Osm Variant Search Result - Rat Genome Database

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166 records found for search term Osm

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156168454	CV2299426	single nucleotide variant	NM_020530.6(OSM):c.7G>A (p.Val3Ile)	not specified [RCV004154510]	uncertain significance	22	30266793	30266793	Human		name
401738446	CV2721878	single nucleotide variant	NM_020530.6(OSM):c.21G>T (p.Gln7His)	not specified [RCV004326387]	uncertain significance	22	30266779	30266779	Human		name
156232126	CV2273651	single nucleotide variant	NM_020530.6(OSM):c.74T>C (p.Met25Thr)	not specified [RCV004132317]	uncertain significance	22	30265105	30265105	Human		name
156094001	CV2300267	single nucleotide variant	NM_020530.6(OSM):c.72C>A (p.Ser24Arg)	not specified [RCV004153227]	uncertain significance	22	30265107	30265107	Human		name
405784382	CV3374322	single nucleotide variant	NM_020530.6(OSM):c.85G>A (p.Gly29Ser)	not specified [RCV004504535]	uncertain significance	22	30265094	30265094	Human		name
598162099	CV3999072	single nucleotide variant	NM_020530.6(OSM):c.68C>T (p.Ala23Val)	not specified [RCV005390750]	uncertain significance	22	30265111	30265111	Human		name
598162108	CV3999074	single nucleotide variant	NM_020530.6(OSM):c.77C>T (p.Ala26Val)	not specified [RCV005390752]	uncertain significance	22	30265102	30265102	Human		name
156299918	CV2244823	single nucleotide variant	NM_020530.6(OSM):c.256A>G (p.Thr86Ala)	not specified [RCV004104586]	likely benign	22	30264386	30264386	Human		name
156310077	CV2249722	single nucleotide variant	NM_020530.6(OSM):c.107G>A (p.Arg36His)	not specified [RCV004122493]	likely benign	22	30265072	30265072	Human		name
155993844	CV2379467	single nucleotide variant	NM_020530.6(OSM):c.235G>A (p.Gly79Arg)	not specified [RCV004217186]	uncertain significance	22	30264407	30264407	Human		name
401866777	CV2772762	single nucleotide variant	NM_020530.6(OSM):c.166C>G (p.Leu56Val)	not specified [RCV004357562]	uncertain significance	22	30265013	30265013	Human		name
401892044	CV2777188	single nucleotide variant	NM_020530.6(OSM):c.269T>C (p.Leu90Pro)	not specified [RCV004354227]	uncertain significance	22	30264373	30264373	Human		name
405784330	CV3374313	single nucleotide variant	NM_020530.6(OSM):c.101A>T (p.Glu34Val)	not specified [RCV004504526]	uncertain significance	22	30265078	30265078	Human		name
405784336	CV3374314	single nucleotide variant	NM_020530.6(OSM):c.104A>G (p.Tyr35Cys)	not specified [RCV004504527]	uncertain significance	22	30265075	30265075	Human		name
405784342	CV3374315	single nucleotide variant	NM_020530.6(OSM):c.214G>C (p.Glu72Gln)	not specified [RCV004504528]	uncertain significance	22	30264428	30264428	Human		name
597736187	CV3567781	single nucleotide variant	NM_020530.6(OSM):c.229C>T (p.Arg77Cys)	not specified [RCV004843689]	uncertain significance	22	30264413	30264413	Human		name
8628663	CV83807	single nucleotide variant	NM_020530.4(OSM):c.214G>A (p.Glu72Lys)	Malignant melanoma [RCV000063888]	not provided	22	30264428	30264428	Human		name
156150416	CV2197705	single nucleotide variant	NM_020530.6(OSM):c.514G>A (p.Ala172Thr)	not specified [RCV004074911]	likely benign	22	30264128	30264128	Human		name
156059895	CV2239382	single nucleotide variant	NM_020530.6(OSM):c.691G>A (p.Gly231Arg)	not specified [RCV004114116]	uncertain significance	22	30263951	30263951	Human		name
155931764	CV2293689	single nucleotide variant	NM_020530.6(OSM):c.334G>A (p.Asp112Asn)	not specified [RCV004153190]	uncertain significance	22	30264308	30264308	Human		name
156289134	CV2333068	single nucleotide variant	NM_020530.6(OSM):c.694G>A (p.Val232Met)	not specified [RCV004194363]	uncertain significance	22	30263948	30263948	Human		name
156198515	CV2334581	single nucleotide variant	NM_020530.6(OSM):c.380G>A (p.Gly127Glu)	not specified [RCV004181681]	uncertain significance	22	30264262	30264262	Human		name
156333698	CV2336034	single nucleotide variant	NM_020530.6(OSM):c.422C>T (p.Pro141Leu)	not specified [RCV004189639]	uncertain significance	22	30264220	30264220	Human		name
156189540	CV2356624	single nucleotide variant	NM_020530.6(OSM):c.485C>T (p.Thr162Met)	not specified [RCV004201988]	likely benign	22	30264157	30264157	Human		name
156153502	CV2374851	single nucleotide variant	NM_020530.6(OSM):c.619C>T (p.Arg207Trp)	not specified [RCV004227882]	uncertain significance	22	30264023	30264023	Human		name
329391274	CV2452202	single nucleotide variant	NM_020530.6(OSM):c.506G>T (p.Gly169Val)	not specified [RCV004278905]	uncertain significance	22	30264136	30264136	Human		name
401725121	CV2697282	single nucleotide variant	NM_020530.6(OSM):c.436C>T (p.Leu146Phe)	not specified [RCV004304043]	likely benign	22	30264206	30264206	Human		name
401742834	CV2697876	single nucleotide variant	NM_020530.6(OSM):c.391G>A (p.Glu131Lys)	not specified [RCV004300588]	uncertain significance	22	30264251	30264251	Human		name
401875062	CV2756203	single nucleotide variant	NM_020530.6(OSM):c.736A>C (p.Thr246Pro)	not specified [RCV004338305]	likely benign	22	30263906	30263906	Human		name
401883871	CV2764223	single nucleotide variant	NM_020530.6(OSM):c.697C>T (p.Arg233Cys)	not specified [RCV004336764]	uncertain significance	22	30263945	30263945	Human		name
401864096	CV2767467	single nucleotide variant	NM_020530.6(OSM):c.604A>G (p.Met202Val)	not specified [RCV004343631]	uncertain significance	22	30264038	30264038	Human		name
401861005	CV2772329	single nucleotide variant	NM_020530.6(OSM):c.359C>T (p.Ala120Val)	not specified [RCV004353341]	uncertain significance	22	30264283	30264283	Human		name
405784347	CV3374316	single nucleotide variant	NM_020530.6(OSM):c.302C>A (p.Ala101Asp)	not specified [RCV004504529]	uncertain significance	22	30264340	30264340	Human		name
405784353	CV3374317	single nucleotide variant	NM_020530.6(OSM):c.422C>G (p.Pro141Arg)	not specified [RCV004504530]	uncertain significance	22	30264220	30264220	Human		name
405784359	CV3374318	single nucleotide variant	NM_020530.6(OSM):c.478T>G (p.Ser160Ala)	not specified [RCV004504531]	uncertain significance	22	30264164	30264164	Human		name
405784371	CV3374320	single nucleotide variant	NM_020530.6(OSM):c.509G>A (p.Arg170Gln)	not specified [RCV004504533]	uncertain significance	22	30264133	30264133	Human		name
405784376	CV3374321	single nucleotide variant	NM_020530.6(OSM):c.524C>A (p.Pro175Gln)	not specified [RCV004504534]	uncertain significance	22	30264118	30264118	Human		name
407511392	CV3459711	single nucleotide variant	NM_020530.6(OSM):c.559C>T (p.Arg187Cys)	not specified [RCV004648034]	uncertain significance	22	30264083	30264083	Human		name
407511395	CV3459712	single nucleotide variant	NM_020530.6(OSM):c.479C>T (p.Ser160Leu)	not specified [RCV004648035]	uncertain significance	22	30264163	30264163	Human		name
407511398	CV3459713	single nucleotide variant	NM_020530.6(OSM):c.575G>A (p.Cys192Tyr)	not specified [RCV004648036]	uncertain significance	22	30264067	30264067	Human		name
407469895	CV3459714	single nucleotide variant	NM_020530.6(OSM):c.536C>G (p.Thr179Ser)	not specified [RCV004661894]	uncertain significance	22	30264106	30264106	Human		name
407511403	CV3459715	single nucleotide variant	NM_020530.6(OSM):c.493C>T (p.Pro165Ser)	not specified [RCV004648037]	uncertain significance	22	30264149	30264149	Human		name
598162104	CV3999073	single nucleotide variant	NM_020530.6(OSM):c.638G>A (p.Gly213Glu)	not specified [RCV005390751]	uncertain significance	22	30264004	30264004	Human		name
405290093	CV3214115	duplication	NM_003999.3(OSMR):c.419-8dup	OSMR-related disorder [RCV003926951]	likely benign	5	38883810	38883811	Human		name , trait , alternate_id
15106954	CV730362	single nucleotide variant	NM_003999.3(OSMR):c.419-4G>T	not provided [RCV000893382]	likely benign	5	38883823	38883823	Human		name
401918705	CV2794649	single nucleotide variant	NM_003999.3(OSMR):c.1286-3C>T	not specified [RCV003388323]	uncertain significance	5	38917543	38917543	Human		name
405265996	CV3220968	single nucleotide variant	NM_003999.3(OSMR):c.991+40G>A	OSMR-related disorder [RCV003969119]	likely benign	5	38886230	38886230	Human		name , trait , alternate_id
405285130	CV3202440	single nucleotide variant	NM_003999.3(OSMR):c.1585+155G>T	OSMR-related disorder [RCV003909706]	benign	5	38919217	38919217	Human		name , trait , alternate_id
8580961	CV115397	single nucleotide variant	NR_109951.1(OSMR-AS1):n.163-13381C>G	Lung cancer [RCV000095920]	uncertain significance	5	38809850	38809850	Human		name
155922181	CV2340580	single nucleotide variant	NM_003999.3(OSMR):c.461A>C (p.Lys154Thr)	Inborn genetic diseases [RCV002969549]\|OSMR-related disorder [RCV003963759]	likely benign\|uncertain significance	5	38883869	38883869	Human	2	name , trait , alternate_id
401933178	CV2797472	single nucleotide variant	NM_003999.3(OSMR):c.2420T>C (p.Ile807Thr)	OSMR-related disorder [RCV003392755]	uncertain significance	5	38932924	38932924	Human		name , trait , alternate_id
405279867	CV3191556	single nucleotide variant	NM_003999.3(OSMR):c.561T>G (p.His187Gln)	OSMR-related disorder [RCV003919705]	benign	5	38883969	38883969	Human		name , trait , alternate_id
405275660	CV3199361	single nucleotide variant	NM_003999.3(OSMR):c.2877C>G (p.Pro959=)	OSMR-related disorder [RCV003916775]	benign	5	38933381	38933381	Human		name , trait , alternate_id
405258271	CV3203191	single nucleotide variant	NM_003999.3(OSMR):c.1515C>T (p.Cys505=)	OSMR-related disorder [RCV003941798]	likely benign	5	38918992	38918992	Human		name , trait , alternate_id
405258657	CV3203911	single nucleotide variant	NM_003999.3(OSMR):c.1707C>T (p.Leu569=)	OSMR-related disorder [RCV003942070]	likely benign	5	38921736	38921736	Human		name , trait , alternate_id
405291735	CV3206074	single nucleotide variant	NM_003999.3(OSMR):c.2880G>A (p.Pro960=)	OSMR-related disorder [RCV003964157]	likely benign	5	38933384	38933384	Human		name , trait , alternate_id
405287937	CV3218002	single nucleotide variant	NM_003999.3(OSMR):c.1579G>A (p.Glu527Lys)	OSMR-related disorder [RCV003982126]	benign	5	38919056	38919056	Human	3	name , trait , alternate_id
15196774	CV699090	single nucleotide variant	NM_003999.3(OSMR):c.132G>A (p.Thr44=)	OSMR-related disorder [RCV003926043]\|not provided [RCV000956280]	benign	5	38876259	38876259	Human	1	name , trait , alternate_id
15102222	CV721451	single nucleotide variant	NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)	OSMR-related disorder [RCV003910619]\|not provided [RCV000892437]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	38917567	38917567	Human	5	name , trait , alternate_id
15102222	CV721451	single nucleotide variant	NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)	OSMR-related disorder [RCV003910619]\|not provided [RCV000892437]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	38917567	38917568	Human	5	name , trait , alternate_id
15195545	CV721452	single nucleotide variant	NM_003999.3(OSMR):c.2849C>A (p.Ala950Glu)	OSMR-related disorder [RCV003910549]\|not provided [RCV000889532]	benign\|likely benign	5	38933353	38933353	Human	1	name , trait , alternate_id
15188004	CV735106	single nucleotide variant	NM_003999.3(OSMR):c.1881C>A (p.Asp627Glu)	OSMR-related disorder [RCV003902858]\|not provided [RCV000909245]	benign\|likely benign	5	38924432	38924432	Human	1	name , trait , alternate_id
156271722	CV2290383	single nucleotide variant	NM_003999.3(OSMR):c.4G>T (p.Ala2Ser)	Inborn genetic diseases [RCV002856060]	uncertain significance	5	38869048	38869048	Human	1	name
156372561	CV2194450	single nucleotide variant	NM_003999.3(OSMR):c.86G>A (p.Arg29His)	Inborn genetic diseases [RCV002677036]	uncertain significance	5	38876213	38876213	Human	1	name
329362994	CV2464882	single nucleotide variant	NM_003999.3(OSMR):c.28A>G (p.Thr10Ala)	Inborn genetic diseases [RCV003206272]	uncertain significance	5	38869072	38869072	Human	1	name
329353627	CV2466948	single nucleotide variant	NM_003999.3(OSMR):c.79G>A (p.Ala27Thr)	Inborn genetic diseases [RCV003201393]	uncertain significance	5	38876206	38876206	Human	1	name
401783990	CV2720930	single nucleotide variant	NM_003999.3(OSMR):c.85C>T (p.Arg29Cys)	Inborn genetic diseases [RCV003310137]	uncertain significance	5	38876212	38876212	Human	1	name
15127706	CV735101	single nucleotide variant	NM_003999.3(OSMR):c.903C>T (p.Asp301=)	not provided [RCV000897155]	benign	5	38886102	38886102	Human		name
155920433	CV2343352	single nucleotide variant	NM_003999.3(OSMR):c.160G>A (p.Val54Ile)	Inborn genetic diseases [RCV002969315]	uncertain significance	5	38876287	38876287	Human	1	name
401917669	CV2827735	single nucleotide variant	NM_003999.3(OSMR):c.1494C>T (p.Asp498=)	not provided [RCV003429622]	likely benign	5	38918971	38918971	Human		name
401917672	CV2827736	single nucleotide variant	NM_003999.3(OSMR):c.1872T>C (p.Ala624=)	not provided [RCV003429623]	benign	5	38924423	38924423	Human		name
405784406	CV3374326	single nucleotide variant	NM_003999.3(OSMR):c.134G>A (p.Arg45His)	Inborn genetic diseases [RCV004504539]	likely benign	5	38876261	38876261	Human	1	name
15110199	CV709915	single nucleotide variant	NM_003999.3(OSMR):c.2196G>A (p.Thr732=)	not provided [RCV000960852]	benign	5	38925355	38925355	Human		name
15191838	CV735104	single nucleotide variant	NM_003999.3(OSMR):c.1524C>T (p.Ala508=)	not provided [RCV000910364]	likely benign	5	38919001	38919001	Human		name
15115817	CV735107	single nucleotide variant	NM_003999.3(OSMR):c.2304G>A (p.Glu768=)	not provided [RCV000895096]	likely benign	5	38932472	38932472	Human		name
15159953	CV749509	single nucleotide variant	NM_003999.3(OSMR):c.1785T>C (p.Val595=)	not provided [RCV000925386]	likely benign	5	38923169	38923169	Human		name
126733046	CV1020092	deletion	NM_003999.3(OSMR):c.1750del (p.Thr584fs)	Primary localized cutaneous amyloidosis 1 [RCV001334198]	pathogenic	5	38921779	38921779	Human		name
126733053	CV1020094	deletion	NM_003999.3(OSMR):c.1849del (p.Thr617fs)	Primary localized cutaneous amyloidosis 1 [RCV001334200]	pathogenic	5	38923227	38923227	Human		name
156290487	CV2226182	single nucleotide variant	NM_003999.3(OSMR):c.494C>T (p.Thr165Ile)	Inborn genetic diseases [RCV002747737]	uncertain significance	5	38883902	38883902	Human	1	name
156336616	CV2270859	single nucleotide variant	NM_003999.3(OSMR):c.755C>G (p.Thr252Ser)	Inborn genetic diseases [RCV002835821]	uncertain significance	5	38885400	38885400	Human	1	name
156347636	CV2315366	single nucleotide variant	NM_003999.3(OSMR):c.682G>C (p.Gly228Arg)	Inborn genetic diseases [RCV002939381]	uncertain significance	5	38884090	38884090	Human	1	name
156190335	CV2325471	single nucleotide variant	NM_003999.3(OSMR):c.689T>C (p.Val230Ala)	Inborn genetic diseases [RCV002930942]	uncertain significance	5	38884097	38884097	Human	1	name
155922191	CV2340581	single nucleotide variant	NM_003999.3(OSMR):c.971T>G (p.Leu324Arg)	Inborn genetic diseases [RCV002969550]	uncertain significance	5	38886170	38886170	Human	1	name
329376656	CV2428497	single nucleotide variant	NM_003999.3(OSMR):c.392A>G (p.Asn131Ser)	Inborn genetic diseases [RCV003174232]	uncertain significance	5	38881738	38881738	Human	1	name
401753464	CV2684949	single nucleotide variant	NM_003999.3(OSMR):c.704A>C (p.Lys235Thr)	Inborn genetic diseases [RCV003254674]	uncertain significance	5	38885349	38885349	Human	1	name
401855816	CV2757488	single nucleotide variant	NM_003999.3(OSMR):c.451G>A (p.Val151Ile)	Inborn genetic diseases [RCV003340004]	likely benign	5	38883859	38883859	Human	1	name
401894028	CV2773576	single nucleotide variant	NM_003999.3(OSMR):c.511A>G (p.Arg171Gly)	Inborn genetic diseases [RCV003370992]	uncertain significance	5	38883919	38883919	Human	1	name
405784483	CV3374338	single nucleotide variant	NM_003999.3(OSMR):c.500G>T (p.Cys167Phe)	Inborn genetic diseases [RCV004504551]	uncertain significance	5	38883908	38883908	Human	1	name
597691824	CV3567791	single nucleotide variant	NM_003999.3(OSMR):c.802T>C (p.Ser268Pro)	Inborn genetic diseases [RCV004954261]	uncertain significance	5	38885447	38885447	Human	1	name
598162114	CV3999076	single nucleotide variant	NM_003999.3(OSMR):c.917A>G (p.Tyr306Cys)	Inborn genetic diseases [RCV005390753]	uncertain significance	5	38886116	38886116	Human	1	name
598162118	CV3999077	single nucleotide variant	NM_003999.3(OSMR):c.694T>C (p.Phe232Leu)	Inborn genetic diseases [RCV005390754]	uncertain significance	5	38884102	38884102	Human	1	name
598208787	CV4007773	single nucleotide variant	NM_003999.3(OSMR):c.572T>C (p.Leu191Pro)	Amyloidosis, primary localized cutaneous, 1 [RCV005400087]	uncertain significance	5	38883980	38883980	Human	1	name
15161623	CV709913	single nucleotide variant	NM_003999.3(OSMR):c.604A>T (p.Ser202Cys)	not provided [RCV000970121]	benign	5	38884012	38884012	Human		name
15199176	CV721450	single nucleotide variant	NM_003999.3(OSMR):c.505G>A (p.Val169Ile)	Inborn genetic diseases [RCV002540088]\|not provided [RCV000890562]	benign\|likely benign	5	38883913	38883913	Human	1	name
8626029	CV81173	single nucleotide variant	NM_003999.2(OSMR):c.502T>C (p.Tyr168His)	Malignant melanoma [RCV000061251]	not provided	5	38883910	38883910	Human		name
126733051	CV1020093	single nucleotide variant	NM_003999.3(OSMR):c.1786C>T (p.Arg596Ter)	Amyloidosis, primary localized cutaneous, 1 [RCV004796568]	pathogenic\|uncertain significance	5	38923170	38923170	Human	1	name
126758894	CV1026640	single nucleotide variant	NM_003999.3(OSMR):c.2020C>T (p.Arg674Ter)	not provided [RCV001339977]	uncertain significance	5	38924571	38924571	Human		name
150546486	CV1296241	single nucleotide variant	NM_003999.3(OSMR):c.1046C>A (p.Ala349Asp)	not provided [RCV001763531]	uncertain significance	5	38903936	38903936	Human		name
150546488	CV1296242	single nucleotide variant	NM_003999.3(OSMR):c.1204G>C (p.Ala402Pro)	not provided [RCV001763532]	uncertain significance	5	38904422	38904422	Human		name
155977555	CV2214879	single nucleotide variant	NM_003999.3(OSMR):c.2879C>T (p.Pro960Leu)	Inborn genetic diseases [RCV002688060]	likely benign	5	38933383	38933383	Human	1	name
156046287	CV2234633	single nucleotide variant	NM_003999.3(OSMR):c.2071A>C (p.Ile691Leu)	Inborn genetic diseases [RCV002781749]	uncertain significance	5	38925230	38925230	Human	1	name
156057754	CV2239128	single nucleotide variant	NM_003999.3(OSMR):c.2851G>C (p.Val951Leu)	Inborn genetic diseases [RCV002782407]	uncertain significance	5	38933355	38933355	Human	1	name
155922535	CV2240707	single nucleotide variant	NM_003999.3(OSMR):c.2882C>T (p.Thr961Ile)	Inborn genetic diseases [RCV002773199]	uncertain significance	5	38933386	38933386	Human	1	name
156033390	CV2256413	single nucleotide variant	NM_003999.3(OSMR):c.2515T>A (p.Tyr839Asn)	Inborn genetic diseases [RCV002821217]	uncertain significance	5	38933019	38933019	Human	1	name
8560131	CV22847	single nucleotide variant	NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)	Amyloidosis, primary localized cutaneous, 1 [RCV000008251]	pathogenic	5	38925231	38925231	Human	1	name
8560132	CV22848	single nucleotide variant	NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)	Amyloidosis, primary localized cutaneous, 1 [RCV000008252]	pathogenic	5	38923237	38923237	Human	1	name
156065690	CV2317786	single nucleotide variant	NM_003999.3(OSMR):c.1525A>G (p.Asn509Asp)	Inborn genetic diseases [RCV002925321]	uncertain significance	5	38919002	38919002	Human	1	name
155975010	CV2342618	single nucleotide variant	NM_003999.3(OSMR):c.1571C>G (p.Ala524Gly)	Inborn genetic diseases [RCV002973326]	likely benign	5	38919048	38919048	Human	1	name
156039635	CV2384282	single nucleotide variant	NM_003999.3(OSMR):c.2753T>C (p.Val918Ala)	Inborn genetic diseases [RCV002704257]	uncertain significance	5	38933257	38933257	Human	1	name
156112985	CV2387973	single nucleotide variant	NM_003999.3(OSMR):c.2783A>C (p.Asp928Ala)	Inborn genetic diseases [RCV002739839]	uncertain significance	5	38933287	38933287	Human	1	name
329382299	CV2438713	single nucleotide variant	NM_003999.3(OSMR):c.2144C>G (p.Thr715Ser)	Inborn genetic diseases [RCV003175951]	uncertain significance	5	38925303	38925303	Human	1	name
329357429	CV2453592	single nucleotide variant	NM_003999.3(OSMR):c.2596T>G (p.Ser866Ala)	Inborn genetic diseases [RCV003203696]\|not provided [RCV004725677]	uncertain significance	5	38933100	38933100	Human	1	name
401728757	CV2673037	single nucleotide variant	NM_003999.3(OSMR):c.1580A>C (p.Glu527Ala)	Inborn genetic diseases [RCV003247579]	uncertain significance	5	38919057	38919057	Human	1	name
401774788	CV2688287	single nucleotide variant	NM_003999.3(OSMR):c.2250C>G (p.Phe750Leu)	Inborn genetic diseases [RCV003285874]	likely benign	5	38931920	38931920	Human	1	name
401750599	CV2689467	single nucleotide variant	NM_003999.3(OSMR):c.1547C>G (p.Pro516Arg)	Inborn genetic diseases [RCV003253706]	uncertain significance	5	38919024	38919024	Human	1	name
401757738	CV2707941	single nucleotide variant	NM_003999.3(OSMR):c.1187C>G (p.Pro396Arg)	Inborn genetic diseases [RCV003256149]	uncertain significance	5	38904405	38904405	Human	1	name
401779979	CV2725805	single nucleotide variant	NM_003999.3(OSMR):c.1000A>T (p.Met334Leu)	Inborn genetic diseases [RCV003287778]	uncertain significance	5	38903890	38903890	Human	1	name
401739017	CV2738458	single nucleotide variant	NM_003999.3(OSMR):c.1927C>G (p.Leu643Val)	not specified [RCV003317850]	uncertain significance	5	38924478	38924478	Human		name
401881086	CV2763237	single nucleotide variant	NM_003999.3(OSMR):c.2142C>G (p.Ile714Met)	Inborn genetic diseases [RCV003349911]	uncertain significance	5	38925301	38925301	Human	1	name
401871998	CV2775809	single nucleotide variant	NM_003999.3(OSMR):c.1232A>G (p.His411Arg)	Inborn genetic diseases [RCV003361677]	uncertain significance	5	38904450	38904450	Human	1	name
405784389	CV3374323	single nucleotide variant	NM_003999.3(OSMR):c.1201A>G (p.Met401Val)	Inborn genetic diseases [RCV004504536]	uncertain significance	5	38904419	38904419	Human	1	name
405784396	CV3374324	single nucleotide variant	NM_003999.3(OSMR):c.1213C>T (p.Arg405Trp)	Inborn genetic diseases [RCV004504537]	uncertain significance	5	38904431	38904431	Human	1	name
405784402	CV3374325	single nucleotide variant	NM_003999.3(OSMR):c.1214G>T (p.Arg405Leu)	Inborn genetic diseases [RCV004504538]	uncertain significance	5	38904432	38904432	Human	1	name
405784414	CV3374327	single nucleotide variant	NM_003999.3(OSMR):c.1409T>C (p.Val470Ala)	Inborn genetic diseases [RCV004504540]	uncertain significance	5	38918886	38918886	Human	1	name
405784418	CV3374328	single nucleotide variant	NM_003999.3(OSMR):c.1628T>G (p.Phe543Cys)	Inborn genetic diseases [RCV004504541]	uncertain significance	5	38921657	38921657	Human	1	name
405784424	CV3374329	single nucleotide variant	NM_003999.3(OSMR):c.1708G>A (p.Gly570Ser)	Inborn genetic diseases [RCV004504542]	uncertain significance	5	38921737	38921737	Human	1	name
405784431	CV3374330	single nucleotide variant	NM_003999.3(OSMR):c.1891G>A (p.Val631Met)	Inborn genetic diseases [RCV004504543]	uncertain significance	5	38924442	38924442	Human	1	name
405784437	CV3374331	single nucleotide variant	NM_003999.3(OSMR):c.1924A>G (p.Thr642Ala)	Inborn genetic diseases [RCV004504544]	uncertain significance	5	38924475	38924475	Human	1	name
405784444	CV3374332	single nucleotide variant	NM_003999.3(OSMR):c.2201C>T (p.Pro734Leu)	Inborn genetic diseases [RCV004504545]	uncertain significance	5	38925360	38925360	Human	1	name
405784452	CV3374333	single nucleotide variant	NM_003999.3(OSMR):c.2329C>T (p.Pro777Ser)	Inborn genetic diseases [RCV004504546]	uncertain significance	5	38932497	38932497	Human	1	name
405784457	CV3374334	single nucleotide variant	NM_003999.3(OSMR):c.2569G>A (p.Glu857Lys)	Inborn genetic diseases [RCV004504547]	uncertain significance	5	38933073	38933073	Human	1	name
405784463	CV3374335	single nucleotide variant	NM_003999.3(OSMR):c.2615G>A (p.Gly872Asp)	Inborn genetic diseases [RCV004504548]	uncertain significance	5	38933119	38933119	Human	1	name
405784470	CV3374336	single nucleotide variant	NM_003999.3(OSMR):c.2750A>G (p.Tyr917Cys)	Inborn genetic diseases [RCV004504549]	uncertain significance	5	38933254	38933254	Human	1	name
405784477	CV3374337	single nucleotide variant	NM_003999.3(OSMR):c.2911C>G (p.Leu971Val)	Inborn genetic diseases [RCV004504550]	uncertain significance	5	38933415	38933415	Human	1	name
407511407	CV3459716	single nucleotide variant	NM_003999.3(OSMR):c.1841A>C (p.Glu614Ala)	Inborn genetic diseases [RCV004648038]	uncertain significance	5	38923225	38923225	Human	1	name
407469902	CV3459717	single nucleotide variant	NM_003999.3(OSMR):c.1158C>A (p.Asn386Lys)	Inborn genetic diseases [RCV004661895]	uncertain significance	5	38904376	38904376	Human	1	name
407511411	CV3459718	single nucleotide variant	NM_003999.3(OSMR):c.2036T>A (p.Val679Asp)	Inborn genetic diseases [RCV004648039]	uncertain significance	5	38924587	38924587	Human	1	name
407469904	CV3459719	single nucleotide variant	NM_003999.3(OSMR):c.2078A>G (p.Asn693Ser)	Inborn genetic diseases [RCV004661896]	uncertain significance	5	38925237	38925237	Human	1	name
407469909	CV3459720	single nucleotide variant	NM_003999.3(OSMR):c.1306G>A (p.Val436Ile)	Inborn genetic diseases [RCV004661897]	uncertain significance	5	38917566	38917566	Human	1	name
597691751	CV3567782	single nucleotide variant	NM_003999.3(OSMR):c.1076G>A (p.Arg359Lys)	Inborn genetic diseases [RCV004954252]	uncertain significance	5	38903966	38903966	Human	1	name
597691759	CV3567783	single nucleotide variant	NM_003999.3(OSMR):c.1762A>T (p.Thr588Ser)	Inborn genetic diseases [RCV004954253]	likely benign	5	38921791	38921791	Human	1	name
597691769	CV3567784	single nucleotide variant	NM_003999.3(OSMR):c.2668C>T (p.Pro890Ser)	Inborn genetic diseases [RCV004954254]	uncertain significance	5	38933172	38933172	Human	1	name
597691776	CV3567785	single nucleotide variant	NM_003999.3(OSMR):c.2725C>T (p.Pro909Ser)	Inborn genetic diseases [RCV004954255]	uncertain significance	5	38933229	38933229	Human	1	name
597691786	CV3567786	single nucleotide variant	NM_003999.3(OSMR):c.1316T>C (p.Ile439Thr)	Inborn genetic diseases [RCV004954256]	uncertain significance	5	38917576	38917576	Human	1	name
597691796	CV3567787	single nucleotide variant	NM_003999.3(OSMR):c.1916A>T (p.His639Leu)	Inborn genetic diseases [RCV004954257]	uncertain significance	5	38924467	38924467	Human	1	name
597691803	CV3567788	single nucleotide variant	NM_003999.3(OSMR):c.1376T>C (p.Leu459Pro)	Inborn genetic diseases [RCV004954258]	uncertain significance	5	38918853	38918853	Human	1	name
597691810	CV3567789	single nucleotide variant	NM_003999.3(OSMR):c.2723T>G (p.Ile908Ser)	Inborn genetic diseases [RCV004954259]	uncertain significance	5	38933227	38933227	Human	1	name
597691815	CV3567790	single nucleotide variant	NM_003999.3(OSMR):c.1220C>T (p.Ala407Val)	Inborn genetic diseases [RCV004954260]	uncertain significance	5	38904438	38904438	Human	1	name
597691832	CV3567792	single nucleotide variant	NM_003999.3(OSMR):c.1609G>A (p.Ala537Thr)	Inborn genetic diseases [RCV004954262]	uncertain significance	5	38921638	38921638	Human	1	name
597691841	CV3567793	single nucleotide variant	NM_003999.3(OSMR):c.1946C>T (p.Ser649Phe)	Inborn genetic diseases [RCV004954263]	uncertain significance	5	38924497	38924497	Human	1	name
8568199	CV39176	single nucleotide variant	NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)	Amyloidosis, primary localized cutaneous, 1 [RCV000023143]	pathogenic	5	38924491	38924491	Human	1	name
8568200	CV39177	single nucleotide variant	NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)	Amyloidosis, primary localized cutaneous, 1 [RCV000023144]\|not provided [RCV000439038]	pathogenic\|likely pathogenic	5	38925240	38925240	Human	1	name
8568201	CV39178	single nucleotide variant	NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr)	Amyloidosis, primary localized cutaneous, 1 [RCV000023145]	pathogenic	5	38925249	38925249	Human	1	name
598184077	CV3999075	single nucleotide variant	NM_003999.3(OSMR):c.2678T>C (p.Val893Ala)	Inborn genetic diseases [RCV005395397]	uncertain significance	5	38933182	38933182	Human	1	name
598208782	CV4007772	single nucleotide variant	NM_003999.3(OSMR):c.1985T>C (p.Val662Ala)	Amyloidosis, primary localized cutaneous, 1 [RCV005400086]	uncertain significance	5	38924536	38924536	Human	1	name
15196779	CV699091	single nucleotide variant	NM_003999.3(OSMR):c.1162G>A (p.Glu388Lys)	not provided [RCV000956281]	benign	5	38904380	38904380	Human		name
15182145	CV709914	single nucleotide variant	NM_003999.3(OSMR):c.1090T>C (p.Tyr364His)	not provided [RCV000974562]	benign	5	38903980	38903980	Human		name
15185763	CV735102	single nucleotide variant	NM_003999.3(OSMR):c.1214G>A (p.Arg405Gln)	not provided [RCV000908618]	benign	5	38904432	38904432	Human		name
15122266	CV735103	single nucleotide variant	NM_003999.3(OSMR):c.1516G>A (p.Val506Ile)	Inborn genetic diseases [RCV003338847]\|not provided [RCV000896211]	likely benign\|uncertain significance	5	38918993	38918993	Human	1	name
15117461	CV735105	single nucleotide variant	NM_003999.3(OSMR):c.1591G>A (p.Val531Ile)	Inborn genetic diseases [RCV002540137]\|not provided [RCV000895380]	likely benign\|uncertain significance	5	38921620	38921620	Human	1	name
15155215	CV735108	single nucleotide variant	NM_003999.3(OSMR):c.2399G>C (p.Ser800Thr)	not provided [RCV000902100]	likely benign	5	38932903	38932903	Human		name
15131694	CV765138	single nucleotide variant	NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys)	Inborn genetic diseases [RCV002544586]\|not provided [RCV000942271]	likely benign\|uncertain significance	5	38933042	38933042	Human	1	name
15145336	CV782305	single nucleotide variant	NM_003999.3(OSMR):c.2647A>G (p.Met883Val)	not provided [RCV000983645]	likely benign	5	38933151	38933151	Human		name
21071368	CV790561	single nucleotide variant	NM_003999.3(OSMR):c.1538G>A (p.Gly513Asp)	Amyloidosis, primary localized cutaneous, 1 [RCV000987518]	conflicting interpretations of pathogenicity\|uncertain significance	5	38919015	38919015	Human	1	name
150551559	CV1292790	deletion	NM_003999.3(OSMR):c.2858_2883del (p.Leu953fs)	not provided [RCV001754398]	uncertain significance	5	38933360	38933385	Human		name
155265524	CV1695670	indel	NM_003999.3(OSMR):c.189_193delinsT (p.Leu63fs)	not provided [RCV002280401]	uncertain significance	5	38876316	38876320	Human		name

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