Slc6a5 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

834 records found for search term Slc6a5

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11602586	CV319759	single nucleotide variant	NM_004211.5(SLC6A5):c.-2A>G	Hyperekplexia [RCV000291892]	uncertain significance	11	20599671	20599671	Human	2	name
405268338	CV3198862	deletion	NM_004211.5(SLC6A5):c.*9del	SLC6A5-related disorder [RCV003911980]	likely benign	11	20654877	20654877	Human		name , trait , alternate_id
11626117	CV326948	single nucleotide variant	NM_004211.5(SLC6A5):c.*3C>T	Hyperekplexia [RCV000407325]\|SLC6A5-related disorder [RCV003977879]\|not provided [RCV001660592]	benign	11	20654871	20654871	Human	3	name , trait , alternate_id
151834057	CV1479260	single nucleotide variant	NM_004211.5(SLC6A5):c.4-9T>G	Hyperekplexia 3 [RCV002051011]	uncertain significance	11	20601120	20601120	Human	1	name
156362692	CV1900717	single nucleotide variant	NM_004211.5(SLC6A5):c.3+8T>A	Hyperekplexia 3 [RCV002581835]	likely benign	11	20599683	20599683	Human	1	name
156019652	CV2141151	single nucleotide variant	NM_004211.5(SLC6A5):c.3+1G>T	Hyperekplexia 3 [RCV002976089]	likely pathogenic	11	20599676	20599676	Human	1	name
11610087	CV319758	single nucleotide variant	NM_004211.5(SLC6A5):c.-33C>T	Hyperekplexia [RCV000376976]\|not provided [RCV001683224]	benign	11	20599640	20599640	Human	2	name
11624007	CV325934	single nucleotide variant	NM_004211.4(SLC6A5):c.-91A>G	Hyperekplexia [RCV000380671]	likely benign	11	20599582	20599582	Human	2	name
11619204	CV326886	single nucleotide variant	NM_004211.5(SLC6A5):c.-41G>T	Hyperekplexia [RCV000322512]	likely benign	11	20599632	20599632	Human	2	name
11618425	CV326956	single nucleotide variant	NM_004211.5(SLC6A5):c.*23G>T	Hyperekplexia [RCV000313953]	likely benign	11	20654891	20654891	Human	2	name
597900449	CV3783020	single nucleotide variant	NM_004211.5(SLC6A5):c.3+2T>C	Hyperekplexia 3 [RCV005127040]	likely pathogenic	11	20599677	20599677	Human	1	name
150442482	CV1287731	single nucleotide variant	NM_004211.5(SLC6A5):c.4-70A>G	not provided [RCV001725452]	benign	11	20601059	20601059	Human		name
152172921	CV1641778	single nucleotide variant	NM_004211.5(SLC6A5):c.3+20C>T	Hyperekplexia 3 [RCV002184003]	likely benign	11	20599695	20599695	Human	1	name
156053743	CV1878771	single nucleotide variant	NM_004211.5(SLC6A5):c.4-15A>G	Hyperekplexia 3 [RCV003053092]	likely benign	11	20601114	20601114	Human	1	name
156212259	CV2028468	single nucleotide variant	NM_004211.5(SLC6A5):c.3+16T>A	Hyperekplexia 3 [RCV002711808]	likely benign	11	20599691	20599691	Human	1	name
156176871	CV2051198	single nucleotide variant	NM_004211.5(SLC6A5):c.3+18T>G	Hyperekplexia 3 [RCV002802132]	likely benign	11	20599693	20599693	Human	1	name
405044955	CV2873355	single nucleotide variant	NM_004211.5(SLC6A5):c.4-13A>C	Hyperekplexia 3 [RCV003530721]	likely benign	11	20601116	20601116	Human	1	name
402510240	CV2949984	single nucleotide variant	NM_004211.5(SLC6A5):c.3+15T>C	Hyperekplexia 3 [RCV003646068]	likely benign	11	20599690	20599690	Human	1	name
11604582	CV313547	single nucleotide variant	NM_004211.4(SLC6A5):c.-192C>T	Hyperekplexia [RCV000310980]	benign	11	20599481	20599481	Human	2	name
11608519	CV313556	single nucleotide variant	NM_004211.4(SLC6A5):c.-181A>G	Hyperekplexia [RCV000356399]\|not provided [RCV004706836]	likely benign	11	20599492	20599492	Human	2	name
11598979	CV313557	single nucleotide variant	NM_004211.4(SLC6A5):c.-176T>G	Hyperekplexia [RCV000261613]\|not provided [RCV001683223]	benign	11	20599497	20599497	Human	2	name
11607704	CV313558	single nucleotide variant	NM_004211.5(SLC6A5):c.4-11T>C	Hyperekplexia 3 [RCV000346862]	conflicting interpretations of pathogenicity\|uncertain significance	11	20601118	20601118	Human	1	name
11603537	CV313619	single nucleotide variant	NM_004211.5(SLC6A5):c.*161G>T	Hyperekplexia [RCV000301135]\|not provided [RCV004706838]	likely benign	11	20655029	20655029	Human	2	name
405197833	CV3168315	single nucleotide variant	NM_004211.5(SLC6A5):c.4-12T>C	Hyperekplexia 3 [RCV003860447]	likely benign	11	20601117	20601117	Human	1	name
11600553	CV319757	single nucleotide variant	NM_004211.4(SLC6A5):c.-239A>G	Hyperekplexia [RCV000274638]	likely benign	11	20599434	20599434	Human	2	name
11609444	CV319801	single nucleotide variant	NM_004211.5(SLC6A5):c.*122C>T	Hyperekplexia [RCV000368517]	likely benign	11	20654990	20654990	Human	2	name
11618688	CV325930	single nucleotide variant	NM_004211.4(SLC6A5):c.-138G>A	Hyperekplexia [RCV000316725]	likely benign	11	20599535	20599535	Human	2	name
11645788	CV326885	deletion	NM_004211.4(SLC6A5):c.-82delG	Hyperekplexia [RCV000267462]	uncertain significance	11	20599591	20599591	Human	2	name
11614041	CV326958	single nucleotide variant	NM_004211.5(SLC6A5):c.*160C>T	Hyperekplexia [RCV000274017]	likely benign	11	20655028	20655028	Human	2	name
11622058	CV326962	single nucleotide variant	NM_004211.5(SLC6A5):c.*184T>C	Hyperekplexia [RCV000355906]	uncertain significance	11	20655052	20655052	Human	2	name
597965407	CV3823499	single nucleotide variant	NM_004211.5(SLC6A5):c.3+11G>C	Hyperekplexia 3 [RCV005164919]	likely benign	11	20599686	20599686	Human	1	name
127270132	CV1099760	single nucleotide variant	NM_004211.5(SLC6A5):c.541-6C>T	Hyperekplexia 3 [RCV001430512]	likely benign	11	20604280	20604280	Human	1	name
150415383	CV1198185	single nucleotide variant	NM_004211.5(SLC6A5):c.679+1G>T	not provided [RCV001575376]	pathogenic	11	20604425	20604425	Human		name
150486339	CV1225727	single nucleotide variant	NM_004211.5(SLC6A5):c.4-212A>C	not provided [RCV001617888]	benign	11	20600917	20600917	Human		name
150454240	CV1260631	single nucleotide variant	NM_004211.5(SLC6A5):c.4-146C>A	not provided [RCV001681124]	benign	11	20600983	20600983	Human		name
151721531	CV1419586	single nucleotide variant	NM_004211.5(SLC6A5):c.541-7C>T	Hyperekplexia 3 [RCV001983154]	likely benign	11	20604279	20604279	Human	1	name
151721063	CV1420957	single nucleotide variant	NM_004211.5(SLC6A5):c.679+3A>G	Hyperekplexia 3 [RCV002040085]	uncertain significance	11	20604427	20604427	Human	1	name
151763757	CV1447558	single nucleotide variant	NM_004211.5(SLC6A5):c.540+5G>A	Hyperekplexia 3 [RCV001895636]	uncertain significance	11	20601670	20601670	Human	1	name
151832408	CV1455898	single nucleotide variant	NM_004211.5(SLC6A5):c.541-9C>G	Hyperekplexia 3 [RCV002050851]	likely benign\|uncertain significance	11	20604277	20604277	Human	1	name
152134704	CV1571604	single nucleotide variant	NM_004211.5(SLC6A5):c.812-4G>T	Hyperekplexia 3 [RCV002177268]	likely benign	11	20607475	20607475	Human	1	name
152036893	CV1609929	single nucleotide variant	NM_004211.5(SLC6A5):c.680-4C>T	Hyperekplexia 3 [RCV002165096]	likely benign	11	20607003	20607003	Human	1	name
152156024	CV1629648	single nucleotide variant	NM_004211.5(SLC6A5):c.986-9C>T	Hyperekplexia 3 [RCV002202664]	likely benign	11	20614670	20614670	Human	1	name
152123588	CV1665569	single nucleotide variant	NM_004211.5(SLC6A5):c.679+7C>A	Hyperekplexia 3 [RCV002198382]	likely benign	11	20604431	20604431	Human	1	name
156097594	CV2004720	single nucleotide variant	NM_004211.5(SLC6A5):c.985+7T>C	Hyperekplexia 3 [RCV002639457]	likely benign	11	20607659	20607659	Human	1	name
155911537	CV2014728	single nucleotide variant	NM_004211.5(SLC6A5):c.811+8C>T	Hyperekplexia 3 [RCV002681758]	likely benign	11	20607146	20607146	Human	1	name
156080555	CV2022727	single nucleotide variant	NM_004211.5(SLC6A5):c.811+1G>T	Hyperekplexia 3 [RCV002760611]	pathogenic	11	20607139	20607139	Human	1	name
155939413	CV2054823	duplication	NM_004211.5(SLC6A5):c.811+2dup	Hyperekplexia 3 [RCV002815590]	uncertain significance	11	20607139	20607140	Human	1	name
156266846	CV2059645	single nucleotide variant	NM_004211.5(SLC6A5):c.985+1G>A	Hyperekplexia 3 [RCV002806522]	likely pathogenic	11	20607653	20607653	Human	1	name
401723418	CV2672120	duplication	NM_004211.5(SLC6A5):c.541-2dup	not provided [RCV003239021]	uncertain significance	11	20604283	20604284	Human		name
405044330	CV2875968	duplication	NM_004211.5(SLC6A5):c.541-3dup	Hyperekplexia 3 [RCV003530675]	benign	11	20604278	20604279	Human	1	name
402517524	CV3030251	single nucleotide variant	NM_004211.5(SLC6A5):c.680-2A>G	Hyperekplexia 3 [RCV003646729]	likely pathogenic	11	20607005	20607005	Human	1	name
405709648	CV3225665	single nucleotide variant	NM_004211.5(SLC6A5):c.811+1G>A	Hyperekplexia 3 [RCV003990723]	likely pathogenic	11	20607139	20607139	Human	1	name
13622934	CV526168	single nucleotide variant	NM_004211.5(SLC6A5):c.811+3G>A	Hyperekplexia 3 [RCV000650378]	uncertain significance	11	20607141	20607141	Human	1	name
14704201	CV652521	single nucleotide variant	NM_004211.5(SLC6A5):c.679+1G>A	Hyperekplexia 3 [RCV000807685]	likely pathogenic	11	20604425	20604425	Human	1	name
126741937	CV1017438	single nucleotide variant	NM_004211.5(SLC6A5):c.1738-8G>A	Hyperekplexia 3 [RCV001329825]	uncertain significance	11	20637164	20637164	Human	1	name
127250822	CV1056002	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+1G>T	Hyperekplexia 3 [RCV001378436]	likely pathogenic	11	20617885	20617885	Human	1	name
127333292	CV1121278	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-5T>C	Hyperekplexia 3 [RCV001472807]	likely benign	11	20626703	20626703	Human	1	name
127311746	CV1156670	single nucleotide variant	NM_004211.5(SLC6A5):c.811+16C>T	Hyperekplexia 3 [RCV001518736]\|not provided [RCV004718863]	benign	11	20607154	20607154	Human	1	name
150508066	CV1227047	single nucleotide variant	NM_004211.5(SLC6A5):c.680-74T>C	not provided [RCV001636120]	benign	11	20606933	20606933	Human		name
150492468	CV1266660	single nucleotide variant	NM_004211.5(SLC6A5):c.540+23C>T	not provided [RCV001687982]	benign	11	20601688	20601688	Human		name
150539134	CV1299929	single nucleotide variant	NM_004211.5(SLC6A5):c.1395+3G>C	not provided [RCV001765399]	uncertain significance	11	20626845	20626845	Human		name
151878552	CV1370108	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+5G>A	Hyperekplexia 3 [RCV001961348]	uncertain significance	11	20628088	20628088	Human	1	name
151835307	CV1418986	single nucleotide variant	NM_004211.5(SLC6A5):c.1737+3G>A	Hyperekplexia 3 [RCV001935488]	uncertain significance	11	20636422	20636422	Human	1	name
151763394	CV1471634	single nucleotide variant	NM_004211.5(SLC6A5):c.1970-9T>C	Hyperekplexia 3 [RCV001949409]	likely benign	11	20646825	20646825	Human	1	name
151720486	CV1498353	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+5G>A	Hyperekplexia 3 [RCV001965897]	uncertain significance	11	20617889	20617889	Human	1	name
152032477	CV1546304	duplication	NM_004211.5(SLC6A5):c.812-11dup	Hyperekplexia 3 [RCV002124754]	benign	11	20607463	20607464	Human	1	name
152120113	CV1547209	single nucleotide variant	NM_004211.5(SLC6A5):c.812-20T>G	Hyperekplexia 3 [RCV002154145]	likely benign	11	20607459	20607459	Human	1	name
152094073	CV1561412	single nucleotide variant	NM_004211.5(SLC6A5):c.1738-9C>T	Hyperekplexia 3 [RCV002094595]	likely benign	11	20637163	20637163	Human	1	name
152152158	CV1565057	single nucleotide variant	NM_004211.5(SLC6A5):c.540+14A>C	Hyperekplexia 3 [RCV002102391]	likely benign	11	20601679	20601679	Human	1	name
152091775	CV1567665	single nucleotide variant	NM_004211.5(SLC6A5):c.985+10G>C	Hyperekplexia 3 [RCV002212825]	likely benign	11	20607662	20607662	Human	1	name
152086356	CV1573871	single nucleotide variant	NM_004211.5(SLC6A5):c.541-15C>A	Hyperekplexia 3 [RCV002149978]	likely benign	11	20604271	20604271	Human	1	name
152099689	CV1595614	single nucleotide variant	NM_004211.5(SLC6A5):c.1625-7C>T	Hyperekplexia 3 [RCV002213834]	likely benign	11	20636300	20636300	Human	1	name
152168928	CV1598336	single nucleotide variant	NM_004211.5(SLC6A5):c.541-18G>A	Hyperekplexia 3 [RCV002142616]	likely benign	11	20604268	20604268	Human	1	name
152040214	CV1644549	single nucleotide variant	NM_004211.5(SLC6A5):c.812-15T>C	Hyperekplexia 3 [RCV002165574]	likely benign	11	20607464	20607464	Human	1	name
152129649	CV1650619	single nucleotide variant	NM_004211.5(SLC6A5):c.541-19T>C	Hyperekplexia 3 [RCV002118910]	likely benign	11	20604267	20604267	Human	1	name
156294202	CV1884059	single nucleotide variant	NM_004211.5(SLC6A5):c.680-18C>A	Hyperekplexia 3 [RCV003087618]	likely benign	11	20606989	20606989	Human	1	name
156086715	CV1899020	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-3T>C	Hyperekplexia 3 [RCV003080064]	uncertain significance	11	20626705	20626705	Human	1	name
156270256	CV1899368	single nucleotide variant	NM_004211.5(SLC6A5):c.811+17G>A	Hyperekplexia 3 [RCV003086755]	likely benign	11	20607155	20607155	Human	1	name
156017348	CV1912935	single nucleotide variant	NM_004211.5(SLC6A5):c.1500-4C>T	Hyperekplexia 3 [RCV002619212]	likely benign	11	20630687	20630687	Human	1	name
156172292	CV1930233	single nucleotide variant	NM_004211.5(SLC6A5):c.1624+5A>G	Hyperekplexia 3 [RCV002624750]	uncertain significance	11	20630820	20630820	Human	1	name
156441900	CV1941629	single nucleotide variant	NM_004211.5(SLC6A5):c.1870-5G>A	Hyperekplexia 3 [RCV003112233]	likely benign	11	20638454	20638454	Human	1	name
156128106	CV1953079	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+3A>G	Hyperekplexia 3 [RCV002572123]	uncertain significance	11	20628086	20628086	Human	1	name
156163223	CV2070736	single nucleotide variant	NM_004211.5(SLC6A5):c.1970-8A>G	Hyperekplexia 3 [RCV002851289]	likely benign	11	20646826	20646826	Human	1	name
156061836	CV2100039	single nucleotide variant	NM_004211.5(SLC6A5):c.811+14G>A	Hyperekplexia 3 [RCV002886535]	likely benign	11	20607152	20607152	Human	1	name
156114641	CV2117477	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+4T>A	Hyperekplexia 3 [RCV002953261]\|Inborn genetic diseases [RCV004067279]	uncertain significance	11	20628087	20628087	Human	2	name
156005370	CV2127359	single nucleotide variant	NM_004211.5(SLC6A5):c.540+18C>T	Hyperekplexia 3 [RCV002947993]	likely benign	11	20601683	20601683	Human	1	name
156152580	CV2131852	single nucleotide variant	NM_004211.5(SLC6A5):c.1969+1G>A	Hyperekplexia 3 [RCV002982705]	pathogenic	11	20638559	20638559	Human	1	name
155997172	CV2168775	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+9T>C	Hyperekplexia 3 [RCV003017106]	likely benign	11	20617893	20617893	Human	1	name
156205488	CV2179276	deletion	NM_004211.5(SLC6A5):c.2239-8del	Hyperekplexia 3 [RCV003024605]	likely benign	11	20654705	20654705	Human	1	name
156352693	CV2190497	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-5C>A	Hyperekplexia 3 [RCV003048455]	likely benign	11	20627975	20627975	Human	1	name
405045958	CV2893015	single nucleotide variant	NM_004211.5(SLC6A5):c.1869+9C>T	Hyperekplexia 3 [RCV003530824]	likely benign	11	20637312	20637312	Human	1	name
405035807	CV2932372	single nucleotide variant	NM_004211.5(SLC6A5):c.985+14T>C	Hyperekplexia 3 [RCV003529835]	likely benign	11	20607666	20607666	Human	1	name
405036764	CV2933238	single nucleotide variant	NM_004211.5(SLC6A5):c.812-18G>A	Hyperekplexia 3 [RCV003529888]	likely benign	11	20607461	20607461	Human	1	name
402514325	CV3001344	single nucleotide variant	NM_004211.5(SLC6A5):c.1624+7G>A	Hyperekplexia 3 [RCV003646435]	likely benign	11	20630822	20630822	Human	1	name
402514422	CV3001684	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-7C>A	Hyperekplexia 3 [RCV003646444]	likely benign	11	20627973	20627973	Human	1	name
402518044	CV3029294	single nucleotide variant	NM_004211.5(SLC6A5):c.2070+2T>G	Hyperekplexia 3 [RCV003646690]	likely pathogenic	11	20646936	20646936	Human	1	name
402519609	CV3053898	single nucleotide variant	NM_004211.5(SLC6A5):c.2071-7T>C	Hyperekplexia 3 [RCV003646891]	likely benign	11	20652282	20652282	Human	1	name
402519981	CV3054789	single nucleotide variant	NM_004211.5(SLC6A5):c.680-11C>A	Hyperekplexia 3 [RCV003646923]	likely benign	11	20606996	20606996	Human	1	name
402522000	CV3078271	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-9C>T	Hyperekplexia 3 [RCV003647094]	likely benign	11	20626699	20626699	Human	1	name
405211929	CV3117886	single nucleotide variant	NM_004211.5(SLC6A5):c.1625-9T>C	Hyperekplexia 3 [RCV003823485]	likely benign	11	20636298	20636298	Human	1	name
405090292	CV3118473	single nucleotide variant	NM_004211.5(SLC6A5):c.680-16C>T	Hyperekplexia 3 [RCV003811115]	likely benign	11	20606991	20606991	Human	1	name
405219863	CV3154327	single nucleotide variant	NM_004211.5(SLC6A5):c.985+16C>G	Hyperekplexia 3 [RCV003847019]	likely benign	11	20607668	20607668	Human	1	name
405155005	CV3159341	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-6T>C	Hyperekplexia 3 [RCV003856606]	likely benign	11	20627974	20627974	Human	1	name
405226196	CV3169375	single nucleotide variant	NM_004211.5(SLC6A5):c.812-20T>C	Hyperekplexia 3 [RCV003864399]	likely benign	11	20607459	20607459	Human	1	name
405214266	CV3170004	single nucleotide variant	NM_004211.5(SLC6A5):c.1970-4G>T	Hyperekplexia 3 [RCV003862609]	likely benign	11	20646830	20646830	Human	1	name
405255336	CV3172317	single nucleotide variant	NM_004211.5(SLC6A5):c.540+20G>A	Hyperekplexia 3 [RCV003872255]	likely benign	11	20601685	20601685	Human	1	name
402505574	CV3181573	single nucleotide variant	NM_004211.5(SLC6A5):c.679+13C>T	Hyperekplexia 3 [RCV003878407]	likely benign	11	20604437	20604437	Human	1	name
11601600	CV319798	single nucleotide variant	NM_004211.5(SLC6A5):c.2239-6T>C	Hyperekplexia 3 [RCV000283867]\|not provided [RCV001642939]	benign	11	20654707	20654707	Human	1	name
11618700	CV326944	single nucleotide variant	NM_004211.5(SLC6A5):c.2071-3C>A	Hyperekplexia 3 [RCV000316806]\|SLC6A5-related disorder [RCV003977878]\|not provided [RCV001718614]	benign	11	20652286	20652286	Human	1	name , trait , alternate_id
597837775	CV3758093	single nucleotide variant	NM_004211.5(SLC6A5):c.2071-1G>A	Hyperekplexia 3 [RCV005085927]	likely pathogenic	11	20652288	20652288	Human	1	name
597897951	CV3782465	single nucleotide variant	NM_004211.5(SLC6A5):c.680-20C>G	Hyperekplexia 3 [RCV005126690]	likely benign	11	20606987	20606987	Human	1	name
597899308	CV3796405	single nucleotide variant	NM_004211.5(SLC6A5):c.1624+2T>C	Hyperekplexia 3 [RCV005152488]	likely pathogenic	11	20630817	20630817	Human	1	name
597970496	CV3801978	deletion	NM_004211.5(SLC6A5):c.680-13del	Hyperekplexia 3 [RCV005141770]	likely benign	11	20606994	20606994	Human	1	name
597872684	CV3805366	single nucleotide variant	NM_004211.5(SLC6A5):c.986-13C>T	Hyperekplexia 3 [RCV005148644]	likely benign	11	20614666	20614666	Human	1	name
597925860	CV3808794	single nucleotide variant	NM_004211.5(SLC6A5):c.986-18C>T	Hyperekplexia 3 [RCV005156309]	likely benign	11	20614661	20614661	Human	1	name
597874248	CV3816812	single nucleotide variant	NM_004211.5(SLC6A5):c.540+13C>T	Hyperekplexia 3 [RCV005148865]	likely benign	11	20601678	20601678	Human	1	name
597912663	CV3817312	single nucleotide variant	NM_004211.5(SLC6A5):c.1738-1G>C	Hyperekplexia 3 [RCV005154514]	likely pathogenic	11	20637171	20637171	Human	1	name
597966521	CV3823805	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-8C>T	Hyperekplexia 3 [RCV005165225]	likely benign	11	20627972	20627972	Human	1	name
597965316	CV3827637	single nucleotide variant	NM_004211.5(SLC6A5):c.1127+8G>T	Hyperekplexia 3 [RCV005164892]	likely benign	11	20614828	20614828	Human	1	name
597976419	CV3829614	single nucleotide variant	NM_004211.5(SLC6A5):c.679+20T>C	Hyperekplexia 3 [RCV005169881]	likely benign	11	20604444	20604444	Human	1	name
597875057	CV3846432	single nucleotide variant	NM_004211.5(SLC6A5):c.985+17C>G	Hyperekplexia 3 [RCV005177315]	likely benign	11	20607669	20607669	Human	1	name
14693467	CV620831	single nucleotide variant	NM_004211.5(SLC6A5):c.2070+1G>A	Hyperekplexia 3 [RCV000779055]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	20646935	20646935	Human	1	name
14720666	CV652168	single nucleotide variant	NM_004211.5(SLC6A5):c.1969+4A>T	Hyperekplexia 3 [RCV000796748]	conflicting interpretations of pathogenicity\|uncertain significance	11	20638562	20638562	Human	1	name
28909330	CV868687	single nucleotide variant	NM_004211.5(SLC6A5):c.1624+9C>T	Hyperekplexia 3 [RCV001108308]	conflicting interpretations of pathogenicity\|uncertain significance	11	20630824	20630824	Human	1	name
150339846	CV1168239	single nucleotide variant	NM_004211.5(SLC6A5):c.541-284G>A	not provided [RCV001534662]	benign	11	20604002	20604002	Human		name
150513986	CV1210801	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-75C>T	not provided [RCV001598842]	benign	11	20626633	20626633	Human		name
150436679	CV1220585	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+35A>C	not provided [RCV001609569]	benign	11	20617919	20617919	Human		name
150495368	CV1225057	single nucleotide variant	NM_004211.5(SLC6A5):c.1969+45C>T	not provided [RCV001619535]	benign	11	20638603	20638603	Human		name
150494074	CV1238795	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+27A>G	not provided [RCV001655339]	benign	11	20617911	20617911	Human		name
150503074	CV1241719	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-78G>A	not provided [RCV001657310]	benign	11	20627902	20627902	Human		name
150484050	CV1245218	single nucleotide variant	NM_004211.5(SLC6A5):c.1127+45C>T	not provided [RCV001653395]	benign	11	20614865	20614865	Human		name
150437783	CV1249928	single nucleotide variant	NM_004211.5(SLC6A5):c.679+136C>G	not provided [RCV001665842]	benign	11	20604560	20604560	Human		name
150490758	CV1251080	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+49G>A	Hyperekplexia 3 [RCV001810217]\|not provided [RCV001674748]	benign	11	20617933	20617933	Human	1	name
150495270	CV1256601	single nucleotide variant	NM_004211.5(SLC6A5):c.1395+30C>T	Hyperekplexia 3 [RCV001810221]\|not provided [RCV001675566]	benign	11	20626872	20626872	Human	1	name
150493303	CV1257527	single nucleotide variant	NM_004211.5(SLC6A5):c.680-182A>G	not provided [RCV001675200]	benign	11	20606825	20606825	Human		name
150454959	CV1266106	single nucleotide variant	NM_004211.5(SLC6A5):c.541-285T>C	not provided [RCV001692683]	benign	11	20604001	20604001	Human	1	name
150454959	CV1266106	single nucleotide variant	NM_004211.5(SLC6A5):c.541-285T>C	not provided [RCV001692683]	benign	11	20604001	20604002	Human	1	name
150445962	CV1271796	single nucleotide variant	NM_004211.5(SLC6A5):c.680-146C>G	not provided [RCV001691210]	benign	11	20606861	20606861	Human		name
150508483	CV1284293	single nucleotide variant	NM_004211.5(SLC6A5):c.1738-39C>A	Hyperekplexia 3 [RCV001810295]\|not provided [RCV001720401]	benign	11	20637133	20637133	Human	1	name
151749165	CV1430291	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+15T>G	Hyperekplexia 3 [RCV002006678]	uncertain significance	11	20628098	20628098	Human	1	name
152111794	CV1520474	single nucleotide variant	NM_004211.5(SLC6A5):c.1625-11G>C	Hyperekplexia 3 [RCV002196872]	likely benign	11	20636296	20636296	Human	1	name
152082733	CV1525203	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+13A>G	Hyperekplexia 3 [RCV002131028]	likely benign	11	20628096	20628096	Human	1	name
152074661	CV1533735	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-16C>G	Hyperekplexia 3 [RCV002075566]	likely benign	11	20627964	20627964	Human	1	name
152031414	CV1548715	single nucleotide variant	NM_004211.5(SLC6A5):c.1738-15C>T	Hyperekplexia 3 [RCV002086361]	likely benign	11	20637157	20637157	Human	1	name
152067345	CV1557232	single nucleotide variant	NM_004211.5(SLC6A5):c.1500-20C>T	Hyperekplexia 3 [RCV002191336]	likely benign	11	20630671	20630671	Human	1	name
152148340	CV1576980	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+13A>G	Hyperekplexia 3 [RCV002179060]	likely benign	11	20617897	20617897	Human	1	name
152046060	CV1600261	single nucleotide variant	NM_004211.5(SLC6A5):c.1869+10C>T	Hyperekplexia 3 [RCV002088559]	likely benign	11	20637313	20637313	Human	1	name
152118580	CV1600551	single nucleotide variant	NM_004211.5(SLC6A5):c.1128-11C>A	Hyperekplexia 3 [RCV002153962]	likely benign	11	20617741	20617741	Human	1	name
152138107	CV1603854	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+18T>C	Hyperekplexia 3 [RCV002218999]	likely benign	11	20617902	20617902	Human	1	name
152144954	CV1616396	single nucleotide variant	NM_004211.5(SLC6A5):c.1969+20T>C	Hyperekplexia 3 [RCV002120888]	likely benign	11	20638578	20638578	Human	1	name
152141233	CV1618664	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-19C>A	Hyperekplexia 3 [RCV002156794]	likely benign	11	20626689	20626689	Human	1	name
152043483	CV1621878	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-12T>C	Hyperekplexia 3 [RCV002108055]	likely benign	11	20626696	20626696	Human	1	name
152075458	CV1629414	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+16T>C	Hyperekplexia 3 [RCV002130154]	likely benign	11	20617900	20617900	Human	1	name
152125492	CV1630207	single nucleotide variant	NM_004211.5(SLC6A5):c.1128-15C>G	Hyperekplexia 3 [RCV002154813]	likely benign	11	20617737	20617737	Human	1	name
152132207	CV1633337	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-17G>A	Hyperekplexia 3 [RCV002137068]	likely benign	11	20626691	20626691	Human	1	name
152135322	CV1634424	single nucleotide variant	NM_004211.5(SLC6A5):c.1969+16T>C	Hyperekplexia 3 [RCV002218637]	likely benign	11	20638574	20638574	Human	1	name
152170644	CV1651223	single nucleotide variant	NM_004211.5(SLC6A5):c.1969+19C>T	Hyperekplexia 3 [RCV002143183]	likely benign	11	20638577	20638577	Human	1	name
156259898	CV1960597	single nucleotide variant	NM_004211.5(SLC6A5):c.1625-13T>G	Hyperekplexia 3 [RCV002576811]	likely benign	11	20636294	20636294	Human	1	name
156412117	CV1969215	single nucleotide variant	NM_004211.5(SLC6A5):c.2070+16G>A	Hyperekplexia 3 [RCV002587711]	likely benign	11	20646950	20646950	Human	1	name
156024789	CV2037170	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-15C>T	Hyperekplexia 3 [RCV002795760]	likely benign	11	20627965	20627965	Human	1	name
156142007	CV2040872	single nucleotide variant	NM_004211.5(SLC6A5):c.1970-10C>A	Hyperekplexia 3 [RCV002786557]	likely benign\|uncertain significance	11	20646824	20646824	Human	1	name
156291085	CV2065006	single nucleotide variant	NM_004211.5(SLC6A5):c.1500-13C>T	Hyperekplexia 3 [RCV002856754]	likely benign	11	20630678	20630678	Human	1	name
156105152	CV2075836	single nucleotide variant	NM_004211.5(SLC6A5):c.1625-10T>C	Hyperekplexia 3 [RCV002870681]	likely benign	11	20636297	20636297	Human	1	name
155956114	CV2086987	single nucleotide variant	NM_004211.5(SLC6A5):c.1624+19C>G	Hyperekplexia 3 [RCV002862612]	likely benign	11	20630834	20630834	Human	1	name
405046617	CV2889779	single nucleotide variant	NM_004211.5(SLC6A5):c.1870-18G>T	Hyperekplexia 3 [RCV003530852]	likely benign	11	20638441	20638441	Human	1	name
405049432	CV2903888	single nucleotide variant	NM_004211.5(SLC6A5):c.1395+16T>C	Hyperekplexia 3 [RCV003531093]	likely benign	11	20626858	20626858	Human	1	name
402512096	CV2975862	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-19T>A	Hyperekplexia 3 [RCV003646262]	likely benign	11	20627961	20627961	Human	1	name
402512130	CV2976129	single nucleotide variant	NM_004211.5(SLC6A5):c.1869+16G>A	Hyperekplexia 3 [RCV003646265]	likely benign	11	20637319	20637319	Human	1	name
402517676	CV3020075	single nucleotide variant	NM_004211.5(SLC6A5):c.2071-11T>C	Hyperekplexia 3 [RCV003646742]	likely benign	11	20652278	20652278	Human	1	name
402519251	CV3042644	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-13T>A	Hyperekplexia 3 [RCV003646838]	likely benign	11	20627967	20627967	Human	1	name
402519579	CV3053801	single nucleotide variant	NM_004211.5(SLC6A5):c.1127+19T>C	Hyperekplexia 3 [RCV003646889]	likely benign	11	20614839	20614839	Human	1	name
405050616	CV3138043	deletion	NM_004211.5(SLC6A5):c.1395+16del	Hyperekplexia 3 [RCV003832081]	benign	11	20626855	20626855	Human	1	name
405252202	CV3177660	single nucleotide variant	NM_004211.5(SLC6A5):c.1500-16G>T	Hyperekplexia 3 [RCV003870618]	likely benign	11	20630675	20630675	Human	1	name
405227725	CV3180248	single nucleotide variant	NM_004211.5(SLC6A5):c.1625-10T>G	Hyperekplexia 3 [RCV003864668]	likely benign	11	20636297	20636297	Human	1	name
11599976	CV319779	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+15T>C	Hyperekplexia 3 [RCV000269515]\|not provided [RCV001672444]	benign	11	20628098	20628098	Human	1	name
597850585	CV3737250	single nucleotide variant	NM_004211.5(SLC6A5):c.1395+12A>G	Hyperekplexia 3 [RCV005066216]	likely benign	11	20626854	20626854	Human	1	name
597947093	CV3755711	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-19T>C	Hyperekplexia 3 [RCV005078721]	likely benign	11	20627961	20627961	Human	1	name
597856509	CV3758804	single nucleotide variant	NM_004211.5(SLC6A5):c.1738-20A>G	Hyperekplexia 3 [RCV005088764]	likely benign	11	20637152	20637152	Human	1	name
597845926	CV3761633	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-12T>C	Hyperekplexia 3 [RCV005087233]	likely benign	11	20627968	20627968	Human	1	name
597907373	CV3773206	single nucleotide variant	NM_004211.5(SLC6A5):c.1738-11C>T	Hyperekplexia 3 [RCV005113271]	likely benign	11	20637161	20637161	Human	1	name
597928869	CV3816060	deletion	NM_004211.5(SLC6A5):c.2071-11del	Hyperekplexia 3 [RCV005156641]	benign	11	20652275	20652275	Human	1	name
597855952	CV3816529	single nucleotide variant	NM_004211.5(SLC6A5):c.1970-16G>C	Hyperekplexia 3 [RCV005146101]	likely benign	11	20646818	20646818	Human	1	name
597947737	CV3817945	single nucleotide variant	NM_004211.5(SLC6A5):c.1870-15T>C	Hyperekplexia 3 [RCV005160412]	likely benign	11	20638444	20638444	Human	1	name
597969828	CV3832049	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-13A>G	Hyperekplexia 3 [RCV005166305]	likely benign	11	20626695	20626695	Human	1	name
150332981	CV1169453	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+222A>G	not provided [RCV001537104]	benign	11	20618106	20618106	Human		name
150516070	CV1216429	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+233C>T	not provided [RCV001608620]	benign	11	20628316	20628316	Human		name
150476631	CV1218506	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-122G>A	not provided [RCV001616133]	benign	11	20627858	20627858	Human		name
150478915	CV1218869	single nucleotide variant	NM_004211.5(SLC6A5):c.1870-248G>A	not provided [RCV001616497]	benign	11	20638211	20638211	Human		name
150491961	CV1225389	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-299C>T	not provided [RCV001618904]	benign	11	20627681	20627681	Human		name
150516629	CV1227158	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-121C>G	not provided [RCV001639256]	benign	11	20626587	20626587	Human		name
150460743	CV1231385	single nucleotide variant	NM_004211.5(SLC6A5):c.1969+167C>T	not provided [RCV001640950]	benign	11	20638725	20638725	Human		name
150461014	CV1234723	single nucleotide variant	NM_004211.5(SLC6A5):c.2239-191T>C	not provided [RCV001649305]	benign	11	20654522	20654522	Human		name
150457580	CV1237093	single nucleotide variant	NM_004211.5(SLC6A5):c.1499+211G>T	not provided [RCV001648772]	benign	11	20628294	20628294	Human		name
150490157	CV1239064	single nucleotide variant	NM_004211.5(SLC6A5):c.1737+212C>G	not provided [RCV001654632]	benign	11	20636631	20636631	Human		name
150503055	CV1241714	single nucleotide variant	NM_004211.5(SLC6A5):c.1395+168C>A	not provided [RCV001657305]	benign	11	20627010	20627010	Human		name
150431463	CV1243704	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-234G>A	not provided [RCV001663324]	benign	11	20626474	20626474	Human		name
150446648	CV1250696	single nucleotide variant	NM_004211.5(SLC6A5):c.1128-237C>T	not provided [RCV001667201]	benign	11	20617515	20617515	Human		name
150473697	CV1252449	single nucleotide variant	NM_004211.5(SLC6A5):c.1128-236G>A	not provided [RCV001671651]	benign	11	20617516	20617516	Human		name
150470962	CV1258705	single nucleotide variant	NM_004211.5(SLC6A5):c.1624+259C>A	not provided [RCV001684251]	benign	11	20631074	20631074	Human		name
150481777	CV1258978	single nucleotide variant	NM_004211.5(SLC6A5):c.2071-187A>T	not provided [RCV001686108]	benign	11	20652102	20652102	Human		name
150483639	CV1263023	single nucleotide variant	NM_004211.5(SLC6A5):c.1261-302C>T	not provided [RCV001686423]	benign	11	20626406	20626406	Human		name
150443303	CV1266377	single nucleotide variant	NM_004211.5(SLC6A5):c.2071-304T>C	not provided [RCV001690813]	benign	11	20651985	20651985	Human		name
150493163	CV1267090	single nucleotide variant	NM_004211.5(SLC6A5):c.1970-277C>T	not provided [RCV001688117]	benign	11	20646557	20646557	Human		name
150456821	CV1269128	single nucleotide variant	NM_004211.5(SLC6A5):c.1128-255A>G	not provided [RCV001692952]	benign	11	20617497	20617497	Human		name
150457362	CV1269479	single nucleotide variant	NM_004211.5(SLC6A5):c.1625-250C>T	not provided [RCV001693019]	benign	11	20636057	20636057	Human		name
150471856	CV1270159	single nucleotide variant	NM_004211.5(SLC6A5):c.1396-277C>T	not provided [RCV001695447]	benign	11	20627703	20627703	Human		name
150496406	CV1272887	single nucleotide variant	NM_004211.5(SLC6A5):c.1260+201G>A	not provided [RCV001688810]	benign	11	20618085	20618085	Human		name
150462293	CV1272990	single nucleotide variant	NM_004211.5(SLC6A5):c.1970-315G>T	not provided [RCV001693747]	benign	11	20646519	20646519	Human		name
155988334	CV2159911	deletion	NM_004211.5(SLC6A5):c.3+8_3+11del	Hyperekplexia 3 [RCV003034208]	likely benign	11	20599681	20599684	Human	1	name
402511803	CV2974604	insertion	NM_004211.5(SLC6A5):c.4-8_4-7insCTC	Hyperekplexia 3 [RCV003646212]	likely benign	11	20601121	20601122	Human	1	name
152089487	CV1581512	single nucleotide variant	NM_004211.5(SLC6A5):c.21G>A (p.Lys7=)	Hyperekplexia 3 [RCV002077510]	likely benign	11	20601146	20601146	Human	1	name
152098504	CV1639907	single nucleotide variant	NM_004211.5(SLC6A5):c.18C>T (p.Pro6=)	Hyperekplexia 3 [RCV002078674]	likely benign	11	20601143	20601143	Human	1	name
127294757	CV1121279	deletion	NM_004211.5(SLC6A5):c.1738-8_1738-7del	Hyperekplexia 3 [RCV001476911]\|SLC6A5-related disorder [RCV003938851]	likely benign	11	20637164	20637165	Human	1	name , trait , alternate_id
127319768	CV1142137	single nucleotide variant	NM_004211.5(SLC6A5):c.45C>T (p.Asn15=)	Hyperekplexia 3 [RCV001504165]	likely benign	11	20601170	20601170	Human	1	name
152077077	CV1632825	single nucleotide variant	NM_004211.5(SLC6A5):c.66G>A (p.Ala22=)	Hyperekplexia 3 [RCV002170063]	likely benign	11	20601191	20601191	Human	1	name
152146623	CV1649588	single nucleotide variant	NM_004211.5(SLC6A5):c.51G>A (p.Pro17=)	Hyperekplexia 3 [RCV002121148]	likely benign	11	20601176	20601176	Human	1	name
155913024	CV2065872	single nucleotide variant	NM_004211.5(SLC6A5):c.78G>A (p.Pro26=)	Hyperekplexia 3 [RCV002837850]	likely benign	11	20601203	20601203	Human	1	name
155964979	CV2085552	single nucleotide variant	NM_004211.5(SLC6A5):c.81T>C (p.Asp27=)	Hyperekplexia 3 [RCV002881208]	likely benign	11	20601206	20601206	Human	1	name
243050918	CV2415620	deletion	NM_004211.5(SLC6A5):c.1436_1737+314del	Hyperekplexia 3 [RCV003148220]	likely pathogenic	11	20628018	20636731	Human	1	name
405053492	CV2928263	single nucleotide variant	NM_004211.5(SLC6A5):c.72C>T (p.Gly24=)	Hyperekplexia 3 [RCV003531371]	likely benign	11	20601197	20601197	Human	1	name
11663094	CV319760	single nucleotide variant	NM_004211.5(SLC6A5):c.96C>T (p.Pro32=)	Hyperekplexia 3 [RCV002056189]\|Hyperekplexia [RCV000392439]	likely benign\|uncertain significance	11	20601221	20601221	Human	3	name
13504603	CV444771	single nucleotide variant	NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)	Hyperekplexia 3 [RCV001857938]\|not provided [RCV000522358]	pathogenic\|likely pathogenic	11	20601134	20601134	Human	1	name
15134684	CV717948	single nucleotide variant	NM_004211.5(SLC6A5):c.57G>T (p.Ala19=)	Hyperekplexia 3 [RCV001510776]	benign	11	20601182	20601182	Human	1	name
127325600	CV1142138	single nucleotide variant	NM_004211.5(SLC6A5):c.201G>A (p.Ala67=)	Hyperekplexia 3 [RCV001485840]	likely benign	11	20601326	20601326	Human	1	name
151887833	CV1406516	single nucleotide variant	NM_004211.5(SLC6A5):c.267G>T (p.Ala89=)	Hyperekplexia 3 [RCV001963068]\|SLC6A5-related disorder [RCV003941226]	likely benign	11	20601392	20601392	Human	1	name , trait , alternate_id
151795571	CV1449022	single nucleotide variant	NM_004211.5(SLC6A5):c.27G>A (p.Met9Ile)	Hyperekplexia 3 [RCV001990474]	uncertain significance	11	20601152	20601152	Human	1	name
152083877	CV1525402	single nucleotide variant	NM_004211.5(SLC6A5):c.249T>C (p.Ser83=)	Hyperekplexia 3 [RCV002131179]	likely benign	11	20601374	20601374	Human	1	name
152149641	CV1545426	single nucleotide variant	NM_004211.5(SLC6A5):c.183T>G (p.Thr61=)	Hyperekplexia 3 [RCV002121561]	likely benign	11	20601308	20601308	Human	1	name
152146811	CV1545782	single nucleotide variant	NM_004211.5(SLC6A5):c.246C>T (p.Leu82=)	Hyperekplexia 3 [RCV002157560]	likely benign	11	20601371	20601371	Human	1	name
152122136	CV1554779	single nucleotide variant	NM_004211.5(SLC6A5):c.102G>T (p.Thr34=)	Hyperekplexia 3 [RCV002198197]	benign	11	20601227	20601227	Human	1	name
152029606	CV1568566	single nucleotide variant	NM_004211.5(SLC6A5):c.225A>G (p.Pro75=)	Hyperekplexia 3 [RCV002186221]	likely benign	11	20601350	20601350	Human	1	name
156416525	CV1901396	single nucleotide variant	NM_004211.5(SLC6A5):c.132C>A (p.Ala44=)	Hyperekplexia 3 [RCV002610220]	likely benign	11	20601257	20601257	Human	1	name
156418098	CV1914416	single nucleotide variant	NM_004211.5(SLC6A5):c.261G>C (p.Ala87=)	Hyperekplexia 3 [RCV002611273]	likely benign	11	20601386	20601386	Human	1	name
155955375	CV1915362	single nucleotide variant	NM_004211.5(SLC6A5):c.144G>C (p.Pro48=)	Hyperekplexia 3 [RCV002616446]	likely benign	11	20601269	20601269	Human	1	name
156358150	CV2006763	single nucleotide variant	NM_004211.5(SLC6A5):c.228A>T (p.Gly76=)	Hyperekplexia 3 [RCV002676064]	likely benign	11	20601353	20601353	Human	1	name
156214045	CV2038929	single nucleotide variant	NM_004211.5(SLC6A5):c.261G>A (p.Ala87=)	Hyperekplexia 3 [RCV002766717]	likely benign	11	20601386	20601386	Human	1	name
156127745	CV2043122	single nucleotide variant	NM_004211.5(SLC6A5):c.123C>A (p.Pro41=)	Hyperekplexia 3 [RCV002800490]	likely benign	11	20601248	20601248	Human	1	name
155919384	CV2073624	single nucleotide variant	NM_004211.5(SLC6A5):c.252C>T (p.Ser84=)	Hyperekplexia 3 [RCV002838236]	likely benign	11	20601377	20601377	Human	1	name
156380733	CV2117972	single nucleotide variant	NM_004211.5(SLC6A5):c.261G>T (p.Ala87=)	Hyperekplexia 3 [RCV002943119]	likely benign	11	20601386	20601386	Human	1	name
155964605	CV2141072	single nucleotide variant	NM_004211.5(SLC6A5):c.135C>T (p.Ala45=)	Hyperekplexia 3 [RCV003015635]	likely benign	11	20601260	20601260	Human	1	name
156303766	CV2146602	single nucleotide variant	NM_004211.5(SLC6A5):c.162C>A (p.Ser54=)	Hyperekplexia 3 [RCV003028219]	likely benign	11	20601287	20601287	Human	1	name
156265479	CV2170143	single nucleotide variant	NM_004211.5(SLC6A5):c.195G>A (p.Ala65=)	Hyperekplexia 3 [RCV003026803]	likely benign	11	20601320	20601320	Human	1	name
402518522	CV3037594	single nucleotide variant	NM_004211.5(SLC6A5):c.283C>A (p.Arg95=)	Hyperekplexia 3 [RCV003646779]	likely benign	11	20601408	20601408	Human	1	name
402519063	CV3039527	single nucleotide variant	NM_004211.5(SLC6A5):c.264G>A (p.Gln88=)	Hyperekplexia 3 [RCV003646824]	likely benign	11	20601389	20601389	Human	1	name
11624782	CV326901	single nucleotide variant	NM_004211.5(SLC6A5):c.150T>G (p.Arg50=)	Hyperekplexia 3 [RCV002056190]\|Hyperekplexia [RCV000390888]	likely benign	11	20601275	20601275	Human	3	name
597915110	CV3778966	single nucleotide variant	NM_004211.5(SLC6A5):c.132C>G (p.Ala44=)	Hyperekplexia 3 [RCV005129311]	likely benign	11	20601257	20601257	Human	1	name
597919398	CV3781104	single nucleotide variant	NM_004211.5(SLC6A5):c.280C>T (p.Leu94=)	Hyperekplexia 3 [RCV005129986]	likely benign	11	20601405	20601405	Human	1	name
597943988	CV3847809	single nucleotide variant	NM_004211.5(SLC6A5):c.204A>G (p.Arg68=)	Hyperekplexia 3 [RCV005188537]	likely benign	11	20601329	20601329	Human	1	name
597856232	CV3849673	single nucleotide variant	NM_004211.5(SLC6A5):c.126G>T (p.Ala42=)	Hyperekplexia 3 [RCV005195181]	likely benign	11	20601251	20601251	Human	1	name
15161625	CV758708	single nucleotide variant	NM_004211.5(SLC6A5):c.171C>T (p.Thr57=)	not provided [RCV000925722]	likely benign	11	20601296	20601296	Human		name
15163805	CV758709	single nucleotide variant	NM_004211.5(SLC6A5):c.234G>A (p.Gly78=)	not provided [RCV000926221]	likely benign	11	20601359	20601359	Human		name
126763094	CV1030159	single nucleotide variant	NM_004211.5(SLC6A5):c.52G>C (p.Glu18Gln)	Hyperekplexia 3 [RCV001341156]	uncertain significance	11	20601177	20601177	Human	1	name
126911776	CV1047140	single nucleotide variant	NM_004211.5(SLC6A5):c.76C>T (p.Pro26Ser)	Hyperekplexia 3 [RCV001369391]\|Inborn genetic diseases [RCV004968144]	uncertain significance	11	20601201	20601201	Human	2	name
127246200	CV1078094	single nucleotide variant	NM_004211.5(SLC6A5):c.309G>T (p.Ala103=)	Hyperekplexia 3 [RCV001416699]	likely benign	11	20601434	20601434	Human	1	name
127230011	CV1078095	single nucleotide variant	NM_004211.5(SLC6A5):c.435T>C (p.Asn145=)	Hyperekplexia 3 [RCV001412292]	likely benign	11	20601560	20601560	Human	1	name
127332961	CV1121277	single nucleotide variant	NM_004211.5(SLC6A5):c.715C>T (p.Leu239=)	Hyperekplexia 3 [RCV001472596]	likely benign	11	20607042	20607042	Human	1	name
127310908	CV1156671	duplication	NM_004211.5(SLC6A5):c.1260+20_1260+23dup	Hyperekplexia 3 [RCV001518438]\|not provided [RCV001658215]	benign	11	20617903	20617904	Human	1	name
150494805	CV1256524	deletion	NM_004211.5(SLC6A5):c.1500-88_1500-87del	not provided [RCV001675489]	benign	11	20630603	20630604	Human		name
151801726	CV1338117	single nucleotide variant	NM_004211.5(SLC6A5):c.327C>A (p.Pro109=)	Hyperekplexia 3 [RCV001932373]	likely benign\|uncertain significance	11	20601452	20601452	Human	1	name
151795975	CV1355912	single nucleotide variant	NM_004211.5(SLC6A5):c.76C>A (p.Pro26Thr)	Hyperekplexia 3 [RCV002027648]	uncertain significance	11	20601201	20601201	Human	1	name
151840097	CV1377376	single nucleotide variant	NM_004211.5(SLC6A5):c.516C>T (p.Gly172=)	Hyperekplexia 3 [RCV001936004]	likely benign\|uncertain significance	11	20601641	20601641	Human	1	name
151843317	CV1379873	single nucleotide variant	NM_004211.5(SLC6A5):c.513G>A (p.Pro171=)	Hyperekplexia 3 [RCV001936383]	likely benign\|uncertain significance	11	20601638	20601638	Human	1	name
151755010	CV1433729	single nucleotide variant	NM_004211.5(SLC6A5):c.753G>T (p.Leu251=)	Hyperekplexia 3 [RCV002043667]	likely benign	11	20607080	20607080	Human	1	name
151778599	CV1477184	single nucleotide variant	NM_004211.5(SLC6A5):c.61G>A (p.Ala21Thr)	Hyperekplexia 3 [RCV001897029]	uncertain significance	11	20601186	20601186	Human	1	name
151857089	CV1491240	single nucleotide variant	NM_004211.5(SLC6A5):c.90C>A (p.Cys30Ter)	Hyperekplexia 3 [RCV001958731]	pathogenic	11	20601215	20601215	Human	1	name
151744066	CV1507697	single nucleotide variant	NM_004211.5(SLC6A5):c.373C>T (p.Leu125=)	Hyperekplexia 3 [RCV001968441]	likely benign	11	20601498	20601498	Human	1	name
152117011	CV1523953	single nucleotide variant	NM_004211.5(SLC6A5):c.375G>T (p.Leu125=)	Hyperekplexia 3 [RCV002135222]	likely benign	11	20601500	20601500	Human	1	name
152141815	CV1526564	single nucleotide variant	NM_004211.5(SLC6A5):c.726A>G (p.Leu242=)	Hyperekplexia 3 [RCV002084255]	likely benign	11	20607053	20607053	Human	1	name
152147656	CV1528640	single nucleotide variant	NM_004211.5(SLC6A5):c.498C>T (p.Ile166=)	Hyperekplexia 3 [RCV002101729]	likely benign	11	20601623	20601623	Human	1	name
152043865	CV1534338	single nucleotide variant	NM_004211.5(SLC6A5):c.855A>C (p.Ile285=)	Hyperekplexia 3 [RCV002088315]	likely benign	11	20607522	20607522	Human	1	name
152146805	CV1545779	single nucleotide variant	NM_004211.5(SLC6A5):c.921C>T (p.Pro307=)	Hyperekplexia 3 [RCV002157559]	likely benign	11	20607588	20607588	Human	1	name
152079450	CV1549981	single nucleotide variant	NM_004211.5(SLC6A5):c.429G>T (p.Arg143=)	Hyperekplexia 3 [RCV002192841]	likely benign	11	20601554	20601554	Human	1	name
152160781	CV1555172	single nucleotide variant	NM_004211.5(SLC6A5):c.993T>C (p.Cys331=)	Hyperekplexia 3 [RCV002103753]	likely benign	11	20614686	20614686	Human	1	name
152112246	CV1558930	single nucleotide variant	NM_004211.5(SLC6A5):c.892C>T (p.Leu298=)	Hyperekplexia 3 [RCV002134632]	likely benign	11	20607559	20607559	Human	1	name
152171396	CV1562417	single nucleotide variant	NM_004211.5(SLC6A5):c.528C>T (p.Thr176=)	Hyperekplexia 3 [RCV002183485]	likely benign	11	20601653	20601653	Human	1	name
152112873	CV1573383	single nucleotide variant	NM_004211.5(SLC6A5):c.327C>T (p.Pro109=)	Hyperekplexia 3 [RCV002215731]	likely benign	11	20601452	20601452	Human	1	name
152124504	CV1587432	single nucleotide variant	NM_004211.5(SLC6A5):c.813C>T (p.Gly271=)	Hyperekplexia 3 [RCV002136145]	likely benign	11	20607480	20607480	Human	1	name
152080890	CV1589323	single nucleotide variant	NM_004211.5(SLC6A5):c.822C>T (p.Ile274=)	Hyperekplexia 3 [RCV002112734]	likely benign	11	20607489	20607489	Human	1	name
152067810	CV1592227	single nucleotide variant	NM_004211.5(SLC6A5):c.807A>G (p.Leu269=)	Hyperekplexia 3 [RCV002168902]	likely benign	11	20607134	20607134	Human	1	name
152149982	CV1601623	single nucleotide variant	NM_004211.5(SLC6A5):c.438C>A (p.Thr146=)	Hyperekplexia 3 [RCV002158031]	likely benign	11	20601563	20601563	Human	1	name
152053450	CV1619422	single nucleotide variant	NM_004211.5(SLC6A5):c.477G>C (p.Val159=)	Hyperekplexia 3 [RCV002167155]	likely benign	11	20601602	20601602	Human	1	name
152133223	CV1621603	single nucleotide variant	NM_004211.5(SLC6A5):c.351G>C (p.Ala117=)	Hyperekplexia 3 [RCV002218364]	likely benign	11	20601476	20601476	Human	1	name
152048440	CV1627549	single nucleotide variant	NM_004211.5(SLC6A5):c.798C>T (p.Ile266=)	Hyperekplexia 3 [RCV002108633]	likely benign	11	20607125	20607125	Human	1	name
152108569	CV1634929	single nucleotide variant	NM_004211.5(SLC6A5):c.916C>T (p.Leu306=)	Hyperekplexia 3 [RCV002079934]	likely benign	11	20607583	20607583	Human	1	name
152091396	CV1646841	single nucleotide variant	NM_004211.5(SLC6A5):c.534C>T (p.Ala178=)	Hyperekplexia 3 [RCV002150636]	likely benign	11	20601659	20601659	Human	1	name
152145552	CV1658364	single nucleotide variant	NM_004211.5(SLC6A5):c.825G>A (p.Ala275=)	Hyperekplexia 3 [RCV002219986]	likely benign	11	20607492	20607492	Human	1	name
152119457	CV1659210	single nucleotide variant	NM_004211.5(SLC6A5):c.390G>A (p.Gly130=)	Hyperekplexia 3 [RCV002175372]	likely benign	11	20601515	20601515	Human	1	name
152125474	CV1665802	single nucleotide variant	NM_004211.5(SLC6A5):c.546C>T (p.Asp182=)	Hyperekplexia 3 [RCV002198615]	likely benign	11	20604291	20604291	Human	1	name
155716725	CV1774215	single nucleotide variant	NM_004211.5(SLC6A5):c.83G>A (p.Gly28Asp)	Hyperekplexia 3 [RCV002296481]	uncertain significance	11	20601208	20601208	Human	1	name
156329339	CV1887603	single nucleotide variant	NM_004211.5(SLC6A5):c.693C>T (p.Ile231=)	Hyperekplexia 3 [RCV003089696]	likely benign	11	20607020	20607020	Human	1	name
156035229	CV1890113	single nucleotide variant	NM_004211.5(SLC6A5):c.711G>A (p.Leu237=)	Hyperekplexia 3 [RCV003078286]	likely benign	11	20607038	20607038	Human	1	name
156372876	CV1905683	single nucleotide variant	NM_004211.5(SLC6A5):c.336C>G (p.Ser112=)	Hyperekplexia 3 [RCV003092605]	likely benign	11	20601461	20601461	Human	1	name
156078655	CV1908797	single nucleotide variant	NM_004211.5(SLC6A5):c.384G>A (p.Pro128=)	Hyperekplexia 3 [RCV002591502]	likely benign	11	20601509	20601509	Human	1	name
156419568	CV1977512	single nucleotide variant	NM_004211.5(SLC6A5):c.675G>C (p.Gly225=)	Hyperekplexia 3 [RCV002612805]	uncertain significance	11	20604420	20604420	Human	1	name
155962181	CV2023753	single nucleotide variant	NM_004211.5(SLC6A5):c.489G>T (p.Thr163=)	Hyperekplexia 3 [RCV002731228]	likely benign	11	20601614	20601614	Human	1	name
156023811	CV2025576	single nucleotide variant	NM_004211.5(SLC6A5):c.709C>T (p.Leu237=)	Hyperekplexia 3 [RCV002735500]	likely benign	11	20607036	20607036	Human	1	name
156268741	CV2026767	single nucleotide variant	NM_004211.5(SLC6A5):c.942T>G (p.Pro314=)	Hyperekplexia 3 [RCV002746563]	likely benign	11	20607609	20607609	Human	1	name
156233843	CV2048886	single nucleotide variant	NM_004211.5(SLC6A5):c.86C>T (p.Pro29Leu)	Hyperekplexia 3 [RCV002791098]\|Inborn genetic diseases [RCV005281230]	uncertain significance	11	20601211	20601211	Human	2	name
156311098	CV2063413	single nucleotide variant	NM_004211.5(SLC6A5):c.85C>T (p.Pro29Ser)	Hyperekplexia 3 [RCV002834125]	uncertain significance	11	20601210	20601210	Human	1	name
156140854	CV2109914	single nucleotide variant	NM_004211.5(SLC6A5):c.351G>A (p.Ala117=)	Hyperekplexia 3 [RCV002928550]	likely benign	11	20601476	20601476	Human	1	name
156097696	CV2116935	single nucleotide variant	NM_004211.5(SLC6A5):c.555G>A (p.Gly185=)	Hyperekplexia 3 [RCV002952616]	likely benign	11	20604300	20604300	Human	1	name
155935224	CV2125618	single nucleotide variant	NM_004211.5(SLC6A5):c.480G>T (p.Val160=)	Hyperekplexia 3 [RCV002970891]	likely benign	11	20601605	20601605	Human	1	name
156361592	CV2158876	single nucleotide variant	NM_004211.5(SLC6A5):c.28A>C (p.Asn10His)	Hyperekplexia 3 [RCV003031603]	uncertain significance	11	20601153	20601153	Human	1	name
156337936	CV2178338	single nucleotide variant	NM_004211.5(SLC6A5):c.474C>G (p.Thr158=)	Hyperekplexia 3 [RCV003047581]	likely benign	11	20601599	20601599	Human	1	name
405041022	CV2858379	single nucleotide variant	NM_004211.5(SLC6A5):c.318G>C (p.Ser106=)	Hyperekplexia 3 [RCV003530419]	likely benign	11	20601443	20601443	Human	1	name
405039960	CV2863747	single nucleotide variant	NM_004211.5(SLC6A5):c.805C>T (p.Leu269=)	Hyperekplexia 3 [RCV003530332]	likely benign	11	20607132	20607132	Human	1	name
405046643	CV2889932	single nucleotide variant	NM_004211.5(SLC6A5):c.501G>A (p.Thr167=)	Hyperekplexia 3 [RCV003530854]	likely benign	11	20601626	20601626	Human	1	name
405053347	CV2931003	single nucleotide variant	NM_004211.5(SLC6A5):c.840T>C (p.Ser280=)	Hyperekplexia 3 [RCV003531360]	likely benign	11	20607507	20607507	Human	1	name
402512706	CV2984414	single nucleotide variant	NM_004211.5(SLC6A5):c.330G>A (p.Gly110=)	Hyperekplexia 3 [RCV003646314]	likely benign	11	20601455	20601455	Human	1	name
402514377	CV2991411	single nucleotide variant	NM_004211.5(SLC6A5):c.630G>T (p.Gly210=)	Hyperekplexia 3 [RCV003646440]	likely benign	11	20604375	20604375	Human	1	name
402514221	CV2994521	single nucleotide variant	NM_004211.5(SLC6A5):c.573A>T (p.Arg191=)	Hyperekplexia 3 [RCV003646426]	likely benign	11	20604318	20604318	Human	1	name
402515091	CV2997347	single nucleotide variant	NM_004211.5(SLC6A5):c.504C>G (p.Ser168=)	Hyperekplexia 3 [RCV003646525]	likely benign	11	20601629	20601629	Human	1	name
402515970	CV3010056	single nucleotide variant	NM_004211.5(SLC6A5):c.927C>G (p.Gly309=)	Hyperekplexia 3 [RCV003646603]	likely benign	11	20607594	20607594	Human	1	name
402516962	CV3017958	single nucleotide variant	NM_004211.5(SLC6A5):c.699C>T (p.Tyr233=)	Hyperekplexia 3 [RCV003646659]	likely benign	11	20607026	20607026	Human	1	name
402517832	CV3019140	single nucleotide variant	NM_004211.5(SLC6A5):c.387G>A (p.Glu129=)	Hyperekplexia 3 [RCV003646706]	likely benign	11	20601512	20601512	Human	1	name
402517844	CV3022942	single nucleotide variant	NM_004211.5(SLC6A5):c.876C>T (p.Cys292=)	Hyperekplexia 3 [RCV003646705]	likely benign	11	20607543	20607543	Human	1	name
402517101	CV3025181	single nucleotide variant	NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter)	Hyperekplexia 3 [RCV003646670]	pathogenic	11	20601156	20601156	Human	1	name
402520116	CV3043501	single nucleotide variant	NM_004211.5(SLC6A5):c.528C>A (p.Thr176=)	Hyperekplexia 3 [RCV003646875]	likely benign	11	20601653	20601653	Human	1	name
402519990	CV3054813	single nucleotide variant	NM_004211.5(SLC6A5):c.450C>G (p.Gly150=)	Hyperekplexia 3 [RCV003646924]	likely benign	11	20601575	20601575	Human	1	name
11612135	CV313581	single nucleotide variant	NM_004211.5(SLC6A5):c.336C>T (p.Ser112=)	Hyperekplexia 3 [RCV001517784]\|Hyperekplexia [RCV000404538]\|not provided [RCV004718406]\|not specified [RCV001528316]	benign	11	20601461	20601461	Human	3	name
11604029	CV313583	single nucleotide variant	NM_004211.5(SLC6A5):c.342C>G (p.Pro114=)	Hyperekplexia 3 [RCV000650380]\|Hyperekplexia [RCV000305417]\|not provided [RCV003992267]	benign\|likely benign	11	20601467	20601467	Human	3	name
11599380	CV313586	single nucleotide variant	NM_004211.5(SLC6A5):c.352C>T (p.Leu118=)	Hyperekplexia 3 [RCV001514591]\|Hyperekplexia [RCV000265297]\|not provided [RCV004718407]\|not specified [RCV001528467]	benign	11	20601477	20601477	Human	3	name
11606503	CV313589	single nucleotide variant	NM_004211.5(SLC6A5):c.777A>G (p.Pro259=)	Hyperekplexia 3 [RCV001510164]\|Hyperekplexia [RCV000332516]\|not provided [RCV001597055]	benign	11	20607104	20607104	Human	3	name
11606968	CV313593	single nucleotide variant	NM_004211.5(SLC6A5):c.951G>A (p.Thr317=)	Hyperekplexia 3 [RCV001514592]\|Hyperekplexia [RCV000338104]\|SLC6A5-related disorder [RCV003977877]\|not provided [RCV004718412]	benign	11	20607618	20607618	Human	3	name , trait , alternate_id
405193076	CV3157170	single nucleotide variant	NM_004211.5(SLC6A5):c.306C>T (p.Gly102=)	Hyperekplexia 3 [RCV003859858]	likely benign	11	20601431	20601431	Human	1	name
402517113	CV3179022	single nucleotide variant	NM_004211.5(SLC6A5):c.777A>T (p.Pro259=)	Hyperekplexia 3 [RCV003879455]	likely benign	11	20607104	20607104	Human	1	name
11621800	CV325935	single nucleotide variant	NM_004211.5(SLC6A5):c.95C>T (p.Pro32Leu)	Hyperekplexia 3 [RCV001850612]\|Hyperekplexia [RCV000352386]	likely benign	11	20601220	20601220	Human	3	name
11624171	CV326890	single nucleotide variant	NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val)	Hyperekplexia 3 [RCV001245247]\|Hyperekplexia [RCV000382839]\|not provided [RCV001764270]	likely benign\|uncertain significance	11	20601184	20601184	Human	3	name
11615664	CV326892	single nucleotide variant	NM_004211.5(SLC6A5):c.77C>T (p.Pro26Leu)	Hyperekplexia [RCV000288143]	uncertain significance	11	20601202	20601202	Human	2	name
597856572	CV3758813	single nucleotide variant	NM_004211.5(SLC6A5):c.360T>C (p.Cys120=)	Hyperekplexia 3 [RCV005088773]	likely benign	11	20601485	20601485	Human	1	name
597963409	CV3791938	single nucleotide variant	NM_004211.5(SLC6A5):c.996T>C (p.Val332=)	Hyperekplexia 3 [RCV005139494]	likely benign	11	20614689	20614689	Human	1	name
597955880	CV3796342	single nucleotide variant	NM_004211.5(SLC6A5):c.421C>T (p.Leu141=)	Hyperekplexia 3 [RCV005137160]	likely benign	11	20601546	20601546	Human	1	name
597957655	CV3800557	single nucleotide variant	NM_004211.5(SLC6A5):c.867G>A (p.Val289=)	Hyperekplexia 3 [RCV005137649]	likely benign	11	20607534	20607534	Human	1	name
597929037	CV3816219	single nucleotide variant	NM_004211.5(SLC6A5):c.942T>A (p.Pro314=)	Hyperekplexia 3 [RCV005156800]	likely benign	11	20607609	20607609	Human	1	name
597931876	CV3827168	single nucleotide variant	NM_004211.5(SLC6A5):c.982T>C (p.Leu328=)	Hyperekplexia 3 [RCV005157181]	likely benign	11	20607649	20607649	Human	1	name
597921378	CV3839436	single nucleotide variant	NM_004211.5(SLC6A5):c.381C>T (p.Gly127=)	Hyperekplexia 3 [RCV005184368]	likely benign	11	20601506	20601506	Human	1	name
597920185	CV3842701	single nucleotide variant	NM_004211.5(SLC6A5):c.756C>T (p.Gly252=)	Hyperekplexia 3 [RCV005184186]	likely benign	11	20607083	20607083	Human	1	name
597933943	CV3844783	single nucleotide variant	NM_004211.5(SLC6A5):c.927C>A (p.Gly309=)	Hyperekplexia 3 [RCV005186289]	likely benign	11	20607594	20607594	Human	1	name
15158311	CV743552	single nucleotide variant	NM_004211.5(SLC6A5):c.750G>A (p.Ser250=)	Hyperekplexia 3 [RCV001512975]	benign	11	20607077	20607077	Human	1	name
15192236	CV774307	single nucleotide variant	NM_004211.5(SLC6A5):c.621C>T (p.Tyr207=)	Hyperekplexia 3 [RCV001409578]	likely benign	11	20604366	20604366	Human	1	name
15100334	CV774308	single nucleotide variant	NM_004211.5(SLC6A5):c.739T>C (p.Leu247=)	Hyperekplexia 3 [RCV001428758]	likely benign	11	20607066	20607066	Human	1	name
38490216	CV929864	single nucleotide variant	NM_004211.5(SLC6A5):c.98G>C (p.Arg33Thr)	Hyperekplexia 3 [RCV001222051]\|not provided [RCV004695211]	uncertain significance	11	20601223	20601223	Human	1	name
126742996	CV1020854	single nucleotide variant	NM_004211.5(SLC6A5):c.187C>T (p.Gln63Ter)	Hyperekplexia 3 [RCV001972589]\|not provided [RCV002225954]	pathogenic\|uncertain significance	11	20601312	20601312	Human	1	name
126736928	CV1030160	single nucleotide variant	NM_004211.5(SLC6A5):c.194C>A (p.Ala65Glu)	Hyperekplexia 3 [RCV001350288]	uncertain significance	11	20601319	20601319	Human	1	name
127241718	CV1078096	single nucleotide variant	NM_004211.5(SLC6A5):c.1602C>T (p.Asn534=)	Hyperekplexia 3 [RCV001398057]	likely benign	11	20630793	20630793	Human	1	name
127254607	CV1099761	single nucleotide variant	NM_004211.5(SLC6A5):c.1470T>C (p.Ser490=)	Hyperekplexia 3 [RCV001426339]	likely benign	11	20628054	20628054	Human	1	name
127335395	CV1121280	single nucleotide variant	NM_004211.5(SLC6A5):c.2377C>T (p.Leu793=)	Hyperekplexia 3 [RCV001474274]	likely benign	11	20654851	20654851	Human	1	name
127301535	CV1142139	single nucleotide variant	NM_004211.5(SLC6A5):c.1323C>T (p.Val441=)	Hyperekplexia 3 [RCV001478731]	likely benign	11	20626770	20626770	Human	1	name
150546508	CV1301056	single nucleotide variant	NM_004211.5(SLC6A5):c.194C>G (p.Ala65Gly)	not provided [RCV001763539]	uncertain significance	11	20601319	20601319	Human		name
150546771	CV1313896	deletion	NM_004211.5(SLC6A5):c.975del (p.Lys325fs)	Hyperekplexia 3 [RCV003221344]	pathogenic\|likely pathogenic	11	20607640	20607640	Human	1	name
151890658	CV1350606	single nucleotide variant	NM_004211.5(SLC6A5):c.1914C>T (p.Ser638=)	Hyperekplexia 3 [RCV002038871]	likely benign	11	20638503	20638503	Human	1	name
151750457	CV1360814	single nucleotide variant	NM_004211.5(SLC6A5):c.139C>A (p.Pro47Thr)	Hyperekplexia 3 [RCV001894278]	uncertain significance	11	20601264	20601264	Human	1	name
151848245	CV1362051	single nucleotide variant	NM_004211.5(SLC6A5):c.1170C>T (p.Gly390=)	Hyperekplexia 3 [RCV001937007]	likely benign\|uncertain significance	11	20617794	20617794	Human	1	name
151860638	CV1369182	single nucleotide variant	NM_004211.5(SLC6A5):c.172G>C (p.Gly58Arg)	Hyperekplexia 3 [RCV002034320]	uncertain significance	11	20601297	20601297	Human	1	name
151835673	CV1374813	single nucleotide variant	NM_004211.5(SLC6A5):c.1632C>T (p.Gly544=)	Hyperekplexia 3 [RCV001920948]	likely benign\|uncertain significance	11	20636314	20636314	Human	1	name
151750114	CV1377451	single nucleotide variant	NM_004211.5(SLC6A5):c.149G>A (p.Arg50His)	Hyperekplexia 3 [RCV001948058]	uncertain significance	11	20601274	20601274	Human	1	name
151845052	CV1381573	single nucleotide variant	NM_004211.5(SLC6A5):c.1749C>A (p.Ile583=)	Hyperekplexia 3 [RCV001881832]	likely benign\|uncertain significance	11	20637183	20637183	Human	1	name
151711117	CV1394940	single nucleotide variant	NM_004211.5(SLC6A5):c.1275G>A (p.Thr425=)	Hyperekplexia 3 [RCV001964314]	likely benign\|uncertain significance	11	20626722	20626722	Human	1	name
151891990	CV1403410	single nucleotide variant	NM_004211.5(SLC6A5):c.272C>T (p.Ser91Phe)	Hyperekplexia 3 [RCV001943642]	uncertain significance	11	20601397	20601397	Human	1	name
151858729	CV1406444	single nucleotide variant	NM_004211.5(SLC6A5):c.1077C>T (p.Phe359=)	Hyperekplexia 3 [RCV001958938]\|SLC6A5-related disorder [RCV003958446]	likely benign	11	20614770	20614770	Human	1	name , trait , alternate_id
151779673	CV1408327	single nucleotide variant	NM_004211.5(SLC6A5):c.197A>T (p.Asp66Val)	Hyperekplexia 3 [RCV001915762]	uncertain significance	11	20601322	20601322	Human	1	name
151842294	CV1438337	single nucleotide variant	NM_004211.5(SLC6A5):c.1059C>T (p.Asn353=)	Hyperekplexia 3 [RCV001921676]	likely benign	11	20614752	20614752	Human	1	name
151848932	CV1439938	single nucleotide variant	NM_004211.5(SLC6A5):c.269C>T (p.Ala90Val)	Hyperekplexia 3 [RCV002016313]\|not provided [RCV004694130]	uncertain significance	11	20601394	20601394	Human	1	name
151864720	CV1443047	single nucleotide variant	NM_004211.5(SLC6A5):c.175G>A (p.Ala59Thr)	Hyperekplexia 3 [RCV002034910]	uncertain significance	11	20601300	20601300	Human	1	name
151849802	CV1451982	single nucleotide variant	NM_004211.5(SLC6A5):c.179A>C (p.Gln60Pro)	Hyperekplexia 3 [RCV002016418]	uncertain significance	11	20601304	20601304	Human	1	name
151736254	CV1463530	single nucleotide variant	NM_004211.5(SLC6A5):c.198C>A (p.Asp66Glu)	Hyperekplexia 3 [RCV001911437]	uncertain significance	11	20601323	20601323	Human	1	name
151884291	CV1476884	single nucleotide variant	NM_004211.5(SLC6A5):c.254C>T (p.Pro85Leu)	Hyperekplexia 3 [RCV001887119]	uncertain significance	11	20601379	20601379	Human	1	name
151764428	CV1499348	single nucleotide variant	NM_004211.5(SLC6A5):c.107C>T (p.Pro36Leu)	Hyperekplexia 3 [RCV001873835]	uncertain significance	11	20601232	20601232	Human	1	name
151844107	CV1500029	single nucleotide variant	NM_004211.5(SLC6A5):c.1704C>T (p.Phe568=)	Hyperekplexia 3 [RCV001921890]	likely benign	11	20636386	20636386	Human	1	name
152168174	CV1524765	single nucleotide variant	NM_004211.5(SLC6A5):c.2127C>A (p.Arg709=)	Hyperekplexia 3 [RCV002182352]	likely benign	11	20652345	20652345	Human	1	name
152025654	CV1527840	single nucleotide variant	NM_004211.5(SLC6A5):c.1872T>G (p.Gly624=)	Hyperekplexia 3 [RCV002084535]	likely benign	11	20638461	20638461	Human	1	name
152076581	CV1531180	single nucleotide variant	NM_004211.5(SLC6A5):c.1599C>G (p.Val533=)	Hyperekplexia 3 [RCV002210678]	likely benign	11	20630790	20630790	Human	1	name
152043891	CV1534346	single nucleotide variant	NM_004211.5(SLC6A5):c.1293C>T (p.Val431=)	Hyperekplexia 3 [RCV002088318]	likely benign	11	20626740	20626740	Human	1	name
152044055	CV1534377	single nucleotide variant	NM_004211.5(SLC6A5):c.2322C>T (p.Ile774=)	Hyperekplexia 3 [RCV002088336]\|SLC6A5-related disorder [RCV003911337]	likely benign	11	20654796	20654796	Human	1	name , trait , alternate_id
152069661	CV1535454	single nucleotide variant	NM_004211.5(SLC6A5):c.1026G>A (p.Lys342=)	Hyperekplexia 3 [RCV002091411]	likely benign	11	20614719	20614719	Human	1	name
152059630	CV1536137	single nucleotide variant	NM_004211.5(SLC6A5):c.1176C>A (p.Ile392=)	Hyperekplexia 3 [RCV002146621]	likely benign	11	20617800	20617800	Human	1	name
152110627	CV1537019	single nucleotide variant	NM_004211.5(SLC6A5):c.1683G>A (p.Pro561=)	Hyperekplexia 3 [RCV002215434]	likely benign	11	20636365	20636365	Human	1	name
152089067	CV1541497	single nucleotide variant	NM_004211.5(SLC6A5):c.1338T>G (p.Ala446=)	Hyperekplexia 3 [RCV002171586]	likely benign	11	20626785	20626785	Human	1	name
152158399	CV1541991	single nucleotide variant	NM_004211.5(SLC6A5):c.2259G>T (p.Ser753=)	Hyperekplexia 3 [RCV002103317]	likely benign	11	20654733	20654733	Human	1	name
152032978	CV1542564	single nucleotide variant	NM_004211.5(SLC6A5):c.1533C>T (p.Ala511=)	Hyperekplexia 3 [RCV002106477]	likely benign	11	20630724	20630724	Human	1	name
152081909	CV1548349	single nucleotide variant	NM_004211.5(SLC6A5):c.1779G>A (p.Glu593=)	Hyperekplexia 3 [RCV002076482]	likely benign	11	20637213	20637213	Human	1	name
152122441	CV1554948	single nucleotide variant	NM_004211.5(SLC6A5):c.1230A>C (p.Ser410=)	Hyperekplexia 3 [RCV002198238]	likely benign	11	20617854	20617854	Human	1	name
152061182	CV1559303	single nucleotide variant	NM_004211.5(SLC6A5):c.1926C>T (p.Val642=)	Hyperekplexia 3 [RCV002168020]	likely benign	11	20638515	20638515	Human	1	name
152134644	CV1564768	single nucleotide variant	NM_004211.5(SLC6A5):c.1671G>T (p.Leu557=)	Hyperekplexia 3 [RCV002199783]	likely benign	11	20636353	20636353	Human	1	name
152067252	CV1566793	single nucleotide variant	NM_004211.5(SLC6A5):c.1200C>T (p.Leu400=)	Hyperekplexia 3 [RCV002091090]	likely benign	11	20617824	20617824	Human	1	name
152103424	CV1569475	single nucleotide variant	NM_004211.5(SLC6A5):c.1899C>T (p.Asp633=)	Hyperekplexia 3 [RCV002115644]	likely benign	11	20638488	20638488	Human	1	name
152116501	CV1569607	single nucleotide variant	NM_004211.5(SLC6A5):c.1386G>T (p.Thr462=)	Hyperekplexia 3 [RCV002117262]	likely benign	11	20626833	20626833	Human	1	name
152173055	CV1572707	single nucleotide variant	NM_004211.5(SLC6A5):c.1287G>A (p.Pro429=)	Hyperekplexia 3 [RCV002162667]	likely benign	11	20626734	20626734	Human	1	name
152157320	CV1573189	single nucleotide variant	NM_004211.5(SLC6A5):c.2151C>T (p.Leu717=)	Hyperekplexia 3 [RCV002180303]	likely benign	11	20652369	20652369	Human	1	name
152079601	CV1579889	single nucleotide variant	NM_004211.5(SLC6A5):c.169A>G (p.Thr57Ala)	Hyperekplexia 3 [RCV002076191]	likely benign	11	20601294	20601294	Human	1	name
152137319	CV1580399	single nucleotide variant	NM_004211.5(SLC6A5):c.1407T>C (p.Asp469=)	Hyperekplexia 3 [RCV002156303]	likely benign	11	20627991	20627991	Human	1	name
152052021	CV1580970	single nucleotide variant	NM_004211.5(SLC6A5):c.1032G>A (p.Ser344=)	Hyperekplexia 3 [RCV002089277]	likely benign	11	20614725	20614725	Human	1	name
152089795	CV1581664	single nucleotide variant	NM_004211.5(SLC6A5):c.2112C>T (p.Thr704=)	Hyperekplexia 3 [RCV002077552]	likely benign	11	20652330	20652330	Human	1	name
152144824	CV1582574	single nucleotide variant	NM_004211.5(SLC6A5):c.1266G>A (p.Val422=)	Hyperekplexia 3 [RCV002201075]	likely benign	11	20626713	20626713	Human	1	name
152133024	CV1588275	single nucleotide variant	NM_004211.5(SLC6A5):c.1329G>A (p.Leu443=)	Hyperekplexia 3 [RCV002199572]	likely benign	11	20626776	20626776	Human	1	name
152164873	CV1588779	single nucleotide variant	NM_004211.5(SLC6A5):c.2280A>G (p.Pro760=)	Hyperekplexia 3 [RCV002181621]	likely benign	11	20654754	20654754	Human	1	name
152159442	CV1589735	single nucleotide variant	NM_004211.5(SLC6A5):c.2313G>A (p.Lys771=)	Hyperekplexia 3 [RCV002203178]	likely benign	11	20654787	20654787	Human	1	name
152105933	CV1591557	single nucleotide variant	NM_004211.5(SLC6A5):c.1251T>C (p.Thr417=)	Hyperekplexia 3 [RCV002214807]	likely benign	11	20617875	20617875	Human	1	name
152059646	CV1596091	single nucleotide variant	NM_004211.5(SLC6A5):c.2356C>T (p.Leu786=)	Hyperekplexia 3 [RCV002090098]	likely benign	11	20654830	20654830	Human	1	name
152168923	CV1598323	single nucleotide variant	NM_004211.5(SLC6A5):c.1902C>T (p.Thr634=)	Hyperekplexia 3 [RCV002142614]	likely benign	11	20638491	20638491	Human	1	name
152085658	CV1599251	single nucleotide variant	NM_004211.5(SLC6A5):c.1713C>T (p.Leu571=)	Hyperekplexia 3 [RCV002093443]	likely benign	11	20636395	20636395	Human	1	name
152087557	CV1601264	single nucleotide variant	NM_004211.5(SLC6A5):c.1572C>T (p.Ile524=)	Hyperekplexia 3 [RCV002093706]	likely benign	11	20630763	20630763	Human	1	name
152086970	CV1602408	single nucleotide variant	NM_004211.5(SLC6A5):c.2115T>C (p.Tyr705=)	Hyperekplexia 3 [RCV002113522]	likely benign	11	20652333	20652333	Human	1	name
152156400	CV1615765	single nucleotide variant	NM_004211.5(SLC6A5):c.1962T>C (p.Tyr654=)	Hyperekplexia 3 [RCV002158911]	likely benign	11	20638551	20638551	Human	1	name
152092131	CV1631756	single nucleotide variant	NM_004211.5(SLC6A5):c.1047C>T (p.Thr349=)	Hyperekplexia 3 [RCV002132174]	benign	11	20614740	20614740	Human	1	name
152142668	CV1636481	single nucleotide variant	NM_004211.5(SLC6A5):c.1443A>G (p.Ala481=)	Hyperekplexia 3 [RCV002120591]	likely benign	11	20628027	20628027	Human	1	name
152082293	CV1641507	single nucleotide variant	NM_004211.5(SLC6A5):c.1776C>T (p.Asp592=)	Hyperekplexia 3 [RCV002211577]	likely benign	11	20637210	20637210	Human	1	name
152167876	CV1644893	single nucleotide variant	NM_004211.5(SLC6A5):c.2298C>T (p.Arg766=)	Hyperekplexia 3 [RCV002142269]	likely benign	11	20654772	20654772	Human	1	name
152142755	CV1651375	single nucleotide variant	NM_004211.5(SLC6A5):c.1239A>G (p.Lys413=)	Hyperekplexia 3 [RCV002138383]	likely benign	11	20617863	20617863	Human	1	name
152029258	CV1653120	single nucleotide variant	NM_004211.5(SLC6A5):c.1332T>A (p.Pro444=)	Hyperekplexia 3 [RCV002085741]	likely benign	11	20626779	20626779	Human	1	name
152028387	CV1655209	single nucleotide variant	NM_004211.5(SLC6A5):c.1386G>A (p.Thr462=)	Hyperekplexia 3 [RCV002105215]	likely benign	11	20626833	20626833	Human	1	name
152084572	CV1663044	single nucleotide variant	NM_004211.5(SLC6A5):c.1062G>A (p.Val354=)	Hyperekplexia 3 [RCV002170993]	likely benign	11	20614755	20614755	Human	1	name
155749183	CV1771099	single nucleotide variant	NM_004211.5(SLC6A5):c.233G>C (p.Gly78Ala)	Hyperekplexia 3 [RCV002304382]	uncertain significance	11	20601358	20601358	Human	1	name
155692942	CV1775275	single nucleotide variant	NM_004211.5(SLC6A5):c.218A>G (p.Glu73Gly)	Hyperekplexia 3 [RCV002299413]	uncertain significance	11	20601343	20601343	Human	1	name
155747088	CV1778278	single nucleotide variant	NM_004211.5(SLC6A5):c.256C>G (p.Arg86Gly)	Hyperekplexia 3 [RCV002303597]	uncertain significance	11	20601381	20601381	Human	1	name
156254048	CV1884138	single nucleotide variant	NM_004211.5(SLC6A5):c.236C>G (p.Ser79Cys)	Hyperekplexia 3 [RCV003086211]	uncertain significance	11	20601361	20601361	Human	1	name
156184343	CV1898370	single nucleotide variant	NM_004211.5(SLC6A5):c.1749C>T (p.Ile583=)	Hyperekplexia 3 [RCV002595165]	likely benign	11	20637183	20637183	Human	1	name
156304145	CV1916300	single nucleotide variant	NM_004211.5(SLC6A5):c.2259G>A (p.Ser753=)	Hyperekplexia 3 [RCV002599316]	likely benign	11	20654733	20654733	Human	1	name
156414007	CV1919464	single nucleotide variant	NM_004211.5(SLC6A5):c.180A>C (p.Gln60His)	Hyperekplexia 3 [RCV002588350]	uncertain significance	11	20601305	20601305	Human	1	name
156444778	CV1948506	single nucleotide variant	NM_004211.5(SLC6A5):c.1452C>G (p.Gly484=)	Hyperekplexia 3 [RCV003115706]	likely benign	11	20628036	20628036	Human	1	name
156445052	CV1949111	single nucleotide variant	NM_004211.5(SLC6A5):c.1792C>T (p.Leu598=)	Hyperekplexia 3 [RCV003115986]	likely benign	11	20637226	20637226	Human	1	name
156270883	CV1970938	single nucleotide variant	NM_004211.5(SLC6A5):c.1947C>T (p.Leu649=)	Hyperekplexia 3 [RCV002598086]	likely benign	11	20638536	20638536	Human	1	name
156238311	CV1973095	single nucleotide variant	NM_004211.5(SLC6A5):c.2241G>A (p.Arg747=)	Hyperekplexia 3 [RCV002597059]	likely benign	11	20654715	20654715	Human	1	name
156094117	CV1980806	single nucleotide variant	NM_004211.5(SLC6A5):c.2340T>C (p.Ser780=)	Hyperekplexia 3 [RCV002621966]	likely benign	11	20654814	20654814	Human	1	name
156385640	CV1998037	single nucleotide variant	NM_004211.5(SLC6A5):c.1677C>T (p.Leu559=)	Hyperekplexia 3 [RCV002653971]	likely benign	11	20636359	20636359	Human	1	name
156378503	CV2032643	single nucleotide variant	NM_004211.5(SLC6A5):c.179A>G (p.Gln60Arg)	Hyperekplexia 3 [RCV002722124]	uncertain significance	11	20601304	20601304	Human	1	name
156089306	CV2034305	single nucleotide variant	NM_004211.5(SLC6A5):c.1473C>T (p.Tyr491=)	Hyperekplexia 3 [RCV002760886]	likely benign	11	20628057	20628057	Human	1	name
156014404	CV2036083	single nucleotide variant	NM_004211.5(SLC6A5):c.194C>T (p.Ala65Val)	Hyperekplexia 3 [RCV002756863]	uncertain significance	11	20601319	20601319	Human	1	name
156098793	CV2042079	single nucleotide variant	NM_004211.5(SLC6A5):c.103A>G (p.Ser35Gly)	Hyperekplexia 3 [RCV002761236]	uncertain significance	11	20601228	20601228	Human	1	name
155998974	CV2057308	single nucleotide variant	NM_004211.5(SLC6A5):c.254C>A (p.Pro85Gln)	Hyperekplexia 3 [RCV002819556]	uncertain significance	11	20601379	20601379	Human	1	name
155917629	CV2063242	single nucleotide variant	NM_004211.5(SLC6A5):c.1185A>G (p.Pro395=)	Hyperekplexia 3 [RCV002838146]	likely benign	11	20617809	20617809	Human	1	name
156055862	CV2064840	deletion	NM_004211.5(SLC6A5):c.342del (p.Gly115fs)	Hyperekplexia 3 [RCV002846594]	pathogenic	11	20601465	20601465	Human	1	name
156043618	CV2071776	single nucleotide variant	NM_004211.5(SLC6A5):c.2379G>T (p.Leu793=)	Hyperekplexia 3 [RCV002846194]	likely benign	11	20654853	20654853	Human	1	name
156129862	CV2084819	single nucleotide variant	NM_004211.5(SLC6A5):c.1449A>C (p.Gly483=)	Hyperekplexia 3 [RCV002871594]	likely benign	11	20628033	20628033	Human	1	name
155978321	CV2093772	single nucleotide variant	NM_004211.5(SLC6A5):c.1305C>A (p.Ile435=)	Hyperekplexia 3 [RCV002881808]	likely benign	11	20626752	20626752	Human	1	name
156328551	CV2094617	single nucleotide variant	NM_004211.5(SLC6A5):c.1857A>G (p.Pro619=)	Hyperekplexia 3 [RCV002899780]	likely benign	11	20637291	20637291	Human	1	name
156196671	CV2113716	deletion	NM_004211.5(SLC6A5):c.677del (p.Gly226fs)	Hyperekplexia 3 [RCV002957235]	pathogenic\|likely pathogenic	11	20604418	20604418	Human	1	name
156376893	CV2124222	single nucleotide variant	NM_004211.5(SLC6A5):c.1566C>T (p.Ser522=)	Hyperekplexia 3 [RCV002942800]	likely benign	11	20630757	20630757	Human	1	name
156164749	CV2132052	single nucleotide variant	NM_004211.5(SLC6A5):c.236C>T (p.Ser79Phe)	Hyperekplexia 3 [RCV002983140]	uncertain significance	11	20601361	20601361	Human	1	name
155904669	CV2134437	single nucleotide variant	NM_004211.5(SLC6A5):c.2217G>A (p.Leu739=)	Hyperekplexia 3 [RCV002967636]	likely benign	11	20652435	20652435	Human	1	name
156228082	CV2146082	single nucleotide variant	NM_004211.5(SLC6A5):c.1935C>T (p.Ala645=)	Hyperekplexia 3 [RCV003025538]	likely benign	11	20638524	20638524	Human	1	name
155973883	CV2148868	single nucleotide variant	NM_004211.5(SLC6A5):c.115G>A (p.Glu39Lys)	Hyperekplexia 3 [RCV003016065]	uncertain significance	11	20601240	20601240	Human	1	name
156318461	CV2165634	single nucleotide variant	NM_004211.5(SLC6A5):c.1824C>G (p.Gly608=)	Hyperekplexia 3 [RCV003029005]	likely benign	11	20637258	20637258	Human	1	name
156400926	CV2186146	single nucleotide variant	NM_004211.5(SLC6A5):c.2025C>T (p.Ile675=)	Hyperekplexia 3 [RCV003052299]	likely benign	11	20646889	20646889	Human	1	name
156131235	CV2206315	single nucleotide variant	NM_004211.5(SLC6A5):c.154C>A (p.Pro52Thr)	Inborn genetic diseases [RCV002696463]	uncertain significance	11	20601279	20601279	Human	1	name
155921756	CV2240574	single nucleotide variant	NM_004211.5(SLC6A5):c.218A>C (p.Glu73Ala)	Inborn genetic diseases [RCV002773098]	uncertain significance	11	20601343	20601343	Human	1	name
401721489	CV2673733	single nucleotide variant	NM_004211.5(SLC6A5):c.134C>T (p.Ala45Val)	Inborn genetic diseases [RCV003244437]	uncertain significance	11	20601259	20601259	Human	1	name
401904239	CV2816531	single nucleotide variant	NM_004211.5(SLC6A5):c.128C>A (p.Ala43Asp)	not provided [RCV003394787]	uncertain significance	11	20601253	20601253	Human		name
405045548	CV2887991	single nucleotide variant	NM_004211.5(SLC6A5):c.1971C>G (p.Gly657=)	Hyperekplexia 3 [RCV003530765]	likely benign	11	20646835	20646835	Human	1	name
405051463	CV2909274	single nucleotide variant	NM_004211.5(SLC6A5):c.1920C>T (p.Ala640=)	Hyperekplexia 3 [RCV003531220]	likely benign	11	20638509	20638509	Human	1	name
405053390	CV2931160	single nucleotide variant	NM_004211.5(SLC6A5):c.1620C>T (p.Asp540=)	Hyperekplexia 3 [RCV003531363]	likely benign	11	20630811	20630811	Human	1	name
402509777	CV2937951	single nucleotide variant	NM_004211.5(SLC6A5):c.1659C>T (p.Ala553=)	Hyperekplexia 3 [RCV003646019]	likely benign	11	20636341	20636341	Human	1	name
402511158	CV2963388	single nucleotide variant	NM_004211.5(SLC6A5):c.1137G>T (p.Val379=)	Hyperekplexia 3 [RCV003646178]	likely benign	11	20617761	20617761	Human	1	name
402512544	CV2984042	single nucleotide variant	NM_004211.5(SLC6A5):c.2151C>G (p.Leu717=)	Hyperekplexia 3 [RCV003646299]	likely benign	11	20652369	20652369	Human	1	name
402514853	CV2996958	single nucleotide variant	NM_004211.5(SLC6A5):c.1035T>G (p.Thr345=)	Hyperekplexia 3 [RCV003646505]	likely benign	11	20614728	20614728	Human	1	name
402517245	CV3022157	single nucleotide variant	NM_004211.5(SLC6A5):c.1185A>T (p.Pro395=)	Hyperekplexia 3 [RCV003646683]	likely benign	11	20617809	20617809	Human	1	name
402519103	CV3039645	single nucleotide variant	NM_004211.5(SLC6A5):c.1023C>T (p.Ile341=)	Hyperekplexia 3 [RCV003646827]	likely benign	11	20614716	20614716	Human	1	name
402521819	CV3066166	single nucleotide variant	NM_004211.5(SLC6A5):c.1731C>T (p.Asp577=)	Hyperekplexia 3 [RCV003647080]	likely benign	11	20636413	20636413	Human	1	name
402523036	CV3071502	single nucleotide variant	NM_004211.5(SLC6A5):c.1335A>T (p.Gly445=)	Hyperekplexia 3 [RCV003647181]	likely benign	11	20626782	20626782	Human	1	name
404982062	CV3121449	single nucleotide variant	NM_004211.5(SLC6A5):c.1563C>T (p.Phe521=)	Hyperekplexia 3 [RCV003826248]	likely benign	11	20630754	20630754	Human	1	name
11604794	CV313576	single nucleotide variant	NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly)	Hyperekplexia 3 [RCV001246406]\|Hyperekplexia [RCV000312706]\|Inborn genetic diseases [RCV003258751]	likely benign\|uncertain significance	11	20601259	20601259	Human	4	name
11603453	CV313577	single nucleotide variant	NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu)	Hyperekplexia 3 [RCV000602465]\|Hyperekplexia [RCV000300040]\|not provided [RCV004705216]\|not specified [RCV000455628]	benign\|likely benign	11	20601391	20601391	Human	3	name
11609660	CV313597	single nucleotide variant	NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=)	Hyperekplexia 3 [RCV000608570]\|Hyperekplexia [RCV000371455]\|not provided [RCV001709581]	benign	11	20652321	20652321	Human	3	name
405110072	CV3136924	single nucleotide variant	NM_004211.5(SLC6A5):c.1905T>C (p.Tyr635=)	Hyperekplexia 3 [RCV003836078]	likely benign	11	20638494	20638494	Human	1	name
402472970	CV3171816	single nucleotide variant	NM_004211.5(SLC6A5):c.1311C>T (p.Leu437=)	Hyperekplexia 3 [RCV003874600]\|SLC6A5-related disorder [RCV003981179]	likely benign	11	20626758	20626758	Human	1	name , trait , alternate_id
402509634	CV3182062	single nucleotide variant	NM_004211.5(SLC6A5):c.1245C>T (p.Ile415=)	Hyperekplexia 3 [RCV003878715]	likely benign	11	20617869	20617869	Human	1	name
404982835	CV3184251	single nucleotide variant	NM_004211.5(SLC6A5):c.2367G>A (p.Lys789=)	Hyperekplexia 3 [RCV003880743]	likely benign	11	20654841	20654841	Human	1	name
405259628	CV3189687	single nucleotide variant	NM_004211.5(SLC6A5):c.2310C>T (p.Tyr770=)	Hyperekplexia 3 [RCV005064740]\|SLC6A5-related disorder [RCV003894280]	likely benign	11	20654784	20654784	Human	1	name , trait , alternate_id
11606627	CV319789	single nucleotide variant	NM_004211.5(SLC6A5):c.1548C>T (p.Ala516=)	Hyperekplexia 3 [RCV000887800]\|Hyperekplexia [RCV000333953]\|Inborn genetic diseases [RCV004021508]	benign\|likely benign	11	20630739	20630739	Human	4	name
11614752	CV325978	single nucleotide variant	NM_004211.5(SLC6A5):c.1230A>G (p.Ser410=)	Hyperekplexia 3 [RCV001512213]\|Hyperekplexia [RCV000279669]\|not provided [RCV001709580]	benign	11	20617854	20617854	Human	3	name
11617945	CV325983	single nucleotide variant	NM_004211.5(SLC6A5):c.1413C>T (p.Ala471=)	Hyperekplexia 3 [RCV000893466]\|Hyperekplexia [RCV000309298]	benign\|likely benign	11	20627997	20627997	Human	3	name
11621457	CV326893	single nucleotide variant	NM_004211.5(SLC6A5):c.137C>G (p.Pro46Arg)	Hyperekplexia 3 [RCV001080236]\|Hyperekplexia [RCV000349052]\|not provided [RCV000438727]	benign\|likely benign	11	20601262	20601262	Human	3	name
11624986	CV326903	single nucleotide variant	NM_004211.5(SLC6A5):c.1281G>A (p.Thr427=)	Hyperekplexia 3 [RCV002056192]\|Hyperekplexia [RCV000393572]\|not provided [RCV003389780]	likely benign	11	20626728	20626728	Human	3	name
11614133	CV326920	single nucleotide variant	NM_004211.5(SLC6A5):c.1653G>A (p.Pro551=)	Hyperekplexia 3 [RCV001859804]\|Hyperekplexia [RCV000274703]	likely benign\|uncertain significance	11	20636335	20636335	Human	3	name
11619805	CV326923	single nucleotide variant	NM_004211.5(SLC6A5):c.1863C>T (p.Ile621=)	Hyperekplexia 3 [RCV002056193]\|Hyperekplexia [RCV000329763]\|SLC6A5-related disorder [RCV003930284]	likely benign	11	20637297	20637297	Human	3	name , trait , alternate_id
11614836	CV326932	single nucleotide variant	NM_004211.5(SLC6A5):c.2070C>T (p.Thr690=)	Hyperekplexia 3 [RCV000954456]\|Hyperekplexia [RCV000280512]\|not provided [RCV001726100]\|not specified [RCV001701943]	benign\|likely benign	11	20646934	20646934	Human	3	name
405730897	CV3322168	single nucleotide variant	NM_004211.5(SLC6A5):c.110A>G (p.Glu37Gly)	Inborn genetic diseases [RCV004464320]	uncertain significance	11	20601235	20601235	Human	1	name
597627442	CV3606655	single nucleotide variant	NM_004211.5(SLC6A5):c.277G>A (p.Ala93Thr)	Inborn genetic diseases [RCV004966484]	uncertain significance	11	20601402	20601402	Human	1	name
597902244	CV3741472	single nucleotide variant	NM_004211.5(SLC6A5):c.1047C>G (p.Thr349=)	Hyperekplexia 3 [RCV005072443]	likely benign	11	20614740	20614740	Human	1	name
597952229	CV3765592	single nucleotide variant	NM_004211.5(SLC6A5):c.1284C>T (p.Phe428=)	Hyperekplexia 3 [RCV005121236]	likely benign	11	20626731	20626731	Human	1	name
597947008	CV3771592	single nucleotide variant	NM_004211.5(SLC6A5):c.1929C>T (p.Ile643=)	Hyperekplexia 3 [RCV005120117]	likely benign	11	20638518	20638518	Human	1	name
597923118	CV3775819	single nucleotide variant	NM_004211.5(SLC6A5):c.1881C>T (p.Tyr627=)	Hyperekplexia 3 [RCV005115534]	likely benign	11	20638470	20638470	Human	1	name
597880702	CV3783672	single nucleotide variant	NM_004211.5(SLC6A5):c.1548C>A (p.Ala516=)	Hyperekplexia 3 [RCV005124168]	likely benign	11	20630739	20630739	Human	1	name
597970477	CV3832495	single nucleotide variant	NM_004211.5(SLC6A5):c.1980A>G (p.Arg660=)	Hyperekplexia 3 [RCV005166574]	likely benign	11	20646844	20646844	Human	1	name
597940014	CV3836554	single nucleotide variant	NM_004211.5(SLC6A5):c.1506T>C (p.Thr502=)	Hyperekplexia 3 [RCV005187575]	likely benign	11	20630697	20630697	Human	1	name
597906998	CV3842931	single nucleotide variant	NM_004211.5(SLC6A5):c.1299C>T (p.Leu433=)	Hyperekplexia 3 [RCV005182239]	likely benign	11	20626746	20626746	Human	1	name
597933712	CV3844642	single nucleotide variant	NM_004211.5(SLC6A5):c.2175C>T (p.Ser725=)	Hyperekplexia 3 [RCV005186148]	likely benign	11	20652393	20652393	Human	1	name
597912825	CV3850703	single nucleotide variant	NM_004211.5(SLC6A5):c.1560C>T (p.Ile520=)	Hyperekplexia 3 [RCV005203851]	likely benign	11	20630751	20630751	Human	1	name
597936470	CV3852198	single nucleotide variant	NM_004211.5(SLC6A5):c.1170C>A (p.Gly390=)	Hyperekplexia 3 [RCV005186795]	likely benign	11	20617794	20617794	Human	1	name
597919259	CV3861671	single nucleotide variant	NM_004211.5(SLC6A5):c.1125C>T (p.Phe375=)	Hyperekplexia 3 [RCV005204827]	likely benign	11	20614818	20614818	Human	1	name
598259871	CV3921962	single nucleotide variant	NM_004211.5(SLC6A5):c.271T>C (p.Ser91Pro)	Inborn genetic diseases [RCV005279670]	uncertain significance	11	20601396	20601396	Human	1	name
8570060	CV46932	deletion	NM_004211.5(SLC6A5):c.323del (p.Pro108fs)	Hyperekplexia 3 [RCV000031925]	pathogenic	11	20601444	20601444	Human	1	name
15148884	CV729797	single nucleotide variant	NM_004211.5(SLC6A5):c.1554C>T (p.Phe518=)	Hyperekplexia 3 [RCV001433193]\|not provided [RCV004705864]	likely benign	11	20630745	20630745	Human	1	name
15171187	CV743550	single nucleotide variant	NM_004211.5(SLC6A5):c.2295C>T (p.His765=)	Hyperekplexia 3 [RCV001519858]\|SLC6A5-related disorder [RCV003968310]	benign\|likely benign	11	20654769	20654769	Human	1	name , trait , alternate_id
15203394	CV758707	single nucleotide variant	NM_004211.5(SLC6A5):c.1443A>T (p.Ala481=)	Hyperekplexia 3 [RCV002065855]	likely benign	11	20628027	20628027	Human	1	name
15103935	CV774303	single nucleotide variant	NM_004211.5(SLC6A5):c.1716C>T (p.Leu572=)	not provided [RCV000937289]	likely benign	11	20636398	20636398	Human		name
15198705	CV774304	single nucleotide variant	NM_004211.5(SLC6A5):c.1959T>C (p.Ser653=)	Hyperekplexia 3 [RCV001415344]	likely benign	11	20638548	20638548	Human	1	name
15172468	CV774305	single nucleotide variant	NM_004211.5(SLC6A5):c.2166C>T (p.Leu722=)	Hyperekplexia 3 [RCV002066071]\|Inborn genetic diseases [RCV005278697]	likely benign	11	20652384	20652384	Human	2	name
15199407	CV774306	single nucleotide variant	NM_004211.5(SLC6A5):c.2268G>A (p.Pro756=)	Hyperekplexia 3 [RCV002066144]	likely benign	11	20654742	20654742	Human	1	name
8626965	CV82109	single nucleotide variant	NM_004211.3(SLC6A5):c.2202G>A (p.Val734=)	Malignant melanoma [RCV000062188]	not provided	11	20652420	20652420	Human		name
38473362	CV951946	single nucleotide variant	NM_004211.5(SLC6A5):c.242A>G (p.Lys81Arg)	Hyperekplexia 3 [RCV001231808]	uncertain significance	11	20601367	20601367	Human	1	name
126727427	CV1009607	single nucleotide variant	NM_004211.5(SLC6A5):c.340C>T (p.Pro114Ser)	Hyperekplexia 3 [RCV001312271]\|Inborn genetic diseases [RCV005278813]	likely benign\|uncertain significance	11	20601465	20601465	Human	2	name
150551572	CV1292797	single nucleotide variant	NM_004211.5(SLC6A5):c.694C>T (p.Pro232Ser)	not provided [RCV001754405]	uncertain significance	11	20607021	20607021	Human		name
150546770	CV1313895	deletion	NM_004211.5(SLC6A5):c.1096del (p.Thr366fs)	Hyperekplexia 3 [RCV001784987]	pathogenic	11	20614789	20614789	Human		name
151798706	CV1337258	single nucleotide variant	NM_004211.5(SLC6A5):c.440C>T (p.Pro147Leu)	Hyperekplexia 3 [RCV002047783]	uncertain significance	11	20601565	20601565	Human	1	name
151881713	CV1339812	single nucleotide variant	NM_004211.5(SLC6A5):c.520G>T (p.Val174Leu)	Hyperekplexia 3 [RCV001999684]	uncertain significance	11	20601645	20601645	Human	1	name
151726984	CV1339840	single nucleotide variant	NM_004211.5(SLC6A5):c.853A>G (p.Ile285Val)	Hyperekplexia 3 [RCV002004383]	uncertain significance	11	20607520	20607520	Human	1	name
151734612	CV1341071	single nucleotide variant	NM_004211.5(SLC6A5):c.661G>A (p.Ala221Thr)	Hyperekplexia 3 [RCV001946416]	uncertain significance	11	20604406	20604406	Human	1	name
151831991	CV1343729	single nucleotide variant	NM_004211.5(SLC6A5):c.391G>A (p.Asp131Asn)	Hyperekplexia 3 [RCV001920579]	uncertain significance	11	20601516	20601516	Human	1	name
151811553	CV1345345	single nucleotide variant	NM_004211.5(SLC6A5):c.578A>G (p.Asn193Ser)	Hyperekplexia 3 [RCV001878322]	uncertain significance	11	20604323	20604323	Human	1	name
151891671	CV1347155	single nucleotide variant	NM_004211.5(SLC6A5):c.579C>A (p.Asn193Lys)	Hyperekplexia 3 [RCV002039200]	uncertain significance	11	20604324	20604324	Human	1	name
151804211	CV1352812	single nucleotide variant	NM_004211.5(SLC6A5):c.399C>A (p.Asn133Lys)	Hyperekplexia 3 [RCV001899344]	uncertain significance	11	20601524	20601524	Human	1	name
151865341	CV1357702	single nucleotide variant	NM_004211.5(SLC6A5):c.656A>G (p.Tyr219Cys)	Hyperekplexia 3 [RCV001905814]	uncertain significance	11	20604401	20604401	Human	1	name
151760809	CV1358053	single nucleotide variant	NM_004211.5(SLC6A5):c.389G>C (p.Gly130Ala)	Hyperekplexia 3 [RCV001928490]	uncertain significance	11	20601514	20601514	Human	1	name
151750491	CV1359088	single nucleotide variant	NM_004211.5(SLC6A5):c.812G>T (p.Gly271Val)	Hyperekplexia 3 [RCV001969140]	uncertain significance	11	20607479	20607479	Human	1	name
151829694	CV1362422	single nucleotide variant	NM_004211.5(SLC6A5):c.713C>T (p.Ala238Val)	Hyperekplexia 3 [RCV001993592]	uncertain significance	11	20607040	20607040	Human	1	name
151820336	CV1365281	single nucleotide variant	NM_004211.5(SLC6A5):c.823G>A (p.Ala275Thr)	Hyperekplexia 3 [RCV001879154]\|Inborn genetic diseases [RCV002551658]\|not specified [RCV002246566]	uncertain significance	11	20607490	20607490	Human	2	name
151710034	CV1372251	single nucleotide variant	NM_004211.5(SLC6A5):c.710T>C (p.Leu237Pro)	Hyperekplexia 3 [RCV001964103]	likely pathogenic	11	20607037	20607037	Human	1	name
151841854	CV1379557	single nucleotide variant	NM_004211.5(SLC6A5):c.412A>C (p.Lys138Gln)	Hyperekplexia 3 [RCV001936217]	uncertain significance	11	20601537	20601537	Human	1	name
151821527	CV1387318	single nucleotide variant	NM_004211.5(SLC6A5):c.325C>G (p.Pro109Ala)	Hyperekplexia 3 [RCV001992822]	uncertain significance	11	20601450	20601450	Human	1	name
151821328	CV1388925	single nucleotide variant	NM_004211.5(SLC6A5):c.503C>A (p.Ser168Tyr)	Hyperekplexia 3 [RCV001975758]	uncertain significance	11	20601628	20601628	Human	1	name
151858131	CV1408264	deletion	NM_004211.5(SLC6A5):c.2335del (p.Thr779fs)	Hyperekplexia 3 [RCV001883578]	uncertain significance	11	20654808	20654808	Human	1	name
151752033	CV1412377	single nucleotide variant	NM_004211.5(SLC6A5):c.941C>A (p.Pro314His)	Hyperekplexia 3 [RCV001927614]	uncertain significance	11	20607608	20607608	Human	1	name
151840307	CV1415361	single nucleotide variant	NM_004211.5(SLC6A5):c.835A>G (p.Ile279Val)	Hyperekplexia 3 [RCV001921454]	uncertain significance	11	20607502	20607502	Human	1	name
151820859	CV1416244	single nucleotide variant	NM_004211.5(SLC6A5):c.422T>C (p.Leu141Pro)	Hyperekplexia 3 [RCV001919556]\|Inborn genetic diseases [RCV004970541]	uncertain significance	11	20601547	20601547	Human	2	name
151748791	CV1430234	single nucleotide variant	NM_004211.5(SLC6A5):c.956A>G (p.Glu319Gly)	Hyperekplexia 3 [RCV002006635]	uncertain significance	11	20607623	20607623	Human	1	name
151846275	CV1434648	single nucleotide variant	NM_004211.5(SLC6A5):c.718G>T (p.Ala240Ser)	Hyperekplexia 3 [RCV001922158]	uncertain significance	11	20607045	20607045	Human	1	name
151757574	CV1437365	single nucleotide variant	NM_004211.5(SLC6A5):c.719C>G (p.Ala240Gly)	Hyperekplexia 3 [RCV001894949]\|Inborn genetic diseases [RCV004968398]	uncertain significance	11	20607046	20607046	Human	2	name
151774941	CV1440794	single nucleotide variant	NM_004211.5(SLC6A5):c.655T>C (p.Tyr219His)	Hyperekplexia 3 [RCV001896706]	uncertain significance	11	20604400	20604400	Human	1	name
151865271	CV1443133	single nucleotide variant	NM_004211.5(SLC6A5):c.832A>T (p.Ile278Phe)	Hyperekplexia 3 [RCV002034976]	uncertain significance	11	20607499	20607499	Human	1	name
151854044	CV1455582	duplication	NM_004211.5(SLC6A5):c.2_9dup (p.Ter798=)	Hyperekplexia 3 [RCV002016956]	uncertain significance	11	20654867	20654868	Human	1	name
151736703	CV1461885	single nucleotide variant	NM_004211.5(SLC6A5):c.577A>T (p.Asn193Tyr)	Hyperekplexia 3 [RCV001967707]\|Inborn genetic diseases [RCV003170051]	uncertain significance	11	20604322	20604322	Human	2	name
151764435	CV1462401	single nucleotide variant	NM_004211.5(SLC6A5):c.929C>T (p.Ser310Phe)	Hyperekplexia 3 [RCV001970550]	uncertain significance	11	20607596	20607596	Human	1	name
151779286	CV1467505	single nucleotide variant	NM_004211.5(SLC6A5):c.322C>T (p.Pro108Ser)	Hyperekplexia 3 [RCV001971928]	uncertain significance	11	20601447	20601447	Human	1	name
151716174	CV1470551	single nucleotide variant	NM_004211.5(SLC6A5):c.730A>G (p.Ile244Val)	Hyperekplexia 3 [RCV001908999]\|Inborn genetic diseases [RCV003167080]	uncertain significance	11	20607057	20607057	Human	2	name
151728974	CV1483052	single nucleotide variant	NM_004211.5(SLC6A5):c.382C>G (p.Pro128Ala)	Hyperekplexia 3 [RCV001892044]	uncertain significance	11	20601507	20601507	Human	1	name
151871328	CV1488858	single nucleotide variant	NM_004211.5(SLC6A5):c.611T>A (p.Met204Lys)	Hyperekplexia 3 [RCV002035706]	uncertain significance	11	20604356	20604356	Human	1	name
151788587	CV1488913	single nucleotide variant	NM_004211.5(SLC6A5):c.397A>G (p.Asn133Asp)	Hyperekplexia 3 [RCV002010466]	uncertain significance	11	20601522	20601522	Human	1	name
151780626	CV1490662	single nucleotide variant	NM_004211.5(SLC6A5):c.437C>T (p.Thr146Ile)	Hyperekplexia 3 [RCV001972048]	uncertain significance	11	20601562	20601562	Human	1	name
151760672	CV1496224	single nucleotide variant	NM_004211.5(SLC6A5):c.469A>G (p.Ser157Gly)	Hyperekplexia 3 [RCV001895273]	uncertain significance	11	20601594	20601594	Human	1	name
151734458	CV1497826	single nucleotide variant	NM_004211.5(SLC6A5):c.550C>A (p.Gln184Lys)	Hyperekplexia 3 [RCV001984544]	uncertain significance	11	20604295	20604295	Human	1	name
151761926	CV1502981	single nucleotide variant	NM_004211.5(SLC6A5):c.469A>C (p.Ser157Arg)	Hyperekplexia 3 [RCV001914092]	uncertain significance	11	20601594	20601594	Human	1	name
151805140	CV1503570	single nucleotide variant	NM_004211.5(SLC6A5):c.820A>G (p.Ile274Val)	Hyperekplexia 3 [RCV002011919]\|Inborn genetic diseases [RCV004970633]	uncertain significance	11	20607487	20607487	Human	2	name
151847285	CV1514973	single nucleotide variant	NM_004211.5(SLC6A5):c.323C>G (p.Pro108Arg)	Hyperekplexia 3 [RCV001978453]	uncertain significance	11	20601448	20601448	Human	1	name
152074134	CV1652637	single nucleotide variant	NM_004211.5(SLC6A5):c.419C>A (p.Thr140Asn)	Hyperekplexia 3 [RCV002148475]\|Inborn genetic diseases [RCV003070642]	likely benign\|uncertain significance	11	20601544	20601544	Human	2	name
155744994	CV1771528	single nucleotide variant	NM_004211.5(SLC6A5):c.994G>A (p.Val332Ile)	Hyperekplexia 3 [RCV002303309]	uncertain significance	11	20614687	20614687	Human	1	name
155749433	CV1773807	single nucleotide variant	NM_004211.5(SLC6A5):c.968A>T (p.Lys323Ile)	Hyperekplexia 3 [RCV002304646]	uncertain significance	11	20607635	20607635	Human	1	name
155673092	CV1774078	single nucleotide variant	NM_004211.5(SLC6A5):c.465C>G (p.Ser155Arg)	Hyperekplexia 3 [RCV002297632]	uncertain significance	11	20601590	20601590	Human	1	name
156185687	CV1933799	single nucleotide variant	NM_004211.5(SLC6A5):c.317C>T (p.Ser106Leu)	Hyperekplexia 3 [RCV002625191]	uncertain significance	11	20601442	20601442	Human	1	name
156344750	CV1981823	single nucleotide variant	NM_004211.5(SLC6A5):c.728C>G (p.Pro243Arg)	Hyperekplexia 3 [RCV002631618]	uncertain significance	11	20607055	20607055	Human	1	name
156270419	CV2004093	single nucleotide variant	NM_004211.5(SLC6A5):c.400G>A (p.Val134Met)	Hyperekplexia 3 [RCV002646513]	uncertain significance	11	20601525	20601525	Human	1	name
156098821	CV2042080	single nucleotide variant	NM_004211.5(SLC6A5):c.468G>C (p.Gln156His)	Hyperekplexia 3 [RCV002761237]	uncertain significance	11	20601593	20601593	Human	1	name
156127792	CV2043134	single nucleotide variant	NM_004211.5(SLC6A5):c.745G>T (p.Val249Leu)	Hyperekplexia 3 [RCV002800492]	uncertain significance	11	20607072	20607072	Human	1	name
156023641	CV2043328	single nucleotide variant	NM_004211.5(SLC6A5):c.353T>G (p.Leu118Arg)	Hyperekplexia 3 [RCV002780779]	uncertain significance	11	20601478	20601478	Human	1	name
156294596	CV2047403	single nucleotide variant	NM_004211.5(SLC6A5):c.839C>G (p.Ser280Cys)	Hyperekplexia 3 [RCV002770914]	uncertain significance	11	20607506	20607506	Human	1	name
156025014	CV2055769	single nucleotide variant	NM_004211.5(SLC6A5):c.719C>T (p.Ala240Val)	Hyperekplexia 3 [RCV002820800]	uncertain significance	11	20607046	20607046	Human	1	name
156060335	CV2069202	single nucleotide variant	NM_004211.5(SLC6A5):c.769C>T (p.Gln257Ter)	Hyperekplexia 3 [RCV002846749]	pathogenic	11	20607096	20607096	Human	1	name
155925012	CV2073876	single nucleotide variant	NM_004211.5(SLC6A5):c.475G>T (p.Val159Leu)	Hyperekplexia 3 [RCV002838488]	uncertain significance	11	20601600	20601600	Human	1	name
8558908	CV20804	single nucleotide variant	NM_004211.5(SLC6A5):c.916C>G (p.Leu306Val)	Hyperekplexia 3 [RCV000006121]	pathogenic	11	20607583	20607583	Human	1	name
156107414	CV2096494	single nucleotide variant	NM_004211.5(SLC6A5):c.332G>A (p.Ser111Asn)	Hyperekplexia 3 [RCV002913637]	uncertain significance	11	20601457	20601457	Human	1	name
156061132	CV2098520	single nucleotide variant	NM_004211.5(SLC6A5):c.741G>T (p.Leu247Phe)	Hyperekplexia 3 [RCV002886511]	uncertain significance	11	20607068	20607068	Human	1	name
156305682	CV2105241	single nucleotide variant	NM_004211.5(SLC6A5):c.766A>G (p.Ser256Gly)	Hyperekplexia 3 [RCV002922807]\|Inborn genetic diseases [RCV004966181]	uncertain significance	11	20607093	20607093	Human	2	name
156008597	CV2127550	single nucleotide variant	NM_004211.5(SLC6A5):c.363G>T (p.Lys121Asn)	Hyperekplexia 3 [RCV002948140]	uncertain significance	11	20601488	20601488	Human	1	name
155946780	CV2130288	single nucleotide variant	NM_004211.5(SLC6A5):c.299C>A (p.Ala100Glu)	Hyperekplexia 3 [RCV002971627]	uncertain significance	11	20601424	20601424	Human	1	name
156272347	CV2136617	single nucleotide variant	NM_004211.5(SLC6A5):c.440C>A (p.Pro147His)	Hyperekplexia 3 [RCV003009312]	uncertain significance	11	20601565	20601565	Human	1	name
156273154	CV2136663	single nucleotide variant	NM_004211.5(SLC6A5):c.323C>A (p.Pro108His)	Hyperekplexia 3 [RCV003009338]	uncertain significance	11	20601448	20601448	Human	1	name
156077062	CV2141811	single nucleotide variant	NM_004211.5(SLC6A5):c.488C>T (p.Thr163Met)	Hyperekplexia 3 [RCV002979126]	uncertain significance	11	20601613	20601613	Human	1	name
156027379	CV2145801	single nucleotide variant	NM_004211.5(SLC6A5):c.946A>G (p.Asn316Asp)	Hyperekplexia 3 [RCV003018522]	uncertain significance	11	20607613	20607613	Human	1	name
156242679	CV2148759	single nucleotide variant	NM_004211.5(SLC6A5):c.854T>C (p.Ile285Thr)	Hyperekplexia 3 [RCV003008157]	uncertain significance	11	20607521	20607521	Human	1	name
155917038	CV2152321	single nucleotide variant	NM_004211.5(SLC6A5):c.608C>T (p.Ser203Phe)	Hyperekplexia 3 [RCV002991710]	uncertain significance	11	20604353	20604353	Human	1	name
156100134	CV2153011	single nucleotide variant	NM_004211.5(SLC6A5):c.536C>T (p.Thr179Ile)	Hyperekplexia 3 [RCV003021019]	uncertain significance	11	20601661	20601661	Human	1	name
155915538	CV2155895	single nucleotide variant	NM_004211.5(SLC6A5):c.418A>G (p.Thr140Ala)	Hyperekplexia 3 [RCV002991630]	uncertain significance	11	20601543	20601543	Human	1	name
156196255	CV2158941	single nucleotide variant	NM_004211.5(SLC6A5):c.851C>T (p.Ala284Val)	Hyperekplexia 3 [RCV003041813]	uncertain significance	11	20607518	20607518	Human	1	name
156164818	CV2189924	single nucleotide variant	NM_004211.5(SLC6A5):c.919C>T (p.Pro307Ser)	Hyperekplexia 3 [RCV003040841]	uncertain significance	11	20607586	20607586	Human	1	name
156189410	CV2226840	single nucleotide variant	NM_004211.5(SLC6A5):c.529G>T (p.Val177Phe)	Inborn genetic diseases [RCV002742754]	uncertain significance	11	20601654	20601654	Human	1	name
156300168	CV2248773	single nucleotide variant	NM_004211.5(SLC6A5):c.614T>A (p.Val205Glu)	Inborn genetic diseases [RCV002808034]	uncertain significance	11	20604359	20604359	Human	1	name
155991880	CV2255742	single nucleotide variant	NM_004211.5(SLC6A5):c.404G>C (p.Ser135Thr)	Inborn genetic diseases [RCV002778619]	uncertain significance	11	20601529	20601529	Human	1	name
156068051	CV2270880	single nucleotide variant	NM_004211.5(SLC6A5):c.569C>T (p.Ala190Val)	Inborn genetic diseases [RCV002823290]	uncertain significance	11	20604314	20604314	Human	1	name
156260539	CV2274193	single nucleotide variant	NM_004211.5(SLC6A5):c.897T>G (p.Phe299Leu)	Inborn genetic diseases [RCV002831680]	uncertain significance	11	20607564	20607564	Human	1	name
155904309	CV2385470	single nucleotide variant	NM_004211.5(SLC6A5):c.668A>G (p.Gln223Arg)	Hyperekplexia 3 [RCV003645938]\|Inborn genetic diseases [RCV002749203]	likely benign\|uncertain significance	11	20604413	20604413	Human	2	name
243060712	CV2408690	single nucleotide variant	NM_004211.5(SLC6A5):c.863A>G (p.Asn288Ser)	Hyperekplexia 3 [RCV003136820]	uncertain significance	11	20607530	20607530	Human	1	name
401873396	CV2749752	single nucleotide variant	NM_004211.5(SLC6A5):c.727C>A (p.Pro243Thr)	not provided [RCV003332881]	likely pathogenic	11	20607054	20607054	Human		name
401923263	CV2796753	single nucleotide variant	NM_004211.5(SLC6A5):c.866T>C (p.Val289Ala)	SLC6A5-related disorder [RCV003404372]	uncertain significance	11	20607533	20607533	Human		name , trait , alternate_id
401933517	CV2802218	single nucleotide variant	NM_004211.5(SLC6A5):c.988T>C (p.Ser330Pro)	SLC6A5-related disorder [RCV003393025]	uncertain significance	11	20614681	20614681	Human		name , trait , alternate_id
402521990	CV3078240	single nucleotide variant	NM_004211.5(SLC6A5):c.691A>G (p.Ile231Val)	Hyperekplexia 3 [RCV003647093]	likely benign	11	20607018	20607018	Human	1	name
11608840	CV313584	single nucleotide variant	NM_004211.5(SLC6A5):c.347A>G (p.Asn116Ser)	Hyperekplexia 3 [RCV000960568]\|Hyperekplexia [RCV000360174]\|not provided [RCV001653494]	benign	11	20601472	20601472	Human	3	name
11609213	CV313588	single nucleotide variant	NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser)	Hyperekplexia 3 [RCV000988496]\|Hyperekplexia [RCV000365666]\|not provided [RCV004718408]	benign	11	20601496	20601496	Human	3	name
11608404	CV319765	single nucleotide variant	NM_004211.5(SLC6A5):c.304G>A (p.Gly102Ser)	Hyperekplexia 3 [RCV001512212]\|Hyperekplexia [RCV000354866]\|not provided [RCV004718405]	benign	11	20601429	20601429	Human	3	name
11605473	CV319773	single nucleotide variant	NM_004211.5(SLC6A5):c.356A>G (p.His119Arg)	Hyperekplexia 3 [RCV002056191]\|Hyperekplexia [RCV000320363]	likely benign	11	20601481	20601481	Human	3	name
11662519	CV319775	single nucleotide variant	NM_004211.5(SLC6A5):c.802G>A (p.Ala268Thr)	Hyperekplexia [RCV000386966]	uncertain significance	11	20607129	20607129	Human	2	name
405707945	CV3225443	single nucleotide variant	NM_004211.5(SLC6A5):c.784G>C (p.Val262Leu)	Hyperekplexia 3 [RCV003990498]	uncertain significance	11	20607111	20607111	Human	1	name
11613704	CV325939	single nucleotide variant	NM_004211.5(SLC6A5):c.395C>G (p.Ala132Gly)	Hyperekplexia 3 [RCV000650381]\|Hyperekplexia [RCV000271019]\|SLC6A5-related disorder [RCV004754381]\|not provided [RCV004718409]	benign	11	20601520	20601520	Human	3	name , trait , alternate_id
11624048	CV325940	single nucleotide variant	NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly)	Hyperekplexia 3 [RCV000988497]\|Hyperekplexia [RCV000381210]\|not provided [RCV004718410]	benign	11	20601610	20601610	Human	3	name
11616605	CV325946	single nucleotide variant	NM_004211.5(SLC6A5):c.500C>A (p.Thr167Lys)	Hyperekplexia 3 [RCV000650382]\|Hyperekplexia [RCV000296115]\|SLC6A5-related disorder [RCV004754382]\|not provided [RCV004718411]	benign	11	20601625	20601625	Human	3	name , trait , alternate_id
11616163	CV325957	single nucleotide variant	NM_004211.5(SLC6A5):c.950C>T (p.Thr317Met)	Hyperekplexia 3 [RCV000891928]\|Hyperekplexia [RCV000292425]	likely benign	11	20607617	20607617	Human	3	name
11655467	CV326902	single nucleotide variant	NM_004211.5(SLC6A5):c.445G>T (p.Val149Leu)	Hyperekplexia [RCV000326120]	uncertain significance	11	20601570	20601570	Human	2	name
597627445	CV3606656	single nucleotide variant	NM_004211.5(SLC6A5):c.645G>C (p.Trp215Cys)	Inborn genetic diseases [RCV004966485]	uncertain significance	11	20604390	20604390	Human	1	name
597627448	CV3606657	single nucleotide variant	NM_004211.5(SLC6A5):c.950C>A (p.Thr317Lys)	Inborn genetic diseases [RCV004966486]	uncertain significance	11	20607617	20607617	Human	1	name
597961849	CV3795281	deletion	NM_004211.5(SLC6A5):c.1893del (p.Val632fs)	Hyperekplexia 3 [RCV005138973]	pathogenic	11	20638481	20638481	Human	1	name
597907138	CV3842954	single nucleotide variant	NM_004211.5(SLC6A5):c.640G>A (p.Val214Ile)	Hyperekplexia 3 [RCV005182262]	uncertain significance	11	20604385	20604385	Human	1	name
12905875	CV413307	single nucleotide variant	NM_004211.5(SLC6A5):c.850G>A (p.Ala284Thr)	Hyperekplexia 3 [RCV002525988]\|not provided [RCV000488116]	uncertain significance	11	20607517	20607517	Human	1	name
13622935	CV526015	single nucleotide variant	NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp)	Hyperekplexia 3 [RCV000650377]\|Inborn genetic diseases [RCV002531959]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	20607010	20607010	Human	2	name
13705312	CV536397	single nucleotide variant	NM_004211.5(SLC6A5):c.757C>T (p.Gln253Ter)	not provided [RCV000657769]	likely pathogenic	11	20607084	20607084	Human		name
13809544	CV570423	single nucleotide variant	NM_004211.5(SLC6A5):c.571C>T (p.Arg191Ter)	Hyperekplexia 3 [RCV000702191]	pathogenic	11	20604316	20604316	Human	1	name
15014798	CV613457	deletion	NM_004211.5(SLC6A5):c.1430del (p.Ser477fs)	Exaggerated startle response [RCV000852298]\|Hyperekplexia 3 [RCV003768301]\|not provided [RCV003992385]	pathogenic	11	20628014	20628014	Human	2	name
14691241	CV621965	single nucleotide variant	NM_004211.5(SLC6A5):c.677G>A (p.Gly226Glu)	not provided [RCV000782023]	likely pathogenic	11	20604422	20604422	Human		name
14724437	CV639857	single nucleotide variant	NM_004211.5(SLC6A5):c.808C>T (p.Gln270Ter)	Hyperekplexia 3 [RCV000814781]	pathogenic	11	20607135	20607135	Human	1	name
26888306	CV850655	single nucleotide variant	NM_004211.5(SLC6A5):c.307G>A (p.Ala103Thr)	Hyperekplexia 3 [RCV001045223]	uncertain significance	11	20601432	20601432	Human	1	name
28876383	CV859855	single nucleotide variant	NM_004211.5(SLC6A5):c.546C>G (p.Asp182Glu)	Hyperekplexia 3 [RCV002554810]\|not provided [RCV001090236]	uncertain significance	11	20604291	20604291	Human	1	name
28876388	CV859856	single nucleotide variant	NM_004211.5(SLC6A5):c.861C>A (p.Tyr287Ter)	not provided [RCV001090237]	pathogenic	11	20607528	20607528	Human		name
38475369	CV939733	single nucleotide variant	NM_004211.5(SLC6A5):c.299C>T (p.Ala100Val)	Hyperekplexia 3 [RCV001204245]	uncertain significance	11	20601424	20601424	Human	1	name
126747737	CV1009608	single nucleotide variant	NM_004211.5(SLC6A5):c.1171G>A (p.Glu391Lys)	Hyperekplexia 3 [RCV001326210]	uncertain significance	11	20617795	20617795	Human	1	name
126741929	CV1017436	single nucleotide variant	NM_004211.5(SLC6A5):c.1315C>T (p.Arg439Ter)	Hyperekplexia 3 [RCV001784989]\|Inborn genetic diseases [RCV004040802]	pathogenic	11	20626762	20626762	Human	2	name
126741933	CV1017437	single nucleotide variant	NM_004211.5(SLC6A5):c.1346G>A (p.Gly449Glu)	Hyperekplexia 3 [RCV001329824]	uncertain significance	11	20626793	20626793	Human	1	name
126771472	CV1030161	single nucleotide variant	NM_004211.5(SLC6A5):c.1133T>C (p.Phe378Ser)	Hyperekplexia 3 [RCV001345058]	uncertain significance	11	20617757	20617757	Human	1	name
150529942	CV1293273	single nucleotide variant	NM_004211.5(SLC6A5):c.2171G>C (p.Cys724Ser)	Hyperekplexia 3 [RCV002074001]\|not provided [RCV001756493]	benign\|uncertain significance	11	20652389	20652389	Human	1	name
150532752	CV1293650	single nucleotide variant	NM_004211.5(SLC6A5):c.1583C>G (p.Ala528Gly)	Hyperekplexia 3 [RCV002539884]\|not provided [RCV001757927]	uncertain significance	11	20630774	20630774	Human	1	name
150548807	CV1293913	single nucleotide variant	NM_004211.5(SLC6A5):c.2101G>A (p.Glu701Lys)	not provided [RCV001764752]	uncertain significance	11	20652319	20652319	Human		name
150548010	CV1304962	single nucleotide variant	NM_004211.5(SLC6A5):c.1507C>G (p.Leu503Val)	not provided [RCV001764084]	uncertain significance	11	20630698	20630698	Human		name
151862352	CV1338675	single nucleotide variant	NM_004211.5(SLC6A5):c.1555G>A (p.Val519Ile)	Hyperekplexia 3 [RCV001997293]	uncertain significance	11	20630746	20630746	Human	1	name
151890052	CV1343769	single nucleotide variant	NM_004211.5(SLC6A5):c.1603A>T (p.Ile535Phe)	Hyperekplexia 3 [RCV001942943]	uncertain significance	11	20630794	20630794	Human	1	name
151787572	CV1345742	single nucleotide variant	NM_004211.5(SLC6A5):c.1796G>T (p.Arg599Leu)	Hyperekplexia 3 [RCV001897854]	uncertain significance	11	20637230	20637230	Human	1	name
151857447	CV1347382	single nucleotide variant	NM_004211.5(SLC6A5):c.1280C>T (p.Thr427Met)	Hyperekplexia 3 [RCV002033948]\|Inborn genetic diseases [RCV004681414]	uncertain significance	11	20626727	20626727	Human	2	name
151794627	CV1348315	single nucleotide variant	NM_004211.5(SLC6A5):c.1394C>T (p.Thr465Met)	Hyperekplexia 3 [RCV001876826]	uncertain significance	11	20626841	20626841	Human	1	name
151810704	CV1350260	single nucleotide variant	NM_004211.5(SLC6A5):c.1523C>G (p.Thr508Ser)	Hyperekplexia 3 [RCV002048828]	uncertain significance	11	20630714	20630714	Human	1	name
151849749	CV1355167	single nucleotide variant	NM_004211.5(SLC6A5):c.2098T>C (p.Trp700Arg)	Hyperekplexia 3 [RCV001957816]	uncertain significance	11	20652316	20652316	Human	1	name
151874685	CV1356624	single nucleotide variant	NM_004211.5(SLC6A5):c.1523C>T (p.Thr508Ile)	Hyperekplexia 3 [RCV001925664]	uncertain significance	11	20630714	20630714	Human	1	name
151891349	CV1356642	single nucleotide variant	NM_004211.5(SLC6A5):c.1735A>G (p.Met579Val)	Hyperekplexia 3 [RCV001943340]	uncertain significance	11	20636417	20636417	Human	1	name
151852843	CV1357365	single nucleotide variant	NM_004211.5(SLC6A5):c.1741G>A (p.Ala581Thr)	Hyperekplexia 3 [RCV001904324]	uncertain significance	11	20637175	20637175	Human	1	name
151806375	CV1359659	single nucleotide variant	NM_004211.5(SLC6A5):c.1366C>T (p.Pro456Ser)	Hyperekplexia 3 [RCV002028560]	uncertain significance	11	20626813	20626813	Human	1	name
151879139	CV1359821	single nucleotide variant	NM_004211.5(SLC6A5):c.2281T>C (p.Phe761Leu)	Hyperekplexia 3 [RCV002036628]	uncertain significance	11	20654755	20654755	Human	1	name
151877844	CV1360548	single nucleotide variant	NM_004211.5(SLC6A5):c.1537A>T (p.Ser513Cys)	Hyperekplexia 3 [RCV001907290]	uncertain significance	11	20630728	20630728	Human	1	name
151871312	CV1372118	single nucleotide variant	NM_004211.5(SLC6A5):c.2164C>T (p.Leu722Phe)	Hyperekplexia 3 [RCV001960461]	uncertain significance	11	20652382	20652382	Human	1	name
151824503	CV1373281	single nucleotide variant	NM_004211.5(SLC6A5):c.1675C>T (p.Leu559Phe)	Hyperekplexia 3 [RCV001934464]	uncertain significance	11	20636357	20636357	Human	1	name
151819557	CV1378241	single nucleotide variant	NM_004211.5(SLC6A5):c.1690G>T (p.Ala564Ser)	Hyperekplexia 3 [RCV002029753]\|Inborn genetic diseases [RCV005278901]	uncertain significance	11	20636372	20636372	Human	2	name
151752545	CV1379785	single nucleotide variant	NM_004211.5(SLC6A5):c.2258C>T (p.Ser753Leu)	Hyperekplexia 3 [RCV001948290]\|Inborn genetic diseases [RCV002561390]	likely benign\|uncertain significance	11	20654732	20654732	Human	2	name
151768506	CV1383384	single nucleotide variant	NM_004211.5(SLC6A5):c.1385C>T (p.Thr462Met)	Hyperekplexia 3 [RCV001874214]	uncertain significance	11	20626832	20626832	Human	1	name
151817226	CV1385586	single nucleotide variant	NM_004211.5(SLC6A5):c.1366C>A (p.Pro456Thr)	Hyperekplexia 3 [RCV002013022]\|Inborn genetic diseases [RCV002642094]	uncertain significance	11	20626813	20626813	Human	2	name
151741846	CV1386740	single nucleotide variant	NM_004211.5(SLC6A5):c.1087G>A (p.Ala363Thr)	Hyperekplexia 3 [RCV001893340]	uncertain significance	11	20614780	20614780	Human	1	name
151739164	CV1390165	single nucleotide variant	NM_004211.5(SLC6A5):c.1600A>G (p.Asn534Asp)	Hyperekplexia 3 [RCV001893100]	uncertain significance	11	20630791	20630791	Human	1	name
151830319	CV1391627	single nucleotide variant	NM_004211.5(SLC6A5):c.2069C>T (p.Thr690Ile)	Hyperekplexia 3 [RCV002050662]	uncertain significance	11	20646933	20646933	Human	1	name
151711336	CV1395022	single nucleotide variant	NM_004211.5(SLC6A5):c.2368G>C (p.Asp790His)	Hyperekplexia 3 [RCV001964359]\|Inborn genetic diseases [RCV002571293]	uncertain significance	11	20654842	20654842	Human	2	name
151870056	CV1395313	single nucleotide variant	NM_004211.5(SLC6A5):c.2170T>A (p.Cys724Ser)	Hyperekplexia 3 [RCV002035542]	uncertain significance	11	20652388	20652388	Human	1	name
151878936	CV1395477	single nucleotide variant	NM_004211.5(SLC6A5):c.2176G>A (p.Val726Ile)	Hyperekplexia 3 [RCV001999281]\|Inborn genetic diseases [RCV003375541]	uncertain significance	11	20652394	20652394	Human	2	name
151862070	CV1396956	single nucleotide variant	NM_004211.5(SLC6A5):c.1760T>G (p.Val587Gly)	Hyperekplexia 3 [RCV001938677]	uncertain significance	11	20637194	20637194	Human	1	name
151857798	CV1399641	single nucleotide variant	NM_004211.5(SLC6A5):c.1655A>C (p.Glu552Ala)	Hyperekplexia 3 [RCV001923619]	uncertain significance	11	20636337	20636337	Human	1	name
151744822	CV1400906	single nucleotide variant	NM_004211.5(SLC6A5):c.1627C>T (p.Pro543Ser)	Hyperekplexia 3 [RCV002022699]\|Inborn genetic diseases [RCV004970757]	likely benign\|uncertain significance	11	20636309	20636309	Human	2	name
151744873	CV1401654	single nucleotide variant	NM_004211.5(SLC6A5):c.2117G>T (p.Gly706Val)	Hyperekplexia 3 [RCV001947482]	uncertain significance	11	20652335	20652335	Human	1	name
151888718	CV1402267	single nucleotide variant	NM_004211.5(SLC6A5):c.1652C>T (p.Pro551Leu)	Hyperekplexia 3 [RCV001942644]	uncertain significance	11	20636334	20636334	Human	1	name
151744646	CV1406905	single nucleotide variant	NM_004211.5(SLC6A5):c.2062A>C (p.Ile688Leu)	Hyperekplexia 3 [RCV002006174]	uncertain significance	11	20646926	20646926	Human	1	name
151764556	CV1407685	single nucleotide variant	NM_004211.5(SLC6A5):c.2381G>A (p.Gly794Asp)	Hyperekplexia 3 [RCV002044648]	uncertain significance	11	20654855	20654855	Human	1	name
151874401	CV1408387	single nucleotide variant	NM_004211.5(SLC6A5):c.2344T>G (p.Leu782Val)	Hyperekplexia 3 [RCV001906887]	uncertain significance	11	20654818	20654818	Human	1	name
151780839	CV1408543	single nucleotide variant	NM_004211.5(SLC6A5):c.2006T>C (p.Ile669Thr)	Hyperekplexia 3 [RCV001915864]	uncertain significance	11	20646870	20646870	Human	1	name
151729420	CV1410123	single nucleotide variant	NM_004211.5(SLC6A5):c.1786A>G (p.Lys596Glu)	Hyperekplexia 3 [RCV001910708]	uncertain significance	11	20637220	20637220	Human	1	name
151770601	CV1410804	single nucleotide variant	NM_004211.5(SLC6A5):c.1534A>G (p.Thr512Ala)	Hyperekplexia 3 [RCV001971147]	uncertain significance	11	20630725	20630725	Human	1	name
151771326	CV1410884	single nucleotide variant	NM_004211.5(SLC6A5):c.1858A>G (p.Met620Val)	Hyperekplexia 3 [RCV001971211]	uncertain significance	11	20637292	20637292	Human	1	name
151869121	CV1413497	single nucleotide variant	NM_004211.5(SLC6A5):c.1747A>G (p.Ile583Val)	Hyperekplexia 3 [RCV002018708]	uncertain significance	11	20637181	20637181	Human	1	name
151765943	CV1418788	single nucleotide variant	NM_004211.5(SLC6A5):c.1475A>G (p.Asn492Ser)	Hyperekplexia 3 [RCV001929048]	uncertain significance	11	20628059	20628059	Human	1	name
151762875	CV1423987	single nucleotide variant	NM_004211.5(SLC6A5):c.1691C>T (p.Ala564Val)	Hyperekplexia 3 [RCV002008077]	uncertain significance	11	20636373	20636373	Human	1	name
151742017	CV1425478	single nucleotide variant	NM_004211.5(SLC6A5):c.1795C>T (p.Arg599Cys)	Hyperekplexia 3 [RCV001926554]	uncertain significance	11	20637229	20637229	Human	1	name
151774295	CV1427926	single nucleotide variant	NM_004211.5(SLC6A5):c.1621C>A (p.Gln541Lys)	Hyperekplexia 3 [RCV001915281]	uncertain significance	11	20630812	20630812	Human	1	name
151763950	CV1434064	single nucleotide variant	NM_004211.5(SLC6A5):c.2267C>T (p.Pro756Leu)	Hyperekplexia 3 [RCV002024693]\|Inborn genetic diseases [RCV002551171]	uncertain significance	11	20654741	20654741	Human	2	name
151887870	CV1434261	single nucleotide variant	NM_004211.5(SLC6A5):c.1937T>C (p.Ile646Thr)	Hyperekplexia 3 [RCV001887849]\|Inborn genetic diseases [RCV004039000]	uncertain significance	11	20638526	20638526	Human	2	name
151788785	CV1434263	single nucleotide variant	NM_004211.5(SLC6A5):c.1192C>G (p.Leu398Val)	Hyperekplexia 3 [RCV001876307]	uncertain significance	11	20617816	20617816	Human	1	name
151784284	CV1434674	single nucleotide variant	NM_004211.5(SLC6A5):c.2305C>T (p.Arg769Cys)	Hyperekplexia 3 [RCV001897529]	uncertain significance	11	20654779	20654779	Human	1	name
151725025	CV1437199	single nucleotide variant	NM_004211.5(SLC6A5):c.2369A>G (p.Asp790Gly)	Hyperekplexia 3 [RCV002004156]	uncertain significance	11	20654843	20654843	Human	1	name
151725916	CV1438028	single nucleotide variant	NM_004211.5(SLC6A5):c.1316G>A (p.Arg439Gln)	Hyperekplexia 3 [RCV001891714]\|Inborn genetic diseases [RCV004041629]	uncertain significance	11	20626763	20626763	Human	2	name
151860770	CV1438576	single nucleotide variant	NM_004211.5(SLC6A5):c.2258C>G (p.Ser753Trp)	Hyperekplexia 3 [RCV001923967]	uncertain significance	11	20654732	20654732	Human	1	name
151724405	CV1439944	single nucleotide variant	NM_004211.5(SLC6A5):c.1282T>C (p.Phe428Leu)	Hyperekplexia 3 [RCV002040498]	uncertain significance	11	20626729	20626729	Human	1	name
151775283	CV1440179	single nucleotide variant	NM_004211.5(SLC6A5):c.2105C>G (p.Pro702Arg)	Hyperekplexia 3 [RCV001874840]	uncertain significance	11	20652323	20652323	Human	1	name
151832304	CV1447160	single nucleotide variant	NM_004211.5(SLC6A5):c.2122T>C (p.Tyr708His)	Hyperekplexia 3 [RCV001880425]\|not provided [RCV003332353]	uncertain significance	11	20652340	20652340	Human	1	name
151819513	CV1450043	single nucleotide variant	NM_004211.5(SLC6A5):c.1261G>T (p.Val421Leu)	Hyperekplexia 3 [RCV001879078]	uncertain significance	11	20626708	20626708	Human	1	name
151869880	CV1454022	single nucleotide variant	NM_004211.5(SLC6A5):c.1884G>A (p.Met628Ile)	Hyperekplexia 3 [RCV001925060]\|Inborn genetic diseases [RCV004042536]	uncertain significance	11	20638473	20638473	Human	2	name
151777451	CV1454145	single nucleotide variant	NM_004211.5(SLC6A5):c.1189G>A (p.Ala397Thr)	Hyperekplexia 3 [RCV001896924]	uncertain significance	11	20617813	20617813	Human	1	name
151738545	CV1455070	single nucleotide variant	NM_004211.5(SLC6A5):c.1031C>T (p.Ser344Leu)	Hyperekplexia 3 [RCV002005581]	uncertain significance	11	20614724	20614724	Human	1	name
151772684	CV1458535	single nucleotide variant	NM_004211.5(SLC6A5):c.1093A>G (p.Lys365Glu)	Hyperekplexia 3 [RCV002025512]	uncertain significance	11	20614786	20614786	Human	1	name
151875108	CV1459831	single nucleotide variant	NM_004211.5(SLC6A5):c.2326C>G (p.Pro776Ala)	Hyperekplexia 3 [RCV002036159]	uncertain significance	11	20654800	20654800	Human	1	name
151847306	CV1461724	single nucleotide variant	NM_004211.5(SLC6A5):c.1339G>C (p.Gly447Arg)	Hyperekplexia 3 [RCV001936883]\|Inborn genetic diseases [RCV004671556]	uncertain significance	11	20626786	20626786	Human	2	name
151763558	CV1462038	single nucleotide variant	NM_004211.5(SLC6A5):c.1810G>A (p.Val604Met)	Hyperekplexia 3 [RCV001970463]	uncertain significance	11	20637244	20637244	Human	1	name
151829361	CV1465511	single nucleotide variant	NM_004211.5(SLC6A5):c.1954A>G (p.Ile652Val)	Hyperekplexia 3 [RCV002014161]	uncertain significance	11	20638543	20638543	Human	1	name
151883442	CV1475254	single nucleotide variant	NM_004211.5(SLC6A5):c.1385C>A (p.Thr462Lys)	Hyperekplexia 3 [RCV001941511]	uncertain significance	11	20626832	20626832	Human	1	name
151748163	CV1478782	single nucleotide variant	NM_004211.5(SLC6A5):c.2315A>C (p.Asn772Thr)	Hyperekplexia 3 [RCV002023078]	uncertain significance	11	20654789	20654789	Human	1	name
151748229	CV1478790	single nucleotide variant	NM_004211.5(SLC6A5):c.1101T>G (p.Phe367Leu)	Hyperekplexia 3 [RCV002023085]	uncertain significance	11	20614794	20614794	Human	1	name
151816831	CV1482663	single nucleotide variant	NM_004211.5(SLC6A5):c.1102G>C (p.Val368Leu)	Hyperekplexia 3 [RCV002049394]	uncertain significance	11	20614795	20614795	Human	1	name
151807600	CV1483363	single nucleotide variant	NM_004211.5(SLC6A5):c.1597G>A (p.Val533Ile)	Hyperekplexia 3 [RCV001918294]\|Inborn genetic diseases [RCV002555685]\|not provided [RCV004693930]	uncertain significance	11	20630788	20630788	Human	2	name
151847221	CV1483953	single nucleotide variant	NM_004211.5(SLC6A5):c.1505C>T (p.Thr502Ile)	Hyperekplexia 3 [RCV001903596]	uncertain significance	11	20630696	20630696	Human	1	name
151767968	CV1486132	single nucleotide variant	NM_004211.5(SLC6A5):c.1780T>A (p.Phe594Ile)	Hyperekplexia 3 [RCV002044961]	uncertain significance	11	20637214	20637214	Human	1	name
151737065	CV1489764	single nucleotide variant	NM_004211.5(SLC6A5):c.1831A>T (p.Ile611Phe)	Hyperekplexia 3 [RCV001892879]	uncertain significance	11	20637265	20637265	Human	1	name
151792746	CV1490211	single nucleotide variant	NM_004211.5(SLC6A5):c.1058A>G (p.Asn353Ser)	Hyperekplexia 3 [RCV001952202]	uncertain significance	11	20614751	20614751	Human	1	name
151739351	CV1492307	single nucleotide variant	NM_004211.5(SLC6A5):c.2170T>G (p.Cys724Gly)	Hyperekplexia 3 [RCV002042078]	uncertain significance	11	20652388	20652388	Human	1	name
151892667	CV1493859	single nucleotide variant	NM_004211.5(SLC6A5):c.1994T>C (p.Ile665Thr)	Hyperekplexia 3 [RCV001944355]	uncertain significance	11	20646858	20646858	Human	1	name
151766045	CV1495940	single nucleotide variant	NM_004211.5(SLC6A5):c.2124C>A (p.Tyr708Ter)	Hyperekplexia 3 [RCV001863615]	pathogenic	11	20652342	20652342	Human	1	name
151881762	CV1496231	single nucleotide variant	NM_004211.5(SLC6A5):c.1636G>T (p.Ala546Ser)	Hyperekplexia 3 [RCV001886597]	uncertain significance	11	20636318	20636318	Human	1	name
151812604	CV1498116	single nucleotide variant	NM_004211.5(SLC6A5):c.1867C>A (p.Gln623Lys)	Hyperekplexia 3 [RCV001953975]\|Inborn genetic diseases [RCV004970652]	uncertain significance	11	20637301	20637301	Human	2	name
151720403	CV1498329	single nucleotide variant	NM_004211.5(SLC6A5):c.1028A>G (p.Asn343Ser)	Hyperekplexia 3 [RCV001965886]	uncertain significance	11	20614721	20614721	Human	1	name
151727159	CV1499027	single nucleotide variant	NM_004211.5(SLC6A5):c.2128T>C (p.Tyr710His)	Hyperekplexia 3 [RCV002040829]\|Inborn genetic diseases [RCV004970804]	uncertain significance	11	20652346	20652346	Human	2	name
151763830	CV1499409	single nucleotide variant	NM_004211.5(SLC6A5):c.1592G>A (p.Arg531His)	Hyperekplexia 3 [RCV001863403]	uncertain significance	11	20630783	20630783	Human	1	name
151771830	CV1502730	single nucleotide variant	NM_004211.5(SLC6A5):c.1664C>A (p.Thr555Asn)	Hyperekplexia 3 [RCV001896414]	uncertain significance	11	20636346	20636346	Human	1	name
151858102	CV1503401	single nucleotide variant	NM_004211.5(SLC6A5):c.2152G>A (p.Gly718Arg)	Hyperekplexia 3 [RCV001979774]	uncertain significance	11	20652370	20652370	Human	1	name
151759518	CV1503808	single nucleotide variant	NM_004211.5(SLC6A5):c.1945C>T (p.Leu649Phe)	Hyperekplexia 3 [RCV002007694]	uncertain significance	11	20638534	20638534	Human	1	name
151795046	CV1506305	single nucleotide variant	NM_004211.5(SLC6A5):c.2323G>A (p.Asp775Asn)	Hyperekplexia 3 [RCV001917178]	uncertain significance	11	20654797	20654797	Human	1	name
151825544	CV1507137	single nucleotide variant	NM_004211.5(SLC6A5):c.2258C>A (p.Ser753Ter)	Hyperekplexia 3 [RCV001955179]	uncertain significance	11	20654732	20654732	Human	1	name
151744974	CV1507487	single nucleotide variant	NM_004211.5(SLC6A5):c.1846A>C (p.Met616Leu)	Hyperekplexia 3 [RCV001985631]	uncertain significance	11	20637280	20637280	Human	1	name
151757825	CV1510462	single nucleotide variant	NM_004211.5(SLC6A5):c.1426T>A (p.Phe476Ile)	Hyperekplexia 3 [RCV001948801]	uncertain significance	11	20628010	20628010	Human	1	name
151746279	CV1511284	single nucleotide variant	NM_004211.5(SLC6A5):c.1948G>A (p.Val650Met)	Hyperekplexia 3 [RCV001968675]\|Inborn genetic diseases [RCV004044476]	likely benign\|uncertain significance	11	20638537	20638537	Human	2	name
151731409	CV1512277	single nucleotide variant	NM_004211.5(SLC6A5):c.1456A>C (p.Ile486Leu)	Hyperekplexia 3 [RCV002041233]\|Inborn genetic diseases [RCV004970808]	uncertain significance	11	20628040	20628040	Human	2	name
151828969	CV1514043	single nucleotide variant	NM_004211.5(SLC6A5):c.1822G>T (p.Gly608Cys)	Hyperekplexia 3 [RCV001955487]	uncertain significance	11	20637256	20637256	Human	1	name
151886801	CV1514087	single nucleotide variant	NM_004211.5(SLC6A5):c.1621C>T (p.Gln541Ter)	Hyperekplexia 3 [RCV001962839]	pathogenic	11	20630812	20630812	Human	1	name
151843326	CV1514672	single nucleotide variant	NM_004211.5(SLC6A5):c.1641T>G (p.Phe547Leu)	Hyperekplexia 3 [RCV001957023]	likely pathogenic	11	20636323	20636323	Human	1	name
152133269	CV1547100	single nucleotide variant	NM_004211.5(SLC6A5):c.2125C>T (p.Arg709Cys)	Hyperekplexia 3 [RCV002155817]\|Inborn genetic diseases [RCV003081060]	likely benign\|uncertain significance	11	20652343	20652343	Human	2	name
152061006	CV1557519	single nucleotide variant	NM_004211.5(SLC6A5):c.1007A>C (p.His336Pro)	Hyperekplexia 3 [RCV002146774]\|Inborn genetic diseases [RCV003025447]	likely benign\|uncertain significance	11	20614700	20614700	Human	2	name
152173109	CV1572800	single nucleotide variant	NM_004211.5(SLC6A5):c.2362G>A (p.Val788Met)	Hyperekplexia 3 [RCV002162688]	likely benign	11	20654836	20654836	Human	1	name
152132519	CV1578681	single nucleotide variant	NM_004211.5(SLC6A5):c.2290C>G (p.Gln764Glu)	Hyperekplexia 3 [RCV002155730]	likely benign\|conflicting interpretations of pathogenicity	11	20654764	20654764	Human	1	name
152128142	CV1583718	single nucleotide variant	NM_004211.5(SLC6A5):c.1696A>G (p.Ile566Val)	Hyperekplexia 3 [RCV002198963]\|Inborn genetic diseases [RCV004047159]	likely benign\|uncertain significance	11	20636378	20636378	Human	2	name
152130150	CV1584432	single nucleotide variant	NM_004211.5(SLC6A5):c.1046C>T (p.Thr349Ile)	Hyperekplexia 3 [RCV002082754]\|Inborn genetic diseases [RCV003269123]	likely benign\|uncertain significance	11	20614739	20614739	Human	2	name
152048651	CV1615705	single nucleotide variant	NM_004211.5(SLC6A5):c.2323G>C (p.Asp775His)	Hyperekplexia 3 [RCV002166578]	likely benign	11	20654797	20654797	Human	1	name
152086174	CV1633688	single nucleotide variant	NM_004211.5(SLC6A5):c.1048G>A (p.Ala350Thr)	Hyperekplexia 3 [RCV002113418]\|Inborn genetic diseases [RCV005281131]	likely benign\|uncertain significance	11	20614741	20614741	Human	2	name
153304789	CV1690756	single nucleotide variant	NM_004211.5(SLC6A5):c.1759G>A (p.Val587Met)	Hyperekplexia 3 [RCV002269800]	uncertain significance	11	20637193	20637193	Human	1	name
153348080	CV1695129	single nucleotide variant	NM_004211.5(SLC6A5):c.2362G>T (p.Val788Leu)	not provided [RCV002279060]	uncertain significance	11	20654836	20654836	Human		name
155664048	CV1773214	single nucleotide variant	NM_004211.5(SLC6A5):c.1374G>C (p.Trp458Cys)	Hyperekplexia 3 [RCV002296926]	uncertain significance	11	20626821	20626821	Human	1	name
156408661	CV1870216	single nucleotide variant	NM_004211.5(SLC6A5):c.1663A>C (p.Thr555Pro)	Hyperekplexia 3 [RCV003071360]	uncertain significance	11	20636345	20636345	Human	1	name
156309180	CV1878031	single nucleotide variant	NM_004211.5(SLC6A5):c.1538G>T (p.Ser513Ile)	Hyperekplexia 3 [RCV003062349]	uncertain significance	11	20630729	20630729	Human	1	name
156309206	CV1878032	single nucleotide variant	NM_004211.5(SLC6A5):c.1970G>C (p.Gly657Ala)	Hyperekplexia 3 [RCV003062350]	uncertain significance	11	20646834	20646834	Human	1	name
155950398	CV1879164	single nucleotide variant	NM_004211.5(SLC6A5):c.1052A>G (p.Tyr351Cys)	Hyperekplexia 3 [RCV003074116]	uncertain significance	11	20614745	20614745	Human	1	name
156409559	CV1881317	single nucleotide variant	NM_004211.5(SLC6A5):c.1286C>T (p.Pro429Leu)	Hyperekplexia 3 [RCV003071720]	pathogenic	11	20626733	20626733	Human	1	name
156130978	CV1885509	single nucleotide variant	NM_004211.5(SLC6A5):c.1651C>T (p.Pro551Ser)	Hyperekplexia 3 [RCV003081836]	conflicting interpretations of pathogenicity\|uncertain significance	11	20636333	20636333	Human	1	name
156083123	CV1893753	single nucleotide variant	NM_004211.5(SLC6A5):c.1591C>T (p.Arg531Cys)	Hyperekplexia 3 [RCV003079937]	uncertain significance	11	20630782	20630782	Human	1	name
156295597	CV1894201	single nucleotide variant	NM_004211.5(SLC6A5):c.2126G>A (p.Arg709His)	Hyperekplexia 3 [RCV003087678]	uncertain significance	11	20652344	20652344	Human	1	name
156305755	CV1898602	single nucleotide variant	NM_004211.5(SLC6A5):c.2180T>C (p.Ile727Thr)	Hyperekplexia 3 [RCV003088164]\|Inborn genetic diseases [RCV004963430]	uncertain significance	11	20652398	20652398	Human	2	name
156377233	CV1913885	single nucleotide variant	NM_004211.5(SLC6A5):c.1844T>C (p.Ile615Thr)	Hyperekplexia 3 [RCV002603683]	uncertain significance	11	20637278	20637278	Human	1	name
156303670	CV1916257	single nucleotide variant	NM_004211.5(SLC6A5):c.1956C>G (p.Ile652Met)	Hyperekplexia 3 [RCV002599295]	uncertain significance	11	20638545	20638545	Human	1	name
156017400	CV1918468	single nucleotide variant	NM_004211.5(SLC6A5):c.1801C>T (p.His601Tyr)	Hyperekplexia 3 [RCV002636537]\|Inborn genetic diseases [RCV003161972]	uncertain significance	11	20637235	20637235	Human	2	name
156218578	CV1928073	single nucleotide variant	NM_004211.5(SLC6A5):c.1901C>T (p.Thr634Ile)	Hyperekplexia 3 [RCV002644307]	uncertain significance	11	20638490	20638490	Human	1	name
156187095	CV1933883	single nucleotide variant	NM_004211.5(SLC6A5):c.1294G>A (p.Val432Ile)	Hyperekplexia 3 [RCV002625235]	uncertain significance	11	20626741	20626741	Human	1	name
156437059	CV1936886	single nucleotide variant	NM_004211.5(SLC6A5):c.1945C>A (p.Leu649Ile)	Hyperekplexia 3 [RCV003106588]	uncertain significance	11	20638534	20638534	Human	1	name
156449348	CV1941328	single nucleotide variant	NM_004211.5(SLC6A5):c.1250C>T (p.Thr417Ile)	Hyperekplexia 3 [RCV003121469]	uncertain significance	11	20617874	20617874	Human	1	name
156407566	CV1957531	single nucleotide variant	NM_004211.5(SLC6A5):c.2000T>G (p.Met667Arg)	Hyperekplexia 3 [RCV002586268]	uncertain significance	11	20646864	20646864	Human	1	name
156290646	CV1961482	single nucleotide variant	NM_004211.5(SLC6A5):c.1796G>A (p.Arg599His)	Hyperekplexia 3 [RCV002577817]	uncertain significance	11	20637230	20637230	Human	1	name
156292302	CV2009795	single nucleotide variant	NM_004211.5(SLC6A5):c.1198C>G (p.Leu400Val)	Hyperekplexia 3 [RCV002715705]	uncertain significance	11	20617822	20617822	Human	1	name
156180036	CV2020441	single nucleotide variant	NM_004211.5(SLC6A5):c.2285T>C (p.Leu762Ser)	Hyperekplexia 3 [RCV002710752]	uncertain significance	11	20654759	20654759	Human	1	name
156377967	CV2024917	single nucleotide variant	NM_004211.5(SLC6A5):c.1237A>G (p.Lys413Glu)	Hyperekplexia 3 [RCV002722081]	uncertain significance	11	20617861	20617861	Human	1	name
155996076	CV2034956	single nucleotide variant	NM_004211.5(SLC6A5):c.1325C>A (p.Thr442Asn)	Hyperekplexia 3 [RCV002755967]	uncertain significance	11	20626772	20626772	Human	1	name
156126210	CV2036329	single nucleotide variant	NM_004211.5(SLC6A5):c.1042A>C (p.Met348Leu)	Hyperekplexia 3 [RCV002785987]	uncertain significance	11	20614735	20614735	Human	1	name
156228500	CV2048558	single nucleotide variant	NM_004211.5(SLC6A5):c.2196G>A (p.Met732Ile)	Hyperekplexia 3 [RCV002790901]	uncertain significance	11	20652414	20652414	Human	1	name
156168644	CV2056718	single nucleotide variant	NM_004211.5(SLC6A5):c.1442C>T (p.Ala481Val)	Hyperekplexia 3 [RCV002801885]	uncertain significance	11	20628026	20628026	Human	1	name
156319755	CV2071295	single nucleotide variant	NM_004211.5(SLC6A5):c.1799C>T (p.Thr600Ile)	Hyperekplexia 3 [RCV002834616]	uncertain significance	11	20637233	20637233	Human	1	name
156013070	CV2071960	single nucleotide variant	NM_004211.5(SLC6A5):c.2114A>T (p.Tyr705Phe)	Hyperekplexia 3 [RCV002843981]	uncertain significance	11	20652332	20652332	Human	1	name
8558904	CV20800	single nucleotide variant	NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter)	Hyperekplexia 3 [RCV000006117]	pathogenic	11	20617755	20617755	Human	1	name
8558906	CV20802	single nucleotide variant	NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)	Hyperekplexia 3 [RCV000006119]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	20628056	20628056	Human	1	name
8558907	CV20803	single nucleotide variant	NM_004211.5(SLC6A5):c.1888C>T (p.Gln630Ter)	Hyperekplexia 3 [RCV000006120]	pathogenic	11	20638477	20638477	Human	1	name
8558909	CV20805	single nucleotide variant	NM_004211.5(SLC6A5):c.1526A>G (p.Asn509Ser)	Hyperekplexia 3 [RCV000006122]	pathogenic	11	20630717	20630717	Human	1	name
8558910	CV20806	single nucleotide variant	NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met)	Hyperekplexia 3 [RCV000006123]	pathogenic\|uncertain significance	11	20626721	20626721	Human	1	name
156145231	CV2090852	single nucleotide variant	NM_004211.5(SLC6A5):c.1553T>G (p.Phe518Cys)	Hyperekplexia 3 [RCV002890459]	uncertain significance	11	20630744	20630744	Human	1	name
156098425	CV2103032	single nucleotide variant	NM_004211.5(SLC6A5):c.1756A>G (p.Ile586Val)	Hyperekplexia 3 [RCV002913309]	uncertain significance	11	20637190	20637190	Human	1	name
156216899	CV2111027	single nucleotide variant	NM_004211.5(SLC6A5):c.2283C>A (p.Phe761Leu)	Hyperekplexia 3 [RCV002932297]	uncertain significance	11	20654757	20654757	Human	1	name
156132060	CV2112973	single nucleotide variant	NM_004211.5(SLC6A5):c.1426T>G (p.Phe476Val)	Hyperekplexia 3 [RCV002914590]	uncertain significance	11	20628010	20628010	Human	1	name
156133364	CV2113143	single nucleotide variant	NM_004211.5(SLC6A5):c.2162T>C (p.Met721Thr)	Hyperekplexia 3 [RCV002928286]	uncertain significance	11	20652380	20652380	Human	1	name
156328537	CV2116257	single nucleotide variant	NM_004211.5(SLC6A5):c.1091A>T (p.Asn364Ile)	Hyperekplexia 3 [RCV002938230]	uncertain significance	11	20614784	20614784	Human	1	name
156088016	CV2132063	single nucleotide variant	NM_004211.5(SLC6A5):c.2234T>C (p.Ile745Thr)	Hyperekplexia 3 [RCV002979498]	uncertain significance	11	20652452	20652452	Human	1	name
156092395	CV2135611	single nucleotide variant	NM_004211.5(SLC6A5):c.1097C>T (p.Thr366Ile)	Hyperekplexia 3 [RCV003001881]	uncertain significance	11	20614790	20614790	Human	1	name
156232688	CV2137133	single nucleotide variant	NM_004211.5(SLC6A5):c.1374G>A (p.Trp458Ter)	Hyperekplexia 3 [RCV003007800]	pathogenic	11	20626821	20626821	Human	1	name
156054526	CV2137337	single nucleotide variant	NM_004211.5(SLC6A5):c.1775A>C (p.Asp592Ala)	Hyperekplexia 3 [RCV002999986]	uncertain significance	11	20637209	20637209	Human	1	name
156225048	CV2144437	single nucleotide variant	NM_004211.5(SLC6A5):c.1159G>A (p.Glu387Lys)	Hyperekplexia 3 [RCV003007528]	uncertain significance	11	20617783	20617783	Human	1	name
155975065	CV2149007	single nucleotide variant	NM_004211.5(SLC6A5):c.1079C>A (p.Thr360Asn)	Hyperekplexia 3 [RCV003016115]	uncertain significance	11	20614772	20614772	Human	1	name
156060672	CV2155062	single nucleotide variant	NM_004211.5(SLC6A5):c.1222T>C (p.Tyr408His)	Hyperekplexia 3 [RCV003000191]	uncertain significance	11	20617846	20617846	Human	1	name
155978776	CV2157103	single nucleotide variant	NM_004211.5(SLC6A5):c.2017C>G (p.Pro673Ala)	Hyperekplexia 3 [RCV003016273]	uncertain significance	11	20646881	20646881	Human	1	name
156271935	CV2168132	single nucleotide variant	NM_004211.5(SLC6A5):c.2182T>C (p.Trp728Arg)	Hyperekplexia 3 [RCV003027021]	uncertain significance	11	20652400	20652400	Human	1	name
156221141	CV2173250	single nucleotide variant	NM_004211.5(SLC6A5):c.1010C>A (p.Pro337His)	Hyperekplexia 3 [RCV003025198]	uncertain significance	11	20614703	20614703	Human	1	name
156341787	CV2175917	single nucleotide variant	NM_004211.5(SLC6A5):c.1360A>C (p.Ile454Leu)	Hyperekplexia 3 [RCV003030324]	uncertain significance	11	20626807	20626807	Human	1	name
156030680	CV2182099	single nucleotide variant	NM_004211.5(SLC6A5):c.2333G>A (p.Gly778Glu)	Hyperekplexia 3 [RCV003036170]	uncertain significance	11	20654807	20654807	Human	1	name
156377225	CV2189127	single nucleotide variant	NM_004211.5(SLC6A5):c.1400G>C (p.Trp467Ser)	Hyperekplexia 3 [RCV003050206]	uncertain significance	11	20627984	20627984	Human	1	name
156343876	CV2364181	single nucleotide variant	NM_004211.5(SLC6A5):c.1217T>C (p.Ile406Thr)	Inborn genetic diseases [RCV002674777]	uncertain significance	11	20617841	20617841	Human	1	name
156182018	CV2384128	single nucleotide variant	NM_004211.5(SLC6A5):c.2143A>G (p.Met715Val)	Inborn genetic diseases [RCV002699436]	uncertain significance	11	20652361	20652361	Human	1	name
243060713	CV2408691	single nucleotide variant	NM_004211.5(SLC6A5):c.1967A>C (p.Tyr656Ser)	Hyperekplexia 3 [RCV003136821]	uncertain significance	11	20638556	20638556	Human	1	name
329394507	CV2461385	single nucleotide variant	NM_004211.5(SLC6A5):c.1493G>A (p.Cys498Tyr)	Inborn genetic diseases [RCV003193711]	uncertain significance	11	20628077	20628077	Human	1	name
401719009	CV2704915	single nucleotide variant	NM_004211.5(SLC6A5):c.2093A>G (p.Tyr698Cys)	Inborn genetic diseases [RCV003266739]	uncertain significance	11	20652311	20652311	Human	1	name
401856401	CV2752471	single nucleotide variant	NM_004211.5(SLC6A5):c.2039G>A (p.Cys680Tyr)	Hyperekplexia 3 [RCV003340809]	uncertain significance	11	20646903	20646903	Human	1	name
401937746	CV2796928	single nucleotide variant	NM_004211.5(SLC6A5):c.1688G>A (p.Trp563Ter)	SLC6A5-related disorder [RCV003416840]	likely pathogenic	11	20636370	20636370	Human		name , trait , alternate_id
402523540	CV3077326	single nucleotide variant	NM_004211.5(SLC6A5):c.2293C>A (p.His765Asn)	Hyperekplexia 3 [RCV003647221]\|Inborn genetic diseases [RCV004374352]	likely benign\|uncertain significance	11	20654767	20654767	Human	2	name
402523783	CV3077947	single nucleotide variant	NM_004211.5(SLC6A5):c.1469C>T (p.Ser490Phe)	Hyperekplexia 3 [RCV003647242]	uncertain significance	11	20628053	20628053	Human	1	name
11608648	CV313595	single nucleotide variant	NM_004211.5(SLC6A5):c.1371G>C (p.Lys457Asn)	Hyperekplexia 3 [RCV001520556]\|Hyperekplexia [RCV000358141]\|not provided [RCV001690007]	benign	11	20626818	20626818	Human	3	name
11611329	CV313596	single nucleotide variant	NM_004211.5(SLC6A5):c.1387G>A (p.Asp463Asn)	Hyperekplexia 3 [RCV001520557]\|Hyperekplexia [RCV000393595]\|not provided [RCV001636867]	benign	11	20626834	20626834	Human	3	name
11607326	CV313604	single nucleotide variant	NM_004211.5(SLC6A5):c.2186T>C (p.Ile729Thr)	Hyperekplexia 3 [RCV001336651]\|Hyperekplexia [RCV000342278]	uncertain significance	11	20652404	20652404	Human	3	name
11611902	CV313606	single nucleotide variant	NM_004211.5(SLC6A5):c.2214T>A (p.His738Gln)	Hyperekplexia 3 [RCV002520715]\|Hyperekplexia [RCV000401148]	likely benign\|uncertain significance	11	20652432	20652432	Human	3	name
11604357	CV313615	single nucleotide variant	NM_004211.5(SLC6A5):c.2306G>A (p.Arg769His)	Hyperekplexia 3 [RCV000947335]\|Hyperekplexia [RCV000308486]\|not provided [RCV001726101]	likely benign	11	20654780	20654780	Human	3	name
11607517	CV313617	single nucleotide variant	NM_004211.5(SLC6A5):c.2366A>G (p.Lys789Arg)	Hyperekplexia 3 [RCV000898529]\|Hyperekplexia [RCV000344607]\|SLC6A5-related disorder [RCV003940149]\|not provided [RCV004706837]	benign\|likely benign	11	20654840	20654840	Human	3	name , trait , alternate_id
11607414	CV319776	single nucleotide variant	NM_004211.5(SLC6A5):c.1277C>G (p.Ala426Gly)	Hyperekplexia 3 [RCV001850613]\|Hyperekplexia [RCV000343092]\|Inborn genetic diseases [RCV002522194]	uncertain significance	11	20626724	20626724	Human	4	name
11652133	CV319778	single nucleotide variant	NM_004211.5(SLC6A5):c.1288T>A (p.Tyr430Asn)	Hyperekplexia [RCV000303323]	uncertain significance	11	20626735	20626735	Human	2	name
11609944	CV319791	single nucleotide variant	NM_004211.5(SLC6A5):c.2026T>G (p.Phe676Val)	Hyperekplexia 3 [RCV002056194]\|Hyperekplexia [RCV000374997]	likely benign	11	20646890	20646890	Human	3	name
11607837	CV319799	single nucleotide variant	NM_004211.5(SLC6A5):c.2297G>A (p.Arg766His)	Hyperekplexia 3 [RCV001850614]\|Hyperekplexia [RCV000347972]\|Inborn genetic diseases [RCV003165823]	uncertain significance	11	20654771	20654771	Human	4	name
405654829	CV3228349	single nucleotide variant	NM_004211.5(SLC6A5):c.2300G>A (p.Gly767Glu)	not specified [RCV003995084]	uncertain significance	11	20654774	20654774	Human		name
11625509	CV325977	single nucleotide variant	NM_004211.5(SLC6A5):c.1169G>T (p.Gly390Val)	Hyperekplexia 3 [RCV000803779]\|Hyperekplexia [RCV000399414]\|Inborn genetic diseases [RCV002520714]	likely benign\|uncertain significance	11	20617793	20617793	Human	4	name
11623224	CV325988	single nucleotide variant	NM_004211.5(SLC6A5):c.1585A>C (p.Asn529His)	Hyperekplexia [RCV000370006]\|Inborn genetic diseases [RCV004678671]	uncertain significance	11	20630776	20630776	Human	3	name
11615562	CV325993	single nucleotide variant	NM_004211.5(SLC6A5):c.2119T>C (p.Ser707Pro)	Hyperekplexia [RCV000287316]	uncertain significance	11	20652337	20652337	Human	2	name
11622734	CV326919	single nucleotide variant	NM_004211.5(SLC6A5):c.1496A>T (p.Tyr499Phe)	Hyperekplexia 3 [RCV000947334]\|Hyperekplexia [RCV000364083]\|not provided [RCV004718413]	benign	11	20628080	20628080	Human	3	name
11626139	CV326947	single nucleotide variant	NM_004211.5(SLC6A5):c.2299G>A (p.Gly767Arg)	Hyperekplexia 3 [RCV001518345]\|Hyperekplexia [RCV000407323]\|not provided [RCV004718414]	benign	11	20654773	20654773	Human	3	name
405730890	CV3322167	single nucleotide variant	NM_004211.5(SLC6A5):c.1042A>T (p.Met348Leu)	Inborn genetic diseases [RCV004464319]	uncertain significance	11	20614735	20614735	Human	1	name
405730914	CV3322170	single nucleotide variant	NM_004211.5(SLC6A5):c.2108T>C (p.Met703Thr)	Inborn genetic diseases [RCV004464322]	uncertain significance	11	20652326	20652326	Human	1	name
407515585	CV3481056	single nucleotide variant	NM_004211.5(SLC6A5):c.1002T>G (p.Ser334Arg)	Inborn genetic diseases [RCV004674983]	uncertain significance	11	20614695	20614695	Human	1	name
407515587	CV3481057	single nucleotide variant	NM_004211.5(SLC6A5):c.1776C>A (p.Asp592Glu)	Inborn genetic diseases [RCV004674984]	uncertain significance	11	20637210	20637210	Human	1	name
407515593	CV3481059	single nucleotide variant	NM_004211.5(SLC6A5):c.2325C>A (p.Asp775Glu)	Inborn genetic diseases [RCV004674986]	uncertain significance	11	20654799	20654799	Human	1	name
597956163	CV3838149	single nucleotide variant	NM_004211.5(SLC6A5):c.1927A>G (p.Ile643Val)	Hyperekplexia 3 [RCV005191524]	uncertain significance	11	20638516	20638516	Human	1	name
597892998	CV3856809	single nucleotide variant	NM_004211.5(SLC6A5):c.1966T>C (p.Tyr656His)	Hyperekplexia 3 [RCV005200878]	likely pathogenic	11	20638555	20638555	Human	1	name
598237599	CV3921963	single nucleotide variant	NM_004211.5(SLC6A5):c.1910C>G (p.Ala637Gly)	Inborn genetic diseases [RCV005275685]	uncertain significance	11	20638499	20638499	Human	1	name
8568895	CV40212	single nucleotide variant	NM_004211.5(SLC6A5):c.1530T>G (p.Ser510Arg)	Hyperekplexia 3 [RCV000024247]	pathogenic	11	20630721	20630721	Human	1	name
12906388	CV415261	single nucleotide variant	NM_004211.5(SLC6A5):c.1892T>C (p.Leu631Pro)	not provided [RCV000489153]	likely pathogenic	11	20638481	20638481	Human		name
12912678	CV421847	single nucleotide variant	NM_004211.5(SLC6A5):c.1928T>A (p.Ile643Asn)	not provided [RCV000492889]	likely pathogenic	11	20638517	20638517	Human		name
8570059	CV46931	single nucleotide variant	NM_004211.5(SLC6A5):c.1444T>C (p.Trp482Arg)	Hyperekplexia 3 [RCV000031924]	pathogenic	11	20628028	20628028	Human	1	name
13622933	CV526096	single nucleotide variant	NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser)	Hyperekplexia 3 [RCV000650379]\|SLC6A5-related disorder [RCV004754517]\|not provided [RCV002281121]	pathogenic\|likely pathogenic\|uncertain significance	11	20636322	20636322	Human	1	name , trait , alternate_id
13814811	CV564538	single nucleotide variant	NM_004211.5(SLC6A5):c.1913C>T (p.Ser638Phe)	Hyperekplexia 3 [RCV000705285]\|not provided [RCV001772004]	uncertain significance	11	20638502	20638502	Human	1	name
13803544	CV565583	single nucleotide variant	NM_004211.5(SLC6A5):c.1736T>C (p.Met579Thr)	Hyperekplexia 3 [RCV000684961]	uncertain significance	11	20636418	20636418	Human	1	name
13812465	CV565587	single nucleotide variant	NM_004211.5(SLC6A5):c.2296C>T (p.Arg766Cys)	Hyperekplexia 3 [RCV000703714]\|Inborn genetic diseases [RCV005278645]\|not provided [RCV004588147]	uncertain significance	11	20654770	20654770	Human	2	name
15014797	CV613456	single nucleotide variant	NM_004211.5(SLC6A5):c.1429T>C (p.Ser477Pro)	Exaggerated startle response [RCV000852297]	pathogenic	11	20628013	20628013	Human	1	name
14719676	CV639858	single nucleotide variant	NM_004211.5(SLC6A5):c.1910C>T (p.Ala637Val)	Hyperekplexia 3 [RCV000812719]	uncertain significance	11	20638499	20638499	Human	1	name
21072019	CV791122	single nucleotide variant	NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys)	Hyperekplexia 3 [RCV000988498]\|not provided [RCV001702077]	benign\|likely benign	11	20652332	20652332	Human	1	name
26906118	CV850651	single nucleotide variant	NM_004211.5(SLC6A5):c.1735A>C (p.Met579Leu)	Hyperekplexia 3 [RCV001037295]	uncertain significance	11	20636417	20636417	Human	1	name
26920336	CV850652	single nucleotide variant	NM_004211.5(SLC6A5):c.1846A>G (p.Met616Val)	Hyperekplexia 3 [RCV001059876]	uncertain significance	11	20637280	20637280	Human	1	name
26922541	CV850654	single nucleotide variant	NM_004211.5(SLC6A5):c.2167G>A (p.Ala723Thr)	Hyperekplexia 3 [RCV001062276]	uncertain significance	11	20652385	20652385	Human	1	name
38464140	CV939732	single nucleotide variant	NM_004211.5(SLC6A5):c.1286C>A (p.Pro429Gln)	Hyperekplexia 3 [RCV001212444]	uncertain significance	11	20626733	20626733	Human	1	name
38498417	CV951945	single nucleotide variant	NM_004211.5(SLC6A5):c.1668G>T (p.Arg556Ser)	Hyperekplexia 3 [RCV001227744]	uncertain significance	11	20636350	20636350	Human	1	name
151794225	CV1338201	deletion	NM_004211.5(SLC6A5):c.997_998del (p.Ile333fs)	Hyperekplexia 3 [RCV001898465]	pathogenic	11	20614689	20614690	Human	1	name
151773312	CV1437632	deletion	NM_001318369.2(SLC6A5):c.-24+2623_-24+2637del	Hyperekplexia 3 [RCV001870889]	uncertain significance	11	20604285	20604299	Human	1	name
155976897	CV2073126	microsatellite	NM_004211.5(SLC6A5):c.732CTT[2] (p.Phe246del)	Hyperekplexia 3 [RCV002842333]	uncertain significance	11	20607058	20607060	Human		name
152982198	CV1677153	microsatellite	NM_004211.5(SLC6A5):c.1486AAC[1] (p.Asn497del)	not specified [RCV002248857]	uncertain significance	11	20628068	20628070	Human		name
151779431	CV1378645	microsatellite	NM_004211.5(SLC6A5):c.1266_1267dup (p.Tyr423fs)	Hyperekplexia 3 [RCV001875217]	pathogenic	11	20626710	20626711	Human		name
151779308	CV1380241	microsatellite	NM_004211.5(SLC6A5):c.1680_1681dup (p.Pro561fs)	Hyperekplexia 3 [RCV001950916]	pathogenic	11	20636354	20636355	Human		name
8558905	CV20801	indel	NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs)	Hyperekplexia 3 [RCV000006118]	pathogenic	11	20626741	20626741	Human		name
405231250	CV3144476	microsatellite	NM_004211.5(SLC6A5):c.1680_1681del (p.Pro561fs)	Hyperekplexia 3 [RCV003852929]	pathogenic	11	20636355	20636356	Human		name
151834513	CV1489085	inversion	NM_004211.5(SLC6A5):c.1229_1230inv (p.Ser410Leu)	Hyperekplexia 3 [RCV001902142]	uncertain significance	11	20617853	20617854	Human		name
405704822	CV3225149	insertion	NM_004211.5(SLC6A5):c.2076_2077insAA (p.Leu693fs)	Hyperekplexia 3 [RCV003990105]	likely pathogenic	11	20652294	20652295	Human	1	name
151735978	CV1354791	indel	NM_004211.5(SLC6A5):c.133_134delinsAA (p.Ala45Asn)	Hyperekplexia 3 [RCV001892761]	uncertain significance	11	20601258	20601259	Human		name
151885072	CV1444767	deletion	NM_004211.5(SLC6A5):c.1759del (p.Ile586_Val587insTer)	Hyperekplexia 3 [RCV001941869]	pathogenic	11	20637193	20637193	Human	1	name
152110029	CV1536911	indel	NM_004211.5(SLC6A5):c.1386_1387delinsAA (p.Asp463Asn)	Hyperekplexia 3 [RCV002215354]	likely benign	11	20626833	20626834	Human		name
152053606	CV1575069	indel	NM_004211.5(SLC6A5):c.351_352delinsAT (p.Ala117_Leu118=)	Hyperekplexia 3 [RCV002109277]	likely benign	11	20601476	20601477	Human		name

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

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

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

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

Create Name:

Description:

Send us a Message