Krt83 Variant Search Result - Rat Genome Database

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221 records found for search term Krt83

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11610997	CV317737	single nucleotide variant	NM_002282.3(KRT83):c.*23G>T	Monilethrix [RCV000388907]\|not provided [RCV004706994]	benign\|likely benign	12	52314608	52314608	Human	2	name
11619823	CV325606	single nucleotide variant	NM_002282.3(KRT83):c.*44C>T	Monilethrix [RCV000329684]	likely benign\|uncertain significance	12	52314587	52314587	Human	2	name
28910327	CV870088	single nucleotide variant	NM_002282.3(KRT83):c.*60C>A	Monilethrix [RCV001109080]	uncertain significance	12	52314571	52314571	Human	2	name
28910567	CV870101	single nucleotide variant	NM_002282.3(KRT83):c.-58C>A	Monilethrix [RCV001109282]	uncertain significance	12	52321393	52321393	Human	2	name
11659238	CV317734	single nucleotide variant	NM_002282.3(KRT83):c.*225C>T	Monilethrix [RCV000356010]	uncertain significance	12	52314406	52314406	Human	2	name
11600559	CV317735	single nucleotide variant	NM_002282.3(KRT83):c.*107T>G	Monilethrix [RCV000274693]	uncertain significance	12	52314524	52314524	Human	2	name
11618943	CV331858	single nucleotide variant	NM_002282.3(KRT83):c.*174C>T	Monilethrix [RCV000319289]\|not provided [RCV001612980]	benign	12	52314457	52314457	Human	2	name
11617354	CV333345	deletion	NM_002282.3(KRT83):c.*324del	Monilethrix [RCV000303517]	benign	12	52314307	52314307	Human	2	name
11623533	CV333358	single nucleotide variant	NM_002282.3(KRT83):c.*138C>T	Monilethrix [RCV000373928]\|not provided [RCV001597066]	benign	12	52314493	52314493	Human	2	name
28872776	CV870085	single nucleotide variant	NM_002282.3(KRT83):c.*268A>C	Monilethrix [RCV001114700]	uncertain significance	12	52314363	52314363	Human	2	name
28872777	CV870086	single nucleotide variant	NM_002282.3(KRT83):c.*135C>T	Monilethrix [RCV001114701]	uncertain significance	12	52314496	52314496	Human	2	name
28910326	CV870087	single nucleotide variant	NM_002282.3(KRT83):c.*102T>G	Monilethrix [RCV001109079]	uncertain significance	12	52314529	52314529	Human	2	name
126745636	CV1017644	single nucleotide variant	NM_002282.3(KRT83):c.594-2A>C	Erythrokeratodermia variabilis et progressiva 5 [RCV001330705]	pathogenic	12	52317972	52317972	Human		name
156314303	CV1907059	single nucleotide variant	NM_002282.3(KRT83):c.915+8G>T	KRT83-related disorder [RCV003943796]\|not provided [RCV003088629]	likely benign	12	52316851	52316851	Human	1	name , trait , alternate_id
155953962	CV1915228	single nucleotide variant	NM_002282.3(KRT83):c.915+7G>A	not provided [RCV002616375]	likely benign	12	52316852	52316852	Human		name
156334894	CV2000916	single nucleotide variant	NM_002282.3(KRT83):c.915+5G>A	not provided [RCV002650020]	uncertain significance	12	52316854	52316854	Human		name
156342970	CV2186035	single nucleotide variant	NM_002282.3(KRT83):c.751-4G>A	not provided [RCV003047844]	likely benign	12	52317027	52317027	Human		name
405294256	CV3214711	single nucleotide variant	NM_002282.3(KRT83):c.385-9G>C	KRT83-related disorder [RCV003934144]	likely benign	12	52319373	52319373	Human		name , trait , alternate_id
597867876	CV3790361	single nucleotide variant	NM_002282.3(KRT83):c.385-3C>T	not provided [RCV005142784]	uncertain significance	12	52319367	52319367	Human		name
150339063	CV1167563	single nucleotide variant	NM_002282.3(KRT83):c.655-64G>A	not provided [RCV001534034]	benign	12	52317840	52317840	Human	1	name
150339063	CV1167563	single nucleotide variant	NM_002282.3(KRT83):c.655-64G>A	not provided [RCV001534034]	benign	12	52317840	52317841	Human	1	name
150340165	CV1168269	single nucleotide variant	NM_002282.3(KRT83):c.751-90A>G	not provided [RCV001535061]	benign	12	52317113	52317113	Human		name
150513918	CV1227965	single nucleotide variant	NM_002282.3(KRT83):c.594-22C>T	not provided [RCV001638243]	benign	12	52317992	52317992	Human		name
150514211	CV1228109	single nucleotide variant	NM_002282.3(KRT83):c.751-91C>T	not provided [RCV001638387]	benign	12	52317114	52317114	Human		name
150437124	CV1249818	deletion	NM_002282.3(KRT83):c.385-52del	not provided [RCV001665732]	benign	12	52319416	52319416	Human		name
150441662	CV1265820	single nucleotide variant	NM_002282.3(KRT83):c.750+90C>G	not provided [RCV001690545]	benign	12	52317591	52317591	Human		name
150494564	CV1267374	single nucleotide variant	NM_002282.3(KRT83):c.593+42T>C	not provided [RCV001688402]	benign	12	52319114	52319114	Human		name
150450015	CV1275750	single nucleotide variant	NM_002282.3(KRT83):c.385-70G>A	not provided [RCV001708205]	benign	12	52319434	52319434	Human		name
150484491	CV1280477	single nucleotide variant	NM_002282.3(KRT83):c.750+49T>C	not provided [RCV001715392]	benign	12	52317632	52317632	Human		name
156211599	CV1909789	single nucleotide variant	NM_002282.3(KRT83):c.1041+9G>T	not provided [RCV002596084]	likely benign	12	52316459	52316459	Human		name
405130925	CV3133412	single nucleotide variant	NM_002282.3(KRT83):c.385-20G>A	not provided [RCV003838382]	likely benign	12	52319384	52319384	Human		name
11599033	CV317743	single nucleotide variant	NM_002282.3(KRT83):c.1042-4C>A	Monilethrix [RCV000262169]\|not provided [RCV002520815]	benign\|likely benign	12	52316117	52316117	Human	2	name
11622242	CV325671	single nucleotide variant	NM_002282.3(KRT83):c.593+15G>A	Monilethrix [RCV000358198]	benign\|uncertain significance	12	52319141	52319141	Human	2	name
11623042	CV331865	single nucleotide variant	NM_002282.3(KRT83):c.1041+5C>T	Monilethrix [RCV000367402]	benign\|uncertain significance	12	52316463	52316463	Human	2	name
11618309	CV333367	single nucleotide variant	NM_002282.3(KRT83):c.1041+6A>G	Monilethrix [RCV000312793]\|not provided [RCV001698760]	benign	12	52316462	52316462	Human	2	name
11620462	CV333400	single nucleotide variant	NM_002282.3(KRT83):c.750+15A>G	Monilethrix [RCV000337099]\|not provided [RCV001612983]	benign	12	52317666	52317666	Human	2	name
597912111	CV3852814	single nucleotide variant	NM_002282.3(KRT83):c.1294+8T>A	not provided [RCV005187215]	likely benign	12	52315304	52315304	Human		name
150330864	CV1169533	single nucleotide variant	NM_002282.3(KRT83):c.1041+54G>A	not provided [RCV001536179]	benign	12	52316414	52316414	Human		name
150505644	CV1213577	single nucleotide variant	NM_002282.3(KRT83):c.1263-95A>G	not provided [RCV001595833]	benign	12	52315438	52315438	Human		name
150492441	CV1225474	single nucleotide variant	NM_002282.3(KRT83):c.1042-84G>T	not provided [RCV001618989]	benign	12	52316197	52316197	Human		name
150489050	CV1237580	single nucleotide variant	NM_002282.3(KRT83):c.751-106T>C	not provided [RCV001654429]	benign	12	52317129	52317129	Human		name
150480299	CV1239548	single nucleotide variant	NM_002282.3(KRT83):c.385-269A>T	not provided [RCV001652711]	benign	12	52319633	52319633	Human		name
150452351	CV1254952	single nucleotide variant	NM_002282.3(KRT83):c.593+127T>C	not provided [RCV001668011]	benign	12	52319029	52319029	Human		name
150497903	CV1256787	single nucleotide variant	NM_002282.3(KRT83):c.593+123C>T	not provided [RCV001676279]	benign	12	52319033	52319033	Human		name
150442870	CV1266302	single nucleotide variant	NM_002282.3(KRT83):c.750+249A>G	not provided [RCV001690738]	benign	12	52317432	52317432	Human		name
150494656	CV1267390	single nucleotide variant	NM_002282.3(KRT83):c.384+314C>T	not provided [RCV001688418]	benign	12	52320638	52320638	Human		name
150460825	CV1270570	single nucleotide variant	NM_002282.3(KRT83):c.1294+64A>G	not provided [RCV001693560]	benign	12	52315248	52315248	Human		name
150477690	CV1272083	single nucleotide variant	NM_002282.3(KRT83):c.593+194G>A	not provided [RCV001696369]	benign	12	52318962	52318962	Human		name
156108081	CV1953951	single nucleotide variant	NM_002282.3(KRT83):c.1294+10T>G	not provided [RCV002571095]	likely benign	12	52315302	52315302	Human		name
156416333	CV1976531	single nucleotide variant	NM_002282.3(KRT83):c.1041+13G>A	not provided [RCV002589641]	likely benign	12	52316455	52316455	Human		name
150493379	CV1225653	single nucleotide variant	NM_002282.3(KRT83):c.1042-140T>C	not provided [RCV001619169]	benign	12	52316253	52316253	Human		name
150489856	CV1239017	single nucleotide variant	NM_002282.3(KRT83):c.1294+118A>G	not provided [RCV001654585]	benign	12	52315194	52315194	Human		name
150509094	CV1244993	single nucleotide variant	NM_002282.3(KRT83):c.1262+248T>C	not provided [RCV001659244]	benign	12	52315645	52315645	Human		name
150461959	CV1264669	single nucleotide variant	NM_002282.3(KRT83):c.1041+150G>A	not provided [RCV001682293]	benign	12	52316318	52316318	Human		name
11612442	CV331857	deletion	NM_002282.3(KRT83):c.206_207del	Monilethrix [RCV000259475]	likely benign	12	52314424	52314425	Human	2	name
405227549	CV3069644	inversion	NM_002282.3(KRT83):c.1041+5_1041+6inv	not provided [RCV003734316]	uncertain significance	12	52316462	52316463	Human		name
126745643	CV1017645	deletion	NM_002282.3(KRT83):c.76del (p.Arg26fs)	Erythrokeratodermia variabilis et progressiva 5 [RCV001330706]	pathogenic	12	52321260	52321260	Human		name
151722364	CV1346399	single nucleotide variant	NM_002282.3(KRT83):c.26G>T (p.Gly9Val)	not provided [RCV001966161]	uncertain significance	12	52321310	52321310	Human		name
155920582	CV2102380	single nucleotide variant	NM_002282.3(KRT83):c.222C>T (p.Gly74=)	not provided [RCV002903336]	benign	12	52321114	52321114	Human		name
11604490	CV317774	single nucleotide variant	NM_002282.3(KRT83):c.183C>T (p.Ala61=)	Monilethrix [RCV000309878]	uncertain significance	12	52321153	52321153	Human	2	name
11611670	CV317779	single nucleotide variant	NM_002282.3(KRT83):c.147C>A (p.Gly49=)	Monilethrix [RCV000398096]	benign\|likely benign	12	52321189	52321189	Human	2	name
405266823	CV3211946	single nucleotide variant	NM_002282.3(KRT83):c.114C>T (p.Arg38=)	KRT83-related disorder [RCV003947214]	likely benign	12	52321222	52321222	Human		name , trait , alternate_id
405653416	CV3269528	single nucleotide variant	NM_002282.3(KRT83):c.24A>G (p.Ile8Met)	not specified [RCV004414592]	likely benign	12	52321312	52321312	Human		name
8627301	CV82445	single nucleotide variant	NM_002282.3(KRT83):c.204C>T (p.Phe68=)	Malignant melanoma [RCV000062524]	not provided	12	52321132	52321132	Human		name
156114067	CV2117455	single nucleotide variant	NM_002282.3(KRT83):c.894C>T (p.Ala298=)	not provided [RCV002953239]	likely benign	12	52316880	52316880	Human		name
329358812	CV2425390	single nucleotide variant	NM_002282.3(KRT83):c.38G>T (p.Arg13Leu)	not specified [RCV004251050]	uncertain significance	12	52321298	52321298	Human		name
329363065	CV2449725	single nucleotide variant	NM_002282.3(KRT83):c.82A>G (p.Ser28Gly)	not specified [RCV004268623]	likely benign	12	52321254	52321254	Human		name
401868217	CV2767173	single nucleotide variant	NM_002282.3(KRT83):c.98C>T (p.Thr33Ile)	not specified [RCV004347568]	uncertain significance	12	52321238	52321238	Human		name
401932153	CV2807021	single nucleotide variant	NM_002282.3(KRT83):c.300A>C (p.Ile100=)	not provided [RCV003391835]	likely benign	12	52321036	52321036	Human		name
402493774	CV2874252	single nucleotide variant	NM_002282.3(KRT83):c.73C>T (p.Pro25Ser)	not provided [RCV003545182]	uncertain significance	12	52321263	52321263	Human		name
405240445	CV3003550	single nucleotide variant	NM_002282.3(KRT83):c.756C>A (p.Ile252=)	not provided [RCV003719084]	likely benign	12	52317018	52317018	Human		name
405125636	CV3132713	single nucleotide variant	NM_002282.3(KRT83):c.86G>A (p.Arg29His)	not provided [RCV003837876]	uncertain significance	12	52321250	52321250	Human		name
11610300	CV317759	single nucleotide variant	NM_002282.3(KRT83):c.843C>T (p.Ala281=)	Monilethrix [RCV000379595]\|not provided [RCV001612981]	benign	12	52316931	52316931	Human	2	name
11609903	CV317769	single nucleotide variant	NM_002282.3(KRT83):c.480T>C (p.Phe160=)	Monilethrix [RCV000373993]\|not provided [RCV002520821]	benign\|likely benign	12	52319269	52319269	Human	2	name
11622636	CV325665	single nucleotide variant	NM_002282.3(KRT83):c.633C>T (p.Asn211=)	Monilethrix [RCV000362574]\|not provided [RCV002520819]	benign\|likely benign	12	52317931	52317931	Human	2	name
11616436	CV325673	single nucleotide variant	NM_002282.3(KRT83):c.312G>A (p.Ala104=)	Monilethrix [RCV000294514]\|not provided [RCV002522233]	benign\|likely benign	12	52321024	52321024	Human	2	name
405653418	CV3269529	single nucleotide variant	NM_002282.3(KRT83):c.32G>A (p.Gly11Glu)	not specified [RCV004414593]	uncertain significance	12	52321304	52321304	Human		name
11613587	CV331866	single nucleotide variant	NM_002282.3(KRT83):c.984C>T (p.Asn328=)	Monilethrix [RCV000269553]\|not provided [RCV001653518]	benign	12	52316525	52316525	Human	2	name
11619703	CV331867	single nucleotide variant	NM_002282.3(KRT83):c.957C>A (p.Thr319=)	KRT83-related disorder [RCV004730928]\|Monilethrix [RCV000328671]\|not provided [RCV002520816]	likely benign\|uncertain significance	12	52316552	52316552	Human	3	name , trait , alternate_id
11625080	CV331874	single nucleotide variant	NM_002282.3(KRT83):c.699C>T (p.Asn233=)	Monilethrix [RCV000394435]\|not provided [RCV003542294]	benign\|likely benign	12	52317732	52317732	Human	2	name
11652053	CV331903	single nucleotide variant	NM_002282.3(KRT83):c.83G>T (p.Ser28Ile)	Monilethrix [RCV000302482]	uncertain significance	12	52321253	52321253	Human	2	name
11625971	CV333391	single nucleotide variant	NM_002282.3(KRT83):c.768A>G (p.Gln256=)	Monilethrix [RCV000405032]\|not provided [RCV002522232]	benign\|likely benign	12	52317006	52317006	Human	2	name
11625079	CV333406	single nucleotide variant	NM_002282.3(KRT83):c.666C>T (p.Cys222=)	Monilethrix [RCV000394404]\|not provided [RCV002056307]	benign	12	52317765	52317765	Human	2	name
11622580	CV333426	single nucleotide variant	NM_002282.3(KRT83):c.67T>G (p.Cys23Gly)	Monilethrix [RCV000361847]\|not provided [RCV002522234]	benign\|likely benign	12	52321269	52321269	Human	2	name
407460071	CV3445671	single nucleotide variant	NM_002282.3(KRT83):c.88T>C (p.Cys30Arg)	not specified [RCV004633749]	uncertain significance	12	52321248	52321248	Human		name
598172704	CV3980593	single nucleotide variant	NM_002282.3(KRT83):c.70G>A (p.Gly24Arg)	not specified [RCV005370814]	uncertain significance	12	52321266	52321266	Human		name
598172719	CV3980598	single nucleotide variant	NM_002282.3(KRT83):c.61T>C (p.Ser21Pro)	not specified [RCV005370816]	uncertain significance	12	52321275	52321275	Human		name
8622424	CV77443	single nucleotide variant	NM_002282.3(KRT83):c.558C>T (p.Asn186=)	Monilethrix [RCV000268180]\|not provided [RCV000056955]	benign\|not provided	12	52319191	52319191	Human	2	name
28873051	CV870093	single nucleotide variant	NM_002282.3(KRT83):c.945G>A (p.Arg315=)	KRT83-related disorder [RCV003973082]\|Monilethrix [RCV001114821]\|not provided [RCV005093521]	benign\|likely benign	12	52316564	52316564	Human	3	name , trait , alternate_id
28873287	CV870098	single nucleotide variant	NM_002282.3(KRT83):c.363A>G (p.Arg121=)	Monilethrix [RCV001114927]\|not provided [RCV005093522]	benign	12	52320973	52320973	Human	2	name
152079176	CV1579815	single nucleotide variant	NM_002282.3(KRT83):c.1104T>C (p.Asp368=)	not provided [RCV002076140]	likely benign	12	52316051	52316051	Human		name
155947316	CV1921690	single nucleotide variant	NM_002282.3(KRT83):c.118A>G (p.Ile40Val)	not provided [RCV002616019]	uncertain significance	12	52321218	52321218	Human		name
156014140	CV2121274	single nucleotide variant	NM_002282.3(KRT83):c.1350C>T (p.Ser450=)	not provided [RCV002948441]	likely benign	12	52314763	52314763	Human		name
156187623	CV2346736	single nucleotide variant	NM_002282.3(KRT83):c.238C>G (p.Pro80Ala)	not specified [RCV004199752]	uncertain significance	12	52321098	52321098	Human		name
156151255	CV2369140	single nucleotide variant	NM_002282.3(KRT83):c.239C>T (p.Pro80Leu)	not provided [RCV003561154]\|not specified [RCV004208065]	uncertain significance	12	52321097	52321097	Human		name
155929455	CV2389167	single nucleotide variant	NM_002282.3(KRT83):c.268G>A (p.Glu90Lys)	not specified [RCV004235494]	uncertain significance	12	52321068	52321068	Human		name
401879626	CV2755121	single nucleotide variant	NM_002282.3(KRT83):c.242C>A (p.Pro81Gln)	not specified [RCV004335271]	uncertain significance	12	52321094	52321094	Human		name
401889681	CV2766827	single nucleotide variant	NM_002282.3(KRT83):c.161G>C (p.Ser54Thr)	not specified [RCV004349212]	uncertain significance	12	52321175	52321175	Human		name
401862316	CV2775221	single nucleotide variant	NM_002282.3(KRT83):c.118A>C (p.Ile40Leu)	not specified [RCV004348353]	uncertain significance	12	52321218	52321218	Human		name
405233160	CV2906673	single nucleotide variant	NM_002282.3(KRT83):c.119T>A (p.Ile40Asn)	not provided [RCV003555841]	benign	12	52321217	52321217	Human		name
405223048	CV3061166	single nucleotide variant	NM_002282.3(KRT83):c.173G>A (p.Gly58Asp)	not provided [RCV003733606]\|not specified [RCV004374178]	uncertain significance	12	52321163	52321163	Human		name
405227398	CV3142887	single nucleotide variant	NM_002282.3(KRT83):c.239C>G (p.Pro80Arg)	not provided [RCV003848230]	uncertain significance	12	52321097	52321097	Human		name
11603238	CV317739	single nucleotide variant	NM_002282.3(KRT83):c.1059T>C (p.Ala353=)	Monilethrix [RCV000297929]\|not provided [RCV001660616]	benign	12	52316096	52316096	Human	2	name
11606553	CV317751	single nucleotide variant	NM_002282.3(KRT83):c.1017C>T (p.Ala339=)	Monilethrix [RCV000332704]\|not provided [RCV003546511]	benign\|likely benign	12	52316492	52316492	Human	2	name
405286855	CV3192989	single nucleotide variant	NM_002282.3(KRT83):c.1380C>T (p.Ala460=)	KRT83-related disorder [RCV003981670]	likely benign	12	52314733	52314733	Human		name , trait , alternate_id
405294843	CV3209227	single nucleotide variant	NM_002282.3(KRT83):c.1362G>A (p.Thr454=)	KRT83-related disorder [RCV003934758]	likely benign	12	52314751	52314751	Human		name , trait , alternate_id
11620820	CV325615	single nucleotide variant	NM_002282.3(KRT83):c.1338C>T (p.Cys446=)	Monilethrix [RCV000341169]\|not provided [RCV003391106]	benign\|likely benign	12	52314775	52314775	Human	2	name
11625886	CV325618	single nucleotide variant	NM_002282.3(KRT83):c.1332T>C (p.Asp444=)	Monilethrix [RCV000404121]\|not provided [RCV001675794]	benign	12	52314781	52314781	Human	2	name
11622175	CV325645	single nucleotide variant	NM_002282.3(KRT83):c.1056A>G (p.Glu352=)	Monilethrix [RCV000357062]\|not provided [RCV001683244]	benign	12	52316099	52316099	Human	2	name
11625395	CV325680	single nucleotide variant	NM_002282.3(KRT83):c.184G>A (p.Gly62Ser)	Monilethrix [RCV000398083]	uncertain significance	12	52321152	52321152	Human	2	name
11622875	CV325681	single nucleotide variant	NM_002282.3(KRT83):c.173G>C (p.Gly58Ala)	Monilethrix [RCV000365424]	uncertain significance	12	52321163	52321163	Human	2	name
11616003	CV333364	single nucleotide variant	NM_002282.3(KRT83):c.1398G>A (p.Leu466=)	Monilethrix [RCV000290832]	uncertain significance	12	52314715	52314715	Human	2	name
11624177	CV333368	single nucleotide variant	NM_002282.3(KRT83):c.1014A>G (p.Thr338=)	Monilethrix [RCV000382653]	uncertain significance	12	52316495	52316495	Human	2	name
597624710	CV3695751	single nucleotide variant	NM_002282.3(KRT83):c.170G>C (p.Gly57Ala)	not specified [RCV004937731]	uncertain significance	12	52321166	52321166	Human		name
597795043	CV3695752	single nucleotide variant	NM_002282.3(KRT83):c.223G>C (p.Val75Leu)	not specified [RCV004934715]	uncertain significance	12	52321113	52321113	Human		name
597956318	CV3754606	single nucleotide variant	NM_002282.3(KRT83):c.113G>A (p.Arg38His)	not provided [RCV005080456]	uncertain significance	12	52321223	52321223	Human		name
598244609	CV3895777	deletion	NM_002282.3(KRT83):c.772del (p.His258fs)	Monilethrix [RCV005365696]	uncertain significance	12	52317002	52317002	Human	2	name
13463036	CV439459	deletion	NM_002282.3(KRT83):c.811del (p.Ser271fs)	Erythrokeratodermia variabilis et progressiva 5 [RCV000515128]	pathogenic\|likely pathogenic	12	52316963	52316963	Human	1	name
28910330	CV870089	single nucleotide variant	NM_002282.3(KRT83):c.1425C>T (p.Pro475=)	Monilethrix [RCV001109081]	uncertain significance	12	52314688	52314688	Human	2	name
28911968	CV870090	single nucleotide variant	NM_002282.3(KRT83):c.1356G>A (p.Pro452=)	Monilethrix [RCV001111419]	uncertain significance	12	52314757	52314757	Human	2	name
28873290	CV870099	single nucleotide variant	NM_002282.3(KRT83):c.260C>T (p.Ser87Leu)	Monilethrix [RCV001114928]	uncertain significance	12	52321076	52321076	Human	2	name
28873292	CV870100	single nucleotide variant	NM_002282.3(KRT83):c.192C>A (p.Cys64Ter)	Monilethrix [RCV001114929]	benign	12	52321144	52321144	Human	2	name
156122315	CV1933474	single nucleotide variant	NM_002282.3(KRT83):c.388C>T (p.Arg130Cys)	not provided [RCV002640369]	uncertain significance	12	52319361	52319361	Human		name
156133708	CV1977165	single nucleotide variant	NM_002282.3(KRT83):c.908G>A (p.Arg303His)	not provided [RCV002593587]	uncertain significance	12	52316866	52316866	Human		name
156284205	CV2061560	single nucleotide variant	NM_002282.3(KRT83):c.892G>A (p.Ala298Thr)	not provided [RCV002832947]	uncertain significance	12	52316882	52316882	Human		name
156109989	CV2121102	single nucleotide variant	NM_002282.3(KRT83):c.520G>A (p.Val174Met)	not provided [RCV002953071]	likely benign	12	52319229	52319229	Human		name
156038013	CV2143303	single nucleotide variant	NM_002282.3(KRT83):c.716A>G (p.Gln239Arg)	not provided [RCV002999408]	likely benign	12	52317715	52317715	Human		name
156090727	CV2299995	single nucleotide variant	NM_002282.3(KRT83):c.985G>A (p.Glu329Lys)	not specified [RCV004151209]	uncertain significance	12	52316524	52316524	Human		name
156177370	CV2331237	single nucleotide variant	NM_002282.3(KRT83):c.505C>T (p.Arg169Trp)	not specified [RCV004181840]	uncertain significance	12	52319244	52319244	Human		name
156308792	CV2341700	single nucleotide variant	NM_002282.3(KRT83):c.352C>T (p.Leu118Phe)	not specified [RCV004182619]	uncertain significance	12	52320984	52320984	Human		name
156229579	CV2352996	single nucleotide variant	NM_002282.3(KRT83):c.925A>G (p.Met309Val)	not specified [RCV004201027]	uncertain significance	12	52316584	52316584	Human		name
156155862	CV2359770	single nucleotide variant	NM_002282.3(KRT83):c.878G>A (p.Arg293His)	not provided [RCV003720722]\|not specified [RCV004210585]	uncertain significance	12	52316896	52316896	Human		name
156402088	CV2367965	single nucleotide variant	NM_002282.3(KRT83):c.999G>A (p.Met333Ile)	not specified [RCV004223056]	uncertain significance	12	52316510	52316510	Human		name
155955666	CV2387143	single nucleotide variant	NM_002282.3(KRT83):c.508G>A (p.Glu170Lys)	not specified [RCV004238252]	uncertain significance	12	52319241	52319241	Human		name
243058306	CV2405899	single nucleotide variant	NM_002282.3(KRT83):c.844G>C (p.Glu282Gln)	not provided [RCV003133963]	uncertain significance	12	52316930	52316930	Human		name
329374744	CV2440006	single nucleotide variant	NM_002282.3(KRT83):c.319G>A (p.Val107Met)	not specified [RCV004260483]	uncertain significance	12	52321017	52321017	Human		name
329374325	CV2443841	single nucleotide variant	NM_002282.3(KRT83):c.657T>G (p.Asp219Glu)	not specified [RCV004258181]	likely benign	12	52317774	52317774	Human		name
329402461	CV2454282	single nucleotide variant	NM_002282.3(KRT83):c.571G>T (p.Val191Leu)	not specified [RCV004265751]	uncertain significance	12	52319178	52319178	Human		name
401782408	CV2686811	single nucleotide variant	NM_002282.3(KRT83):c.737G>A (p.Arg246Gln)	not specified [RCV004301991]	uncertain significance	12	52317694	52317694	Human		name
401894149	CV2770354	single nucleotide variant	NM_002282.3(KRT83):c.493G>A (p.Glu165Lys)	not specified [RCV004358006]	uncertain significance	12	52319256	52319256	Human		name
401895769	CV2778761	single nucleotide variant	NM_002282.3(KRT83):c.874A>G (p.Thr292Ala)	not specified [RCV004346666]	uncertain significance	12	52316900	52316900	Human		name
405137797	CV3019513	single nucleotide variant	NM_002282.3(KRT83):c.844G>A (p.Glu282Lys)	not provided [RCV003702247]	likely benign	12	52316930	52316930	Human		name
405177780	CV3049506	single nucleotide variant	NM_002282.3(KRT83):c.962G>A (p.Arg321His)	not provided [RCV003728424]\|not specified [RCV004374109]	uncertain significance	12	52316547	52316547	Human		name
11648819	CV317752	single nucleotide variant	NM_002282.3(KRT83):c.891G>C (p.Glu297Asp)	Monilethrix [RCV000284037]	uncertain significance	12	52316883	52316883	Human	2	name
11606788	CV317761	single nucleotide variant	NM_002282.3(KRT83):c.815G>A (p.Arg272Gln)	Monilethrix [RCV000335572]\|not provided [RCV005055862]	uncertain significance	12	52316959	52316959	Human	2	name
11602775	CV317770	single nucleotide variant	NM_002282.3(KRT83):c.452G>A (p.Cys151Tyr)	Monilethrix [RCV000293587]\|not provided [RCV005090447]	benign\|uncertain significance	12	52319297	52319297	Human	2	name
11607877	CV317773	single nucleotide variant	NM_002282.3(KRT83):c.445C>T (p.Arg149Cys)	KRT83-related disorder [RCV003983010]\|Monilethrix [RCV000348373]\|not provided [RCV001537044]	benign	12	52319304	52319304	Human	3	name , trait , alternate_id
402490627	CV3182417	single nucleotide variant	NM_002282.3(KRT83):c.812G>A (p.Ser271Asn)	not provided [RCV003876903]	uncertain significance	12	52316962	52316962	Human		name
11615056	CV325660	single nucleotide variant	NM_002282.3(KRT83):c.760A>G (p.Ile254Val)	Monilethrix [RCV000282022]\|Monilethrix [RCV002502214]\|not provided [RCV002520818]	benign\|likely benign	12	52317014	52317014	Human	2	name
11623294	CV325663	single nucleotide variant	NM_002282.3(KRT83):c.667G>A (p.Ala223Thr)	Monilethrix [RCV000370810]	likely benign	12	52317764	52317764	Human	2	name
11617814	CV325664	single nucleotide variant	NM_002282.3(KRT83):c.666C>A (p.Cys222Ter)	KRT83-related disorder [RCV003930313]\|Monilethrix [RCV000307853]\|not provided [RCV000425816]	benign\|likely benign	12	52317765	52317765	Human	3	name , trait , alternate_id
11619259	CV325672	single nucleotide variant	NM_002282.3(KRT83):c.514G>A (p.Glu172Lys)	Monilethrix [RCV000323297]\|not specified [RCV004935133]	likely benign\|uncertain significance	12	52319235	52319235	Human	2	name
11621139	CV325677	single nucleotide variant	NM_002282.3(KRT83):c.310G>A (p.Ala104Thr)	Monilethrix [RCV000344748]	likely benign\|uncertain significance	12	52321026	52321026	Human	2	name
405653424	CV3269531	single nucleotide variant	NM_002282.3(KRT83):c.758G>A (p.Arg253His)	not specified [RCV004414595]	uncertain significance	12	52317016	52317016	Human		name
405653426	CV3269532	single nucleotide variant	NM_002282.3(KRT83):c.814C>T (p.Arg272Trp)	not specified [RCV004414596]	uncertain significance	12	52316960	52316960	Human		name
11615390	CV331869	single nucleotide variant	NM_002282.3(KRT83):c.837C>G (p.Ile279Met)	Monilethrix [RCV000285091]\|not provided [RCV001612982]	benign	12	52316937	52316937	Human	2	name
11618173	CV331881	single nucleotide variant	NM_002282.3(KRT83):c.676C>T (p.Arg226Cys)	Monilethrix [RCV000311225]	benign\|likely benign	12	52317755	52317755	Human	2	name
11619163	CV331883	single nucleotide variant	NM_002282.3(KRT83):c.601G>T (p.Glu201Ter)	Monilethrix [RCV000322012]\|not provided [RCV002056308]\|not specified [RCV000732729]	benign\|likely benign	12	52317963	52317963	Human	2	name
11623494	CV331886	single nucleotide variant	NM_002282.3(KRT83):c.502C>T (p.Arg168Trp)	Monilethrix [RCV000373335]\|not specified [RCV005365243]	uncertain significance	12	52319247	52319247	Human	2	name
11618915	CV331892	single nucleotide variant	NM_002282.3(KRT83):c.485G>T (p.Gly162Val)	Monilethrix [RCV000319382]	uncertain significance	12	52319264	52319264	Human	2	name
11624201	CV333373	single nucleotide variant	NM_002282.3(KRT83):c.910A>T (p.Ser304Cys)	Monilethrix [RCV000383206]\|not specified [RCV005348105]	benign\|uncertain significance	12	52316864	52316864	Human	2	name
11620639	CV333383	single nucleotide variant	NM_002282.3(KRT83):c.877C>T (p.Arg293Cys)	Monilethrix [RCV000339136]\|not specified [RCV004021547]	benign\|uncertain significance	12	52316897	52316897	Human	2	name
11614623	CV333422	single nucleotide variant	NM_002282.3(KRT83):c.497C>G (p.Thr166Ser)	Monilethrix [RCV000278352]	benign\|likely benign	12	52319252	52319252	Human	2	name
407500441	CV3445666	single nucleotide variant	NM_002282.3(KRT83):c.421A>T (p.Thr141Ser)	not specified [RCV004644603]	uncertain significance	12	52319328	52319328	Human		name
407480001	CV3445668	single nucleotide variant	NM_002282.3(KRT83):c.698A>G (p.Asn233Ser)	not specified [RCV004639615]	uncertain significance	12	52317733	52317733	Human		name
597624705	CV3695744	single nucleotide variant	NM_002282.3(KRT83):c.964C>T (p.Arg322Cys)	not specified [RCV004937726]	uncertain significance	12	52316545	52316545	Human		name
597624708	CV3695748	single nucleotide variant	NM_002282.3(KRT83):c.503G>A (p.Arg168Gln)	not specified [RCV004937729]	uncertain significance	12	52319246	52319246	Human		name
597795040	CV3695749	single nucleotide variant	NM_002282.3(KRT83):c.803T>C (p.Leu268Pro)	not specified [RCV004934714]	uncertain significance	12	52316971	52316971	Human		name
597624709	CV3695750	single nucleotide variant	NM_002282.3(KRT83):c.531C>G (p.Asp177Glu)	not specified [RCV004937730]	uncertain significance	12	52319218	52319218	Human		name
597876758	CV3747900	single nucleotide variant	NM_002282.3(KRT83):c.846G>C (p.Glu282Asp)	not provided [RCV005069392]	uncertain significance	12	52316928	52316928	Human		name
597891948	CV3750089	single nucleotide variant	NM_002282.3(KRT83):c.801G>T (p.Lys267Asn)	not provided [RCV005071250]	uncertain significance	12	52316973	52316973	Human		name
598172712	CV3980595	single nucleotide variant	NM_002282.3(KRT83):c.440A>G (p.Gln147Arg)	not specified [RCV005370815]	uncertain significance	12	52319309	52319309	Human		name
598200340	CV4007432	deletion	NM_002282.3(KRT83):c.72_78del (p.Pro25fs)	Erythrokeratodermia variabilis et progressiva 5 [RCV005398262]	uncertain significance	12	52321258	52321264	Human	1	name
12906704	CV415350	single nucleotide variant	NM_002282.3(KRT83):c.745G>C (p.Glu249Gln)	not provided [RCV000489546]\|not specified [RCV004023258]	uncertain significance	12	52317686	52317686	Human		name
28894559	CV859991	single nucleotide variant	NM_002282.3(KRT83):c.379G>A (p.Asp127Asn)	not provided [RCV001092483]	uncertain significance	12	52320957	52320957	Human		name
28910444	CV870094	single nucleotide variant	NM_002282.3(KRT83):c.828G>A (p.Met276Ile)	Monilethrix [RCV001109178]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	52316946	52316946	Human	2	name
28910446	CV870095	single nucleotide variant	NM_002282.3(KRT83):c.790G>A (p.Val264Met)	Monilethrix [RCV001109179]\|not provided [RCV003688901]\|not specified [RCV004032142]	benign\|uncertain significance	12	52316984	52316984	Human	2	name
28870323	CV870096	single nucleotide variant	NM_002282.3(KRT83):c.520G>C (p.Val174Leu)	Monilethrix [RCV001113503]	benign	12	52319229	52319229	Human	2	name
28873284	CV870097	single nucleotide variant	NM_002282.3(KRT83):c.389G>A (p.Arg130His)	Monilethrix [RCV001114926]\|not specified [RCV004032189]	benign\|uncertain significance	12	52319360	52319360	Human	2	name
10045093	CV188845	single nucleotide variant	NM_002282.3(KRT83):c.1244T>G (p.Leu415Arg)	not provided [RCV000171215]	likely pathogenic	12	52315911	52315911	Human		name
156070406	CV2051075	single nucleotide variant	NM_002282.3(KRT83):c.1442C>A (p.Thr481Asn)	not provided [RCV002797387]	uncertain significance	12	52314671	52314671	Human		name
156197499	CV2083183	single nucleotide variant	NM_002282.3(KRT83):c.1228A>G (p.Thr410Ala)	not provided [RCV002852345]	uncertain significance	12	52315927	52315927	Human		name
8597275	CV21876	single nucleotide variant	NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)	MONILETHRIX 3 [RCV005252102]\|Monilethrix [RCV000007239]\|not provided [RCV000056954]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	12	52315936	52315936	Human	3	name
156229395	CV2234971	single nucleotide variant	NM_002282.3(KRT83):c.1237C>T (p.Arg413Cys)	not specified [RCV004113168]	uncertain significance	12	52315918	52315918	Human		name
156319720	CV2260878	single nucleotide variant	NM_002282.3(KRT83):c.1208G>T (p.Gly403Val)	not specified [RCV004125775]	uncertain significance	12	52315947	52315947	Human		name
156021991	CV2264519	single nucleotide variant	NM_002282.3(KRT83):c.1225G>A (p.Ala409Thr)	not specified [RCV004138402]	uncertain significance	12	52315930	52315930	Human		name
156189044	CV2356562	single nucleotide variant	NM_002282.3(KRT83):c.1339G>A (p.Val447Met)	not specified [RCV004201932]	uncertain significance	12	52314774	52314774	Human		name
155939025	CV2376491	single nucleotide variant	NM_002282.3(KRT83):c.1135G>C (p.Ala379Pro)	not specified [RCV004220663]	uncertain significance	12	52316020	52316020	Human		name
155905953	CV2393835	single nucleotide variant	NM_002282.3(KRT83):c.1460C>T (p.Ser487Phe)	not specified [RCV004233663]	uncertain significance	12	52314653	52314653	Human		name
329392098	CV2470372	single nucleotide variant	NM_002282.3(KRT83):c.1465G>A (p.Gly489Ser)	not specified [RCV004279754]	likely benign	12	52314648	52314648	Human		name
401776353	CV2692682	single nucleotide variant	NM_002282.3(KRT83):c.1263G>T (p.Arg421Ser)	not specified [RCV004312401]	uncertain significance	12	52315343	52315343	Human		name
401861840	CV2766428	single nucleotide variant	NM_002282.3(KRT83):c.1378G>C (p.Ala460Pro)	not specified [RCV004345271]	uncertain significance	12	52314735	52314735	Human		name
401866788	CV2783213	single nucleotide variant	NM_002282.3(KRT83):c.1163C>T (p.Ala388Val)	not specified [RCV004363552]	uncertain significance	12	52315992	52315992	Human		name
405075415	CV2873110	single nucleotide variant	NM_002282.3(KRT83):c.1369G>A (p.Val457Ile)	not provided [RCV003548712]	likely benign	12	52314744	52314744	Human		name
405267232	CV3218777	single nucleotide variant	NM_002282.3(KRT83):c.1060G>A (p.Ala354Thr)	KRT83-related disorder [RCV003947320]	benign	12	52316095	52316095	Human		name , trait , alternate_id
11624393	CV325607	single nucleotide variant	NM_002282.3(KRT83):c.1412G>A (p.Gly471Asp)	KRT83-related disorder [RCV003977903]\|Monilethrix [RCV000385165]\|not provided [RCV002520813]	benign	12	52314701	52314701	Human	3	name , trait , alternate_id
11617599	CV325628	single nucleotide variant	NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser)	KRT83-related disorder [RCV003920283]\|Monilethrix [RCV000306214]\|not provided [RCV002522230]	benign\|likely benign	12	52315338	52315338	Human	3	name , trait , alternate_id
11614510	CV325658	single nucleotide variant	NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys)	Monilethrix [RCV000277622]\|not specified [RCV004021546]	likely benign\|uncertain significance	12	52316491	52316491	Human	2	name
405653406	CV3269523	single nucleotide variant	NM_002282.3(KRT83):c.1123G>A (p.Glu375Lys)	not specified [RCV004414587]	uncertain significance	12	52316032	52316032	Human		name
405653408	CV3269524	single nucleotide variant	NM_002282.3(KRT83):c.1361C>T (p.Thr454Met)	Erythrokeratodermia variabilis et progressiva 5 [RCV005392782]\|not specified [RCV004414588]	uncertain significance	12	52314752	52314752	Human	1	name
405653412	CV3269526	single nucleotide variant	NM_002282.3(KRT83):c.1390G>A (p.Gly464Arg)	not specified [RCV004414590]	uncertain significance	12	52314723	52314723	Human		name
405653414	CV3269527	single nucleotide variant	NM_002282.3(KRT83):c.1418G>A (p.Cys473Tyr)	not specified [RCV004414591]	uncertain significance	12	52314695	52314695	Human		name
11625172	CV331860	single nucleotide variant	NM_002282.3(KRT83):c.1084G>A (p.Gly362Ser)	Monilethrix [RCV000395624]\|not provided [RCV002520814]	benign\|likely benign	12	52316071	52316071	Human	2	name
11616461	CV333362	single nucleotide variant	NM_002282.3(KRT83):c.1477C>T (p.His493Tyr)	Monilethrix [RCV000294606]\|not provided [RCV001675793]	benign	12	52314636	52314636	Human	2	name
11621115	CV333363	single nucleotide variant	NM_002282.3(KRT83):c.1423C>T (p.Pro475Ser)	Monilethrix [RCV000344825]\|not provided [RCV003546510]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	52314690	52314690	Human	2	name
11620889	CV333366	single nucleotide variant	NM_002282.3(KRT83):c.1100G>A (p.Ser367Asn)	Monilethrix [RCV000342350]\|not specified [RCV004935132]	benign\|likely benign	12	52316055	52316055	Human	2	name
407460063	CV3445667	single nucleotide variant	NM_002282.3(KRT83):c.1337G>A (p.Cys446Tyr)	not specified [RCV004633747]	uncertain significance	12	52314776	52314776	Human		name
407460067	CV3445669	single nucleotide variant	NM_002282.3(KRT83):c.1310G>A (p.Arg437Gln)	not specified [RCV004633748]	uncertain significance	12	52314803	52314803	Human		name
407480007	CV3445670	single nucleotide variant	NM_002282.3(KRT83):c.1469A>C (p.Gln490Pro)	not specified [RCV004639616]	uncertain significance	12	52314644	52314644	Human		name
597624707	CV3695747	single nucleotide variant	NM_002282.3(KRT83):c.1101T>G (p.Ser367Arg)	not specified [RCV004937728]	uncertain significance	12	52316054	52316054	Human		name
597850276	CV3788149	single nucleotide variant	NM_002282.3(KRT83):c.1162G>T (p.Ala388Ser)	not provided [RCV005125507]	uncertain significance	12	52315993	52315993	Human		name
598195978	CV3980594	single nucleotide variant	NM_002282.3(KRT83):c.1213G>A (p.Asp405Asn)	not specified [RCV005355098]	uncertain significance	12	52315942	52315942	Human		name
598195985	CV3980597	single nucleotide variant	NM_002282.3(KRT83):c.1405A>G (p.Ser469Gly)	not specified [RCV005355100]	uncertain significance	12	52314708	52314708	Human		name
598200333	CV4007431	single nucleotide variant	NM_002282.3(KRT83):c.1167C>A (p.Cys389Ter)	Erythrokeratodermia variabilis et progressiva 5 [RCV005398261]	uncertain significance	12	52315988	52315988	Human	1	name
13463037	CV439458	single nucleotide variant	NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys)	MONILETHRIX 3 [RCV005252106]	pathogenic	12	52315903	52315903	Human	1	name
28911969	CV870091	single nucleotide variant	NM_002282.3(KRT83):c.1327G>A (p.Gly443Arg)	Monilethrix [RCV001111420]\|not provided [RCV003565453]	benign\|likely benign	12	52314786	52314786	Human	2	name
28911970	CV870092	single nucleotide variant	NM_002282.3(KRT83):c.1302C>A (p.Ser434Arg)	Monilethrix [RCV001111421]	likely benign	12	52314811	52314811	Human	2	name
11625805	CV331900	microsatellite	NM_002282.3(KRT83):c.328GAG[1] (p.Glu111del)	Monilethrix [RCV000403423]	likely benign	12	52321003	52321005	Human		name
11613819	CV333411	microsatellite	NM_002282.3(KRT83):c.599AAG[2] (p.Glu202del)	Monilethrix [RCV000271652]\|not provided [RCV002520820]	benign\|likely benign	12	52317957	52317959	Human		name
150459995	CV1236178	insertion	NM_002282.3(KRT83):c.1295-129_1295-128insCCACA	not provided [RCV001649149]	benign	12	52314946	52314947	Human		name
405086881	CV3167329	indel	NM_002282.3(KRT83):c.81_82delinsCG (p.Ser28Gly)	not provided [RCV003851910]	uncertain significance	12	52321254	52321255	Human		name

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