c.719del (p.Leu240fs)	Mucopolysaccharidosis, MPS-III-C [RCV002040075]	pathogenic	8	43170670	43170670	Human	1	name
151866734	CV1446473	single nucleotide variant	NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly)	Mucopolysaccharidosis, MPS-III-C [RCV001980805]	uncertain significance	8	43158600	43158600	Human	1	name
151792083	CV1471045	single nucleotide variant	NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg)	Mucopolysaccharidosis, MPS-III-C [RCV001931515]	uncertain significance	8	43140606	43140606	Human	1	name
151773196	CV1504772	single nucleotide variant	NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys)	Mucopolysaccharidosis, MPS-III-C [RCV002009043]	uncertain significance	8	43146971	43146971	Human	1	name
152044899	CV1525642	single nucleotide variant	NM_152419.3(HGSNAT):c.1368A>G (p.Pro456=)	Mucopolysaccharidosis, MPS-III-C [RCV002126544]	likely benign	8	43192421	43192421	Human	1	name
152144647	CV1543160	single nucleotide variant	NM_152419.3(HGSNAT):c.1227C>T (p.Leu409=)	Mucopolysaccharidosis, MPS-III-C [RCV002178534]	likely benign	8	43191572	43191572	Human	1	name
152082546	CV1558847	single nucleotide variant	NM_152419.3(HGSNAT):c.1669C>T (p.Leu557=)	Mucopolysaccharidosis, MPS-III-C [RCV002149501]	likely benign	8	43197895	43197895	Human	1	name
152138818	CV1563571	single nucleotide variant	NM_152419.3(HGSNAT):c.1392C>G (p.Thr464=)	Mucopolysaccharidosis, MPS-III-C [RCV002200309]	likely benign	8	43193771	43193771	Human	1	name
152092660	CV1567821	single nucleotide variant	NM_152419.3(HGSNAT):c.1230G>T (p.Leu410=)	Mucopolysaccharidosis, MPS-III-C [RCV002212943]	likely benign	8	43191575	43191575	Human	1	name
152111242	CV1582296	single nucleotide variant	NM_152419.3(HGSNAT):c.1155C>T (p.Asp385=)	Mucopolysaccharidosis, MPS-III-C [RCV002080278]	likely benign	8	43191500	43191500	Human	1	name
152144477	CV1582525	single nucleotide variant	NM_152419.3(HGSNAT):c.1824C>T (p.His608=)	Mucopolysaccharidosis, MPS-III-C [RCV002201026]	likely benign	8	43199485	43199485	Human	1	name
152132154	CV1585034	single nucleotide variant	NM_152419.3(HGSNAT):c.1638C>A (p.Leu546=)	Mucopolysaccharidosis, MPS-III-C [RCV002083008]	likely benign	8	43197864	43197864	Human	1	name
152025936	CV1586636	single nucleotide variant	NM_152419.3(HGSNAT):c.1008T>A (p.Gly336=)	Mucopolysaccharidosis, MPS-III-C [RCV002184987]	likely benign	8	43178230	43178230	Human	1	name
152136236	CV1587814	single nucleotide variant	NM_152419.3(HGSNAT):c.1045C>T (p.Leu349=)	Mucopolysaccharidosis, MPS-III-C [RCV002083541]	likely benign	8	43182177	43182177	Human	1	name
152035996	CV1590541	single nucleotide variant	NM_152419.3(HGSNAT):c.1635G>C (p.Thr545=)	Mucopolysaccharidosis, MPS-III-C [RCV002205584]	likely benign	8	43197861	43197861	Human	1	name
152155712	CV1620577	single nucleotide variant	NM_152419.3(HGSNAT):c.1671G>A (p.Leu557=)	Mucopolysaccharidosis, MPS-III-C [RCV002122384]	likely benign	8	43197897	43197897	Human	1	name
152044406	CV1622004	single nucleotide variant	NM_152419.3(HGSNAT):c.1161G>A (p.Thr387=)	Mucopolysaccharidosis, MPS-III-C [RCV002108162]	likely benign	8	43191506	43191506	Human	1	name
152107699	CV1624087	single nucleotide variant	NM_152419.3(HGSNAT):c.1677A>G (p.Pro559=)	Mucopolysaccharidosis, MPS-III-C [RCV002134073]	likely benign	8	43197903	43197903	Human	1	name
8595353	CV16274	duplication	NM_152419.3(HGSNAT):c.525dup (p.Val176fs)	Mucopolysaccharidosis, MPS-III-C [RCV000001294]\|Mucopolysaccharidosis, MPS-III-C [RCV002476908]\|not provided [RCV002243612]	pathogenic	8	43161468	43161469	Human	1	name
152176485	CV1631422	single nucleotide variant	NM_152419.3(HGSNAT):c.1299T>C (p.Asn433=)	Mucopolysaccharidosis, MPS-III-C [RCV002164630]	likely benign	8	43192352	43192352	Human	1	name
152151724	CV1631583	single nucleotide variant	NM_152419.3(HGSNAT):c.1050G>A (p.Gln350=)	Mucopolysaccharidosis, MPS-III-C [RCV002179556]	likely benign	8	43182182	43182182	Human	1	name
152150421	CV1636263	single nucleotide variant	NM_152419.3(HGSNAT):c.1710C>T (p.Thr570=)	Mucopolysaccharidosis, MPS-III-C [RCV002102143]	likely benign	8	43197936	43197936	Human	1	name
152086158	CV1645315	single nucleotide variant	NM_152419.3(HGSNAT):c.1473A>G (p.Lys491=)	Mucopolysaccharidosis, MPS-III-C [RCV002131453]	likely benign	8	43196956	43196956	Human	1	name
152084849	CV1646483	single nucleotide variant	NM_152419.3(HGSNAT):c.1173C>T (p.Pro391=)	Mucopolysaccharidosis, MPS-III-C [RCV002149789]	likely benign	8	43191518	43191518	Human	1	name
152060323	CV1648669	single nucleotide variant	NM_152419.3(HGSNAT):c.1161G>T (p.Thr387=)	Mucopolysaccharidosis, MPS-III-C [RCV002090175]	likely benign	8	43191506	43191506	Human	1	name
152165467	CV1649260	single nucleotide variant	NM_152419.3(HGSNAT):c.1557T>C (p.Val519=)	Mucopolysaccharidosis, MPS-III-C [RCV002204251]	likely benign	8	43197686	43197686	Human	1	name
152147926	CV1656279	single nucleotide variant	NM_152419.3(HGSNAT):c.1764G>A (p.Val588=)	Mucopolysaccharidosis, MPS-III-C [RCV002220340]	likely benign	8	43199425	43199425	Human	1	name
152073905	CV1660520	single nucleotide variant	NM_152419.3(HGSNAT):c.1710C>A (p.Thr570=)	Mucopolysaccharidosis, MPS-III-C [RCV002169648]	likely benign	8	43197936	43197936	Human	1	name
155726012	CV1783691	duplication	NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)	Mucopolysaccharidosis, MPS-III-C [RCV002307135]	likely pathogenic	8	43170678	43170679	Human	1	name
156249543	CV1886926	single nucleotide variant	NM_152419.3(HGSNAT):c.1281T>C (p.Asp427=)	Mucopolysaccharidosis, MPS-III-C [RCV003086053]	likely benign	8	43192334	43192334	Human	1	name
155969609	CV1888868	single nucleotide variant	NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)	Mucopolysaccharidosis, MPS-III-C [RCV003075112]	uncertain significance	8	43158579	43158579	Human	1	name
156344090	CV1907572	single nucleotide variant	NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)	Mucopolysaccharidosis, MPS-III-C [RCV003090534]	uncertain significance	8	43158603	43158603	Human	1	name
156047987	CV1914912	single nucleotide variant	NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)	Mucopolysaccharidosis, MPS-III-C [RCV002620505]	uncertain significance	8	43158593	43158593	Human	1	name
156087438	CV1919578	single nucleotide variant	NM_152419.3(HGSNAT):c.1713A>T (p.Pro571=)	Mucopolysaccharidosis, MPS-III-C [RCV002591787]	likely benign	8	43197939	43197939	Human	1	name
156081916	CV1972141	single nucleotide variant	NM_152419.3(HGSNAT):c.1065A>T (p.Thr355=)	Mucopolysaccharidosis, MPS-III-C [RCV002621572]	likely benign	8	43182197	43182197	Human	1	name
156393636	CV1983445	single nucleotide variant	NM_152419.3(HGSNAT):c.1776C>T (p.Tyr592=)	Mucopolysaccharidosis, MPS-III-C [RCV002604913]	likely benign	8	43199437	43199437	Human	1	name
156125043	CV1992896	single nucleotide variant	NM_152419.3(HGSNAT):c.1752C>A (p.Val584=)	Mucopolysaccharidosis, MPS-III-C [RCV002623093]	uncertain significance	8	43199413	43199413	Human	1	name
156254137	CV2003616	single nucleotide variant	NM_152419.3(HGSNAT):c.1566G>A (p.Thr522=)	Mucopolysaccharidosis, MPS-III-C [RCV002627549]	likely benign	8	43197695	43197695	Human	1	name
155936108	CV2045799	single nucleotide variant	NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe)	Mucopolysaccharidosis, MPS-III-C [RCV002751469]	uncertain significance	8	43147047	43147047	Human	1	name
156239968	CV2047398	single nucleotide variant	NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)	Mucopolysaccharidosis, MPS-III-C [RCV002805640]\|Retinal dystrophy [RCV003889161]	likely benign\|uncertain significance	8	43191573	43191573	Human	3	name
156340725	CV2055366	single nucleotide variant	NM_152419.3(HGSNAT):c.1533T>C (p.Cys511=)	Mucopolysaccharidosis, MPS-III-C [RCV002811185]	likely benign	8	43197016	43197016	Human	1	name
155999286	CV2057324	single nucleotide variant	NM_152419.3(HGSNAT):c.1110G>C (p.Val370=)	Mucopolysaccharidosis, MPS-III-C [RCV002819569]	likely benign	8	43182242	43182242	Human	1	name
156284339	CV2061576	single nucleotide variant	NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)	Mucopolysaccharidosis, MPS-III-C [RCV002832951]	pathogenic	8	43158584	43158584	Human	1	name
156296162	CV2065328	single nucleotide variant	NM_152419.3(HGSNAT):c.1158C>T (p.Ile386=)	Mucopolysaccharidosis, MPS-III-C [RCV002856951]	likely benign	8	43191503	43191503	Human	1	name
156222178	CV2067946	single nucleotide variant	NM_152419.3(HGSNAT):c.1401C>G (p.Ala467=)	Mucopolysaccharidosis, MPS-III-C [RCV002829727]	likely benign	8	43193780	43193780	Human	1	name
155981382	CV2070133	single nucleotide variant	NM_152419.3(HGSNAT):c.1722T>C (p.Tyr574=)	Mucopolysaccharidosis, MPS-III-C [RCV002842535]	likely benign	8	43197948	43197948	Human	1	name
156178824	CV2072186	single nucleotide variant	NM_152419.3(HGSNAT):c.1054T>C (p.Leu352=)	Mucopolysaccharidosis, MPS-III-C [RCV002851772]	likely benign	8	43182186	43182186	Human	1	name
156107748	CV2072380	deletion	NM_152419.3(HGSNAT):c.959del (p.Leu320fs)	Mucopolysaccharidosis, MPS-III-C [RCV002870776]	pathogenic	8	43178181	43178181	Human	1	name
155943635	CV2072399	single nucleotide variant	NM_152419.3(HGSNAT):c.1185C>T (p.Leu395=)	Mucopolysaccharidosis, MPS-III-C [RCV002861937]	likely benign	8	43191530	43191530	Human	1	name
156331727	CV2075792	single nucleotide variant	NM_152419.3(HGSNAT):c.1452T>C (p.Phe484=)	Mucopolysaccharidosis, MPS-III-C [RCV002835336]	likely benign	8	43193831	43193831	Human	1	name
155958182	CV2087134	single nucleotide variant	NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)	Mucopolysaccharidosis, MPS-III-C [RCV002862722]	likely benign	8	43193832	43193832	Human	1	name
155958503	CV2087158	single nucleotide variant	NM_152419.3(HGSNAT):c.1818G>A (p.Lys606=)	Mucopolysaccharidosis, MPS-III-C [RCV002862739]	likely benign	8	43199479	43199479	Human	1	name
156313986	CV2089512	single nucleotide variant	NM_152419.3(HGSNAT):c.1566G>C (p.Thr522=)	Mucopolysaccharidosis, MPS-III-C [RCV002898879]	likely benign	8	43197695	43197695	Human	1	name
156167056	CV2102249	single nucleotide variant	NM_152419.3(HGSNAT):c.1795C>T (p.Leu599=)	Mucopolysaccharidosis, MPS-III-C [RCV002891206]	likely benign	8	43199456	43199456	Human	1	name
156327501	CV2116155	single nucleotide variant	NM_152419.3(HGSNAT):c.1431C>T (p.Ile477=)	Mucopolysaccharidosis, MPS-III-C [RCV002938172]	likely benign	8	43193810	43193810	Human	1	name
156036659	CV2143239	deletion	NM_152419.3(HGSNAT):c.932del (p.Leu311fs)	Mucopolysaccharidosis, MPS-III-C [RCV002999357]	pathogenic	8	43178154	43178154	Human	1	name
155907877	CV2144549	single nucleotide variant	NM_152419.3(HGSNAT):c.1089G>A (p.Glu363=)	Mucopolysaccharidosis, MPS-III-C [RCV003012039]	likely benign	8	43182221	43182221	Human	1	name
156109828	CV2145935	single nucleotide variant	NM_152419.3(HGSNAT):c.1548C>T (p.Leu516=)	Mucopolysaccharidosis, MPS-III-C [RCV003021362]	likely benign	8	43197677	43197677	Human	1	name
156253056	CV2162777	single nucleotide variant	NM_152419.3(HGSNAT):c.1248T>C (p.Pro416=)	Mucopolysaccharidosis, MPS-III-C [RCV003026408]	likely benign	8	43191593	43191593	Human	1	name
156229007	CV2164894	single nucleotide variant	NM_152419.3(HGSNAT):c.1782C>G (p.Pro594=)	Mucopolysaccharidosis, MPS-III-C [RCV003043012]	likely benign	8	43199443	43199443	Human	1	name
156356589	CV2165989	single nucleotide variant	NM_152419.3(HGSNAT):c.1641T>C (p.Ser547=)	Mucopolysaccharidosis, MPS-III-C [RCV003031276]	likely benign	8	43197867	43197867	Human	1	name
156262114	CV2191085	single nucleotide variant	NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)	Mucopolysaccharidosis, MPS-III-C [RCV003044154]\|Retinal dystrophy [RCV003889211]	uncertain significance	8	43146964	43146964	Human	3	name
405024387	CV3082025	single nucleotide variant	NM_152419.3(HGSNAT):c.1890G>A (p.Lys630=)	Mucopolysaccharidosis, MPS-III-C [RCV003785631]	likely benign	8	43199551	43199551	Human	1	name
405014721	CV3083891	single nucleotide variant	NM_152419.3(HGSNAT):c.1182G>A (p.Leu394=)	Mucopolysaccharidosis, MPS-III-C [RCV003784684]	likely benign	8	43191527	43191527	Human	1	name
405014780	CV3083897	single nucleotide variant	NM_152419.3(HGSNAT):c.1005T>A (p.Leu335=)	Mucopolysaccharidosis, MPS-III-C [RCV003784690]	likely benign	8	43178227	43178227	Human	1	name
404997340	CV3088599	single nucleotide variant	NM_152419.3(HGSNAT):c.1794G>A (p.Lys598=)	Mucopolysaccharidosis, MPS-III-C [RCV003793377]	likely benign	8	43199455	43199455	Human	1	name
402503349	CV3090070	single nucleotide variant	NM_152419.3(HGSNAT):c.1051C>A (p.Arg351=)	Mucopolysaccharidosis, MPS-III-C [RCV003788836]	likely benign	8	43182183	43182183	Human	1	name
402506156	CV3090364	single nucleotide variant	NM_152419.3(HGSNAT):c.1545G>T (p.Gly515=)	Mucopolysaccharidosis, MPS-III-C [RCV003789133]	likely benign	8	43197674	43197674	Human	1	name
402493640	CV3092194	duplication	NM_152419.3(HGSNAT):c.523dup (p.Ala175fs)	Mucopolysaccharidosis, MPS-III-C [RCV003787813]	pathogenic	8	43161466	43161467	Human	1	name
405034668	CV3093083	single nucleotide variant	NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)	Mucopolysaccharidosis, MPS-III-C [RCV003786434]	likely benign	8	43193759	43193759	Human	1	name
405035292	CV3093136	single nucleotide variant	NM_152419.3(HGSNAT):c.1878C>A (p.Leu626=)	Mucopolysaccharidosis, MPS-III-C [RCV003786487]	likely benign	8	43199539	43199539	Human	1	name
404992059	CV3094320	single nucleotide variant	NM_152419.3(HGSNAT):c.1485T>C (p.Tyr495=)	Mucopolysaccharidosis, MPS-III-C [RCV003782570]	likely benign	8	43196968	43196968	Human	1	name
405017987	CV3094348	single nucleotide variant	NM_152419.3(HGSNAT):c.1353C>T (p.His451=)	Mucopolysaccharidosis, MPS-III-C [RCV003785038]	likely benign	8	43192406	43192406	Human	1	name
405028201	CV3094859	single nucleotide variant	NM_152419.3(HGSNAT):c.1404T>C (p.Tyr468=)	Mucopolysaccharidosis, MPS-III-C [RCV003796221]	likely benign	8	43193783	43193783	Human	1	name
405055877	CV3095116	single nucleotide variant	NM_152419.3(HGSNAT):c.1510C>T (p.Leu504=)	Mucopolysaccharidosis, MPS-III-C [RCV003798430]	likely benign	8	43196993	43196993	Human	1	name
405011078	CV3096664	single nucleotide variant	NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)	Mucopolysaccharidosis, MPS-III-C [RCV003794653]	likely benign	8	43199461	43199461	Human	1	name
405027800	CV3098118	deletion	NM_152419.3(HGSNAT):c.451del (p.Cys151fs)	Mucopolysaccharidosis, MPS-III-C [RCV003806411]	pathogenic	8	43159002	43159002	Human	1	name
404979451	CV3099422	single nucleotide variant	NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)	Mucopolysaccharidosis, MPS-III-C [RCV003791250]	likely benign	8	43193795	43193795	Human	1	name
405003441	CV3102170	single nucleotide variant	NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)	Mucopolysaccharidosis, MPS-III-C [RCV003804216]	likely benign	8	43182227	43182227	Human	1	name
402524749	CV3102585	duplication	NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)	Mucopolysaccharidosis, MPS-III-C [RCV003790679]	pathogenic\|likely pathogenic	8	43170648	43170649	Human	1	name
404977691	CV3102741	single nucleotide variant	NM_152419.3(HGSNAT):c.1455A>G (p.Leu485=)	Mucopolysaccharidosis, MPS-III-C [RCV003790835]	likely benign	8	43193834	43193834	Human	1	name
405061417	CV3102865	single nucleotide variant	NM_152419.3(HGSNAT):c.1746A>G (p.Val582=)	Mucopolysaccharidosis, MPS-III-C [RCV003798855]	likely benign	8	43199407	43199407	Human	1	name
405043919	CV3103808	single nucleotide variant	NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)	Mucopolysaccharidosis, MPS-III-C [RCV003797526]	likely benign	8	43192397	43192397	Human	1	name
405169154	CV3104180	single nucleotide variant	NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)	Mucopolysaccharidosis, MPS-III-C [RCV003802857]	likely benign	8	43193798	43193798	Human	1	name
405170338	CV3104283	single nucleotide variant	NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)	Mucopolysaccharidosis, MPS-III-C [RCV003802960]	likely benign	8	43191540	43191540	Human	1	name
405015406	CV3104447	single nucleotide variant	NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)	Mucopolysaccharidosis, MPS-III-C [RCV003805316]	likely benign	8	43182158	43182158	Human	1	name
405173104	CV3104726	single nucleotide variant	NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)	Mucopolysaccharidosis, MPS-III-C [RCV003803224]	likely benign	8	43199467	43199467	Human	1	name
405009396	CV3105999	single nucleotide variant	NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)	Mucopolysaccharidosis, MPS-III-C [RCV003794497]	likely benign	8	43196963	43196963	Human	1	name
405016841	CV3107045	single nucleotide variant	NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)	Mucopolysaccharidosis, MPS-III-C [RCV003795215]	likely benign	8	43182236	43182236	Human	1	name
405056172	CV3107928	single nucleotide variant	NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)	Mucopolysaccharidosis, MPS-III-C [RCV003808674]	likely benign	8	43191566	43191566	Human	1	name
405037453	CV3108745	duplication	NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)	Mucopolysaccharidosis, MPS-III-C [RCV003807203]\|Mucopolysaccharidosis, MPS-III-C [RCV004573333]	pathogenic\|likely pathogenic	8	43161448	43161449	Human	1	name
405063818	CV3108790	single nucleotide variant	NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)	Mucopolysaccharidosis, MPS-III-C [RCV003809200]	likely benign	8	43197019	43197019	Human	1	name
405008848	CV3109013	single nucleotide variant	NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)	Mucopolysaccharidosis, MPS-III-C [RCV003804680]	likely benign	8	43182233	43182233	Human	1	name
405159996	CV3109757	single nucleotide variant	NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)	Mucopolysaccharidosis, MPS-III-C [RCV003802116]	likely benign	8	43197933	43197933	Human	1	name
405069949	CV3111150	single nucleotide variant	NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)	Mucopolysaccharidosis, MPS-III-C [RCV003809654]	pathogenic	8	43146956	43146956	Human	1	name
405124687	CV3111782	duplication	NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)	Mucopolysaccharidosis, MPS-III-C [RCV003815255]	pathogenic	8	43172357	43172358	Human	1	name
405082372	CV3113509	single nucleotide variant	NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)	Mucopolysaccharidosis, MPS-III-C [RCV003810526]	likely benign	8	43197918	43197918	Human	1	name
405107080	CV3113751	single nucleotide variant	NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)	Mucopolysaccharidosis, MPS-III-C [RCV003812874]	likely benign	8	43197852	43197852	Human	1	name
405080616	CV3114826	single nucleotide variant	NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)	Mucopolysaccharidosis, MPS-III-C [RCV003810389]	likely benign	8	43182194	43182194	Human	1	name
11605095	CV314511	single nucleotide variant	NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)	Inborn genetic diseases [RCV004984855]\|Mucopolysaccharidosis, MPS-III-C [RCV000316013]\|Mucopolysaccharidosis, MPS-III-C [RCV002058735]	likely benign\|uncertain significance	8	43158617	43158617	Human	2	name
11601683	CV314515	single nucleotide variant	NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)	Mucopolysaccharidosis, MPS-III-C [RCV000284148]\|Mucopolysaccharidosis, MPS-III-C [RCV001241541]	uncertain significance	8	43182260	43182260	Human	1	name
11602046	CV314517	single nucleotide variant	NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)	Mucopolysaccharidosis, MPS-III-C [RCV000287664]\|Mucopolysaccharidosis, MPS-III-C [RCV000932800]\|Retinal dystrophy [RCV003889871]\|not provided [RCV003422359]	benign\|likely benign\|uncertain significance	8	43192325	43192325	Human	3	name
11608479	CV314592	single nucleotide variant	NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)	Mucopolysaccharidosis, MPS-III-C [RCV000355499]\|Mucopolysaccharidosis, MPS-III-C [RCV000887168]\|Retinal dystrophy [RCV003889870]\|Retinitis pigmentosa 73 [RCV004799207]	likely benign\|uncertain significance	8	43147034	43147034	Human	4	name
11610052	CV314596	single nucleotide variant	NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)	Mucopolysaccharidosis, MPS-III-C [RCV000376064]\|Mucopolysaccharidosis, MPS-III-C [RCV002058736]	likely benign\|uncertain significance	8	43182212	43182212	Human	1	name
597693107	CV3685750	single nucleotide variant	NM_152419.3(HGSNAT):c.103G>A (p.Ala35Thr)	Inborn genetic diseases [RCV004985808]	uncertain significance	8	43140599	43140599	Human	1	name
597858801	CV3864841	single nucleotide variant	NM_152419.3(HGSNAT):c.1782C>T (p.Pro594=)	Mucopolysaccharidosis, MPS-III-C [RCV005213898]	likely benign	8	43199443	43199443	Human	1	name
597839020	CV3867627	single nucleotide variant	NM_152419.3(HGSNAT):c.1242G>A (p.Gly414=)	Mucopolysaccharidosis, MPS-III-C [RCV005210822]	likely benign	8	43191587	43191587	Human	1	name
597892057	CV3867989	single nucleotide variant	NM_152419.3(HGSNAT):c.1509C>T (p.Ile503=)	Mucopolysaccharidosis, MPS-III-C [RCV005219017]	likely benign	8	43196992	43196992	Human	1	name
597893421	CV3868163	single nucleotide variant	NM_152419.3(HGSNAT):c.1098T>C (p.Phe366=)	Mucopolysaccharidosis, MPS-III-C [RCV005219192]	likely benign	8	43182230	43182230	Human	1	name
597881478	CV3869133	single nucleotide variant	NM_152419.3(HGSNAT):c.1827G>A (p.Leu609=)	Mucopolysaccharidosis, MPS-III-C [RCV005217389]	likely benign	8	43199488	43199488	Human	1	name
597908355	CV3870458	single nucleotide variant	NM_152419.3(HGSNAT):c.1596A>G (p.Pro532=)	Mucopolysaccharidosis, MPS-III-C [RCV005221509]	likely benign	8	43197725	43197725	Human	1	name
597874261	CV3874877	single nucleotide variant	NM_152419.3(HGSNAT):c.1713A>G (p.Pro571=)	Mucopolysaccharidosis, MPS-III-C [RCV005216353]	likely benign	8	43197939	43197939	Human	1	name
597844454	CV3878774	single nucleotide variant	NM_152419.3(HGSNAT):c.1230G>A (p.Leu410=)	Mucopolysaccharidosis, MPS-III-C [RCV005227104]	likely benign	8	43191575	43191575	Human	1	name
12906409	CV415132	deletion	NM_152419.3(HGSNAT):c.739del (p.Arg247fs)	Mucopolysaccharidosis, MPS-III-C [RCV000666153]\|Mucopolysaccharidosis, MPS-III-C [RCV000691847]\|Sanfilippo syndrome [RCV003155215]\|not provided [RCV000489181]	pathogenic	8	43170690	43170690	Human	2	name
13486363	CV444286	single nucleotide variant	NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)	Mucopolysaccharidosis, MPS-III-C [RCV001829521]\|Mucopolysaccharidosis, MPS-III-C [RCV002525229]\|Retinal dystrophy [RCV003889920]\|not provided [RCV000522887]	likely benign\|uncertain significance	8	43158599	43158599	Human	3	name
13624942	CV523918	single nucleotide variant	NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=)	Mucopolysaccharidosis, MPS-III-C [RCV001497537]	likely benign	8	43192400	43192400	Human	1	name
14703211	CV637223	single nucleotide variant	NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)	Mucopolysaccharidosis, MPS-III-C [RCV000807281]	pathogenic\|likely pathogenic	8	43146993	43146993	Human	1	name
15182846	CV711548	single nucleotide variant	NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)	Mucopolysaccharidosis, MPS-III-C [RCV000974735]\|Mucopolysaccharidosis, MPS-III-C [RCV001275636]	likely benign	8	43197849	43197849	Human	1	name
15177602	CV723112	single nucleotide variant	NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)	Mucopolysaccharidosis, MPS-III-C [RCV000884864]\|Mucopolysaccharidosis, MPS-III-C [RCV001275631]	likely benign	8	43182155	43182155	Human	1	name
15126597	CV751176	single nucleotide variant	NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=)	Mucopolysaccharidosis, MPS-III-C [RCV000919352]\|Mucopolysaccharidosis, MPS-III-C [RCV001275634]	likely benign\|uncertain significance	8	43193789	43193789	Human	1	name
15145327	CV766834	single nucleotide variant	NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=)	Mucopolysaccharidosis, MPS-III-C [RCV001467202]	likely benign	8	43192367	43192367	Human	1	name
15127018	CV766835	single nucleotide variant	NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=)	Mucopolysaccharidosis, MPS-III-C [RCV001454264]	likely benign	8	43197843	43197843	Human	1	name
15100940	CV766836	single nucleotide variant	NM_152419.3(HGSNAT):c.1660C>T (p.Leu554=)	not provided [RCV000936707]	likely benign	8	43197886	43197886	Human		name
15114303	CV783116	single nucleotide variant	NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=)	Mucopolysaccharidosis, MPS-III-C [RCV001503301]	likely benign	8	43192328	43192328	Human	1	name
15120687	CV783117	single nucleotide variant	NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=)	Mucopolysaccharidosis, MPS-III-C [RCV000979334]	likely benign	8	43193771	43193771	Human	1	name
15119102	CV783118	single nucleotide variant	NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=)	Mucopolysaccharidosis, MPS-III-C [RCV001478720]	likely benign	8	43197870	43197870	Human	1	name
15130575	CV783119	single nucleotide variant	NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=)	Mucopolysaccharidosis, MPS-III-C [RCV001500665]	likely benign	8	43197876	43197876	Human	1	name
26921325	CV834781	single nucleotide variant	NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)	Mucopolysaccharidosis, MPS-III-C [RCV001060884]\|Mucopolysaccharidosis, MPS-III-C [RCV001275623]	uncertain significance	8	43146974	43146974	Human	1	name
26908564	CV834782	single nucleotide variant	NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)	Mucopolysaccharidosis, MPS-III-C [RCV001038340]	uncertain significance	8	43146983	43146983	Human	1	name
28872058	CV899647	single nucleotide variant	NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)	Mucopolysaccharidosis, MPS-III-C [RCV001164227]	uncertain significance	8	43158608	43158608	Human	1	name
28909536	CV899655	single nucleotide variant	NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)	Mucopolysaccharidosis, MPS-III-C [RCV001160692]\|Mucopolysaccharidosis, MPS-III-C [RCV001407361]	likely benign\|uncertain significance	8	43196971	43196971	Human	1	name
38489443	CV946078	single nucleotide variant	NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)	Mucopolysaccharidosis, MPS-III-C [RCV001238418]	uncertain significance	8	43158575	43158575	Human	1	name
38460538	CV946079	single nucleotide variant	NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)	Mucopolysaccharidosis, MPS-III-C [RCV001229370]\|Mucopolysaccharidosis, MPS-III-C [RCV001828831]	uncertain significance	8	43158624	43158624	Human	1	name
38457025	CV955423	single nucleotide variant	NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)	Mucopolysaccharidosis, MPS-III-C [RCV001245960]	uncertain significance	8	43147061	43147061	Human	1	name
38496769	CV955424	single nucleotide variant	NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)	Mucopolysaccharidosis, MPS-III-C [RCV001242771]\|Mucopolysaccharidosis, MPS-III-C [RCV001829001]	uncertain significance	8	43158624	43158624	Human	1	name
40889399	CV972012	single nucleotide variant	NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001264381]	likely pathogenic	8	43146986	43146986	Human	1	name
40888592	CV972013	single nucleotide variant	NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263599]	likely pathogenic	8	43147049	43147049	Human	1	name
40888593	CV972014	single nucleotide variant	NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263600]\|Mucopolysaccharidosis, MPS-III-C [RCV003770370]	pathogenic\|likely pathogenic	8	43158605	43158605	Human	1	name
40888594	CV972015	single nucleotide variant	NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263601]	likely pathogenic	8	43158623	43158623	Human	1	name
8654630	CV16270	duplication	NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)	Mucopolysaccharidosis, MPS-III-C [RCV000001290]\|Mucopolysaccharidosis, MPS-III-C [RCV001390806]\|Retinitis pigmentosa 73 [RCV000662072]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	43192397	43192398	Human	2	name
8595350	CV16271	single nucleotide variant	NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	Mucopolysaccharidosis, MPS-III-C [RCV000001291]\|Mucopolysaccharidosis, MPS-III-C [RCV000763184]\|Retinal dystrophy [RCV000504894]\|Retinitis pigmentosa 73 [RCV005252654]\|Sanfilippo syndrome [RCV003330379]\|not provided [RCV000512873]	pathogenic\|likely pathogenic	8	43173740	43173740	Human	5	name
8595351	CV16272	single nucleotide variant	NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter)	Mucopolysaccharidosis, MPS-III-C [RCV000001292]	pathogenic	8	43178184	43178184	Human	1	name
9688368	CV176990	single nucleotide variant	NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)	Mucopolysaccharidosis, MPS-III-C [RCV000670920]\|Mucopolysaccharidosis, MPS-III-C [RCV001243388]\|not provided [RCV001815238]\|not specified [RCV000153362]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	43170661	43170661	Human	1	name
156402185	CV1889292	single nucleotide variant	NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val)	Mucopolysaccharidosis, MPS-III-C [RCV003069262]	uncertain significance	8	43161503	43161503	Human	1	name
156448493	CV1950774	single nucleotide variant	NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met)	Mucopolysaccharidosis, MPS-III-C [RCV003120055]	uncertain significance	8	43161475	43161475	Human	1	name
156405362	CV1994367	single nucleotide variant	NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro)	Mucopolysaccharidosis, MPS-III-C [RCV002658288]	uncertain significance	8	43169213	43169213	Human	1	name
243056610	CV2418837	single nucleotide variant	NM_152419.3(HGSNAT):c.850T>C (p.Trp284Arg)	Mucopolysaccharidosis, MPS-III-C [RCV005060993]	likely pathogenic\|uncertain significance	8	43173742	43173742	Human	1	name
401774404	CV2691724	duplication	NM_152419.3(HGSNAT):c.1455dup (p.Gly486fs)	Inborn genetic diseases [RCV003285741]	pathogenic	8	43193833	43193834	Human	1	name
401889656	CV2758360	single nucleotide variant	NM_152419.3(HGSNAT):c.311G>C (p.Ser104Thr)	Inborn genetic diseases [RCV003368540]	uncertain significance	8	43158651	43158651	Human	1	name
404994291	CV3085260	single nucleotide variant	NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)	Mucopolysaccharidosis, MPS-III-C [RCV003782791]	likely pathogenic	8	43172384	43172384	Human	1	name
402512547	CV3087401	single nucleotide variant	NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)	Mucopolysaccharidosis, MPS-III-C [RCV003789752]	pathogenic\|likely pathogenic	8	43178074	43178074	Human	1	name
405021501	CV3088098	single nucleotide variant	NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met)	Mucopolysaccharidosis, MPS-III-C [RCV003795658]	uncertain significance	8	43178122	43178122	Human	1	name
405053246	CV3098010	deletion	NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)	Mucopolysaccharidosis, MPS-III-C [RCV003808423]	pathogenic	8	43140567	43140568	Human	1	name
404981646	CV3099964	single nucleotide variant	NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)	Mucopolysaccharidosis, MPS-III-C [RCV003791631]	pathogenic	8	43169219	43169219	Human	1	name
405108718	CV3112369	deletion	NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)	Mucopolysaccharidosis, MPS-III-C [RCV003813212]	pathogenic	8	43193779	43193779	Human	1	name
405104804	CV3113062	single nucleotide variant	NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)	Mucopolysaccharidosis, MPS-III-C [RCV003812352]	pathogenic	8	43161501	43161501	Human	1	name
405262818	CV3188376	single nucleotide variant	NM_152419.3(HGSNAT):c.448G>A (p.Ala150Thr)	Retinal dystrophy [RCV003889440]	uncertain significance	8	43158999	43158999	Human	2	name
405262821	CV3188378	single nucleotide variant	NM_152419.3(HGSNAT):c.636G>C (p.Glu212Asp)	Retinal dystrophy [RCV003889442]	uncertain significance	8	43170587	43170587	Human	2	name
405262822	CV3188379	single nucleotide variant	NM_152419.3(HGSNAT):c.652A>G (p.Arg218Gly)	Retinal dystrophy [RCV003889443]	uncertain significance	8	43170603	43170603	Human	2	name
405262956	CV3188381	single nucleotide variant	NM_152419.3(HGSNAT):c.801C>G (p.Phe267Leu)	Retinal dystrophy [RCV003889445]	uncertain significance	8	43172367	43172367	Human	2	name
405262957	CV3188382	single nucleotide variant	NM_152419.3(HGSNAT):c.820G>C (p.Gly274Arg)	Retinal dystrophy [RCV003889446]	uncertain significance	8	43172386	43172386	Human	2	name
405777198	CV3270078	single nucleotide variant	NM_152419.3(HGSNAT):c.693G>T (p.Trp231Cys)	Inborn genetic diseases [RCV004396995]	uncertain significance	8	43170644	43170644	Human	1	name
407521928	CV3437250	single nucleotide variant	NM_152419.3(HGSNAT):c.422A>G (p.Asn141Ser)	Inborn genetic diseases [RCV004630558]	uncertain significance	8	43158973	43158973	Human	1	name
596932376	CV3538996	single nucleotide variant	NM_152419.3(HGSNAT):c.782G>A (p.Gly261Glu)	not provided [RCV004793122]	uncertain significance	8	43172348	43172348	Human		name
596924974	CV3541754	single nucleotide variant	NM_152419.3(HGSNAT):c.743G>A (p.Gly248Glu)	Mucopolysaccharidosis, MPS-III-C [RCV004795465]	uncertain significance	8	43170694	43170694	Human	1	name
596947439	CV3548994	single nucleotide variant	NM_152419.3(HGSNAT):c.890T>A (p.Met297Lys)	not provided [RCV004811318]	uncertain significance	8	43178112	43178112	Human		name
597622959	CV3550894	deletion	NM_152419.3(HGSNAT):c.1351del (p.His451fs)	Mucopolysaccharidosis, MPS-III-C [RCV004819270]	pathogenic	8	43192404	43192404	Human	1	name
597830501	CV3735425	single nucleotide variant	NM_152419.3(HGSNAT):c.741G>T (p.Arg247Ser)	Mucopolysaccharidosis, MPS-III-C [RCV005055343]	likely pathogenic	8	43170692	43170692	Human	1	name
597835132	CV3864415	single nucleotide variant	NM_152419.3(HGSNAT):c.821G>C (p.Gly274Ala)	Mucopolysaccharidosis, MPS-III-C [RCV005210051]	uncertain significance	8	43173713	43173713	Human	1	name
597867001	CV3869009	deletion	NM_152419.3(HGSNAT):c.1242del (p.Cys415fs)	Mucopolysaccharidosis, MPS-III-C [RCV005215130]	pathogenic	8	43191585	43191585	Human	1	name
597900408	CV3876317	duplication	NM_152419.3(HGSNAT):c.1021dup (p.Asp341fs)	Mucopolysaccharidosis, MPS-III-C [RCV005220207]	pathogenic	8	43182150	43182151	Human	1	name
597915661	CV3879015	single nucleotide variant	NM_152419.3(HGSNAT):c.446T>C (p.Ile149Thr)	Mucopolysaccharidosis, MPS-III-C [RCV005222551]	uncertain significance	8	43158997	43158997	Human	1	name
598212546	CV4009061	single nucleotide variant	NM_152419.3(HGSNAT):c.517G>A (p.Gly173Ser)	Mucopolysaccharidosis, MPS-III-C [RCV005400675]	uncertain significance	8	43161461	43161461	Human	1	name
617151313	CV4021741	deletion	NM_152419.3(HGSNAT):c.1361del (p.Gln454fs)	not provided [RCV005426702]	pathogenic	8	43192414	43192414	Human		name
26888696	CV818746	single nucleotide variant	NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg)	Mucopolysaccharidosis [RCV001030802]	pathogenic\|not provided	8	43172350	43172350	Human	1	name
26913300	CV834783	single nucleotide variant	NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)	Mucopolysaccharidosis, MPS-III-C [RCV001054141]\|Mucopolysaccharidosis, MPS-III-C [RCV001275625]\|not provided [RCV004590064]	uncertain significance	8	43158666	43158666	Human	1	name
26919288	CV834784	single nucleotide variant	NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)	Mucopolysaccharidosis, MPS-III-C [RCV001058809]	uncertain significance	8	43158711	43158711	Human	1	name
26914233	CV834785	single nucleotide variant	NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)	Inborn genetic diseases [RCV003160436]\|Mucopolysaccharidosis, MPS-III-C [RCV001054838]\|Mucopolysaccharidosis, MPS-III-C [RCV001827348]	uncertain significance	8	43173718	43173718	Human	2	name
26909985	CV856587	single nucleotide variant	NM_152419.3(HGSNAT):c.791A>G (p.Tyr264Cys)	Retinal dystrophy [RCV001074237]	uncertain significance	8	43172357	43172357	Human	2	name
28872063	CV899648	single nucleotide variant	NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)	Mucopolysaccharidosis, MPS-III-C [RCV001164228]\|Mucopolysaccharidosis, MPS-III-C [RCV001246133]\|Retinal dystrophy [RCV004813819]\|not provided [RCV004590110]	uncertain significance	8	43159044	43159044	Human	3	name
28872072	CV899650	single nucleotide variant	NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)	Mucopolysaccharidosis, MPS-III-C [RCV001164231]\|Mucopolysaccharidosis, MPS-III-C [RCV001882526]\|not provided [RCV001796376]	likely benign\|uncertain significance	8	43170639	43170639	Human	1	name
28907116	CV899651	single nucleotide variant	NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)	Inborn genetic diseases [RCV002558408]\|Mucopolysaccharidosis, MPS-III-C [RCV001159324]\|Mucopolysaccharidosis, MPS-III-C [RCV002483906]	uncertain significance	8	43170661	43170661	Human	2	name
28907121	CV899652	single nucleotide variant	NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)	Mucopolysaccharidosis, MPS-III-C [RCV001159327]\|Mucopolysaccharidosis, MPS-III-C [RCV002558409]	uncertain significance	8	43178129	43178129	Human	1	name
34892089	CV915033	duplication	NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)	Mucopolysaccharidosis, MPS-III-C [RCV001383041]\|Mucopolysaccharidosis, MPS-III-C [RCV004570329]\|Retinitis pigmentosa 73 [RCV001250773]\|Sanfilippo syndrome [RCV001175525]	pathogenic\|likely pathogenic	8	43192319	43192320	Human	3	name
38485304	CV934320	single nucleotide variant	NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)	Mucopolysaccharidosis, MPS-III-C [RCV001208417]	uncertain significance	8	43158995	43158995	Human	1	name
38485545	CV946080	single nucleotide variant	NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)	Mucopolysaccharidosis, MPS-III-C [RCV001236796]\|Mucopolysaccharidosis, MPS-III-C [RCV001828884]\|not provided [RCV001312174]	uncertain significance	8	43158657	43158657	Human	1	name
38457726	CV946081	single nucleotide variant	NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)	Inborn genetic diseases [RCV005348372]\|Mucopolysaccharidosis, MPS-III-C [RCV001228708]\|Mucopolysaccharidosis, MPS-III-C [RCV001833978]	uncertain significance	8	43161477	43161477	Human	2	name
38471848	CV946082	single nucleotide variant	NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001231322]	pathogenic	8	43170630	43170630	Human	1	name
38498539	CV946083	single nucleotide variant	NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)	Mucopolysaccharidosis, MPS-III-C [RCV001227815]	uncertain significance	8	43178074	43178074	Human	1	name
38471363	CV946084	single nucleotide variant	NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)	Mucopolysaccharidosis, MPS-III-C [RCV001231200]	uncertain significance	8	43178162	43178162	Human	1	name
38494839	CV955425	single nucleotide variant	NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)	Mucopolysaccharidosis, MPS-III-C [RCV001241568]	uncertain significance	8	43159003	43159003	Human	1	name
38499539	CV955426	single nucleotide variant	NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)	Mucopolysaccharidosis, MPS-III-C [RCV001244770]\|Mucopolysaccharidosis, MPS-III-C [RCV001835212]	uncertain significance	8	43169228	43169228	Human	1	name
38457457	CV955427	single nucleotide variant	NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)	Mucopolysaccharidosis, MPS-III-C [RCV001247922]\|Mucopolysaccharidosis, MPS-III-C [RCV001835315]\|Retinitis pigmentosa 73 [RCV001250769]\|not provided [RCV002265017]	pathogenic\|likely pathogenic\|uncertain significance	8	43170666	43170666	Human	2	name
38457568	CV962889	single nucleotide variant	NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)	Mucopolysaccharidosis, MPS-III-C [RCV001879808]\|Retinitis pigmentosa 73 [RCV001250770]	likely pathogenic\|uncertain significance	8	43170694	43170694	Human	2	name
38457580	CV962892	deletion	NM_152419.3(HGSNAT):c.1708del (p.Thr570fs)	Retinitis pigmentosa 73 [RCV001250776]	pathogenic\|likely pathogenic	8	43197933	43197933	Human	1	name
38596858	CV963657	single nucleotide variant	NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val)	Intellectual disability [RCV001252518]\|Mucopolysaccharidosis, MPS-III-C [RCV001879857]	likely benign\|uncertain significance	8	43158668	43158668	Human	3	name
40888595	CV972016	single nucleotide variant	NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263602]\|Mucopolysaccharidosis, MPS-III-C [RCV003770371]	pathogenic\|likely pathogenic	8	43158942	43158942	Human	1	name
40888596	CV972017	single nucleotide variant	NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263603]	likely pathogenic	8	43158984	43158984	Human	1	name
40888597	CV972018	single nucleotide variant	NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263604]	likely pathogenic	8	43159020	43159020	Human	1	name
40888598	CV972019	single nucleotide variant	NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263605]	likely pathogenic	8	43172350	43172350	Human	1	name
40888599	CV972020	single nucleotide variant	NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)	Mucopolysaccharidosis, MPS-III-C [RCV001263606]\|Mucopolysaccharidosis, MPS-III-C [RCV001880063]\|Synovial plica syndrome [RCV002267635]	pathogenic\|likely pathogenic	8	43178147	43178147	Human	2	name

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