Dnmbp Variant Search Result - Rat Genome Database

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211 records found for search term Dnmbp

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405282072	CV3216169	single nucleotide variant	NM_015221.4(DNMBP):c.*6C>T	DNMBP-related disorder [RCV003956701]	likely benign	10	99877145	99877145	Human		name , trait , alternate_id
405283657	CV3191784	single nucleotide variant	NM_015221.4(DNMBP):c.*10G>C	DNMBP-related disorder [RCV003921884]	benign	10	99877141	99877141	Human		name , trait , alternate_id
150512442	CV1245453	single nucleotide variant	NM_015221.4(DNMBP):c.3156+7A>G	Cataract 48 [RCV001661463]\|DNMBP-related disorder [RCV003975845]\|not provided [RCV004718948]	benign	10	99894939	99894939	Human	1	name , trait , alternate_id
405271139	CV3218916	single nucleotide variant	NM_015221.4(DNMBP):c.2554+8C>T	DNMBP-related disorder [RCV003971657]	likely benign	10	99907987	99907987	Human		name , trait , alternate_id
405276417	CV3206686	duplication	NM_015221.4(DNMBP):c.2261-4933dup	DNMBP-related disorder [RCV003917125]	likely benign	10	99914078	99914079	Human		name , trait , alternate_id
405294361	CV3214854	single nucleotide variant	NM_015221.4(DNMBP):c.2261-4829A>G	DNMBP-related disorder [RCV003934263]	likely benign	10	99913975	99913975	Human		name , trait , alternate_id
401926717	CV2798737	single nucleotide variant	NM_015221.4(DNMBP):c.2261-21460G>A	DNMBP-related disorder [RCV003406023]	uncertain significance	10	99930606	99930606	Human		name , trait , alternate_id
405286471	CV3192192	single nucleotide variant	NM_015221.4(DNMBP):c.2261-21193G>A	DNMBP-related disorder [RCV003924102]	benign	10	99930339	99930339	Human		name , trait , alternate_id
405293465	CV3192636	single nucleotide variant	NM_015221.4(DNMBP):c.2261-20486G>A	DNMBP-related disorder [RCV003931851]	benign	10	99929632	99929632	Human		name , trait , alternate_id
405276070	CV3193221	single nucleotide variant	NM_015221.4(DNMBP):c.2261-20475C>G	DNMBP-related disorder [RCV003974387]	benign	10	99929621	99929621	Human		name , trait , alternate_id
405277014	CV3193568	single nucleotide variant	NM_015221.4(DNMBP):c.2261-21512C>T	DNMBP-related disorder [RCV003974737]	benign	10	99930658	99930658	Human		name , trait , alternate_id
405280457	CV3195520	single nucleotide variant	NM_015221.4(DNMBP):c.2261-20487C>T	DNMBP-related disorder [RCV003906766]	benign	10	99929633	99929633	Human		name , trait , alternate_id
405284791	CV3197006	single nucleotide variant	NM_015221.4(DNMBP):c.2261-21476T>C	DNMBP-related disorder [RCV003979847]	benign	10	99930622	99930622	Human		name , trait , alternate_id
405272877	CV3210188	single nucleotide variant	NM_015221.4(DNMBP):c.2261-20815A>G	DNMBP-related disorder [RCV003914426]	benign	10	99929961	99929961	Human		name , trait , alternate_id
405287156	CV3210512	single nucleotide variant	NM_015221.4(DNMBP):c.2261-21218G>A	DNMBP-related disorder [RCV003924299]	benign	10	99930364	99930364	Human		name , trait , alternate_id
405290634	CV3207530	single nucleotide variant	NM_015221.4(DNMBP):c.18G>T (p.Val6=)	DNMBP-related disorder [RCV003927107]	likely benign	10	99972107	99972107	Human		name , trait , alternate_id
156136596	CV2364986	single nucleotide variant	NM_015221.4(DNMBP):c.65C>T (p.Pro22Leu)	not specified [RCV004222279]	uncertain significance	10	99972060	99972060	Human		name
401907689	CV2809541	single nucleotide variant	NM_015221.4(DNMBP):c.822G>A (p.Ala274=)	DNMBP-related disorder [RCV003929025]\|not provided [RCV003422802]	likely benign	10	99956652	99956652	Human	1	name , trait , alternate_id
401907691	CV2809542	single nucleotide variant	NM_015221.4(DNMBP):c.83T>C (p.Ile28Thr)	not provided [RCV003422803]	likely benign	10	99972042	99972042	Human		name
405279012	CV3220535	single nucleotide variant	NM_015221.4(DNMBP):c.747C>T (p.Val249=)	DNMBP-related disorder [RCV003976714]	benign	10	99956727	99956727	Human		name , trait , alternate_id
405749869	CV3241070	single nucleotide variant	NM_015221.4(DNMBP):c.46A>G (p.Ser16Gly)	not specified [RCV004381673]	uncertain significance	10	99972079	99972079	Human		name
8626756	CV81900	single nucleotide variant	NM_015221.2(DNMBP):c.792C>T (p.Phe264=)	Malignant melanoma [RCV000061979]	not provided	10	99956682	99956682	Human		name
150512443	CV1245454	single nucleotide variant	NM_015221.4(DNMBP):c.2883C>T (p.Asn961=)	Cataract 48 [RCV001661464]\|DNMBP-related disorder [RCV003975846]\|not provided [RCV004718949]	benign	10	99898123	99898123	Human	1	name , trait , alternate_id
150512444	CV1245455	single nucleotide variant	NM_015221.4(DNMBP):c.1332C>T (p.Pro444=)	Cataract 48 [RCV001661465]\|DNMBP-related disorder [RCV003984041]\|not provided [RCV004718950]	benign	10	99956142	99956142	Human	1	name , trait , alternate_id
401760802	CV2715938	single nucleotide variant	NM_015221.4(DNMBP):c.179C>T (p.Thr60Ile)	not specified [RCV004329042]	uncertain significance	10	99969204	99969204	Human		name
401877017	CV2793318	single nucleotide variant	NM_015221.4(DNMBP):c.259C>A (p.Leu87Ile)	not specified [RCV004362134]	uncertain significance	10	99969124	99969124	Human		name
405269033	CV3199136	single nucleotide variant	NM_015221.4(DNMBP):c.1629C>T (p.Asp543=)	DNMBP-related disorder [RCV003912238]	benign	10	99955845	99955845	Human		name , trait , alternate_id
405274641	CV3208986	single nucleotide variant	NM_015221.4(DNMBP):c.1641C>T (p.Asp547=)	DNMBP-related disorder [RCV003951756]	likely benign	10	99955833	99955833	Human		name , trait , alternate_id
405283845	CV3213427	single nucleotide variant	NM_015221.4(DNMBP):c.2583G>A (p.Glu861=)	DNMBP-related disorder [RCV003922014]	benign	10	99900038	99900038	Human		name , trait , alternate_id
405259125	CV3215270	single nucleotide variant	NM_015221.4(DNMBP):c.243G>T (p.Glu81Asp)	DNMBP-related disorder [RCV003942306]	benign	10	99969140	99969140	Human		name , trait , alternate_id
405261083	CV3216272	single nucleotide variant	NM_015221.4(DNMBP):c.1758G>A (p.Lys586=)	DNMBP-related disorder [RCV003944362]	likely benign	10	99955716	99955716	Human		name , trait , alternate_id
405278569	CV3216680	single nucleotide variant	NM_015221.4(DNMBP):c.1155G>A (p.Pro385=)	DNMBP-related disorder [RCV003954571]	likely benign	10	99956319	99956319	Human		name , trait , alternate_id
405272293	CV3221620	single nucleotide variant	NM_015221.4(DNMBP):c.2514G>A (p.Ser838=)	DNMBP-related disorder [RCV003972125]	benign	10	99908035	99908035	Human		name , trait , alternate_id
405748924	CV3241045	single nucleotide variant	NM_015221.4(DNMBP):c.101T>C (p.Val34Ala)	not specified [RCV004381648]	uncertain significance	10	99972024	99972024	Human		name
407505348	CV3437686	single nucleotide variant	NM_015221.4(DNMBP):c.223T>C (p.Cys75Arg)	not specified [RCV004624330]	uncertain significance	10	99969160	99969160	Human		name
407505367	CV3437692	single nucleotide variant	NM_015221.4(DNMBP):c.242A>G (p.Glu81Gly)	not specified [RCV004624336]	uncertain significance	10	99969141	99969141	Human		name
150512436	CV1245450	single nucleotide variant	NM_015221.4(DNMBP):c.4320C>T (p.Ser1440=)	Cataract 48 [RCV001661460]\|DNMBP-related disorder [RCV003975843]\|not provided [RCV004718945]	benign	10	99880039	99880039	Human	1	name , trait , alternate_id
150512438	CV1245452	single nucleotide variant	NM_015221.4(DNMBP):c.3744A>G (p.Pro1248=)	Cataract 48 [RCV001661462]\|DNMBP-related disorder [RCV003984040]\|not provided [RCV004718947]	benign	10	99885741	99885741	Human	1	name , trait , alternate_id
155990213	CV2276436	single nucleotide variant	NM_015221.4(DNMBP):c.338G>A (p.Arg113Gln)	not specified [RCV004144162]	uncertain significance	10	99957136	99957136	Human		name
155983868	CV2344356	single nucleotide variant	NM_015221.4(DNMBP):c.704T>G (p.Ile235Arg)	not specified [RCV004195112]	likely benign	10	99956770	99956770	Human		name
329357177	CV2431269	single nucleotide variant	NM_015221.4(DNMBP):c.334G>A (p.Ala112Thr)	not specified [RCV004250603]	uncertain significance	10	99957140	99957140	Human		name
329353251	CV2469040	single nucleotide variant	NM_015221.4(DNMBP):c.721G>A (p.Glu241Lys)	not specified [RCV004274286]	uncertain significance	10	99956753	99956753	Human		name
401745589	CV2693286	single nucleotide variant	NM_015221.4(DNMBP):c.337C>T (p.Arg113Trp)	not specified [RCV004295253]	uncertain significance	10	99957137	99957137	Human		name
401723539	CV2724939	single nucleotide variant	NM_015221.4(DNMBP):c.563A>C (p.Glu188Ala)	not specified [RCV004319703]	uncertain significance	10	99956911	99956911	Human		name
401878573	CV2754697	single nucleotide variant	NM_015221.4(DNMBP):c.962C>T (p.Pro321Leu)	not specified [RCV004339366]	uncertain significance	10	99956512	99956512	Human		name
405279973	CV3191610	single nucleotide variant	NM_015221.4(DNMBP):c.4725G>A (p.Glu1575=)	DNMBP-related disorder [RCV003919754]	benign	10	99877160	99877160	Human		name , trait , alternate_id
405284500	CV3196914	single nucleotide variant	NM_015221.4(DNMBP):c.3708C>T (p.Thr1236=)	DNMBP-related disorder [RCV003979768]	benign	10	99885777	99885777	Human		name , trait , alternate_id
405280392	CV3200758	single nucleotide variant	NM_015221.4(DNMBP):c.4434C>T (p.Ser1478=)	DNMBP-related disorder [RCV003977383]	benign	10	99879925	99879925	Human		name , trait , alternate_id
405267089	CV3202186	single nucleotide variant	NM_015221.4(DNMBP):c.4500G>A (p.Pro1500=)	DNMBP-related disorder [RCV003911655]	benign	10	99879859	99879859	Human		name , trait , alternate_id
405260727	CV3204313	single nucleotide variant	NM_015221.4(DNMBP):c.3027G>A (p.Lys1009=)	DNMBP-related disorder [RCV003944149]	likely benign	10	99896291	99896291	Human		name , trait , alternate_id
405255825	CV3208328	single nucleotide variant	NM_015221.4(DNMBP):c.4101C>T (p.His1367=)	DNMBP-related disorder [RCV003939445]	likely benign	10	99880258	99880258	Human		name , trait , alternate_id
405282880	CV3216896	single nucleotide variant	NM_015221.4(DNMBP):c.3318C>T (p.Pro1106=)	DNMBP-related disorder [RCV003979060]	benign	10	99886600	99886600	Human		name , trait , alternate_id
405261363	CV3221499	single nucleotide variant	NM_015221.4(DNMBP):c.793G>A (p.Glu265Lys)	DNMBP-related disorder [RCV003966975]	likely benign	10	99956681	99956681	Human		name , trait , alternate_id
405749924	CV3241063	single nucleotide variant	NM_015221.4(DNMBP):c.391C>T (p.Arg131Trp)	not specified [RCV004381666]	uncertain significance	10	99957083	99957083	Human		name
405749918	CV3241064	single nucleotide variant	NM_015221.4(DNMBP):c.401A>C (p.His134Pro)	not specified [RCV004381667]	uncertain significance	10	99957073	99957073	Human		name
405749862	CV3241071	single nucleotide variant	NM_015221.4(DNMBP):c.961C>A (p.Pro321Thr)	not specified [RCV004381674]	uncertain significance	10	99956513	99956513	Human		name
405677592	CV3308088	deletion	NM_015221.4(DNMBP):c.1442del (p.Gly481fs)	Cataract 48 [RCV004442737]	likely pathogenic	10	99956032	99956032	Human	1	name
407505364	CV3437691	single nucleotide variant	NM_015221.4(DNMBP):c.941A>C (p.Glu314Ala)	not specified [RCV004624335]	uncertain significance	10	99956533	99956533	Human		name
597733962	CV3659321	single nucleotide variant	NM_015221.4(DNMBP):c.610C>T (p.Pro204Ser)	not specified [RCV004920180]	uncertain significance	10	99956864	99956864	Human		name
597660378	CV3659324	single nucleotide variant	NM_015221.4(DNMBP):c.371T>C (p.Leu124Pro)	not specified [RCV004911788]	uncertain significance	10	99957103	99957103	Human		name
598164691	CV3953697	single nucleotide variant	NM_015221.4(DNMBP):c.404C>T (p.Ser135Phe)	not specified [RCV005329564]	uncertain significance	10	99957070	99957070	Human		name
14689783	CV615270	single nucleotide variant	NM_015221.4(DNMBP):c.811C>T (p.Arg271Ter)	Cataract 48 [RCV000770779]	pathogenic	10	99956663	99956663	Human	1	name
8633460	CV88675	single nucleotide variant	NM_015221.2(DNMBP):c.971C>T (p.Ser324Phe)	Malignant melanoma [RCV000068768]	not provided	10	99956503	99956503	Human		name
150505657	CV1255529	single nucleotide variant	NM_015221.4(DNMBP):c.1119C>G (p.Asn373Lys)	DNMBP-related disorder [RCV003975901]\|not provided [RCV001677976]	benign	10	99956355	99956355	Human	1	name , trait , alternate_id
153346128	CV1691574	single nucleotide variant	NM_015221.4(DNMBP):c.1232G>A (p.Gly411Asp)	Cataract 48 [RCV002273057]	uncertain significance	10	99956242	99956242	Human	1	name
156314963	CV2196722	single nucleotide variant	NM_015221.4(DNMBP):c.1978C>T (p.Pro660Ser)	not specified [RCV004069406]	uncertain significance	10	99955496	99955496	Human		name
156329062	CV2213756	single nucleotide variant	NM_015221.4(DNMBP):c.2191A>G (p.Thr731Ala)	not specified [RCV004089823]	uncertain significance	10	99955283	99955283	Human		name
155923542	CV2215701	single nucleotide variant	NM_015221.4(DNMBP):c.2497A>G (p.Met833Val)	not specified [RCV004091228]	uncertain significance	10	99908052	99908052	Human		name
156388362	CV2231802	single nucleotide variant	NM_015221.4(DNMBP):c.1289A>G (p.Tyr430Cys)	not specified [RCV004098612]	uncertain significance	10	99956185	99956185	Human		name
156065384	CV2287346	single nucleotide variant	NM_015221.4(DNMBP):c.1151C>A (p.Pro384His)	not specified [RCV004146966]	uncertain significance	10	99956323	99956323	Human		name
156018132	CV2302748	single nucleotide variant	NM_015221.4(DNMBP):c.1310A>G (p.His437Arg)	not specified [RCV004162673]	uncertain significance	10	99956164	99956164	Human		name
156273290	CV2323579	single nucleotide variant	NM_015221.4(DNMBP):c.2957T>C (p.Met986Thr)	not specified [RCV004165772]	uncertain significance	10	99896361	99896361	Human		name
156088381	CV2337178	single nucleotide variant	NM_015221.4(DNMBP):c.1132G>A (p.Glu378Lys)	not specified [RCV004192936]	uncertain significance	10	99956342	99956342	Human		name
156104570	CV2352463	single nucleotide variant	NM_015221.4(DNMBP):c.2243A>G (p.Glu748Gly)	not specified [RCV004202971]	uncertain significance	10	99955231	99955231	Human		name
155933091	CV2372216	single nucleotide variant	NM_015221.4(DNMBP):c.2723G>T (p.Gly908Val)	not specified [RCV004216995]	uncertain significance	10	99898283	99898283	Human		name
155908077	CV2387216	single nucleotide variant	NM_015221.4(DNMBP):c.2950A>T (p.Ser984Cys)	not specified [RCV004238315]	uncertain significance	10	99896368	99896368	Human		name
156099541	CV2392875	single nucleotide variant	NM_015221.4(DNMBP):c.2108G>A (p.Arg703Gln)	not specified [RCV004247227]	likely benign	10	99955366	99955366	Human		name
156249054	CV2394043	single nucleotide variant	NM_015221.4(DNMBP):c.1268A>G (p.Asn423Ser)	not specified [RCV004236260]	likely benign	10	99956206	99956206	Human		name
156005628	CV2401113	single nucleotide variant	NM_015221.4(DNMBP):c.1693G>A (p.Gly565Arg)	not specified [RCV004245683]	uncertain significance	10	99955781	99955781	Human		name
329369628	CV2424869	single nucleotide variant	NM_015221.4(DNMBP):c.1154C>G (p.Pro385Arg)	not specified [RCV004248753]	likely benign	10	99956320	99956320	Human		name
329390089	CV2441272	single nucleotide variant	NM_015221.4(DNMBP):c.2041A>G (p.Met681Val)	not specified [RCV004264003]	likely benign	10	99955433	99955433	Human		name
329391404	CV2448522	single nucleotide variant	NM_015221.4(DNMBP):c.1949C>T (p.Ser650Leu)	not specified [RCV004259207]	uncertain significance	10	99955525	99955525	Human		name
329367523	CV2456888	single nucleotide variant	NM_015221.4(DNMBP):c.1657A>C (p.Thr553Pro)	not specified [RCV004270847]	uncertain significance	10	99955817	99955817	Human		name
401727981	CV2678636	single nucleotide variant	NM_015221.4(DNMBP):c.1928G>A (p.Arg643His)	not specified [RCV004294680]	uncertain significance	10	99955546	99955546	Human		name
401775420	CV2710561	single nucleotide variant	NM_015221.4(DNMBP):c.1000G>T (p.Val334Leu)	not specified [RCV004319482]	uncertain significance	10	99956474	99956474	Human		name
401766144	CV2718030	single nucleotide variant	NM_015221.4(DNMBP):c.2189A>G (p.Glu730Gly)	not specified [RCV004315757]	uncertain significance	10	99955285	99955285	Human		name
401771737	CV2722928	single nucleotide variant	NM_015221.4(DNMBP):c.2594C>A (p.Thr865Lys)	not specified [RCV004327110]	uncertain significance	10	99900027	99900027	Human		name
401872074	CV2754257	single nucleotide variant	NM_015221.4(DNMBP):c.1769G>A (p.Arg590Gln)	not specified [RCV004334441]	uncertain significance	10	99955705	99955705	Human		name
401883507	CV2754388	single nucleotide variant	NM_015221.4(DNMBP):c.1535C>T (p.Ser512Phe)	not specified [RCV004336609]	uncertain significance	10	99955939	99955939	Human		name
401861671	CV2756404	single nucleotide variant	NM_015221.4(DNMBP):c.1318T>G (p.Ser440Ala)	not specified [RCV004342945]	uncertain significance	10	99956156	99956156	Human		name
401863265	CV2765634	single nucleotide variant	NM_015221.4(DNMBP):c.2716G>A (p.Glu906Lys)	not specified [RCV004335646]	uncertain significance	10	99898747	99898747	Human		name
401878103	CV2786894	single nucleotide variant	NM_015221.4(DNMBP):c.1883A>T (p.Asp628Val)	not specified [RCV004366045]	uncertain significance	10	99955591	99955591	Human		name
401892718	CV2791714	single nucleotide variant	NM_015221.4(DNMBP):c.1874T>C (p.Leu625Ser)	not specified [RCV004353047]	uncertain significance	10	99955600	99955600	Human		name
405280539	CV3195546	single nucleotide variant	NM_015221.4(DNMBP):c.1982A>G (p.Lys661Arg)	DNMBP-related disorder [RCV003906791]	benign	10	99955492	99955492	Human	1	name , trait , alternate_id
405280745	CV3195720	single nucleotide variant	NM_015221.4(DNMBP):c.2742C>G (p.Asn914Lys)	DNMBP-related disorder [RCV003906953]	benign	10	99898264	99898264	Human		name , trait , alternate_id
405268827	CV3199102	single nucleotide variant	NM_015221.4(DNMBP):c.1778C>T (p.Ser593Leu)	DNMBP-related disorder [RCV003912206]	likely benign	10	99955696	99955696	Human		name , trait , alternate_id
405291600	CV3205900	single nucleotide variant	NM_015221.4(DNMBP):c.2459C>T (p.Pro820Leu)	DNMBP-related disorder [RCV003964015]	benign	10	99908090	99908090	Human		name , trait , alternate_id
405279578	CV3206407	single nucleotide variant	NM_015221.4(DNMBP):c.2492T>C (p.Met831Thr)	DNMBP-related disorder [RCV003954946]	benign	10	99908057	99908057	Human		name , trait , alternate_id
405748930	CV3241046	single nucleotide variant	NM_015221.4(DNMBP):c.1220A>G (p.Glu407Gly)	not specified [RCV004381649]	uncertain significance	10	99956254	99956254	Human		name
405748939	CV3241047	single nucleotide variant	NM_015221.4(DNMBP):c.1498C>T (p.His500Tyr)	not specified [RCV004381650]	uncertain significance	10	99955976	99955976	Human		name
405748953	CV3241049	single nucleotide variant	NM_015221.4(DNMBP):c.1817A>G (p.Lys606Arg)	not specified [RCV004381652]	uncertain significance	10	99955657	99955657	Human		name
405748958	CV3241050	single nucleotide variant	NM_015221.4(DNMBP):c.1927C>T (p.Arg643Cys)	not specified [RCV004381653]	uncertain significance	10	99955547	99955547	Human		name
405748972	CV3241052	single nucleotide variant	NM_015221.4(DNMBP):c.2000G>A (p.Arg667His)	not specified [RCV004381655]	likely benign	10	99955474	99955474	Human		name
405748980	CV3241053	single nucleotide variant	NM_015221.4(DNMBP):c.2222A>G (p.Asn741Ser)	not specified [RCV004381656]	uncertain significance	10	99955252	99955252	Human		name
405748984	CV3241054	single nucleotide variant	NM_015221.4(DNMBP):c.2438C>T (p.Pro813Leu)	not specified [RCV004381657]	uncertain significance	10	99908969	99908969	Human		name
405749979	CV3241055	single nucleotide variant	NM_015221.4(DNMBP):c.2668C>G (p.Gln890Glu)	not specified [RCV004381658]	uncertain significance	10	99899953	99899953	Human		name
405749971	CV3241056	single nucleotide variant	NM_015221.4(DNMBP):c.2842G>C (p.Val948Leu)	not specified [RCV004381659]	uncertain significance	10	99898164	99898164	Human		name
405749966	CV3241057	single nucleotide variant	NM_015221.4(DNMBP):c.2890A>G (p.Ile964Val)	not specified [RCV004381660]	uncertain significance	10	99898116	99898116	Human		name
405749958	CV3241058	single nucleotide variant	NM_015221.4(DNMBP):c.2933G>A (p.Arg978His)	not specified [RCV004381661]	uncertain significance	10	99896385	99896385	Human		name
407505336	CV3437682	single nucleotide variant	NM_015221.4(DNMBP):c.1841G>A (p.Arg614His)	not specified [RCV004624326]	uncertain significance	10	99955633	99955633	Human		name
407505355	CV3437688	single nucleotide variant	NM_015221.4(DNMBP):c.1113C>A (p.Asp371Glu)	not specified [RCV004624332]	uncertain significance	10	99956361	99956361	Human		name
407505358	CV3437689	single nucleotide variant	NM_015221.4(DNMBP):c.2781G>T (p.Met927Ile)	not specified [RCV004624333]	uncertain significance	10	99898225	99898225	Human		name
597660317	CV3659311	single nucleotide variant	NM_015221.4(DNMBP):c.2923C>T (p.Leu975Phe)	not specified [RCV004911777]	uncertain significance	10	99896395	99896395	Human		name
597660321	CV3659312	single nucleotide variant	NM_015221.4(DNMBP):c.1616A>T (p.His539Leu)	not specified [RCV004911778]	likely benign	10	99955858	99955858	Human		name
597660337	CV3659315	single nucleotide variant	NM_015221.4(DNMBP):c.1595T>G (p.Leu532Arg)	not specified [RCV004911781]	uncertain significance	10	99955879	99955879	Human		name
597660348	CV3659318	single nucleotide variant	NM_015221.4(DNMBP):c.1838C>G (p.Pro613Arg)	not specified [RCV004911783]	uncertain significance	10	99955636	99955636	Human		name
597660354	CV3659319	single nucleotide variant	NM_015221.4(DNMBP):c.1283A>G (p.Gln428Arg)	not specified [RCV004911784]	uncertain significance	10	99956191	99956191	Human		name
597660365	CV3659322	single nucleotide variant	NM_015221.4(DNMBP):c.2212T>C (p.Cys738Arg)	not specified [RCV004911786]	uncertain significance	10	99955262	99955262	Human		name
597660371	CV3659323	single nucleotide variant	NM_015221.4(DNMBP):c.1838C>T (p.Pro613Leu)	not specified [RCV004911787]	uncertain significance	10	99955636	99955636	Human		name
597733968	CV3659325	single nucleotide variant	NM_015221.4(DNMBP):c.2726G>A (p.Cys909Tyr)	not specified [RCV004920181]	uncertain significance	10	99898280	99898280	Human		name
597733975	CV3659326	single nucleotide variant	NM_015221.4(DNMBP):c.1033G>A (p.Glu345Lys)	not specified [RCV004920182]	likely benign	10	99956441	99956441	Human		name
597660385	CV3659327	single nucleotide variant	NM_015221.4(DNMBP):c.2312C>G (p.Ser771Cys)	not specified [RCV004911789]	uncertain significance	10	99909095	99909095	Human		name
597660391	CV3659328	single nucleotide variant	NM_015221.4(DNMBP):c.2267C>T (p.Thr756Met)	not specified [RCV004911790]	uncertain significance	10	99909140	99909140	Human		name
597660398	CV3659329	single nucleotide variant	NM_015221.4(DNMBP):c.1549A>G (p.Ile517Val)	not specified [RCV004911791]	likely benign	10	99955925	99955925	Human		name
598164670	CV3953694	single nucleotide variant	NM_015221.4(DNMBP):c.1022C>T (p.Thr341Ile)	not specified [RCV005329561]	uncertain significance	10	99956452	99956452	Human		name
598164707	CV3953699	single nucleotide variant	NM_015221.4(DNMBP):c.1724G>A (p.Arg575His)	not specified [RCV005329566]	uncertain significance	10	99955750	99955750	Human		name
598164722	CV3964223	single nucleotide variant	NM_015221.4(DNMBP):c.2425C>T (p.Arg809Trp)	not specified [RCV005329568]	uncertain significance	10	99908982	99908982	Human		name
598164729	CV3964224	single nucleotide variant	NM_015221.4(DNMBP):c.1580C>T (p.Pro527Leu)	not specified [RCV005329569]	likely benign	10	99955894	99955894	Human		name
598164744	CV3964226	single nucleotide variant	NM_015221.4(DNMBP):c.1154C>T (p.Pro385Leu)	not specified [RCV005329571]	uncertain significance	10	99956320	99956320	Human		name
598164758	CV3964228	single nucleotide variant	NM_015221.4(DNMBP):c.2009G>C (p.Cys670Ser)	not specified [RCV005329573]	uncertain significance	10	99955465	99955465	Human		name
598164773	CV3964230	single nucleotide variant	NM_015221.4(DNMBP):c.2183G>A (p.Arg728Lys)	not specified [RCV005329575]	uncertain significance	10	99955291	99955291	Human		name
598164781	CV3964231	single nucleotide variant	NM_015221.4(DNMBP):c.1915G>C (p.Val639Leu)	not specified [RCV005329576]	uncertain significance	10	99955559	99955559	Human		name
598164812	CV3964236	single nucleotide variant	NM_015221.4(DNMBP):c.1936C>T (p.Pro646Ser)	not specified [RCV005329581]	uncertain significance	10	99955538	99955538	Human		name
598164818	CV3964237	single nucleotide variant	NM_015221.4(DNMBP):c.1466T>C (p.Val489Ala)	not specified [RCV005329582]	uncertain significance	10	99956008	99956008	Human		name
598164842	CV3964241	single nucleotide variant	NM_015221.4(DNMBP):c.2305T>C (p.Ser769Pro)	not specified [RCV005329586]	uncertain significance	10	99909102	99909102	Human		name
598164849	CV3964242	single nucleotide variant	NM_015221.4(DNMBP):c.2924T>G (p.Leu975Arg)	not specified [RCV005329587]	uncertain significance	10	99896394	99896394	Human		name
126914092	CV1037998	single nucleotide variant	NM_015221.4(DNMBP):c.4301G>A (p.Cys1434Tyr)	not provided [RCV001357955]\|not specified [RCV004034491]	uncertain significance	10	99880058	99880058	Human		name
126913114	CV1037999	single nucleotide variant	NM_015221.4(DNMBP):c.3815A>C (p.Gln1272Pro)	not provided [RCV001357079]\|not specified [RCV004034478]	uncertain significance	10	99884193	99884193	Human		name
150512437	CV1245451	single nucleotide variant	NM_015221.4(DNMBP):c.4239T>G (p.Cys1413Trp)	Cataract 48 [RCV001661461]\|DNMBP-related disorder [RCV003975844]\|not provided [RCV004718946]	benign	10	99880120	99880120	Human	1	name , trait , alternate_id
155978962	CV2215122	single nucleotide variant	NM_015221.4(DNMBP):c.4045C>G (p.Arg1349Gly)	not specified [RCV004084879]	uncertain significance	10	99880314	99880314	Human		name
155935705	CV2221801	single nucleotide variant	NM_015221.4(DNMBP):c.3472G>A (p.Glu1158Lys)	not specified [RCV004102833]	uncertain significance	10	99886446	99886446	Human		name
156125505	CV2237603	single nucleotide variant	NM_015221.4(DNMBP):c.4681G>C (p.Gly1561Arg)	not specified [RCV004106538]	uncertain significance	10	99877204	99877204	Human		name
156088623	CV2241413	single nucleotide variant	NM_015221.4(DNMBP):c.4538A>G (p.Glu1513Gly)	not specified [RCV004104330]	uncertain significance	10	99879821	99879821	Human		name
155987247	CV2248065	single nucleotide variant	NM_015221.4(DNMBP):c.3212A>G (p.Glu1071Gly)	not specified [RCV004115344]	uncertain significance	10	99888898	99888898	Human		name
155987335	CV2259460	single nucleotide variant	NM_015221.4(DNMBP):c.3818C>T (p.Ser1273Leu)	not specified [RCV004122664]	uncertain significance	10	99884190	99884190	Human		name
156171905	CV2267788	single nucleotide variant	NM_015221.4(DNMBP):c.4638A>T (p.Lys1546Asn)	not specified [RCV004134313]	uncertain significance	10	99877247	99877247	Human		name
155961364	CV2311899	single nucleotide variant	NM_015221.4(DNMBP):c.3914C>T (p.Ser1305Leu)	not specified [RCV004170730]	uncertain significance	10	99884094	99884094	Human		name
156061820	CV2320944	single nucleotide variant	NM_015221.4(DNMBP):c.3910G>A (p.Val1304Ile)	not specified [RCV004172748]	uncertain significance	10	99884098	99884098	Human		name
156062813	CV2321027	single nucleotide variant	NM_015221.4(DNMBP):c.3397A>G (p.Asn1133Asp)	not specified [RCV004172817]	uncertain significance	10	99886521	99886521	Human		name
156062373	CV2323241	single nucleotide variant	NM_015221.4(DNMBP):c.3067T>G (p.Phe1023Val)	not specified [RCV004187630]	uncertain significance	10	99895035	99895035	Human		name
156182532	CV2327903	single nucleotide variant	NM_015221.4(DNMBP):c.4588A>G (p.Asn1530Asp)	not specified [RCV004179226]	uncertain significance	10	99877297	99877297	Human		name
155904707	CV2349552	single nucleotide variant	NM_015221.4(DNMBP):c.3714C>G (p.Phe1238Leu)	not specified [RCV004203984]	uncertain significance	10	99885771	99885771	Human		name
156048239	CV2382636	single nucleotide variant	NM_015221.4(DNMBP):c.3881G>A (p.Arg1294Gln)	not specified [RCV004232958]	uncertain significance	10	99884127	99884127	Human		name
155908803	CV2387445	single nucleotide variant	NM_015221.4(DNMBP):c.3880C>T (p.Arg1294Trp)	not specified [RCV004240310]	uncertain significance	10	99884128	99884128	Human		name
155962206	CV2388185	single nucleotide variant	NM_015221.4(DNMBP):c.3461G>A (p.Arg1154Gln)	not specified [RCV004234647]	uncertain significance	10	99886457	99886457	Human		name
156222119	CV2399673	single nucleotide variant	NM_015221.4(DNMBP):c.4435G>A (p.Val1479Ile)	not specified [RCV004245492]	uncertain significance	10	99879924	99879924	Human		name
329370180	CV2435501	single nucleotide variant	NM_015221.4(DNMBP):c.3890A>G (p.Asn1297Ser)	not specified [RCV004253145]	uncertain significance	10	99884118	99884118	Human		name
329377235	CV2435854	single nucleotide variant	NM_015221.4(DNMBP):c.3758C>G (p.Thr1253Ser)	not specified [RCV004255090]	uncertain significance	10	99885727	99885727	Human		name
329400087	CV2440530	single nucleotide variant	NM_015221.4(DNMBP):c.4060G>A (p.Asp1354Asn)	not specified [RCV004256447]	uncertain significance	10	99880299	99880299	Human		name
329401034	CV2446060	single nucleotide variant	NM_015221.4(DNMBP):c.3301C>T (p.Arg1101Trp)	not specified [RCV004270625]	uncertain significance	10	99886617	99886617	Human		name
329398597	CV2465112	single nucleotide variant	NM_015221.4(DNMBP):c.3734C>T (p.Thr1245Ile)	not specified [RCV004286836]	uncertain significance	10	99885751	99885751	Human		name
401739642	CV2684129	single nucleotide variant	NM_015221.4(DNMBP):c.3543C>G (p.Asn1181Lys)	not specified [RCV004288807]	uncertain significance	10	99886375	99886375	Human		name
401727031	CV2684440	single nucleotide variant	NM_015221.4(DNMBP):c.3453G>T (p.Gln1151His)	not specified [RCV004291514]	uncertain significance	10	99886465	99886465	Human		name
401761624	CV2699363	single nucleotide variant	NM_015221.4(DNMBP):c.3428A>T (p.Asp1143Val)	not specified [RCV004305947]	uncertain significance	10	99886490	99886490	Human		name
401753479	CV2722483	single nucleotide variant	NM_015221.4(DNMBP):c.4445G>A (p.Arg1482Gln)	not specified [RCV004322871]	uncertain significance	10	99879914	99879914	Human		name
401893603	CV2759822	single nucleotide variant	NM_015221.4(DNMBP):c.4388C>T (p.Pro1463Leu)	not specified [RCV004343257]	likely benign	10	99879971	99879971	Human		name
401889051	CV2761707	single nucleotide variant	NM_015221.4(DNMBP):c.3370C>T (p.Arg1124Cys)	not specified [RCV004337322]	uncertain significance	10	99886548	99886548	Human		name
401866493	CV2762661	single nucleotide variant	NM_015221.4(DNMBP):c.3224G>A (p.Arg1075Gln)	not specified [RCV004340223]	uncertain significance	10	99888886	99888886	Human		name
401883887	CV2764711	single nucleotide variant	NM_015221.4(DNMBP):c.3830G>A (p.Arg1277Gln)	not specified [RCV004334827]	uncertain significance	10	99884178	99884178	Human		name
401872803	CV2776225	single nucleotide variant	NM_015221.4(DNMBP):c.3829C>T (p.Arg1277Trp)	not specified [RCV004353594]	uncertain significance	10	99884179	99884179	Human		name
401888244	CV2788188	single nucleotide variant	NM_015221.4(DNMBP):c.4358C>T (p.Ala1453Val)	not specified [RCV004352803]	uncertain significance	10	99880001	99880001	Human		name
401907688	CV2809540	single nucleotide variant	NM_015221.4(DNMBP):c.3814C>T (p.Gln1272Ter)	not provided [RCV003422801]	uncertain significance	10	99884194	99884194	Human		name
405292535	CV3192489	single nucleotide variant	NM_015221.4(DNMBP):c.3302G>A (p.Arg1101Gln)	DNMBP-related disorder [RCV003929747]	benign	10	99886616	99886616	Human		name , trait , alternate_id
405294137	CV3203491	single nucleotide variant	NM_015221.4(DNMBP):c.4448A>G (p.Asn1483Ser)	DNMBP-related disorder [RCV003934021]	likely benign	10	99879911	99879911	Human		name , trait , alternate_id
405291240	CV3215209	single nucleotide variant	NM_015221.4(DNMBP):c.3209T>C (p.Met1070Thr)	DNMBP-related disorder [RCV003927395]	likely benign	10	99888901	99888901	Human		name , trait , alternate_id
405749944	CV3241060	single nucleotide variant	NM_015221.4(DNMBP):c.3223C>T (p.Arg1075Trp)	not specified [RCV004381663]	uncertain significance	10	99888887	99888887	Human		name
405749935	CV3241061	single nucleotide variant	NM_015221.4(DNMBP):c.3617C>T (p.Ser1206Leu)	not specified [RCV004381664]	uncertain significance	10	99886301	99886301	Human		name
405749912	CV3241065	single nucleotide variant	NM_015221.4(DNMBP):c.4058C>G (p.Ser1353Cys)	not specified [RCV004381668]	uncertain significance	10	99880301	99880301	Human		name
405749904	CV3241066	single nucleotide variant	NM_015221.4(DNMBP):c.4127G>A (p.Arg1376His)	not specified [RCV004381669]	uncertain significance	10	99880232	99880232	Human		name
405749896	CV3241067	single nucleotide variant	NM_015221.4(DNMBP):c.4354G>C (p.Val1452Leu)	not specified [RCV004381670]	uncertain significance	10	99880005	99880005	Human		name
405749888	CV3241068	single nucleotide variant	NM_015221.4(DNMBP):c.4468G>A (p.Val1490Ile)	not specified [RCV004381671]	uncertain significance	10	99879891	99879891	Human		name
405749878	CV3241069	single nucleotide variant	NM_015221.4(DNMBP):c.4680C>A (p.Asn1560Lys)	not specified [RCV004381672]	uncertain significance	10	99877205	99877205	Human		name
407505333	CV3437681	single nucleotide variant	NM_015221.4(DNMBP):c.3005A>G (p.Asn1002Ser)	not specified [RCV004624325]	uncertain significance	10	99896313	99896313	Human		name
407505338	CV3437683	single nucleotide variant	NM_015221.4(DNMBP):c.3977G>A (p.Arg1326His)	not specified [RCV004624327]	uncertain significance	10	99884031	99884031	Human		name
407505341	CV3437684	single nucleotide variant	NM_015221.4(DNMBP):c.3134C>G (p.Ser1045Cys)	not specified [RCV004624328]	uncertain significance	10	99894968	99894968	Human		name
407505345	CV3437685	single nucleotide variant	NM_015221.4(DNMBP):c.4012G>A (p.Val1338Met)	not specified [RCV004624329]	uncertain significance	10	99880347	99880347	Human		name
407505351	CV3437687	single nucleotide variant	NM_015221.4(DNMBP):c.3601T>G (p.Leu1201Val)	not specified [RCV004624331]	uncertain significance	10	99886317	99886317	Human		name
407505360	CV3437690	single nucleotide variant	NM_015221.4(DNMBP):c.3312C>G (p.Ile1104Met)	not specified [RCV004624334]	uncertain significance	10	99886606	99886606	Human		name
597660311	CV3659310	single nucleotide variant	NM_015221.4(DNMBP):c.4553A>G (p.Tyr1518Cys)	not specified [RCV004911776]	uncertain significance	10	99877332	99877332	Human		name
597660326	CV3659313	single nucleotide variant	NM_015221.4(DNMBP):c.3545G>C (p.Cys1182Ser)	not specified [RCV004911779]	uncertain significance	10	99886373	99886373	Human		name
597660332	CV3659314	single nucleotide variant	NM_015221.4(DNMBP):c.3815A>G (p.Gln1272Arg)	not specified [RCV004911780]	uncertain significance	10	99884193	99884193	Human		name
597733955	CV3659316	single nucleotide variant	NM_015221.4(DNMBP):c.4100A>C (p.His1367Pro)	not specified [RCV004920179]	uncertain significance	10	99880259	99880259	Human		name
597660342	CV3659317	single nucleotide variant	NM_015221.4(DNMBP):c.3976C>T (p.Arg1326Cys)	not specified [RCV004911782]	uncertain significance	10	99884032	99884032	Human		name
597660358	CV3659320	single nucleotide variant	NM_015221.4(DNMBP):c.4351G>A (p.Asp1451Asn)	not specified [RCV004911785]	uncertain significance	10	99880008	99880008	Human		name
597733981	CV3659330	single nucleotide variant	NM_015221.4(DNMBP):c.3389A>C (p.Asp1130Ala)	not specified [RCV004920183]	uncertain significance	10	99886529	99886529	Human		name
598164663	CV3953693	single nucleotide variant	NM_015221.4(DNMBP):c.4096G>A (p.Glu1366Lys)	not specified [RCV005329560]	uncertain significance	10	99880263	99880263	Human		name
598164685	CV3953696	single nucleotide variant	NM_015221.4(DNMBP):c.4007G>C (p.Gly1336Ala)	not specified [RCV005329563]	uncertain significance	10	99880352	99880352	Human		name
598164699	CV3953698	single nucleotide variant	NM_015221.4(DNMBP):c.3298G>A (p.Glu1100Lys)	not specified [RCV005329565]	uncertain significance	10	99886620	99886620	Human		name
598164715	CV3964222	single nucleotide variant	NM_015221.4(DNMBP):c.3832G>C (p.Ala1278Pro)	not specified [RCV005329567]	uncertain significance	10	99884176	99884176	Human		name
598164737	CV3964225	single nucleotide variant	NM_015221.4(DNMBP):c.4334G>A (p.Arg1445Lys)	not specified [RCV005329570]	uncertain significance	10	99880025	99880025	Human		name
598164764	CV3964229	single nucleotide variant	NM_015221.4(DNMBP):c.4256G>A (p.Ser1419Asn)	not specified [RCV005329574]	uncertain significance	10	99880103	99880103	Human		name
598164787	CV3964232	single nucleotide variant	NM_015221.4(DNMBP):c.4049G>A (p.Arg1350His)	not specified [RCV005329577]	uncertain significance	10	99880310	99880310	Human		name
598164793	CV3964233	single nucleotide variant	NM_015221.4(DNMBP):c.4186T>C (p.Ser1396Pro)	not specified [RCV005329578]	uncertain significance	10	99880173	99880173	Human		name
598164800	CV3964234	single nucleotide variant	NM_015221.4(DNMBP):c.3116C>A (p.Ser1039Tyr)	not specified [RCV005329579]	uncertain significance	10	99894986	99894986	Human		name
598164806	CV3964235	single nucleotide variant	NM_015221.4(DNMBP):c.3865C>G (p.Leu1289Val)	not specified [RCV005329580]	uncertain significance	10	99884143	99884143	Human		name
598164824	CV3964238	single nucleotide variant	NM_015221.4(DNMBP):c.4206G>C (p.Gln1402His)	not specified [RCV005329583]	uncertain significance	10	99880153	99880153	Human		name
598164830	CV3964239	single nucleotide variant	NM_015221.4(DNMBP):c.4541G>A (p.Gly1514Asp)	not specified [RCV005329584]	uncertain significance	10	99879818	99879818	Human		name
598164836	CV3964240	single nucleotide variant	NM_015221.4(DNMBP):c.3718G>A (p.Glu1240Lys)	not specified [RCV005329585]	uncertain significance	10	99885767	99885767	Human		name
598164855	CV3964243	single nucleotide variant	NM_015221.4(DNMBP):c.4423G>A (p.Val1475Ile)	not specified [RCV005329588]	uncertain significance	10	99879936	99879936	Human		name
14689787	CV615272	deletion	NM_015221.4(DNMBP):c.2852_2855del (p.Thr951fs)	Cataract 48 [RCV000770781]	pathogenic	10	99898151	99898154	Human	1	name
14689785	CV615271	deletion	NM_015221.4(DNMBP):c.2947_2948del (p.Glu982_Asp983insTer)	Cataract 48 [RCV000770780]	pathogenic	10	99896370	99896371	Human	1	name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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