Mbp Variant Search Result - Rat Genome Database

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125 records found for search term Mbp

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15100488	CV776469	single nucleotide variant	NM_001025101.2(MBP):c.750+9C>T	not provided [RCV000936640]	likely benign	18	76988486	76988486	Human		name
15158191	CV741472	single nucleotide variant	NM_001025101.2(MBP):c.243C>T (p.His81=)	not provided [RCV000902684]	likely benign	18	77017165	77017165	Human		name
15103475	CV704683	single nucleotide variant	NM_001025101.2(MBP):c.657C>T (p.Pro219=)	not provided [RCV000959488]	benign	18	76989980	76989980	Human		name
15203126	CV756573	single nucleotide variant	NM_001025101.2(MBP):c.877A>C (p.Arg293=)	not provided [RCV000913734]	likely benign	18	76980465	76980465	Human		name
15126957	CV756574	single nucleotide variant	NM_001025101.2(MBP):c.507G>A (p.Thr169=)	not provided [RCV000919418]	likely benign	18	77016901	77016901	Human		name
15121360	CV756575	single nucleotide variant	NM_001025101.2(MBP):c.391C>T (p.Leu131=)	not provided [RCV000918470]	benign	18	77017017	77017017	Human		name
15194106	CV772265	single nucleotide variant	NM_001025101.2(MBP):c.888C>T (p.Arg296=)	not provided [RCV000933549]	likely benign	18	76980454	76980454	Human		name
15196449	CV772266	single nucleotide variant	NM_001025101.2(MBP):c.867G>A (p.Lys289=)	not provided [RCV000934222]	likely benign	18	76984778	76984778	Human		name
155943539	CV2245082	single nucleotide variant	NM_001025101.2(MBP):c.490C>T (p.Pro164Ser)	not specified [RCV004104796]	uncertain significance	18	77016918	77016918	Human		name
155924518	CV2277129	single nucleotide variant	NM_001025101.2(MBP):c.604C>T (p.His202Tyr)	not specified [RCV004142777]	uncertain significance	18	76990033	76990033	Human		name
156279386	CV2297660	single nucleotide variant	NM_001025101.2(MBP):c.490C>G (p.Pro164Ala)	not specified [RCV004155346]	uncertain significance	18	77016918	77016918	Human		name
156295391	CV2303048	single nucleotide variant	NM_001025101.2(MBP):c.848C>T (p.Thr283Met)	not specified [RCV004156838]	uncertain significance	18	76984797	76984797	Human		name
156346883	CV2305526	single nucleotide variant	NM_001025101.2(MBP):c.811G>T (p.Ala271Ser)	not specified [RCV004165231]	uncertain significance	18	76984834	76984834	Human		name
155906315	CV2357297	single nucleotide variant	NM_001025101.2(MBP):c.547A>G (p.Arg183Gly)	not specified [RCV004200193]	uncertain significance	18	77016861	77016861	Human		name
156320353	CV2400393	single nucleotide variant	NM_001025101.2(MBP):c.491C>T (p.Pro164Leu)	not specified [RCV004244443]	uncertain significance	18	77016917	77016917	Human		name
329353769	CV2439507	single nucleotide variant	NM_001025101.2(MBP):c.883A>G (p.Ser295Gly)	not specified [RCV004262446]	uncertain significance	18	76980459	76980459	Human		name
401731248	CV2674310	single nucleotide variant	NM_001025101.2(MBP):c.557C>T (p.Pro186Leu)	not specified [RCV004289188]	uncertain significance	18	77016851	77016851	Human		name
401861270	CV2755513	single nucleotide variant	NM_001025101.2(MBP):c.476G>A (p.Arg159Lys)	not specified [RCV004340097]	uncertain significance	18	77016932	77016932	Human		name
401896837	CV2788834	single nucleotide variant	NM_001025101.2(MBP):c.454G>A (p.Ala152Thr)	not specified [RCV004361288]	uncertain significance	18	77016954	77016954	Human		name
405668418	CV3278254	single nucleotide variant	NM_001025101.2(MBP):c.551G>A (p.Gly184Asp)	not specified [RCV004418999]	uncertain significance	18	77016857	77016857	Human		name
405668424	CV3278255	single nucleotide variant	NM_001025101.2(MBP):c.661G>A (p.Val221Ile)	not specified [RCV004419000]	uncertain significance	18	76989976	76989976	Human		name
407469404	CV3457124	single nucleotide variant	NM_001025101.2(MBP):c.464T>A (p.Met155Lys)	not specified [RCV004636616]	uncertain significance	18	77016944	77016944	Human		name
597647234	CV3694639	single nucleotide variant	NM_001025101.2(MBP):c.562C>T (p.Arg188Trp)	not specified [RCV004942632]	uncertain significance	18	77016846	77016846	Human		name
598178039	CV3981962	single nucleotide variant	NM_001025101.2(MBP):c.464T>G (p.Met155Arg)	not specified [RCV005371713]	uncertain significance	18	77016944	77016944	Human		name
598210034	CV3981963	single nucleotide variant	NM_001025101.2(MBP):c.871G>C (p.Gly291Arg)	not specified [RCV005377799]	uncertain significance	18	76980471	76980471	Human		name
598178045	CV3981964	single nucleotide variant	NM_001025101.2(MBP):c.565G>A (p.Gly189Ser)	not specified [RCV005371714]	uncertain significance	18	77016843	77016843	Human		name
598210041	CV3981965	single nucleotide variant	NM_001025101.2(MBP):c.389G>C (p.Ser130Thr)	not specified [RCV005377800]	uncertain significance	18	77017019	77017019	Human		name
598210048	CV3981966	single nucleotide variant	NM_001025101.2(MBP):c.830G>A (p.Gly277Glu)	not specified [RCV005377801]	uncertain significance	18	76984815	76984815	Human		name
15162627	CV704684	single nucleotide variant	NM_001025101.2(MBP):c.601G>A (p.Ala201Thr)	not provided [RCV000947889]	benign	18	76990036	76990036	Human		name
126727120	CV1017291	single nucleotide variant	NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr)	Mannose-binding lectin deficiency [RCV001332301]\|not provided [RCV004692556]	uncertain significance	10	52768435	52768435	Human	1	alternate_id
8564203	CV29389	single nucleotide variant	NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)	Mannose-binding lectin deficiency [RCV000015424]\|not provided [RCV002274880]\|not specified [RCV001777138]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	52771475	52771475	Human	5	alternate_id
8564203	CV29389	single nucleotide variant	NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)	Mannose-binding lectin deficiency [RCV000015424]\|not provided [RCV002274880]\|not specified [RCV001777138]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	52771475	52771476	Human	5	alternate_id
8564204	CV29390	single nucleotide variant	NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu)	Mannose-binding lectin deficiency [RCV000015425]\|not provided [RCV001642227]\|not specified [RCV000455297]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	10	52771466	52771466	Human	4	alternate_id
8564204	CV29390	single nucleotide variant	NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu)	Mannose-binding lectin deficiency [RCV000015425]\|not provided [RCV001642227]\|not specified [RCV000455297]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	10	52771466	52771467	Human	4	alternate_id
8564205	CV29391	single nucleotide variant	NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)	Cystic fibrosis [RCV000991134]\|Mannose-binding lectin deficiency [RCV000015426]\|not provided [RCV002274881]	pathogenic\|risk factor\|conflicting interpretations of pathogenicity\|uncertain significance	10	52771482	52771482	Human	4	alternate_id
8564205	CV29391	single nucleotide variant	NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)	Cystic fibrosis [RCV000991134]\|Mannose-binding lectin deficiency [RCV000015426]\|not provided [RCV002274881]	pathogenic\|risk factor\|conflicting interpretations of pathogenicity\|uncertain significance	10	52771482	52771483	Human	4	alternate_id
11599241	CV310466	single nucleotide variant	NM_001378373.1(MBL2):c.*2727G>T	Mannose-binding lectin deficiency [RCV000263903]	uncertain significance	10	52765410	52765410	Human	1	alternate_id
11606673	CV310469	single nucleotide variant	NM_001378373.1(MBL2):c.*2450A>T	Mannose-binding lectin deficiency [RCV000334131]\|not provided [RCV003417969]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	52765687	52765687	Human	1	alternate_id
11612383	CV310476	single nucleotide variant	NM_001378373.1(MBL2):c.*2033G>A	Mannose-binding lectin deficiency [RCV000408206]	uncertain significance	10	52766104	52766104	Human	1	alternate_id
11604052	CV310478	deletion	NM_001378373.1(MBL2):c.*1995del	Mannose-binding lectin deficiency [RCV000305946]	uncertain significance	10	52766142	52766142	Human	1	alternate_id
11608584	CV310484	single nucleotide variant	NM_001378373.1(MBL2):c.*1819T>C	Mannose-binding lectin deficiency [RCV000357130]	uncertain significance	10	52766318	52766318	Human	1	alternate_id
11604734	CV310485	single nucleotide variant	NM_001378373.1(MBL2):c.*1695G>T	Mannose-binding lectin deficiency [RCV000312486]\|not provided [RCV003417970]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	52766442	52766442	Human	1	alternate_id
11606493	CV310487	single nucleotide variant	NM_001378373.1(MBL2):c.*1569A>G	Mannose-binding lectin deficiency [RCV000332412]	uncertain significance	10	52766568	52766568	Human	1	alternate_id
11599867	CV310488	single nucleotide variant	NM_001378373.1(MBL2):c.*1498C>T	Mannose-binding lectin deficiency [RCV000269194]	uncertain significance	10	52766639	52766639	Human	1	alternate_id
11664419	CV310496	single nucleotide variant	NM_001378373.1(MBL2):c.*674A>G	Mannose-binding lectin deficiency [RCV000405650]	uncertain significance	10	52767463	52767463	Human	1	alternate_id
11609844	CV310497	single nucleotide variant	NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu)	MBL2-related disorder [RCV003417972]\|Mannose-binding lectin deficiency [RCV000373660]\|not specified [RCV004935131]	uncertain significance	10	52770672	52770672	Human	1	alternate_id
11654705	CV310502	single nucleotide variant	NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu)	Mannose-binding lectin deficiency [RCV000320152]	uncertain significance	10	52771470	52771470	Human	1	alternate_id
11602868	CV310504	single nucleotide variant	NM_001378373.1(MBL2):c.-9-5C>G	Mannose-binding lectin deficiency [RCV000294457]\|not provided [RCV004692910]	uncertain significance	10	52771649	52771649	Human	1	alternate_id
11605166	CV315585	single nucleotide variant	NM_001378373.1(MBL2):c.*2702G>A	Mannose-binding lectin deficiency [RCV000316810]	uncertain significance	10	52765435	52765435	Human	1	alternate_id
11610911	CV315586	single nucleotide variant	NM_001378373.1(MBL2):c.*2477C>T	Mannose-binding lectin deficiency [RCV000387675]	uncertain significance	10	52765660	52765660	Human	1	alternate_id
11602422	CV315587	single nucleotide variant	NM_001378373.1(MBL2):c.*2048A>G	Mannose-binding lectin deficiency [RCV000290537]\|not provided [RCV004706763]	likely benign	10	52766089	52766089	Human	1	alternate_id
11607290	CV315589	single nucleotide variant	NM_001378373.1(MBL2):c.*1913C>T	Mannose-binding lectin deficiency [RCV000341830]\|not provided [RCV004705166]	likely benign	10	52766224	52766224	Human	1	alternate_id
11612138	CV315592	single nucleotide variant	NM_001378373.1(MBL2):c.*1879A>C	Mannose-binding lectin deficiency [RCV000404555]\|not provided [RCV004705167]	likely benign	10	52766258	52766258	Human	1	alternate_id
11609332	CV315593	single nucleotide variant	NM_001378373.1(MBL2):c.*1694G>T	Mannose-binding lectin deficiency [RCV000367075]\|not provided [RCV003417971]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	52766443	52766443	Human	1	alternate_id
11610527	CV315594	single nucleotide variant	NM_001378373.1(MBL2):c.*1429A>C	Mannose-binding lectin deficiency [RCV000383002]	uncertain significance	10	52766708	52766708	Human	1	alternate_id
11601824	CV315601	single nucleotide variant	NM_001378373.1(MBL2):c.*1136A>G	Mannose-binding lectin deficiency [RCV000285475]	uncertain significance	10	52767001	52767001	Human	1	alternate_id
11601398	CV315602	single nucleotide variant	NM_001378373.1(MBL2):c.*1088C>T	Mannose-binding lectin deficiency [RCV000281920]	uncertain significance	10	52767049	52767049	Human	1	alternate_id
11658564	CV315605	single nucleotide variant	NM_001378373.1(MBL2):c.*953T>C	Mannose-binding lectin deficiency [RCV000350185]	uncertain significance	10	52767184	52767184	Human	1	alternate_id
11605054	CV315607	single nucleotide variant	NM_001378373.1(MBL2):c.*865A>C	Mannose-binding lectin deficiency [RCV000315219]\|not provided [RCV004692909]	uncertain significance	10	52767272	52767272	Human	2	alternate_id
11605054	CV315607	single nucleotide variant	NM_001378373.1(MBL2):c.*865A>C	Mannose-binding lectin deficiency [RCV000315219]\|not provided [RCV004692909]	uncertain significance	10	52767272	52767273	Human	2	alternate_id
11654977	CV315618	single nucleotide variant	NM_001378373.1(MBL2):c.*282A>G	Mannose-binding lectin deficiency [RCV000322365]	uncertain significance	10	52767855	52767855	Human	1	alternate_id
11608673	CV315620	single nucleotide variant	NM_001378373.1(MBL2):c.*99T>G	Mannose-binding lectin deficiency [RCV000358518]	uncertain significance	10	52768038	52768038	Human	1	alternate_id
11605785	CV315631	single nucleotide variant	NM_001378373.1(MBL2):c.378C>G (p.Leu126=)	Mannose-binding lectin deficiency [RCV000323543]\|not provided [RCV004705170]\|not specified [RCV000454838]	benign\|likely benign	10	52768506	52768506	Human	1	alternate_id
11647060	CV321597	single nucleotide variant	NM_001378373.1(MBL2):c.*2470A>C	Mannose-binding lectin deficiency [RCV000274421]	uncertain significance	10	52765667	52765667	Human	1	alternate_id
11610954	CV321599	single nucleotide variant	NM_001378373.1(MBL2):c.*2388T>G	Mannose-binding lectin deficiency [RCV000388622]\|not provided [RCV004706762]	likely benign	10	52765749	52765749	Human	2	alternate_id
11610954	CV321599	single nucleotide variant	NM_001378373.1(MBL2):c.*2388T>G	Mannose-binding lectin deficiency [RCV000388622]\|not provided [RCV004706762]	likely benign	10	52765749	52765750	Human	2	alternate_id
11602268	CV321600	single nucleotide variant	NM_001378373.1(MBL2):c.*2219A>C	Mannose-binding lectin deficiency [RCV000289598]\|not provided [RCV004705164]	likely benign	10	52765918	52765918	Human	1	alternate_id
11607230	CV321603	single nucleotide variant	NM_001378373.1(MBL2):c.*2040G>T	Mannose-binding lectin deficiency [RCV000340808]\|not provided [RCV004705165]	likely benign	10	52766097	52766097	Human	1	alternate_id
11603216	CV321607	single nucleotide variant	NM_001378373.1(MBL2):c.*1857A>G	Mannose-binding lectin deficiency [RCV000297618]\|not provided [RCV004705168]	likely benign	10	52766280	52766280	Human	1	alternate_id
11606230	CV321610	single nucleotide variant	NM_001378373.1(MBL2):c.*1452A>T	Mannose-binding lectin deficiency [RCV000328982]	uncertain significance	10	52766685	52766685	Human	1	alternate_id
11601709	CV321616	single nucleotide variant	NM_001378373.1(MBL2):c.*1287C>T	Mannose-binding lectin deficiency [RCV000284430]	uncertain significance	10	52766850	52766850	Human	1	alternate_id
11606773	CV321625	single nucleotide variant	NM_001378373.1(MBL2):c.*1135A>G	Mannose-binding lectin deficiency [RCV000335836]\|not provided [RCV004692908]	uncertain significance	10	52767002	52767002	Human	1	alternate_id
11662983	CV321629	single nucleotide variant	NM_001378373.1(MBL2):c.*937A>G	Mannose-binding lectin deficiency [RCV000391264]	uncertain significance	10	52767200	52767200	Human	1	alternate_id
11609550	CV321630	single nucleotide variant	NM_001378373.1(MBL2):c.*675C>T	Mannose-binding lectin deficiency [RCV000369938]	uncertain significance	10	52767462	52767462	Human	1	alternate_id
11604181	CV321631	single nucleotide variant	NM_001378373.1(MBL2):c.*447G>C	Mannose-binding lectin deficiency [RCV000307052]	uncertain significance	10	52767690	52767690	Human	1	alternate_id
11609307	CV321640	single nucleotide variant	NM_001378373.1(MBL2):c.*324C>T	Mannose-binding lectin deficiency [RCV000366361]	uncertain significance	10	52767813	52767813	Human	1	alternate_id
11646572	CV321641	single nucleotide variant	NM_001378373.1(MBL2):c.*289C>T	Mannose-binding lectin deficiency [RCV000271799]	uncertain significance	10	52767848	52767848	Human	1	alternate_id
11607534	CV322346	single nucleotide variant	NM_001378373.1(MBL2):c.*2067C>T	Mannose-binding lectin deficiency [RCV000344465]	uncertain significance	10	52766070	52766070	Human	1	alternate_id
11662312	CV322355	single nucleotide variant	NM_001378373.1(MBL2):c.*2066G>T	Mannose-binding lectin deficiency [RCV000385044]	uncertain significance	10	52766071	52766071	Human	1	alternate_id
11598974	CV322358	single nucleotide variant	NM_001378373.1(MBL2):c.*1711T>G	Mannose-binding lectin deficiency [RCV000261947]\|not provided [RCV004692907]	uncertain significance	10	52766426	52766426	Human	1	alternate_id
11600826	CV322359	single nucleotide variant	NM_001378373.1(MBL2):c.*1691G>A	Mannose-binding lectin deficiency [RCV000277266]\|not provided [RCV004705169]	likely benign	10	52766446	52766446	Human	1	alternate_id
11660042	CV322360	single nucleotide variant	NM_001378373.1(MBL2):c.*1568C>T	Mannose-binding lectin deficiency [RCV000363718]	uncertain significance	10	52766569	52766569	Human	1	alternate_id
11605536	CV322365	single nucleotide variant	NM_001378373.1(MBL2):c.*1275T>C	Mannose-binding lectin deficiency [RCV000320760]\|not provided [RCV002510841]	likely benign	10	52766862	52766862	Human	1	alternate_id
11661774	CV322366	single nucleotide variant	NM_001378373.1(MBL2):c.*1144A>G	Mannose-binding lectin deficiency [RCV000379963]	uncertain significance	10	52766993	52766993	Human	1	alternate_id
11611156	CV322370	single nucleotide variant	NM_001378373.1(MBL2):c.*1134C>T	Mannose-binding lectin deficiency [RCV000391262]	uncertain significance	10	52767003	52767003	Human	1	alternate_id
11599763	CV322383	single nucleotide variant	NM_001378373.1(MBL2):c.483T>C (p.Ser161=)	MBL2-related disorder [RCV003950009]\|Mannose-binding lectin deficiency [RCV000268459]	likely benign\|uncertain significance	10	52768401	52768401	Human	1	alternate_id
11661259	CV322384	single nucleotide variant	NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala)	Mannose-binding lectin deficiency [RCV000374843]\|not specified [RCV004021476]	likely benign\|uncertain significance	10	52771473	52771473	Human	1	alternate_id
11666879	CV353129	single nucleotide variant	NC_000010.11:g.52771701G>A	Mannose-binding lectin deficiency [RCV000390620]\|not provided [RCV004705498]	likely benign	10	52771701	52771701	Human	1	alternate_id
12896982	CV389887	single nucleotide variant	NM_001378373.1(MBL2):c.132C>T (p.Asn44=)	Mannose-binding lectin deficiency [RCV001104675]\|not provided [RCV000872157]\|not specified [RCV000456080]	benign\|likely benign\|uncertain significance	10	52771504	52771504	Human	1	alternate_id
598200896	CV4007526	single nucleotide variant	NM_001378373.1(MBL2):c.254C>G (p.Ser85Cys)	Mannose-binding lectin deficiency [RCV005398357]	uncertain significance	10	52770720	52770720	Human	1	alternate_id
598200902	CV4007527	single nucleotide variant	NM_001378373.1(MBL2):c.265G>A (p.Gly89Arg)	Mannose-binding lectin deficiency [RCV005398358]	uncertain significance	10	52770709	52770709	Human	1	alternate_id
14688107	CV620365	single nucleotide variant	NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter)	Mannose-binding lectin deficiency [RCV005392373]\|not provided [RCV000883897]	likely benign\|uncertain significance	10	52768256	52768256	Human	1	alternate_id
15198932	CV752131	single nucleotide variant	NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser)	Mannose-binding lectin deficiency [RCV001102750]\|not provided [RCV000912398]	benign\|uncertain significance	10	52768357	52768357	Human	1	alternate_id
28897318	CV865955	single nucleotide variant	NM_001378373.1(MBL2):c.*2751A>C	Mannose-binding lectin deficiency [RCV001102559]	uncertain significance	10	52765386	52765386	Human	1	alternate_id
28897322	CV865956	single nucleotide variant	NM_001378373.1(MBL2):c.*2648C>A	Mannose-binding lectin deficiency [RCV001102560]	uncertain significance	10	52765489	52765489	Human	1	alternate_id
28901994	CV865957	single nucleotide variant	NM_001378373.1(MBL2):c.*2457G>C	Mannose-binding lectin deficiency [RCV001104480]	uncertain significance	10	52765680	52765680	Human	1	alternate_id
28901996	CV865958	single nucleotide variant	NM_001378373.1(MBL2):c.*2209T>C	Mannose-binding lectin deficiency [RCV001104481]	uncertain significance	10	52765928	52765928	Human	1	alternate_id
28901998	CV865959	single nucleotide variant	NM_001378373.1(MBL2):c.*2207G>A	Mannose-binding lectin deficiency [RCV001104482]	uncertain significance	10	52765930	52765930	Human	1	alternate_id
28902001	CV865960	single nucleotide variant	NM_001378373.1(MBL2):c.*2129T>C	Mannose-binding lectin deficiency [RCV001104483]	uncertain significance	10	52766008	52766008	Human	1	alternate_id
28907490	CV865961	single nucleotide variant	NM_001378373.1(MBL2):c.*2032C>T	Mannose-binding lectin deficiency [RCV001107250]	uncertain significance	10	52766105	52766105	Human	1	alternate_id
28908550	CV865962	single nucleotide variant	NM_001378373.1(MBL2):c.*1839A>G	Mannose-binding lectin deficiency [RCV001107891]	uncertain significance	10	52766298	52766298	Human	1	alternate_id
28908553	CV865963	single nucleotide variant	NM_001378373.1(MBL2):c.*1743T>C	Mannose-binding lectin deficiency [RCV001107892]	uncertain significance	10	52766394	52766394	Human	1	alternate_id
28897589	CV865964	single nucleotide variant	NM_001378373.1(MBL2):c.*1448C>T	Mannose-binding lectin deficiency [RCV001102663]	uncertain significance	10	52766689	52766689	Human	1	alternate_id
28897591	CV865965	single nucleotide variant	NM_001378373.1(MBL2):c.*1252A>C	Mannose-binding lectin deficiency [RCV001102664]	uncertain significance	10	52766885	52766885	Human	1	alternate_id
28902223	CV865966	single nucleotide variant	NM_001378373.1(MBL2):c.*1213C>T	Mannose-binding lectin deficiency [RCV001104577]	uncertain significance	10	52766924	52766924	Human	1	alternate_id
28902227	CV865967	single nucleotide variant	NM_001378373.1(MBL2):c.*966A>G	Mannose-binding lectin deficiency [RCV001104578]	uncertain significance	10	52767171	52767171	Human	1	alternate_id
28907616	CV865968	single nucleotide variant	NM_001378373.1(MBL2):c.*783C>T	Mannose-binding lectin deficiency [RCV001107330]	uncertain significance	10	52767354	52767354	Human	1	alternate_id
28907619	CV865969	single nucleotide variant	NM_001378373.1(MBL2):c.*708G>A	Mannose-binding lectin deficiency [RCV001107331]	uncertain significance	10	52767429	52767429	Human	1	alternate_id
28907621	CV865970	single nucleotide variant	NM_001378373.1(MBL2):c.*366G>A	Mannose-binding lectin deficiency [RCV001107332]	uncertain significance	10	52767771	52767771	Human	1	alternate_id
28908710	CV865971	single nucleotide variant	NM_001378373.1(MBL2):c.*7A>G	Mannose-binding lectin deficiency [RCV001107981]	uncertain significance	10	52768130	52768130	Human	1	alternate_id
28908713	CV865972	single nucleotide variant	NM_001378373.1(MBL2):c.*3G>T	MBL2-related disorder [RCV003906204]\|Mannose-binding lectin deficiency [RCV001107982]	likely benign\|uncertain significance	10	52768134	52768134	Human	1	alternate_id
28908717	CV865973	single nucleotide variant	NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys)	Mannose-binding lectin deficiency [RCV001107983]\|not provided [RCV003992446]	uncertain significance	10	52768151	52768151	Human	1	alternate_id
28908720	CV865974	single nucleotide variant	NM_001378373.1(MBL2):c.656A>T (p.Asp219Val)	Mannose-binding lectin deficiency [RCV001107984]\|not specified [RCV004032130]	uncertain significance	10	52768228	52768228	Human	1	alternate_id
28897800	CV865975	single nucleotide variant	NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys)	Mannose-binding lectin deficiency [RCV001102748]	uncertain significance	10	52768304	52768304	Human	1	alternate_id
28897804	CV865976	single nucleotide variant	NM_001378373.1(MBL2):c.549C>T (p.Phe183=)	Mannose-binding lectin deficiency [RCV001102749]	uncertain significance	10	52768335	52768335	Human	1	alternate_id
28897811	CV865977	single nucleotide variant	NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro)	Mannose-binding lectin deficiency [RCV001102751]	uncertain significance	10	52768394	52768394	Human	1	alternate_id
28897814	CV865978	single nucleotide variant	NM_001378373.1(MBL2):c.408C>T (p.Asn136=)	Mannose-binding lectin deficiency [RCV001102752]\|not provided [RCV004693597]	uncertain significance	10	52768476	52768476	Human	2	alternate_id
28897814	CV865978	single nucleotide variant	NM_001378373.1(MBL2):c.408C>T (p.Asn136=)	Mannose-binding lectin deficiency [RCV001102752]\|not provided [RCV004693597]	uncertain significance	10	52768476	52768477	Human	2	alternate_id
28902448	CV865979	single nucleotide variant	NM_001378373.1(MBL2):c.303G>A (p.Pro101=)	Mannose-binding lectin deficiency [RCV001104671]	uncertain significance	10	52770671	52770671	Human	1	alternate_id
28902453	CV865980	single nucleotide variant	NM_001378373.1(MBL2):c.249G>T (p.Gly83=)	Mannose-binding lectin deficiency [RCV001104672]	uncertain significance	10	52770725	52770725	Human	1	alternate_id
28902460	CV865981	single nucleotide variant	NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser)	Mannose-binding lectin deficiency [RCV001104674]	uncertain significance	10	52771503	52771503	Human	1	alternate_id
28905007	CV865982	single nucleotide variant	NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser)	Mannose-binding lectin deficiency [RCV001105835]	uncertain significance	10	52771527	52771527	Human	1	alternate_id
28905010	CV865983	single nucleotide variant	NM_001378373.1(MBL2):c.99T>G (p.Pro33=)	Mannose-binding lectin deficiency [RCV001105836]	uncertain significance	10	52771537	52771537	Human	1	alternate_id
28905014	CV865984	single nucleotide variant	NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro)	Mannose-binding lectin deficiency [RCV001105837]	uncertain significance	10	52771610	52771610	Human	1	alternate_id
28902456	CV868478	single nucleotide variant	NM_001378373.1(MBL2):c.187+9T>C	Mannose-binding lectin deficiency [RCV001104673]	uncertain significance	10	52771440	52771440	Human	1	alternate_id

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