Krt86 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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148 records found for search term Krt86

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150485844	CV1273926	single nucleotide variant	NM_001320198.2(KRT86):c.*94A>G	not provided [RCV001698818]	benign	12	52308679	52308679	Human		name
405284430	CV3210045	single nucleotide variant	NM_001320198.2(KRT86):c.*10G>C	KRT86-related disorder [RCV003922328]	likely benign	12	52308595	52308595	Human		name , trait , alternate_id
150331076	CV1169532	single nucleotide variant	NM_001320198.2(KRT86):c.*127C>T	not provided [RCV001536314]	benign	12	52308712	52308712	Human		name
150461367	CV1253232	single nucleotide variant	NM_001320198.2(KRT86):c.*287A>G	not provided [RCV001669561]	benign	12	52308872	52308872	Human		name
150450660	CV1254139	single nucleotide variant	NM_001320198.2(KRT86):c.*264G>A	not provided [RCV001667777]	benign	12	52308849	52308849	Human		name
150451161	CV1261509	duplication	NM_001320198.2(KRT86):c.*279dup	not provided [RCV001680711]	benign	12	52308856	52308857	Human		name
126912092	CV1038161	single nucleotide variant	NM_001320198.2(KRT86):c.735+4C>A	not provided [RCV001356130]	uncertain significance	12	52305031	52305031	Human		name
150406098	CV1177636	single nucleotide variant	NM_001320198.2(KRT86):c.370-9G>A	not provided [RCV001545156]	likely benign	12	52303091	52303091	Human		name
150507413	CV1256927	single nucleotide variant	NM_001320198.2(KRT86):c.-4-67C>T	not provided [RCV001678430]	benign	12	52301846	52301846	Human		name
150404619	CV1194697	single nucleotide variant	NM_001320198.2(KRT86):c.901-28A>G	not provided [RCV001571254]	likely benign	12	52305635	52305635	Human		name
150495537	CV1205031	single nucleotide variant	NM_001320198.2(KRT86):c.736-60T>C	not provided [RCV001593523]	likely benign	12	52305180	52305180	Human		name
150450522	CV1215256	single nucleotide variant	NM_001320198.2(KRT86):c.579-86G>C	not provided [RCV001611846]	benign	12	52304025	52304025	Human		name
150465399	CV1218013	single nucleotide variant	NM_001320198.2(KRT86):c.579-89C>T	not provided [RCV001614138]	benign	12	52304022	52304022	Human		name
150501662	CV1238457	single nucleotide variant	NM_001320198.2(KRT86):c.900+25G>T	not provided [RCV001656887]	benign	12	52305429	52305429	Human		name
150450164	CV1260922	single nucleotide variant	NM_001320198.2(KRT86):c.579-93T>C	not provided [RCV001680591]	benign	12	52304018	52304018	Human		name
405293482	CV3192654	single nucleotide variant	NM_001320198.2(KRT86):c.1280-9C>G	KRT86-related disorder [RCV003931866]	likely benign	12	52308395	52308395	Human		name , trait , alternate_id
150330831	CV1169531	single nucleotide variant	NM_001320198.2(KRT86):c.639+281C>T	not provided [RCV001536158]	benign	12	52304452	52304452	Human		name
150333345	CV1172442	deletion	NM_001320198.2(KRT86):c.370-249del	not provided [RCV001539448]	benign	12	52302842	52302842	Human		name
150333794	CV1172443	single nucleotide variant	NM_001320198.2(KRT86):c.579-144C>G	not provided [RCV001539649]	benign	12	52303967	52303967	Human		name
150335846	CV1172444	single nucleotide variant	NM_001320198.2(KRT86):c.639+269C>T	not provided [RCV001540730]	benign	12	52304440	52304440	Human		name
150415289	CV1198393	single nucleotide variant	NM_001320198.2(KRT86):c.1027-15C>T	not provided [RCV001575334]	likely benign	12	52306045	52306045	Human		name
150432439	CV1200646	deletion	NM_001320198.2(KRT86):c.639+275del	not provided [RCV001581369]	likely benign	12	52304446	52304446	Human		name
150463043	CV1206674	single nucleotide variant	NM_001320198.2(KRT86):c.900+114C>T	not provided [RCV001587075]	likely benign	12	52305518	52305518	Human		name
150472404	CV1217175	single nucleotide variant	NM_001320198.2(KRT86):c.1247+36C>A	not provided [RCV001615470]	benign	12	52306316	52306316	Human		name
150437136	CV1220673	single nucleotide variant	NM_001320198.2(KRT86):c.579-147A>C	not provided [RCV001609658]	benign	12	52303964	52303964	Human		name
150472817	CV1235122	single nucleotide variant	NM_001320198.2(KRT86):c.639+301A>T	not provided [RCV001651491]	benign	12	52304472	52304472	Human		name
150487046	CV1237269	single nucleotide variant	NM_001320198.2(KRT86):c.639+280G>T	not provided [RCV001654117]	benign	12	52304451	52304451	Human		name
150511017	CV1242578	single nucleotide variant	NM_001320198.2(KRT86):c.578+178G>C	not provided [RCV001660930]	benign	12	52303486	52303486	Human		name
150491168	CV1251147	single nucleotide variant	NM_001320198.2(KRT86):c.639+271A>G	not provided [RCV001674815]	benign	12	52304442	52304442	Human		name
150500493	CV1256109	single nucleotide variant	NM_001320198.2(KRT86):c.639+275C>T	not provided [RCV001676733]	benign	12	52304446	52304446	Human		name
150472672	CV1259336	single nucleotide variant	NM_001320198.2(KRT86):c.639+290C>A	not provided [RCV001684582]	benign	12	52304461	52304461	Human		name
150460944	CV1264246	single nucleotide variant	NM_001320198.2(KRT86):c.639+273T>G	not provided [RCV001682163]	benign	12	52304444	52304444	Human		name
150458343	CV1269620	duplication	NM_001320198.2(KRT86):c.370-249dup	not provided [RCV001693160]	benign	12	52302841	52302842	Human		name
150458649	CV1278803	single nucleotide variant	NM_001320198.2(KRT86):c.579-151T>C	not provided [RCV001709420]	benign	12	52303960	52303960	Human		name
150425212	CV1184722	single nucleotide variant	NM_001320198.2(KRT86):c.1248-271T>C	not provided [RCV001557708]	likely benign	12	52307962	52307962	Human		name
150420853	CV1198394	single nucleotide variant	NM_001320198.2(KRT86):c.1247+191C>G	not provided [RCV001577791]	likely benign	12	52306471	52306471	Human		name
150452598	CV1205546	single nucleotide variant	NM_001320198.2(KRT86):c.1248-152C>T	not provided [RCV001585447]	likely benign	12	52308081	52308081	Human		name
150466086	CV1255681	single nucleotide variant	NM_001320198.2(KRT86):c.1027-116G>A	not provided [RCV001670315]	benign	12	52305944	52305944	Human		name
150446064	CV1261305	single nucleotide variant	NM_001320198.2(KRT86):c.1248-309T>C	not provided [RCV001679979]	benign	12	52307924	52307924	Human		name
401929452	CV2807017	deletion	NM_001320198.2(KRT86):c.-5+10305del	KRT86-related disorder [RCV003929042]\|not provided [RCV003390241]	benign	12	52286248	52286248	Human	1	name , trait , alternate_id
150505951	CV1226225	duplication	NM_001320198.2(KRT86):c.278_279dup	not provided [RCV001635593]	benign	12	52308856	52308857	Human		name
150482142	CV1209919	single nucleotide variant	NM_001320198.2(KRT86):c.60C>G (p.Pro20=)	not provided [RCV001590617]	benign\|likely benign	12	52301976	52301976	Human		name
150453609	CV1219857	single nucleotide variant	NM_001320198.2(KRT86):c.87C>T (p.Ala29=)	not provided [RCV001612238]	benign	12	52302003	52302003	Human		name
150477346	CV1240017	single nucleotide variant	NM_001320198.2(KRT86):c.54C>T (p.Cys18=)	not provided [RCV001652195]	benign	12	52301970	52301970	Human		name
598196024	CV3980620	single nucleotide variant	NM_001320198.2(KRT86):c.99T>C (p.Arg33=)	Inborn genetic diseases [RCV005355109]	likely benign	12	52302015	52302015	Human	1	name
150420826	CV1194695	deletion	NM_001320198.2(KRT86):c.639+269_639+271del	not provided [RCV001570288]	likely benign	12	52304440	52304442	Human		name
150417972	CV1194696	single nucleotide variant	NM_001320198.2(KRT86):c.756C>G (p.Ser252=)	not provided [RCV001569006]	likely benign	12	52305260	52305260	Human		name
150472023	CV1217115	single nucleotide variant	NM_001320198.2(KRT86):c.684T>C (p.Asn228=)	Monilethrix [RCV002501966]\|not provided [RCV001615410]	benign\|likely benign	12	52304976	52304976	Human	2	name
150501686	CV1224253	deletion	NM_001320198.2(KRT86):c.370-250_370-249del	not provided [RCV001620894]	benign	12	52302842	52302843	Human		name
150513711	CV1229120	duplication	NM_001320198.2(KRT86):c.370-250_370-249dup	not provided [RCV001637962]	benign	12	52302841	52302842	Human		name
150446779	CV1261413	single nucleotide variant	NM_001320198.2(KRT86):c.873T>C (p.Ala291=)	not provided [RCV001680087]	benign	12	52305377	52305377	Human		name
150484531	CV1273787	single nucleotide variant	NM_001320198.2(KRT86):c.636G>A (p.Lys212=)	not provided [RCV001698518]	benign	12	52304168	52304168	Human		name
401932152	CV2807020	single nucleotide variant	NM_001320198.2(KRT86):c.993G>A (p.Arg331=)	not provided [RCV003391834]	uncertain significance	12	52305755	52305755	Human		name
597694268	CV3695785	single nucleotide variant	NM_001320198.2(KRT86):c.97C>T (p.Arg33Cys)	Inborn genetic diseases [RCV004986202]	uncertain significance	12	52302013	52302013	Human	1	name
597694328	CV3695794	single nucleotide variant	NM_001320198.2(KRT86):c.62G>C (p.Arg21Pro)	Inborn genetic diseases [RCV004986210]	uncertain significance	12	52301978	52301978	Human	1	name
598172774	CV3980615	single nucleotide variant	NM_001320198.2(KRT86):c.98G>T (p.Arg33Leu)	Inborn genetic diseases [RCV005370825]	uncertain significance	12	52302014	52302014	Human	1	name
8622427	CV77446	single nucleotide variant	NM_001320198.2(KRT86):c.348G>A (p.Arg116=)	not provided [RCV000056964]	benign\|not provided	12	52302264	52302264	Human		name
150424175	CV1184721	single nucleotide variant	NM_001320198.2(KRT86):c.1044T>C (p.Ala348=)	not provided [RCV001556318]	likely benign	12	52306077	52306077	Human		name
150506321	CV1242186	single nucleotide variant	NM_001320198.2(KRT86):c.1002T>C (p.Ala334=)	not provided [RCV001658539]	benign	12	52305764	52305764	Human		name
150460346	CV1253094	insertion	NM_001320198.2(KRT86):c.370-255_370-254insA	not provided [RCV001669423]	benign	12	52302845	52302846	Human		name
156336606	CV2270857	single nucleotide variant	NM_001320198.2(KRT86):c.136G>A (p.Gly46Ser)	Inborn genetic diseases [RCV002835820]	uncertain significance	12	52302052	52302052	Human	1	name
156180290	CV2356078	single nucleotide variant	NM_001320198.2(KRT86):c.148G>A (p.Val50Met)	Inborn genetic diseases [RCV002984000]	uncertain significance	12	52302064	52302064	Human	1	name
156303946	CV2359481	single nucleotide variant	NM_001320198.2(KRT86):c.232A>T (p.Ile78Phe)	Inborn genetic diseases [RCV003010538]	uncertain significance	12	52302148	52302148	Human	1	name
156266050	CV2389124	single nucleotide variant	NM_001320198.2(KRT86):c.226C>G (p.Pro76Ala)	Inborn genetic diseases [RCV002769746]	uncertain significance	12	52302142	52302142	Human	1	name
329396894	CV2468305	single nucleotide variant	NM_001320198.2(KRT86):c.242T>C (p.Val81Ala)	Inborn genetic diseases [RCV003219770]	uncertain significance	12	52302158	52302158	Human	1	name
401741687	CV2676503	single nucleotide variant	NM_001320198.2(KRT86):c.161T>C (p.Phe54Ser)	Inborn genetic diseases [RCV003251512]	uncertain significance	12	52302077	52302077	Human	1	name
405653497	CV3269566	single nucleotide variant	NM_001320198.2(KRT86):c.163C>T (p.Arg55Trp)	Inborn genetic diseases [RCV004414630]	uncertain significance	12	52302079	52302079	Human	1	name
405653500	CV3269567	single nucleotide variant	NM_001320198.2(KRT86):c.169G>T (p.Gly57Cys)	Inborn genetic diseases [RCV004414631]	uncertain significance	12	52302085	52302085	Human	1	name
405653502	CV3269568	single nucleotide variant	NM_001320198.2(KRT86):c.206G>A (p.Gly69Asp)	Inborn genetic diseases [RCV004414632]	uncertain significance	12	52302122	52302122	Human	1	name
405653505	CV3269569	single nucleotide variant	NM_001320198.2(KRT86):c.224C>T (p.Pro75Leu)	Inborn genetic diseases [RCV004414633]	uncertain significance	12	52302140	52302140	Human	1	name
597694240	CV3695780	single nucleotide variant	NM_001320198.2(KRT86):c.205G>A (p.Gly69Ser)	Inborn genetic diseases [RCV004986198]	uncertain significance	12	52302121	52302121	Human	1	name
597694280	CV3695787	single nucleotide variant	NM_001320198.2(KRT86):c.118G>A (p.Gly40Ser)	Inborn genetic diseases [RCV004986204]	uncertain significance	12	52302034	52302034	Human	1	name
597694289	CV3695788	single nucleotide variant	NM_001320198.2(KRT86):c.164G>C (p.Arg55Pro)	Inborn genetic diseases [RCV004986205]	uncertain significance	12	52302080	52302080	Human	1	name
597694315	CV3695792	single nucleotide variant	NM_001320198.2(KRT86):c.181C>G (p.Arg61Gly)	Inborn genetic diseases [RCV004986208]	uncertain significance	12	52302097	52302097	Human	1	name
598172779	CV3980616	single nucleotide variant	NM_001320198.2(KRT86):c.255G>C (p.Glu85Asp)	Inborn genetic diseases [RCV005370826]	uncertain significance	12	52302171	52302171	Human	1	name
15160282	CV702360	single nucleotide variant	NM_001320198.2(KRT86):c.1053T>C (p.Ala351=)	Monilethrix [RCV002489293]\|not provided [RCV000947452]	benign\|likely benign	12	52306086	52306086	Human	2	name
15160289	CV702361	single nucleotide variant	NM_001320198.2(KRT86):c.1102T>C (p.Leu368=)	Monilethrix [RCV002502909]\|not provided [RCV000947453]	benign\|likely benign	12	52306135	52306135	Human	2	name
8622425	CV77444	single nucleotide variant	NM_001320198.2(KRT86):c.197G>A (p.Arg66His)	not provided [RCV000056961]	benign\|likely benign\|not provided	12	52302113	52302113	Human		name
156069863	CV2203871	single nucleotide variant	NM_001320198.2(KRT86):c.415C>A (p.Gln139Lys)	Inborn genetic diseases [RCV002660176]	likely benign	12	52303145	52303145	Human	1	name
156308238	CV2249483	single nucleotide variant	NM_001320198.2(KRT86):c.641A>T (p.Asp214Val)	Inborn genetic diseases [RCV002808733]	uncertain significance	12	52304933	52304933	Human	1	name
8597595	CV22651	single nucleotide variant	NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)	Monilethrix [RCV000008051]\|not provided [RCV000056963]	pathogenic\|not provided	12	52302256	52302256	Human	2	name
8597597	CV22653	single nucleotide variant	NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)	Monilethrix [RCV000008053]\|not provided [RCV000056965]	pathogenic\|not provided	12	52302269	52302269	Human	2	name
155958263	CV2282173	single nucleotide variant	NM_001320198.2(KRT86):c.311A>C (p.Gln104Pro)	Inborn genetic diseases [RCV002841062]	uncertain significance	12	52302227	52302227	Human	1	name
156135068	CV2284706	single nucleotide variant	NM_001320198.2(KRT86):c.690G>C (p.Glu230Asp)	Inborn genetic diseases [RCV002849941]	uncertain significance	12	52304982	52304982	Human	1	name
156345873	CV2308926	single nucleotide variant	NM_001320198.2(KRT86):c.878C>A (p.Ala293Asp)	Inborn genetic diseases [RCV002939171]\|not provided [RCV005099849]	uncertain significance	12	52305382	52305382	Human	1	name
156047130	CV2315666	single nucleotide variant	NM_001320198.2(KRT86):c.812T>C (p.Met271Thr)	Inborn genetic diseases [RCV002924246]	uncertain significance	12	52305316	52305316	Human	1	name
156082132	CV2333939	single nucleotide variant	NM_001320198.2(KRT86):c.743G>T (p.Arg248Leu)	Inborn genetic diseases [RCV002926236]	uncertain significance	12	52305247	52305247	Human	1	name
156292136	CV2340009	single nucleotide variant	NM_001320198.2(KRT86):c.722G>A (p.Arg241Gln)	Inborn genetic diseases [RCV002961693]	uncertain significance	12	52305014	52305014	Human	1	name
155913920	CV2341886	single nucleotide variant	NM_001320198.2(KRT86):c.862C>T (p.Arg288Cys)	Inborn genetic diseases [RCV002968372]	uncertain significance	12	52305366	52305366	Human	1	name
156329703	CV2342442	single nucleotide variant	NM_001320198.2(KRT86):c.856G>T (p.Val286Phe)	Inborn genetic diseases [RCV002964022]	uncertain significance	12	52305360	52305360	Human	1	name
156115520	CV2349311	single nucleotide variant	NM_001320198.2(KRT86):c.950G>A (p.Arg317His)	Inborn genetic diseases [RCV002980888]	uncertain significance	12	52305712	52305712	Human	1	name
155994659	CV2377589	single nucleotide variant	NM_001320198.2(KRT86):c.893G>A (p.Arg298His)	Inborn genetic diseases [RCV002733614]	uncertain significance	12	52305397	52305397	Human	1	name
329397779	CV2464007	single nucleotide variant	NM_001320198.2(KRT86):c.856G>A (p.Val286Ile)	Inborn genetic diseases [RCV003220174]	uncertain significance	12	52305360	52305360	Human	1	name
401878959	CV2754901	single nucleotide variant	NM_001320198.2(KRT86):c.880G>A (p.Glu294Lys)	Inborn genetic diseases [RCV003349238]	uncertain significance	12	52305384	52305384	Human	1	name
401932151	CV2807019	single nucleotide variant	NM_001320198.2(KRT86):c.947G>A (p.Arg316His)	not provided [RCV003391833]	uncertain significance	12	52305709	52305709	Human		name
405653507	CV3269570	single nucleotide variant	NM_001320198.2(KRT86):c.728A>C (p.Tyr243Ser)	Inborn genetic diseases [RCV004414634]	uncertain significance	12	52305020	52305020	Human	1	name
405653510	CV3269571	single nucleotide variant	NM_001320198.2(KRT86):c.742C>T (p.Arg248Cys)	Inborn genetic diseases [RCV004414635]	uncertain significance	12	52305246	52305246	Human	1	name
405653512	CV3269572	single nucleotide variant	NM_001320198.2(KRT86):c.775G>A (p.Val259Met)	Inborn genetic diseases [RCV004414636]	uncertain significance	12	52305279	52305279	Human	1	name
405653515	CV3269573	single nucleotide variant	NM_001320198.2(KRT86):c.817T>C (p.Cys273Arg)	Inborn genetic diseases [RCV004414637]	uncertain significance	12	52305321	52305321	Human	1	name
405653517	CV3269574	single nucleotide variant	NM_001320198.2(KRT86):c.842A>C (p.Gln281Pro)	Inborn genetic diseases [RCV004414638]	uncertain significance	12	52305346	52305346	Human	1	name
405653520	CV3269575	single nucleotide variant	NM_001320198.2(KRT86):c.863G>A (p.Arg288His)	Inborn genetic diseases [RCV004414639]	uncertain significance	12	52305367	52305367	Human	1	name
405653522	CV3269576	single nucleotide variant	NM_001320198.2(KRT86):c.893G>T (p.Arg298Leu)	Inborn genetic diseases [RCV004414640]	uncertain significance	12	52305397	52305397	Human	1	name
407480069	CV3445685	single nucleotide variant	NM_001320198.2(KRT86):c.661C>T (p.Arg221Cys)	Inborn genetic diseases [RCV004639627]	uncertain significance	12	52304953	52304953	Human	1	name
407460087	CV3445686	single nucleotide variant	NM_001320198.2(KRT86):c.764C>T (p.Ser255Leu)	Inborn genetic diseases [RCV004633753]	uncertain significance	12	52305268	52305268	Human	1	name
407480074	CV3445687	single nucleotide variant	NM_001320198.2(KRT86):c.869G>A (p.Arg290Gln)	Inborn genetic diseases [RCV004639628]	uncertain significance	12	52305373	52305373	Human	1	name
407460090	CV3445691	single nucleotide variant	NM_001320198.2(KRT86):c.998C>T (p.Thr333Met)	Inborn genetic diseases [RCV004633754]	uncertain significance	12	52305760	52305760	Human	1	name
407480091	CV3445692	single nucleotide variant	NM_001320198.2(KRT86):c.685G>A (p.Val229Met)	Inborn genetic diseases [RCV004639632]	uncertain significance	12	52304977	52304977	Human	1	name
407460093	CV3445693	single nucleotide variant	NM_001320198.2(KRT86):c.692C>T (p.Ala231Val)	Inborn genetic diseases [RCV004633755]	uncertain significance	12	52304984	52304984	Human	1	name
407504842	CV3495905	single nucleotide variant	NM_001320198.2(KRT86):c.382G>C (p.Glu128Gln)	not provided [RCV004697745]	uncertain significance	12	52303112	52303112	Human		name
597694249	CV3695782	single nucleotide variant	NM_001320198.2(KRT86):c.662G>A (p.Arg221His)	Inborn genetic diseases [RCV004986199]	uncertain significance	12	52304954	52304954	Human	1	name
597694261	CV3695784	single nucleotide variant	NM_001320198.2(KRT86):c.970G>A (p.Glu324Lys)	Inborn genetic diseases [RCV004986201]	uncertain significance	12	52305732	52305732	Human	1	name
597694272	CV3695786	single nucleotide variant	NM_001320198.2(KRT86):c.301T>G (p.Cys101Gly)	Inborn genetic diseases [RCV004986203]	uncertain significance	12	52302217	52302217	Human	1	name
597694306	CV3695790	single nucleotide variant	NM_001320198.2(KRT86):c.652G>A (p.Ala218Thr)	Inborn genetic diseases [RCV004986207]	uncertain significance	12	52304944	52304944	Human	1	name
598196006	CV3980611	single nucleotide variant	NM_001320198.2(KRT86):c.728A>G (p.Tyr243Cys)	Inborn genetic diseases [RCV005355104]	uncertain significance	12	52305020	52305020	Human	1	name
598172769	CV3980612	single nucleotide variant	NM_001320198.2(KRT86):c.949C>T (p.Arg317Cys)	Inborn genetic diseases [RCV005370824]	uncertain significance	12	52305711	52305711	Human	1	name
598200348	CV4007433	single nucleotide variant	NM_001320198.2(KRT86):c.911T>C (p.Met304Thr)	MONILETHRIX 1 [RCV005398263]	uncertain significance	12	52305673	52305673	Human	1	name
13446293	CV437936	single nucleotide variant	NM_001320198.2(KRT86):c.884C>G (p.Ser295Cys)	not provided [RCV000513530]	uncertain significance	12	52305388	52305388	Human		name
15160276	CV702359	single nucleotide variant	NM_001320198.2(KRT86):c.979C>T (p.Arg327Cys)	not provided [RCV000947451]	benign	12	52305741	52305741	Human		name
8622426	CV77445	single nucleotide variant	NM_001320198.2(KRT86):c.340A>C (p.Asn114His)	not provided [RCV000056962]	not provided	12	52302256	52302256	Human		name
8622428	CV77447	single nucleotide variant	NM_001320198.2(KRT86):c.416A>C (p.Gln139Pro)	not provided [RCV000056966]	benign\|not provided	12	52303146	52303146	Human		name
156332028	CV2218251	single nucleotide variant	NM_001320198.2(KRT86):c.1184C>G (p.Ser395Cys)	Inborn genetic diseases [RCV002673435]	uncertain significance	12	52306217	52306217	Human	1	name
8597592	CV22648	single nucleotide variant	NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys)	Monilethrix [RCV000008048]\|not provided [RCV000056959]	pathogenic\|not provided	12	52306270	52306270	Human	2	name
8597593	CV22649	single nucleotide variant	NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp)	Monilethrix [RCV000008049]\|not provided [RCV000056960]	pathogenic\|not provided	12	52306272	52306272	Human	2	name
8597594	CV22650	single nucleotide variant	NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys)	Monilethrix [RCV000008050]\|not provided [RCV000056957]	pathogenic\|not provided	12	52306237	52306237	Human	2	name
8597596	CV22652	single nucleotide variant	NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln)	Monilethrix [RCV000008052]\|not provided [RCV000056958]	pathogenic\|not provided	12	52306237	52306237	Human	2	name
156077461	CV2318553	single nucleotide variant	NM_001320198.2(KRT86):c.1393G>C (p.Gly465Arg)	Inborn genetic diseases [RCV002925973]	uncertain significance	12	52308517	52308517	Human	1	name
156169055	CV2345509	single nucleotide variant	NM_001320198.2(KRT86):c.1093C>T (p.Arg365Cys)	Inborn genetic diseases [RCV002983380]	uncertain significance	12	52306126	52306126	Human	1	name
329366096	CV2438097	single nucleotide variant	NM_001320198.2(KRT86):c.1169A>G (p.Gln390Arg)	Inborn genetic diseases [RCV003207565]	uncertain significance	12	52306202	52306202	Human	1	name
401734004	CV2697927	single nucleotide variant	NM_001320198.2(KRT86):c.1378A>G (p.Ser460Gly)	Inborn genetic diseases [RCV003249358]	likely benign	12	52308502	52308502	Human	1	name
401770138	CV2710921	single nucleotide variant	NM_001320198.2(KRT86):c.1148C>A (p.Ala383Asp)	Inborn genetic diseases [RCV003260936]	uncertain significance	12	52306181	52306181	Human	1	name
401884379	CV2761257	single nucleotide variant	NM_001320198.2(KRT86):c.1160G>A (p.Arg387Lys)	Inborn genetic diseases [RCV003351144]	likely benign	12	52306193	52306193	Human	1	name
401899666	CV2761260	single nucleotide variant	NM_001320198.2(KRT86):c.1156A>C (p.Ile386Leu)	Inborn genetic diseases [RCV003377987]	likely benign	12	52306189	52306189	Human	1	name
405653486	CV3269562	single nucleotide variant	NM_001320198.2(KRT86):c.1261G>A (p.Val421Ile)	Inborn genetic diseases [RCV004414626]	uncertain significance	12	52308246	52308246	Human	1	name
405653489	CV3269563	single nucleotide variant	NM_001320198.2(KRT86):c.1367T>A (p.Val456Asp)	Inborn genetic diseases [RCV004414627]	uncertain significance	12	52308491	52308491	Human	1	name
405653492	CV3269564	single nucleotide variant	NM_001320198.2(KRT86):c.1418C>T (p.Ser473Phe)	Inborn genetic diseases [RCV004414628]	uncertain significance	12	52308542	52308542	Human	1	name
405653494	CV3269565	single nucleotide variant	NM_001320198.2(KRT86):c.1457G>A (p.Cys486Tyr)	Inborn genetic diseases [RCV004414629]	uncertain significance	12	52308581	52308581	Human	1	name
407480079	CV3445688	single nucleotide variant	NM_001320198.2(KRT86):c.1178T>C (p.Met393Thr)	Inborn genetic diseases [RCV004639629]	uncertain significance	12	52306211	52306211	Human	1	name
407480084	CV3445689	single nucleotide variant	NM_001320198.2(KRT86):c.1117G>A (p.Gly373Ser)	Inborn genetic diseases [RCV004639630]	uncertain significance	12	52306150	52306150	Human	1	name
407480087	CV3445690	single nucleotide variant	NM_001320198.2(KRT86):c.1342G>C (p.Val448Leu)	Inborn genetic diseases [RCV004639631]	uncertain significance	12	52308466	52308466	Human	1	name
597694254	CV3695783	single nucleotide variant	NM_001320198.2(KRT86):c.1081C>G (p.Leu361Val)	Inborn genetic diseases [RCV004986200]	uncertain significance	12	52306114	52306114	Human	1	name
597694297	CV3695789	single nucleotide variant	NM_001320198.2(KRT86):c.1210G>A (p.Ala404Thr)	Inborn genetic diseases [RCV004986206]	uncertain significance	12	52306243	52306243	Human	1	name
597694321	CV3695793	single nucleotide variant	NM_001320198.2(KRT86):c.1205A>G (p.Glu402Gly)	Inborn genetic diseases [RCV004986209]	uncertain significance	12	52306238	52306238	Human	1	name
598196010	CV3980613	single nucleotide variant	NM_001320198.2(KRT86):c.1337C>A (p.Ala446Asp)	Inborn genetic diseases [RCV005355105]	uncertain significance	12	52308461	52308461	Human	1	name
598196017	CV3980617	single nucleotide variant	NM_001320198.2(KRT86):c.1078G>T (p.Ala360Ser)	Inborn genetic diseases [RCV005355107]	uncertain significance	12	52306111	52306111	Human	1	name
598172784	CV3980618	single nucleotide variant	NM_001320198.2(KRT86):c.1153C>A (p.Leu385Met)	Inborn genetic diseases [RCV005370827]	uncertain significance	12	52306186	52306186	Human	1	name
598196021	CV3980619	single nucleotide variant	NM_001320198.2(KRT86):c.1135A>G (p.Lys379Glu)	Inborn genetic diseases [RCV005355108]	uncertain significance	12	52306168	52306168	Human	1	name
150422543	CV1181022	insertion	NM_001320198.2(KRT86):c.639+277_639+278insGTTT	not provided [RCV001552784]	likely benign	12	52304448	52304449	Human		name
598200355	CV4007434	duplication	NM_001320198.2(KRT86):c.212_235dup (p.Ile78_Thr79insSerGlyProSerProProCysIle)	MONILETHRIX 1 [RCV005398264]	uncertain significance	12	52302127	52302128	Human	1	name

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