Hes7 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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127 records found for search term Hes7

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150478010	CV1281802	single nucleotide variant	NM_001165967.2(HES7):c.*81G>T	not provided [RCV001714221]	benign	17	8121490	8121490	Human		name
13832614	CV584693	single nucleotide variant	NM_001165967.2(HES7):c.*12T>G	not provided [RCV000728726]	uncertain significance	17	8121559	8121559	Human		name
150509568	CV1229924	single nucleotide variant	NM_001165967.2(HES7):c.*131G>T	not provided [RCV001636504]	benign	17	8121440	8121440	Human		name
152059624	CV1532764	single nucleotide variant	NM_001165967.2(HES7):c.43-7G>A	not provided [RCV002208495]	likely benign\|conflicting interpretations of pathogenicity	17	8123133	8123133	Human		name
156222549	CV2173358	single nucleotide variant	NM_001165967.2(HES7):c.43-3C>T	not provided [RCV003025251]	uncertain significance	17	8123129	8123129	Human		name
597861534	CV3770236	single nucleotide variant	NM_001165967.2(HES7):c.42+9C>A	not provided [RCV005106089]	likely benign	17	8124034	8124034	Human		name
150483505	CV1245122	single nucleotide variant	NM_001165967.2(HES7):c.42+43T>C	not provided [RCV001653299]	benign	17	8124000	8124000	Human		name
151793976	CV1337392	single nucleotide variant	NM_001165967.2(HES7):c.226+3A>G	not provided [RCV001917090]	uncertain significance	17	8122340	8122340	Human		name
152171087	CV1543944	single nucleotide variant	NM_001165967.2(HES7):c.227-3C>T	not provided [RCV002161986]	likely benign	17	8122040	8122040	Human		name
156393925	CV1983504	single nucleotide variant	NM_001165967.2(HES7):c.138+6T>G	not provided [RCV002604941]	uncertain significance	17	8123025	8123025	Human		name
156234768	CV2173274	single nucleotide variant	NM_001165967.2(HES7):c.226+9C>T	not provided [RCV003059441]	likely benign	17	8122334	8122334	Human		name
11643590	CV271216	single nucleotide variant	NM_001165967.2(HES7):c.138+9C>T	not provided [RCV000396620]	uncertain significance	17	8123022	8123022	Human		name
597867693	CV3739163	single nucleotide variant	NM_001165967.2(HES7):c.226+7C>T	not provided [RCV005068230]	likely benign	17	8122336	8122336	Human		name
597917624	CV3741187	single nucleotide variant	NM_001165967.2(HES7):c.139-9C>G	not provided [RCV005074334]	likely benign	17	8122439	8122439	Human		name
152158665	CV1557240	single nucleotide variant	NM_001165967.2(HES7):c.138+18C>T	not provided [RCV002203054]	likely benign	17	8123013	8123013	Human		name
156416136	CV1984004	single nucleotide variant	NM_001165967.2(HES7):c.138+13G>C	not provided [RCV002610013]	likely benign	17	8123018	8123018	Human		name
156204713	CV2021400	single nucleotide variant	NM_001165967.2(HES7):c.226+17G>A	not provided [RCV002711526]	likely benign	17	8122326	8122326	Human		name
405166277	CV2857575	single nucleotide variant	NM_001165967.2(HES7):c.138+15T>C	not provided [RCV003541811]	likely benign	17	8123016	8123016	Human		name
405155581	CV3159404	single nucleotide variant	NM_001165967.2(HES7):c.138+20C>T	not provided [RCV003856669]	likely benign	17	8123011	8123011	Human		name
405246084	CV3161869	single nucleotide variant	NM_001165967.2(HES7):c.139-12T>A	not provided [RCV003868582]	likely benign	17	8122442	8122442	Human		name
597908041	CV3781603	single nucleotide variant	NM_001165967.2(HES7):c.226+17G>C	not provided [RCV005128291]	likely benign	17	8122326	8122326	Human		name
597898633	CV3826655	single nucleotide variant	NM_001165967.2(HES7):c.138+19C>G	not provided [RCV005180788]	likely benign	17	8123012	8123012	Human		name
150456172	CV1236850	single nucleotide variant	NM_001165967.2(HES7):c.138+271G>C	not provided [RCV001648586]	benign	17	8122760	8122760	Human		name
597952647	CV3756891	single nucleotide variant	NM_001165967.2(HES7):c.9C>T (p.Thr3=)	not provided [RCV005079752]	likely benign	17	8124076	8124076	Human		name
152128067	CV1596487	single nucleotide variant	NM_001165967.2(HES7):c.10C>A (p.Arg4=)	not provided [RCV002118714]	likely benign	17	8124075	8124075	Human		name
405237028	CV2973616	single nucleotide variant	NM_001165967.2(HES7):c.12G>C (p.Arg4=)	not provided [RCV003683255]	likely benign	17	8124073	8124073	Human		name
156280262	CV2074704	single nucleotide variant	NM_001165967.2(HES7):c.48C>G (p.Leu16=)	not provided [RCV002856356]	likely benign	17	8123121	8123121	Human		name
151799029	CV1467223	single nucleotide variant	NM_001165967.2(HES7):c.225G>T (p.Pro75=)	not provided [RCV001898886]	uncertain significance	17	8122344	8122344	Human		name
152138581	CV1563541	single nucleotide variant	NM_001165967.2(HES7):c.276G>T (p.Ala92=)	not provided [RCV002200279]	likely benign	17	8121988	8121988	Human		name
152166397	CV1566347	single nucleotide variant	NM_001165967.2(HES7):c.246T>A (p.Val82=)	not provided [RCV002160641]	likely benign	17	8122018	8122018	Human		name
152069413	CV1640171	single nucleotide variant	NM_001165967.2(HES7):c.255C>T (p.Ser85=)	not provided [RCV002147870]	likely benign	17	8122009	8122009	Human		name
155917076	CV2063217	single nucleotide variant	NM_001165967.2(HES7):c.129C>G (p.Thr43=)	not provided [RCV002838121]	likely benign	17	8123040	8123040	Human		name
11547646	CV256551	single nucleotide variant	NM_001165967.2(HES7):c.175T>C (p.Leu59=)	not provided [RCV001515400]\|not specified [RCV000248034]	benign	17	8122394	8122394	Human		name
11543895	CV256552	single nucleotide variant	NM_001165967.2(HES7):c.123G>A (p.Glu41=)	not provided [RCV001514028]\|not specified [RCV000243071]	benign	17	8123046	8123046	Human		name
405118166	CV2955803	single nucleotide variant	NM_001165967.2(HES7):c.237T>C (p.Ala79=)	not provided [RCV003671176]	likely benign	17	8122027	8122027	Human		name
405254113	CV3174984	single nucleotide variant	NM_001165967.2(HES7):c.102G>A (p.Glu34=)	not provided [RCV003871436]	likely benign	17	8123067	8123067	Human		name
597967290	CV3751800	single nucleotide variant	NM_001165967.2(HES7):c.150C>T (p.Asn50=)	not provided [RCV005083170]	likely benign	17	8122419	8122419	Human		name
597906869	CV3773109	single nucleotide variant	NM_001165967.2(HES7):c.250C>A (p.Arg84=)	not provided [RCV005113173]	likely benign	17	8122014	8122014	Human		name
597951278	CV3847140	single nucleotide variant	NM_001165967.2(HES7):c.297C>G (p.Ser99=)	not provided [RCV005190312]	likely benign	17	8121967	8121967	Human		name
598128461	CV3887665	single nucleotide variant	NM_001165967.2(HES7):c.205C>A (p.Arg69=)	not provided [RCV005243839]	likely benign	17	8122364	8122364	Human		name
15200982	CV727559	single nucleotide variant	NM_001165967.2(HES7):c.168G>C (p.Ala56=)	not provided [RCV000891063]	likely benign	17	8122401	8122401	Human		name
127256609	CV1083778	single nucleotide variant	NM_001165967.2(HES7):c.306C>A (p.Arg102=)	not provided [RCV001419083]	likely benign	17	8121958	8121958	Human		name
152155884	CV1561048	single nucleotide variant	NM_001165967.2(HES7):c.348C>T (p.Ser116=)	not provided [RCV002102927]	likely benign	17	8121916	8121916	Human		name
152172987	CV1572574	single nucleotide variant	NM_001165967.2(HES7):c.615A>G (p.Pro205=)	not provided [RCV002162645]	likely benign	17	8121649	8121649	Human		name
152128365	CV1599720	single nucleotide variant	NM_001165967.2(HES7):c.525C>T (p.Ser175=)	not provided [RCV002136616]	likely benign	17	8121739	8121739	Human		name
152150960	CV1605531	single nucleotide variant	NM_001165967.2(HES7):c.579C>A (p.Gly193=)	not provided [RCV002102221]	likely benign	17	8121685	8121685	Human		name
152083523	CV1647882	single nucleotide variant	NM_001165967.2(HES7):c.621G>A (p.Pro207=)	not provided [RCV002076684]	likely benign	17	8121643	8121643	Human		name
152126035	CV1665871	single nucleotide variant	NM_001165967.2(HES7):c.465C>T (p.Ala155=)	not provided [RCV002198684]	likely benign	17	8121799	8121799	Human		name
155748719	CV1772246	single nucleotide variant	NM_001165967.2(HES7):c.55C>G (p.Leu19Val)	not provided [RCV002303843]	uncertain significance	17	8123114	8123114	Human		name
155953831	CV1915213	single nucleotide variant	NM_001165967.2(HES7):c.462C>T (p.Pro154=)	not provided [RCV002616368]	likely benign	17	8121802	8121802	Human		name
156415431	CV1958453	single nucleotide variant	NM_001165967.2(HES7):c.378G>T (p.Ala126=)	not provided [RCV002589165]	likely benign	17	8121886	8121886	Human		name
156332372	CV1966605	single nucleotide variant	NM_001165967.2(HES7):c.88C>A (p.Arg30Ser)	Inborn genetic diseases [RCV003289537]\|not provided [RCV002600865]	uncertain significance	17	8123081	8123081	Human	1	name
156225494	CV2005990	single nucleotide variant	NM_001165967.2(HES7):c.561G>C (p.Pro187=)	not provided [RCV002667385]	likely benign	17	8121703	8121703	Human		name
156099449	CV2164234	single nucleotide variant	NM_001165967.2(HES7):c.56T>C (p.Leu19Pro)	not provided [RCV003038524]	uncertain significance	17	8123113	8123113	Human		name
11551087	CV256550	single nucleotide variant	NM_001165967.2(HES7):c.402A>G (p.Lys134=)	not provided [RCV001515399]\|not specified [RCV000252591]	benign	17	8121862	8121862	Human		name
11637084	CV268851	single nucleotide variant	NM_001165967.2(HES7):c.420G>A (p.Pro140=)	HES7-related disorder [RCV003967739]\|not provided [RCV000278747]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	8121844	8121844	Human	1	name , trait , alternate_id
11640383	CV273045	single nucleotide variant	NM_001165967.2(HES7):c.591C>T (p.Pro197=)	HES7-related disorder [RCV003940061]\|not provided [RCV000337016]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	8121673	8121673	Human	1	name , trait , alternate_id
405066192	CV2937149	single nucleotide variant	NM_001165967.2(HES7):c.396C>T (p.Arg132=)	not provided [RCV003663620]	likely benign	17	8121868	8121868	Human		name
405142320	CV3055952	single nucleotide variant	NM_001165967.2(HES7):c.387C>T (p.Gly129=)	not provided [RCV003725758]	likely benign	17	8121877	8121877	Human		name
597951408	CV3756451	single nucleotide variant	NM_001165967.2(HES7):c.330C>T (p.Ala110=)	not provided [RCV005079508]	likely benign	17	8121934	8121934	Human		name
597898593	CV3806974	single nucleotide variant	NM_001165967.2(HES7):c.390T>C (p.Tyr130=)	not provided [RCV005152361]	likely benign	17	8121874	8121874	Human		name
597914509	CV3851116	single nucleotide variant	NM_001165967.2(HES7):c.585G>A (p.Pro195=)	not provided [RCV005204084]	likely benign	17	8121679	8121679	Human		name
8602301	CV39653	single nucleotide variant	NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)	Spondylocostal dysostosis 2, autosomal recessive [RCV002269820]\|Spondylocostal dysostosis 4, autosomal recessive [RCV000034271]	pathogenic\|not provided	17	8123096	8123096	Human	2	name
13783980	CV550633	single nucleotide variant	NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)	Spondylocostal dysostosis 4, autosomal recessive [RCV000677670]	likely pathogenic	17	8123083	8123083	Human	1	name
15182610	CV727558	single nucleotide variant	NM_001165967.2(HES7):c.444G>A (p.Pro148=)	HES7-related disorder [RCV003948370]\|not provided [RCV000886031]	likely benign	17	8121820	8121820	Human	1	name , trait , alternate_id
15127704	CV771971	single nucleotide variant	NM_001165967.2(HES7):c.639G>A (p.Gly213=)	not provided [RCV000941587]	likely benign	17	8121625	8121625	Human		name
15178358	CV771972	single nucleotide variant	NM_001165967.2(HES7):c.618G>A (p.Pro206=)	not provided [RCV000929380]	likely benign	17	8121646	8121646	Human		name
126764283	CV998055	single nucleotide variant	NM_001165967.2(HES7):c.43A>T (p.Met15Leu)	Inborn genetic diseases [RCV004036188]\|not provided [RCV001301029]	uncertain significance	17	8123126	8123126	Human	1	name
150556492	CV1303179	single nucleotide variant	NM_001165967.2(HES7):c.141C>A (p.Asn47Lys)	not provided [RCV001774372]	uncertain significance	17	8122428	8122428	Human		name
151860059	CV1374005	single nucleotide variant	NM_001165967.2(HES7):c.296C>T (p.Ser99Phe)	Inborn genetic diseases [RCV002556443]\|not provided [RCV001938427]	uncertain significance	17	8121968	8121968	Human	1	name
151847912	CV1445569	single nucleotide variant	NM_001165967.2(HES7):c.184G>T (p.Ala62Ser)	not provided [RCV001995580]	uncertain significance	17	8122385	8122385	Human		name
155268412	CV1701803	single nucleotide variant	NM_001165967.2(HES7):c.173T>G (p.Ile58Arg)	Spondylocostal dysostosis 4, autosomal recessive [RCV002284035]\|not provided [RCV003097660]	uncertain significance	17	8122396	8122396	Human	1	name
156099720	CV1920663	single nucleotide variant	NM_001165967.2(HES7):c.119T>C (p.Leu40Pro)	Inborn genetic diseases [RCV002592229]\|not provided [RCV002592230]	uncertain significance	17	8123050	8123050	Human	1	name
156272584	CV2131665	single nucleotide variant	NM_001165967.2(HES7):c.178G>A (p.Glu60Lys)	not provided [RCV002988873]	uncertain significance	17	8122391	8122391	Human		name
155961128	CV2131842	single nucleotide variant	NM_001165967.2(HES7):c.210C>G (p.Ser70Arg)	not provided [RCV002995159]	uncertain significance	17	8122359	8122359	Human		name
156048448	CV2241660	single nucleotide variant	NM_001165967.2(HES7):c.193T>C (p.Tyr65His)	Inborn genetic diseases [RCV002781878]	uncertain significance	17	8122376	8122376	Human	1	name
401886195	CV2771671	single nucleotide variant	NM_001165967.2(HES7):c.224C>G (p.Pro75Arg)	Inborn genetic diseases [RCV003366775]	uncertain significance	17	8122345	8122345	Human	1	name
405176898	CV3023687	single nucleotide variant	NM_001165967.2(HES7):c.184G>A (p.Ala62Thr)	not provided [RCV003705075]	uncertain significance	17	8122385	8122385	Human		name
407429812	CV3414279	single nucleotide variant	NM_001165967.2(HES7):c.113T>C (p.Leu38Pro)	Spondylocostal dysostosis 4, autosomal recessive [RCV004595870]	likely pathogenic	17	8123056	8123056	Human	1	name
597691302	CV3685634	single nucleotide variant	NM_001165967.2(HES7):c.260T>G (p.Val87Gly)	Inborn genetic diseases [RCV004985793]	uncertain significance	17	8122004	8122004	Human	1	name
8602303	CV39655	single nucleotide variant	NM_001165967.2(HES7):c.172A>G (p.Ile58Val)	Spondylocostal dysostosis 4, autosomal recessive [RCV001807739]	pathogenic	17	8122397	8122397	Human	1	name
126913538	CV1050783	single nucleotide variant	NM_001165967.2(HES7):c.682C>G (p.Pro228Ala)	not provided [RCV001359213]	uncertain significance	17	8121582	8121582	Human		name
151798824	CV1376723	single nucleotide variant	NM_001165967.2(HES7):c.566C>T (p.Ala189Val)	not provided [RCV001932115]	uncertain significance	17	8121698	8121698	Human		name
151856502	CV1401893	single nucleotide variant	NM_001165967.2(HES7):c.596C>T (p.Thr199Ile)	Inborn genetic diseases [RCV004631915]\|not provided [RCV002017245]	uncertain significance	17	8121668	8121668	Human	1	name
151880963	CV1406038	single nucleotide variant	NM_001165967.2(HES7):c.511C>A (p.Gln171Lys)	not provided [RCV001941027]	uncertain significance	17	8121753	8121753	Human		name
151769237	CV1411261	single nucleotide variant	NM_001165967.2(HES7):c.637G>C (p.Gly213Arg)	not provided [RCV002045081]	uncertain significance	17	8121627	8121627	Human		name
151739620	CV1437645	single nucleotide variant	NM_001165967.2(HES7):c.380T>G (p.Leu127Arg)	not provided [RCV001870893]	uncertain significance	17	8121884	8121884	Human		name
151806635	CV1449807	single nucleotide variant	NM_001165967.2(HES7):c.350C>A (p.Pro117Gln)	not provided [RCV001899559]	uncertain significance	17	8121914	8121914	Human		name
151776502	CV1449942	single nucleotide variant	NM_001165967.2(HES7):c.326C>A (p.Ala109Glu)	not provided [RCV001864567]	uncertain significance	17	8121938	8121938	Human		name
151803512	CV1462685	single nucleotide variant	NM_001165967.2(HES7):c.409C>G (p.Arg137Gly)	not provided [RCV002028319]	uncertain significance	17	8121855	8121855	Human		name
151892300	CV1480827	single nucleotide variant	NM_001165967.2(HES7):c.417G>T (p.Lys139Asn)	Inborn genetic diseases [RCV004631840]\|not provided [RCV001943970]	uncertain significance	17	8121847	8121847	Human	1	name
151740376	CV1490556	single nucleotide variant	NM_001165967.2(HES7):c.614C>T (p.Pro205Leu)	not provided [RCV001985184]	uncertain significance	17	8121650	8121650	Human		name
151788403	CV1495718	single nucleotide variant	NM_001165967.2(HES7):c.487C>G (p.Leu163Val)	not provided [RCV002026975]	uncertain significance	17	8121777	8121777	Human		name
151729076	CV1505318	single nucleotide variant	NM_001165967.2(HES7):c.682C>T (p.Pro228Ser)	not provided [RCV002021103]	uncertain significance	17	8121582	8121582	Human		name
151729138	CV1505323	single nucleotide variant	NM_001165967.2(HES7):c.394C>T (p.Arg132Cys)	not provided [RCV002021108]	uncertain significance	17	8121870	8121870	Human		name
151753399	CV1509037	single nucleotide variant	NM_001165967.2(HES7):c.551T>C (p.Leu184Pro)	not provided [RCV002043520]	uncertain significance	17	8121713	8121713	Human		name
156365059	CV1912918	single nucleotide variant	NM_001165967.2(HES7):c.460C>G (p.Pro154Ala)	not provided [RCV002602766]	uncertain significance	17	8121804	8121804	Human		name
156129149	CV1966129	single nucleotide variant	NM_001165967.2(HES7):c.605T>C (p.Leu202Pro)	not provided [RCV002593428]	uncertain significance	17	8121659	8121659	Human		name
156329787	CV1969871	single nucleotide variant	NM_001165967.2(HES7):c.403C>T (p.Pro135Ser)	not provided [RCV002600731]	uncertain significance	17	8121861	8121861	Human		name
156323021	CV1976304	single nucleotide variant	NM_001165967.2(HES7):c.383A>G (p.His128Arg)	not provided [RCV002600354]	uncertain significance	17	8121881	8121881	Human		name
156396900	CV1980618	single nucleotide variant	NM_001165967.2(HES7):c.389A>C (p.Tyr130Ser)	not provided [RCV002605204]	uncertain significance	17	8121875	8121875	Human		name
156328360	CV1982461	single nucleotide variant	NM_001165967.2(HES7):c.557C>A (p.Ser186Tyr)	not provided [RCV002649681]	uncertain significance	17	8121707	8121707	Human		name
156358875	CV2006865	single nucleotide variant	NM_001165967.2(HES7):c.377C>G (p.Ala126Gly)	not provided [RCV002676112]	uncertain significance	17	8121887	8121887	Human		name
156011776	CV2039319	single nucleotide variant	NM_001165967.2(HES7):c.424G>T (p.Asp142Tyr)	Inborn genetic diseases [RCV004983133]\|not provided [RCV002756724]	uncertain significance	17	8121840	8121840	Human	1	name
155950558	CV2046684	single nucleotide variant	NM_001165967.2(HES7):c.466G>T (p.Ala156Ser)	not provided [RCV002775753]	uncertain significance	17	8121798	8121798	Human		name
155975039	CV2149006	single nucleotide variant	NM_001165967.2(HES7):c.583C>G (p.Pro195Ala)	not provided [RCV003016114]	uncertain significance	17	8121681	8121681	Human		name
156113967	CV2208867	single nucleotide variant	NM_001165967.2(HES7):c.515G>C (p.Gly172Ala)	Inborn genetic diseases [RCV002707390]	uncertain significance	17	8121749	8121749	Human	1	name
156095001	CV2300351	single nucleotide variant	NM_001165967.2(HES7):c.406C>T (p.Pro136Ser)	Inborn genetic diseases [RCV002870071]	uncertain significance	17	8121858	8121858	Human	1	name
329399448	CV2470102	single nucleotide variant	NM_001165967.2(HES7):c.389A>G (p.Tyr130Cys)	Inborn genetic diseases [RCV003220930]	uncertain significance	17	8121875	8121875	Human	1	name
401870169	CV2765690	single nucleotide variant	NM_001165967.2(HES7):c.521C>T (p.Pro174Leu)	Inborn genetic diseases [RCV003361128]	uncertain significance	17	8121743	8121743	Human	1	name
405209050	CV3117259	single nucleotide variant	NM_001165967.2(HES7):c.681A>T (p.Arg227Ser)	not provided [RCV003823046]	uncertain significance	17	8121583	8121583	Human		name
405803274	CV3273862	single nucleotide variant	NM_001165967.2(HES7):c.358C>G (p.Arg120Gly)	Inborn genetic diseases [RCV004404358]	uncertain significance	17	8121906	8121906	Human	1	name
405803276	CV3273863	single nucleotide variant	NM_001165967.2(HES7):c.428C>G (p.Pro143Arg)	Inborn genetic diseases [RCV004404359]	uncertain significance	17	8121836	8121836	Human	1	name
405803278	CV3273864	single nucleotide variant	NM_001165967.2(HES7):c.577G>A (p.Gly193Ser)	Inborn genetic diseases [RCV004404360]	uncertain significance	17	8121687	8121687	Human	1	name
407521807	CV3437177	single nucleotide variant	NM_001165967.2(HES7):c.503C>T (p.Pro168Leu)	Inborn genetic diseases [RCV004630493]	uncertain significance	17	8121761	8121761	Human	1	name
407521809	CV3437178	single nucleotide variant	NM_001165967.2(HES7):c.425A>G (p.Asp142Gly)	Inborn genetic diseases [RCV004630494]	uncertain significance	17	8121839	8121839	Human	1	name
407521813	CV3437179	single nucleotide variant	NM_001165967.2(HES7):c.578G>A (p.Gly193Asp)	Inborn genetic diseases [RCV004630495]	uncertain significance	17	8121686	8121686	Human	1	name
407521817	CV3437181	single nucleotide variant	NM_001165967.2(HES7):c.521C>A (p.Pro174His)	Inborn genetic diseases [RCV004630497]	uncertain significance	17	8121743	8121743	Human	1	name
8602302	CV39654	single nucleotide variant	NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)	Spondylocostal dysostosis 4, autosomal recessive [RCV001807738]	pathogenic	17	8121693	8121693	Human	1	name
598247725	CV3978663	single nucleotide variant	NM_001165967.2(HES7):c.596C>G (p.Thr199Ser)	Inborn genetic diseases [RCV005345343]	uncertain significance	17	8121668	8121668	Human	1	name
15103065	CV756271	single nucleotide variant	NM_001165967.2(HES7):c.395G>T (p.Arg132Leu)	HES7-related disorder [RCV003923216]\|Inborn genetic diseases [RCV004029382]\|not provided [RCV000915091]	likely benign\|uncertain significance	17	8121869	8121869	Human	2	name , trait , alternate_id
26897611	CV846489	single nucleotide variant	NM_001165967.2(HES7):c.398C>A (p.Pro133His)	not provided [RCV001065948]	uncertain significance	17	8121866	8121866	Human		name
126766442	CV998054	single nucleotide variant	NM_001165967.2(HES7):c.419C>G (p.Pro140Arg)	not provided [RCV001301881]	uncertain significance	17	8121845	8121845	Human		name
151860050	CV1403851	microsatellite	NM_001165967.2(HES7):c.602TGC[3] (p.Leu202dup)	not provided [RCV001980010]	uncertain significance	17	8121656	8121657	Human		name
8639102	CV96881	duplication	NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)	Spondylocostal dysostosis 4, autosomal recessive [RCV001807779]\|not provided [RCV001854347]	pathogenic\|likely pathogenic	17	8121854	8121855	Human	1	name
151742095	CV1390813	duplication	NM_001165967.2(HES7):c.438_461dup (p.Pro148_Ala155dup)	not provided [RCV001985336]	uncertain significance	17	8121802	8121803	Human		name
13832314	CV582808	deletion	NM_001165967.2(HES7):c.402_416del (p.Pro136_Pro140del)	not provided [RCV000723001]	uncertain significance	17	8121848	8121862	Human		name

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