Vps8 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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137 records found for search term Vps8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15182100	CV744028	single nucleotide variant	NM_001009921.3(VPS8):c.354-10T>C	not provided [RCV000907742]	likely benign	3	184834639	184834639	Human		name
15170832	CV759241	single nucleotide variant	NM_001009921.3(VPS8):c.2988+7A>G	not provided [RCV000927778]	likely benign	3	184936342	184936342	Human		name
150507385	CV1256920	deletion	NM_001009921.3(VPS8):c.3036-13_3036-9del	not provided [RCV001678423]	benign	3	184957360	184957364	Human		name
407532632	CV3491461	single nucleotide variant	NM_001009921.3(VPS8):c.20A>G (p.His7Arg)	not specified [RCV004683277]	uncertain significance	3	184824652	184824652	Human		name
156142126	CV2383751	single nucleotide variant	NM_001009921.3(VPS8):c.58G>A (p.Glu20Lys)	not specified [RCV004231630]	uncertain significance	3	184824690	184824690	Human		name
597699265	CV3626688	single nucleotide variant	NM_001009921.3(VPS8):c.53C>G (p.Thr18Arg)	not specified [RCV004885499]	uncertain significance	3	184824685	184824685	Human		name
15202582	CV748141	single nucleotide variant	NM_001009921.3(VPS8):c.759A>G (p.Thr253=)	not provided [RCV000913470]	likely benign	3	184852505	184852505	Human		name
156066171	CV2225478	single nucleotide variant	NM_001009921.3(VPS8):c.193C>T (p.Pro65Ser)	not specified [RCV004100872]	uncertain significance	3	184826202	184826202	Human		name
156248813	CV2277039	single nucleotide variant	NM_001009921.3(VPS8):c.284T>C (p.Ile95Thr)	not specified [RCV004140359]	uncertain significance	3	184832750	184832750	Human		name
156241872	CV2310304	single nucleotide variant	NM_001009921.3(VPS8):c.275T>C (p.Ile92Thr)	not specified [RCV004157046]	uncertain significance	3	184832741	184832741	Human		name
405663077	CV3342222	single nucleotide variant	NM_001009921.3(VPS8):c.162C>G (p.Asp54Glu)	not specified [RCV004484918]	uncertain significance	3	184826171	184826171	Human		name
15196313	CV697965	single nucleotide variant	NM_001009921.3(VPS8):c.1140A>G (p.Leu380=)	not provided [RCV000956159]	benign	3	184855815	184855815	Human		name
15107773	CV720329	single nucleotide variant	NM_001009921.3(VPS8):c.2412A>G (p.Gln804=)	not provided [RCV000893547]	benign	3	184920156	184920156	Human		name
8630718	CV85873	single nucleotide variant	NM_001009921.2(VPS8):c.2586C>T (p.Phe862=)	Malignant melanoma [RCV000065957]	not provided	3	184926605	184926605	Human		name
156291371	CV2306065	single nucleotide variant	NM_001009921.3(VPS8):c.674T>A (p.Met225Lys)	not specified [RCV004161041]	uncertain significance	3	184849943	184849943	Human		name
156051409	CV2323343	single nucleotide variant	NM_001009921.3(VPS8):c.716A>G (p.Asp239Gly)	not specified [RCV004171751]	uncertain significance	3	184849985	184849985	Human		name
156304077	CV2359515	single nucleotide variant	NM_001009921.3(VPS8):c.589G>A (p.Gly197Ser)	not specified [RCV004214824]	uncertain significance	3	184849118	184849118	Human		name
156016980	CV2370026	single nucleotide variant	NM_001009921.3(VPS8):c.709A>G (p.Ile237Val)	not specified [RCV004210924]	uncertain significance	3	184849978	184849978	Human		name
156384285	CV2371371	single nucleotide variant	NM_001009921.3(VPS8):c.772C>G (p.Leu258Val)	not specified [RCV004223372]	uncertain significance	3	184852518	184852518	Human		name
156346327	CV2382731	single nucleotide variant	NM_001009921.3(VPS8):c.400C>T (p.Arg134Cys)	not specified [RCV004224081]	uncertain significance	3	184834695	184834695	Human		name
156162887	CV2389506	single nucleotide variant	NM_001009921.3(VPS8):c.905A>G (p.His302Arg)	not specified [RCV004243585]	uncertain significance	3	184853940	184853940	Human		name
156227812	CV2392799	single nucleotide variant	NM_001009921.3(VPS8):c.623A>G (p.Asn208Ser)	not specified [RCV004247160]	uncertain significance	3	184849152	184849152	Human		name
156219151	CV2393561	single nucleotide variant	NM_001009921.3(VPS8):c.913C>G (p.Pro305Ala)	not specified [RCV004231379]	uncertain significance	3	184853948	184853948	Human		name
329392725	CV2471426	single nucleotide variant	NM_001009921.3(VPS8):c.371A>G (p.Asp124Gly)	not specified [RCV004280427]	uncertain significance	3	184834666	184834666	Human		name
401730886	CV2674187	single nucleotide variant	NM_001009921.3(VPS8):c.757A>T (p.Thr253Ser)	not specified [RCV004289082]	uncertain significance	3	184852503	184852503	Human		name
401927623	CV2825112	single nucleotide variant	NM_001009921.3(VPS8):c.3435G>A (p.Pro1145=)	not provided [RCV003439075]	likely benign	3	184982580	184982580	Human		name
405663121	CV3342231	single nucleotide variant	NM_001009921.3(VPS8):c.3441G>A (p.Leu1147=)	not specified [RCV004484927]	likely benign	3	184982586	184982586	Human		name
405663139	CV3342235	single nucleotide variant	NM_001009921.3(VPS8):c.712A>G (p.Thr238Ala)	not specified [RCV004484931]	uncertain significance	3	184849981	184849981	Human		name
405663144	CV3342236	single nucleotide variant	NM_001009921.3(VPS8):c.833G>C (p.Gly278Ala)	not specified [RCV004484932]	uncertain significance	3	184853868	184853868	Human		name
405663149	CV3342237	single nucleotide variant	NM_001009921.3(VPS8):c.863T>G (p.Phe288Cys)	not specified [RCV004484933]	uncertain significance	3	184853898	184853898	Human		name
407465029	CV3491464	single nucleotide variant	NM_001009921.3(VPS8):c.401G>A (p.Arg134His)	not specified [RCV004688665]	uncertain significance	3	184834696	184834696	Human		name
597699256	CV3626681	single nucleotide variant	NM_001009921.3(VPS8):c.566G>T (p.Cys189Phe)	not specified [RCV004885498]	uncertain significance	3	184849095	184849095	Human		name
597686774	CV3626685	single nucleotide variant	NM_001009921.3(VPS8):c.689G>C (p.Ser230Thr)	not specified [RCV004884210]	uncertain significance	3	184849958	184849958	Human		name
597686838	CV3626693	single nucleotide variant	NM_001009921.3(VPS8):c.546G>C (p.Gln182His)	not specified [RCV004884217]	uncertain significance	3	184849075	184849075	Human		name
598217748	CV3926083	single nucleotide variant	NM_001009921.3(VPS8):c.934A>G (p.Ile312Val)	not specified [RCV005293079]	uncertain significance	3	184853969	184853969	Human		name
598255824	CV3926085	single nucleotide variant	NM_001009921.3(VPS8):c.529A>G (p.Ile177Val)	not specified [RCV005299497]	uncertain significance	3	184839746	184839746	Human		name
155982424	CV2208766	single nucleotide variant	NM_001009921.3(VPS8):c.2203G>C (p.Gly735Arg)	not specified [RCV004084951]	uncertain significance	3	184914994	184914994	Human		name
156332344	CV2220665	single nucleotide variant	NM_001009921.3(VPS8):c.2110A>G (p.Ile704Val)	not specified [RCV004097842]	uncertain significance	3	184900936	184900936	Human		name
155970609	CV2262257	single nucleotide variant	NM_001009921.3(VPS8):c.1861C>A (p.Pro621Thr)	not specified [RCV004128465]	uncertain significance	3	184894782	184894782	Human		name
155984411	CV2270591	single nucleotide variant	NM_001009921.3(VPS8):c.2863C>G (p.Gln955Glu)	not specified [RCV004137813]	uncertain significance	3	184930533	184930533	Human		name
155903259	CV2301610	single nucleotide variant	NM_001009921.3(VPS8):c.1949A>C (p.Glu650Ala)	not specified [RCV004162516]	uncertain significance	3	184894870	184894870	Human		name
156102018	CV2313531	single nucleotide variant	NM_001009921.3(VPS8):c.1274A>G (p.His425Arg)	not specified [RCV004163830]	uncertain significance	3	184862946	184862946	Human		name
156269557	CV2315009	single nucleotide variant	NM_001009921.3(VPS8):c.2795G>A (p.Arg932Gln)	not specified [RCV004164928]	uncertain significance	3	184929660	184929660	Human		name
156034316	CV2338663	single nucleotide variant	NM_001009921.3(VPS8):c.1034G>A (p.Arg345Gln)	not specified [RCV004182242]	uncertain significance	3	184854172	184854172	Human		name
156364446	CV2342006	single nucleotide variant	NM_001009921.3(VPS8):c.2675A>G (p.Glu892Gly)	not specified [RCV004184945]	uncertain significance	3	184928494	184928494	Human		name
155995090	CV2374878	single nucleotide variant	NM_001009921.3(VPS8):c.1228A>G (p.Ile410Val)	not specified [RCV004227904]	uncertain significance	3	184862900	184862900	Human		name
156391275	CV2385227	single nucleotide variant	NM_001009921.3(VPS8):c.1817G>C (p.Ser606Thr)	not specified [RCV004228473]	uncertain significance	3	184894738	184894738	Human		name
329381052	CV2464473	single nucleotide variant	NM_001009921.3(VPS8):c.2687T>A (p.Leu896His)	not specified [RCV004276394]	uncertain significance	3	184928506	184928506	Human		name
401762397	CV2714126	single nucleotide variant	NM_001009921.3(VPS8):c.2016G>T (p.Met672Ile)	not specified [RCV004317380]	uncertain significance	3	184898576	184898576	Human		name
401783560	CV2723708	single nucleotide variant	NM_001009921.3(VPS8):c.2588T>G (p.Leu863Arg)	not specified [RCV004325875]	uncertain significance	3	184926607	184926607	Human		name
401862554	CV2768383	single nucleotide variant	NM_001009921.3(VPS8):c.2102T>G (p.Phe701Cys)	not specified [RCV004350634]	uncertain significance	3	184900928	184900928	Human		name
401865708	CV2778901	single nucleotide variant	NM_001009921.3(VPS8):c.2572C>G (p.Gln858Glu)	not specified [RCV004346782]	uncertain significance	3	184924979	184924979	Human		name
405277452	CV3195821	single nucleotide variant	NM_001009921.3(VPS8):c.2917C>G (p.Pro973Ala)	VPS8-related disorder [RCV003904351]	likely benign	3	184936264	184936264	Human		name , trait , alternate_id
405266513	CV3213189	single nucleotide variant	NM_001009921.3(VPS8):c.2044A>G (p.Met682Val)	VPS8-related disorder [RCV003969334]	likely benign	3	184898604	184898604	Human		name , trait , alternate_id
405663072	CV3342221	single nucleotide variant	NM_001009921.3(VPS8):c.1295A>G (p.Gln432Arg)	not specified [RCV004484917]	uncertain significance	3	184862967	184862967	Human		name
405663082	CV3342223	single nucleotide variant	NM_001009921.3(VPS8):c.1690T>C (p.Cys564Arg)	not specified [RCV004484919]	uncertain significance	3	184870761	184870761	Human		name
405663087	CV3342224	single nucleotide variant	NM_001009921.3(VPS8):c.2162T>C (p.Met721Thr)	not specified [RCV004484920]	uncertain significance	3	184913534	184913534	Human		name
405663092	CV3342225	single nucleotide variant	NM_001009921.3(VPS8):c.2492T>C (p.Val831Ala)	not specified [RCV004484921]	uncertain significance	3	184924899	184924899	Human		name
405663096	CV3342226	single nucleotide variant	NM_001009921.3(VPS8):c.2603A>G (p.Asp868Gly)	not specified [RCV004484922]	uncertain significance	3	184926622	184926622	Human		name
405663102	CV3342227	single nucleotide variant	NM_001009921.3(VPS8):c.2881G>A (p.Ala961Thr)	not specified [RCV004484923]	uncertain significance	3	184930551	184930551	Human		name
405663918	CV3342228	single nucleotide variant	NM_001009921.3(VPS8):c.2951T>A (p.Phe984Tyr)	not specified [RCV004484924]	uncertain significance	3	184936298	184936298	Human		name
407465024	CV3491460	single nucleotide variant	NM_001009921.3(VPS8):c.2063G>C (p.Arg688Thr)	not specified [RCV004688664]	uncertain significance	3	184898623	184898623	Human		name
407532633	CV3491462	single nucleotide variant	NM_001009921.3(VPS8):c.2761A>G (p.Lys921Glu)	not specified [RCV004683278]	uncertain significance	3	184929626	184929626	Human		name
407532635	CV3491465	single nucleotide variant	NM_001009921.3(VPS8):c.2816A>G (p.Tyr939Cys)	not specified [RCV004683280]	uncertain significance	3	184930486	184930486	Human		name
407532637	CV3491467	single nucleotide variant	NM_001009921.3(VPS8):c.1613C>A (p.Ala538Asp)	not specified [RCV004683282]	uncertain significance	3	184869497	184869497	Human		name
407465033	CV3491468	single nucleotide variant	NM_001009921.3(VPS8):c.2070G>A (p.Met690Ile)	not specified [RCV004688666]	uncertain significance	3	184898630	184898630	Human		name
407450419	CV3491469	single nucleotide variant	NM_001009921.3(VPS8):c.2206C>A (p.Arg736Ser)	not specified [RCV004683283]	uncertain significance	3	184914997	184914997	Human		name
407450420	CV3491470	single nucleotide variant	NM_001009921.3(VPS8):c.2625A>T (p.Arg875Ser)	not specified [RCV004683284]	uncertain significance	3	184926644	184926644	Human		name
597699213	CV3626671	single nucleotide variant	NM_001009921.3(VPS8):c.1835A>G (p.Lys612Arg)	not specified [RCV004885493]	uncertain significance	3	184894756	184894756	Human		name
597686699	CV3626672	single nucleotide variant	NM_001009921.3(VPS8):c.1739T>C (p.Met580Thr)	not specified [RCV004884202]	likely benign	3	184886114	184886114	Human		name
597699222	CV3626675	single nucleotide variant	NM_001009921.3(VPS8):c.2333G>T (p.Arg778Leu)	not specified [RCV004885494]	uncertain significance	3	184915425	184915425	Human		name
597686725	CV3626676	single nucleotide variant	NM_001009921.3(VPS8):c.1676G>A (p.Arg559Gln)	not specified [RCV004884205]	uncertain significance	3	184870747	184870747	Human		name
597699239	CV3626679	single nucleotide variant	NM_001009921.3(VPS8):c.2815T>A (p.Tyr939Asn)	not specified [RCV004885496]	uncertain significance	3	184930485	184930485	Human		name
597686755	CV3626683	single nucleotide variant	NM_001009921.3(VPS8):c.1477T>C (p.Tyr493His)	not specified [RCV004884208]	uncertain significance	3	184868030	184868030	Human		name
597686783	CV3626686	single nucleotide variant	NM_001009921.3(VPS8):c.1678G>A (p.Ala560Thr)	not specified [RCV004884211]	uncertain significance	3	184870749	184870749	Human		name
597686792	CV3626687	single nucleotide variant	NM_001009921.3(VPS8):c.1515T>A (p.Asp505Glu)	not specified [RCV004884212]	uncertain significance	3	184868954	184868954	Human		name
597686800	CV3626689	single nucleotide variant	NM_001009921.3(VPS8):c.1642C>T (p.Arg548Trp)	not specified [RCV004884213]	uncertain significance	3	184869526	184869526	Human		name
597686810	CV3626690	single nucleotide variant	NM_001009921.3(VPS8):c.1826C>T (p.Ser609Leu)	not specified [RCV004884214]	uncertain significance	3	184894747	184894747	Human		name
597686820	CV3626691	single nucleotide variant	NM_001009921.3(VPS8):c.2235A>C (p.Glu745Asp)	not specified [RCV004884215]	uncertain significance	3	184915026	184915026	Human		name
597686845	CV3626694	single nucleotide variant	NM_001009921.3(VPS8):c.2602G>A (p.Asp868Asn)	not specified [RCV004884218]	uncertain significance	3	184926621	184926621	Human		name
598255792	CV3926078	single nucleotide variant	NM_001009921.3(VPS8):c.1285C>T (p.Arg429Trp)	not specified [RCV005299491]	uncertain significance	3	184862957	184862957	Human		name
598255798	CV3926079	single nucleotide variant	NM_001009921.3(VPS8):c.2030G>A (p.Arg677His)	not specified [RCV005299492]	uncertain significance	3	184898590	184898590	Human		name
598255803	CV3926080	single nucleotide variant	NM_001009921.3(VPS8):c.1687A>G (p.Lys563Glu)	not specified [RCV005299493]	uncertain significance	3	184870758	184870758	Human		name
598255808	CV3926081	single nucleotide variant	NM_001009921.3(VPS8):c.2540A>G (p.Asn847Ser)	not specified [RCV005299494]	uncertain significance	3	184924947	184924947	Human		name
598217756	CV3926086	single nucleotide variant	NM_001009921.3(VPS8):c.2830T>A (p.Leu944Ile)	not specified [RCV005293080]	uncertain significance	3	184930500	184930500	Human		name
598255829	CV3926087	single nucleotide variant	NM_001009921.3(VPS8):c.2148T>A (p.Asp716Glu)	not specified [RCV005299498]	uncertain significance	3	184913520	184913520	Human		name
15100338	CV720328	single nucleotide variant	NM_001009921.3(VPS8):c.1747G>A (p.Val583Ile)	VPS8-related disorder [RCV003910607]\|not provided [RCV000892090]	likely benign	3	184886122	184886122	Human		name , trait , alternate_id
15176057	CV720330	single nucleotide variant	NM_001009921.3(VPS8):c.2857G>A (p.Glu953Lys)	not provided [RCV000884502]	benign	3	184930527	184930527	Human	1	name
15176057	CV720330	single nucleotide variant	NM_001009921.3(VPS8):c.2857G>A (p.Glu953Lys)	not provided [RCV000884502]	benign	3	184930527	184930528	Human	1	name
156120149	CV2219326	single nucleotide variant	NM_001009921.3(VPS8):c.3121C>G (p.Pro1041Ala)	not specified [RCV004095173]	uncertain significance	3	184957459	184957459	Human		name
155935033	CV2225479	single nucleotide variant	NM_001009921.3(VPS8):c.3068A>G (p.Gln1023Arg)	not specified [RCV004100873]	uncertain significance	3	184957406	184957406	Human		name
156120891	CV2226966	single nucleotide variant	NM_001009921.3(VPS8):c.3802C>A (p.Arg1268Ser)	not specified [RCV004097362]	uncertain significance	3	184996467	184996467	Human		name
156251140	CV2232271	single nucleotide variant	NM_001009921.3(VPS8):c.4114C>T (p.Arg1372Cys)	not specified [RCV004105054]	uncertain significance	3	185048536	185048536	Human		name
155912588	CV2245586	single nucleotide variant	NM_001009921.3(VPS8):c.4051A>G (p.Lys1351Glu)	not specified [RCV004109662]	uncertain significance	3	185024384	185024384	Human		name
155991232	CV2255638	single nucleotide variant	NM_001009921.3(VPS8):c.3937A>G (p.Asn1313Asp)	not specified [RCV004120045]	uncertain significance	3	184999796	184999796	Human		name
156092625	CV2256687	single nucleotide variant	NM_001009921.3(VPS8):c.3668C>T (p.Thr1223Ile)	not specified [RCV004118862]	uncertain significance	3	184996333	184996333	Human		name
156114707	CV2264096	single nucleotide variant	NM_001009921.3(VPS8):c.3478G>C (p.Ala1160Pro)	not specified [RCV004138106]	uncertain significance	3	184982623	184982623	Human		name
155907368	CV2276360	single nucleotide variant	NM_001009921.3(VPS8):c.3553G>A (p.Ala1185Thr)	not specified [RCV004144101]	uncertain significance	3	184983062	184983062	Human		name
156274100	CV2320232	single nucleotide variant	NM_001009921.3(VPS8):c.4277C>A (p.Thr1426Asn)	not specified [RCV004169850]	uncertain significance	3	185052015	185052015	Human		name
156289229	CV2333090	single nucleotide variant	NM_001009921.3(VPS8):c.3912G>T (p.Trp1304Cys)	not specified [RCV004194385]	uncertain significance	3	184999771	184999771	Human		name
156079839	CV2337385	single nucleotide variant	NM_001009921.3(VPS8):c.3383A>G (p.Gln1128Arg)	not specified [RCV004187830]	uncertain significance	3	184971715	184971715	Human		name
156281354	CV2338454	single nucleotide variant	NM_001009921.3(VPS8):c.3289C>T (p.Leu1097Phe)	not specified [RCV004186496]	uncertain significance	3	184966686	184966686	Human		name
156260391	CV2359270	single nucleotide variant	NM_001009921.3(VPS8):c.3826A>G (p.Ile1276Val)	not specified [RCV004212558]	uncertain significance	3	184996491	184996491	Human		name
156055413	CV2361387	single nucleotide variant	NM_001009921.3(VPS8):c.3164G>A (p.Arg1055His)	not specified [RCV004218589]	uncertain significance	3	184957502	184957502	Human		name
155985326	CV2368089	single nucleotide variant	NM_001009921.3(VPS8):c.3406C>G (p.Gln1136Glu)	not specified [RCV004216441]	uncertain significance	3	184971738	184971738	Human		name
156260621	CV2381186	single nucleotide variant	NM_001009921.3(VPS8):c.3019A>C (p.Ser1007Arg)	not specified [RCV004227258]	uncertain significance	3	184940227	184940227	Human		name
156068682	CV2381187	single nucleotide variant	NM_001009921.3(VPS8):c.3020G>T (p.Ser1007Ile)	not specified [RCV004227259]	uncertain significance	3	184940228	184940228	Human		name
329369225	CV2450573	single nucleotide variant	NM_001009921.3(VPS8):c.3856T>C (p.Ser1286Pro)	not specified [RCV004265475]	uncertain significance	3	184999715	184999715	Human		name
329390265	CV2453833	single nucleotide variant	NM_001009921.3(VPS8):c.3523C>G (p.Gln1175Glu)	not specified [RCV004271234]	uncertain significance	3	184983032	184983032	Human		name
401731017	CV2686838	single nucleotide variant	NM_001009921.3(VPS8):c.3097A>G (p.Ile1033Val)	not specified [RCV004302018]	uncertain significance	3	184957435	184957435	Human		name
401731155	CV2693632	single nucleotide variant	NM_001009921.3(VPS8):c.3617A>G (p.Glu1206Gly)	not specified [RCV004297970]	uncertain significance	3	184994014	184994014	Human		name
401742401	CV2697768	single nucleotide variant	NM_001009921.3(VPS8):c.4058G>A (p.Gly1353Glu)	not specified [RCV004300494]	uncertain significance	3	185048480	185048480	Human		name
401734432	CV2709500	single nucleotide variant	NM_001009921.3(VPS8):c.4214C>T (p.Pro1405Leu)	not specified [RCV004318741]	uncertain significance	3	185051952	185051952	Human		name
401731003	CV2711608	single nucleotide variant	NM_001009921.3(VPS8):c.4179G>C (p.Glu1393Asp)	not specified [RCV004306911]	likely benign	3	185051917	185051917	Human		name
401884437	CV2789683	single nucleotide variant	NM_001009921.3(VPS8):c.3596A>G (p.Tyr1199Cys)	not specified [RCV004360274]	uncertain significance	3	184993993	184993993	Human		name
401892782	CV2791785	single nucleotide variant	NM_001009921.3(VPS8):c.3971A>T (p.Glu1324Val)	not specified [RCV004353103]	uncertain significance	3	184999830	184999830	Human		name
405663111	CV3342229	single nucleotide variant	NM_001009921.3(VPS8):c.3227T>C (p.Leu1076Ser)	not specified [RCV004484925]	uncertain significance	3	184964511	184964511	Human		name
405663115	CV3342230	single nucleotide variant	NM_001009921.3(VPS8):c.3434C>T (p.Pro1145Leu)	not specified [RCV004484926]	uncertain significance	3	184982579	184982579	Human		name
405663124	CV3342232	single nucleotide variant	NM_001009921.3(VPS8):c.3499G>A (p.Glu1167Lys)	not specified [RCV004484928]	uncertain significance	3	184982644	184982644	Human		name
405663130	CV3342233	single nucleotide variant	NM_001009921.3(VPS8):c.3596A>T (p.Tyr1199Phe)	not specified [RCV004484929]	uncertain significance	3	184993993	184993993	Human		name
405663134	CV3342234	single nucleotide variant	NM_001009921.3(VPS8):c.3981G>C (p.Lys1327Asn)	not specified [RCV004484930]	uncertain significance	3	184999840	184999840	Human		name
407532631	CV3491459	single nucleotide variant	NM_001009921.3(VPS8):c.4202C>T (p.Ser1401Leu)	not specified [RCV004683276]	uncertain significance	3	185051940	185051940	Human		name
407532634	CV3491463	single nucleotide variant	NM_001009921.3(VPS8):c.3518C>T (p.Thr1173Ile)	not specified [RCV004683279]	uncertain significance	3	184983027	184983027	Human		name
407532636	CV3491466	single nucleotide variant	NM_001009921.3(VPS8):c.3215C>T (p.Thr1072Ile)	not specified [RCV004683281]	uncertain significance	3	184964499	184964499	Human		name
597686708	CV3626673	single nucleotide variant	NM_001009921.3(VPS8):c.4168C>T (p.Arg1390Cys)	not specified [RCV004884203]	uncertain significance	3	185051906	185051906	Human		name
597686718	CV3626674	single nucleotide variant	NM_001009921.3(VPS8):c.3160T>C (p.Tyr1054His)	not specified [RCV004884204]	uncertain significance	3	184957498	184957498	Human		name
597686735	CV3626677	single nucleotide variant	NM_001009921.3(VPS8):c.3134T>C (p.Ile1045Thr)	not specified [RCV004884206]	uncertain significance	3	184957472	184957472	Human		name
597699230	CV3626678	single nucleotide variant	NM_001009921.3(VPS8):c.3533A>G (p.Asn1178Ser)	not specified [RCV004885495]	uncertain significance	3	184983042	184983042	Human		name
597699248	CV3626680	single nucleotide variant	NM_001009921.3(VPS8):c.3329A>T (p.Asp1110Val)	not specified [RCV004885497]	uncertain significance	3	184971661	184971661	Human		name
597686746	CV3626682	single nucleotide variant	NM_001009921.3(VPS8):c.3719T>C (p.Leu1240Ser)	not specified [RCV004884207]	uncertain significance	3	184996384	184996384	Human		name
597686765	CV3626684	single nucleotide variant	NM_001009921.3(VPS8):c.3991A>G (p.Thr1331Ala)	not specified [RCV004884209]	uncertain significance	3	184999850	184999850	Human		name
597686829	CV3626692	single nucleotide variant	NM_001009921.3(VPS8):c.4081C>T (p.Pro1361Ser)	not specified [RCV004884216]	uncertain significance	3	185048503	185048503	Human		name
598255814	CV3926082	single nucleotide variant	NM_001009921.3(VPS8):c.3214A>G (p.Thr1072Ala)	not specified [RCV005299495]	uncertain significance	3	184964498	184964498	Human		name
598255819	CV3926084	single nucleotide variant	NM_001009921.3(VPS8):c.4121A>G (p.Tyr1374Cys)	not specified [RCV005299496]	uncertain significance	3	185048543	185048543	Human		name
598255834	CV3926088	single nucleotide variant	NM_001009921.3(VPS8):c.3172G>C (p.Glu1058Gln)	not specified [RCV005299499]	uncertain significance	3	184957510	184957510	Human		name
15187075	CV697966	single nucleotide variant	NM_001009921.3(VPS8):c.4115G>A (p.Arg1372His)	not provided [RCV000953479]	benign	3	185048537	185048537	Human		name
25317017	CV804998	single nucleotide variant	NM_001009921.3(VPS8):c.3130G>A (p.Val1044Ile)	Flexion contracture [RCV001007776]	uncertain significance	3	184957468	184957468	Human	2	name

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