Lman2l Variant Search Result - Rat Genome Database

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56 records found for search term Lman2l

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405280091	CV3200248	single nucleotide variant	NM_030805.4(LMAN2L):c.*5T>G	LMAN2L-related disorder [RCV003977164]	likely benign	2	96707251	96707251	Human		name , trait , alternate_id
153301247	CV1689095	single nucleotide variant	NM_030805.4(LMAN2L):c.187+4A>C	Intellectual disability, autosomal recessive 52 [RCV002266823]	uncertain significance	2	96739850	96739850	Human	1	name
405691127	CV3227491	single nucleotide variant	NM_030805.4(LMAN2L):c.424+1G>A	Intellectual disability, autosomal recessive 52 [RCV003991836]	uncertain significance	2	96734408	96734408	Human	1	name
126725962	CV1016124	single nucleotide variant	NM_030805.4(LMAN2L):c.424+11C>T	Intellectual disability, autosomal recessive 52 [RCV001331704]	uncertain significance	2	96734398	96734398	Human	1	name
405289211	CV3205047	single nucleotide variant	NM_030805.4(LMAN2L):c.307-10C>T	LMAN2L-related disorder [RCV003961662]	likely benign	2	96734536	96734536	Human		name , trait , alternate_id
15195546	CV777322	single nucleotide variant	NM_030805.4(LMAN2L):c.784+10C>T	not provided [RCV000955952]	benign	2	96711646	96711646	Human		name
153301106	CV1688951	single nucleotide variant	NM_030805.4(LMAN2L):c.785-273A>G	Intellectual disability, autosomal recessive 52 [RCV002266679]	uncertain significance	2	96708106	96708106	Human	1	name
153346844	CV1694233	single nucleotide variant	NM_030805.4(LMAN2L):c.508-1102C>T	Neurodevelopmental disorder [RCV002277649]	uncertain significance	2	96713127	96713127	Human	1	name
598230452	CV3981001	single nucleotide variant	NM_030805.4(LMAN2L):c.508-1101G>A	not specified [RCV005362707]	uncertain significance	2	96713126	96713126	Human		name
405265502	CV3185720	single nucleotide variant	NM_030805.4(LMAN2L):c.18A>T (p.Gly6=)	not provided [RCV003886284]	likely benign	2	96740023	96740023	Human		name
126725963	CV1016125	single nucleotide variant	NM_030805.4(LMAN2L):c.46C>A (p.Arg16=)	Intellectual disability, autosomal recessive 52 [RCV001331705]\|not provided [RCV004692550]	uncertain significance	2	96739995	96739995	Human	1	name
243058618	CV2413096	duplication	NM_030805.4(LMAN2L):c.22dup (p.Leu8fs)	not provided [RCV003134072]	uncertain significance	2	96740018	96740019	Human		name
401735220	CV2690818	single nucleotide variant	NM_030805.4(LMAN2L):c.5C>T (p.Ala2Val)	not provided [RCV004696438]\|not specified [RCV004298526]	uncertain significance	2	96740036	96740036	Human		name
329370064	CV2435462	single nucleotide variant	NM_030805.4(LMAN2L):c.23T>A (p.Leu8His)	not specified [RCV004253109]	uncertain significance	2	96740018	96740018	Human		name
401912259	CV2812115	single nucleotide variant	NM_030805.4(LMAN2L):c.294G>A (p.Leu98=)	not provided [RCV003427141]	likely benign	2	96737961	96737961	Human		name
401912262	CV2812117	single nucleotide variant	NM_030805.4(LMAN2L):c.180C>G (p.Pro60=)	not provided [RCV003427143]	likely benign	2	96739861	96739861	Human		name
401912263	CV2812118	single nucleotide variant	NM_030805.4(LMAN2L):c.141G>A (p.Thr47=)	not provided [RCV003427144]	likely benign	2	96739900	96739900	Human		name
126733970	CV1000359	single nucleotide variant	NM_030805.4(LMAN2L):c.867G>A (p.Val289=)	not provided [RCV001311207]	likely benign	2	96707751	96707751	Human		name
401912257	CV2812113	single nucleotide variant	NM_030805.4(LMAN2L):c.651C>T (p.Tyr217=)	not provided [RCV003427139]	likely benign	2	96711882	96711882	Human		name
405258247	CV3203163	single nucleotide variant	NM_030805.4(LMAN2L):c.339G>A (p.Val113=)	LMAN2L-related disorder [RCV003941774]	likely benign	2	96734494	96734494	Human		name , trait , alternate_id
405260321	CV3209144	single nucleotide variant	NM_030805.4(LMAN2L):c.62G>A (p.Arg21Gln)	LMAN2L-related disorder [RCV003943848]	uncertain significance	2	96739979	96739979	Human		name , trait , alternate_id
405289614	CV3220898	single nucleotide variant	NM_030805.4(LMAN2L):c.819A>G (p.Glu273=)	LMAN2L-related disorder [RCV003961857]	likely benign	2	96707799	96707799	Human		name , trait , alternate_id
405809543	CV3287607	single nucleotide variant	NM_030805.4(LMAN2L):c.29C>T (p.Ser10Leu)	not specified [RCV004407569]	uncertain significance	2	96740012	96740012	Human		name
405809545	CV3287608	single nucleotide variant	NM_030805.4(LMAN2L):c.39G>C (p.Gln13His)	not specified [RCV004407570]	uncertain significance	2	96740002	96740002	Human		name
407470763	CV3449172	single nucleotide variant	NM_030805.4(LMAN2L):c.28T>C (p.Ser10Pro)	not specified [RCV004637188]	uncertain significance	2	96740013	96740013	Human		name
15137188	CV747830	single nucleotide variant	NM_030805.4(LMAN2L):c.855C>T (p.Leu285=)	not provided [RCV000921130]	likely benign	2	96707763	96707763	Human		name
15197524	CV747831	single nucleotide variant	NM_030805.4(LMAN2L):c.825A>G (p.Thr275=)	not provided [RCV000911997]	likely benign	2	96707793	96707793	Human		name
15099764	CV763474	single nucleotide variant	NM_030805.4(LMAN2L):c.733C>T (p.Leu245=)	not provided [RCV000936530]	likely benign	2	96711707	96711707	Human		name
11051564	CV226736	single nucleotide variant	NM_030805.4(LMAN2L):c.158G>A (p.Arg53Gln)	Intellectual disability, autosomal recessive 52 [RCV000210447]	pathogenic	2	96739883	96739883	Human	1	name
401912261	CV2812116	single nucleotide variant	NM_030805.4(LMAN2L):c.190G>A (p.Val64Met)	not provided [RCV003427142]	uncertain significance	2	96738065	96738065	Human		name
597623155	CV3693270	single nucleotide variant	NM_030805.4(LMAN2L):c.235A>G (p.Met79Val)	not specified [RCV004936188]	uncertain significance	2	96738020	96738020	Human		name
126725965	CV1016123	single nucleotide variant	NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile)	Intellectual disability, autosomal recessive 52 [RCV001331706]	uncertain significance	2	96711881	96711881	Human	1	name
126731788	CV1019708	single nucleotide variant	NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val)	Intellectual disability, autosomal recessive 52 [RCV001333824]	uncertain significance	2	96711664	96711664	Human	1	name
407424673	CV1688396	deletion	NM_030805.4(LMAN2L):c.1040del (p.Phe347fs)	Intellectual developmental disorder, autosomal dominant 69 [RCV004584231]	pathogenic	2	96707263	96707263	Human	1	name
155645237	CV1708905	single nucleotide variant	NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)	Intellectual disability, autosomal recessive 52 [RCV002291516]	likely pathogenic	2	96711700	96711700	Human	1	name
156122361	CV2241086	single nucleotide variant	NM_030805.4(LMAN2L):c.482A>G (p.Tyr161Cys)	not specified [RCV004104124]	uncertain significance	2	96733544	96733544	Human		name
155961908	CV2254297	single nucleotide variant	NM_030805.4(LMAN2L):c.971T>G (p.Phe324Cys)	not specified [RCV004129963]	uncertain significance	2	96707332	96707332	Human		name
155973301	CV2320990	single nucleotide variant	NM_030805.4(LMAN2L):c.617A>G (p.Asn206Ser)	not specified [RCV004172786]	uncertain significance	2	96711916	96711916	Human		name
401744514	CV2688179	single nucleotide variant	NM_030805.4(LMAN2L):c.646C>T (p.Arg216Cys)	not specified [RCV004305222]	uncertain significance	2	96711887	96711887	Human		name
401781877	CV2689976	single nucleotide variant	NM_030805.4(LMAN2L):c.976G>A (p.Val326Ile)	not specified [RCV004297859]	uncertain significance	2	96707327	96707327	Human		name
401721848	CV2710194	single nucleotide variant	NM_030805.4(LMAN2L):c.731G>T (p.Arg244Leu)	not specified [RCV004317097]	uncertain significance	2	96711709	96711709	Human		name
401858344	CV2774087	single nucleotide variant	NM_030805.4(LMAN2L):c.539A>G (p.Asn180Ser)	not specified [RCV004345684]	uncertain significance	2	96711994	96711994	Human		name
401912258	CV2812114	single nucleotide variant	NM_030805.4(LMAN2L):c.568C>T (p.Arg190Trp)	not provided [RCV003427140]\|not specified [RCV004935329]	uncertain significance	2	96711965	96711965	Human		name
405809547	CV3287609	single nucleotide variant	NM_030805.4(LMAN2L):c.544G>A (p.Gly182Ser)	not specified [RCV004407571]	uncertain significance	2	96711989	96711989	Human		name
405809550	CV3287610	single nucleotide variant	NM_030805.4(LMAN2L):c.658A>G (p.Arg220Gly)	not specified [RCV004407572]	uncertain significance	2	96711875	96711875	Human		name
405809552	CV3287611	single nucleotide variant	NM_030805.4(LMAN2L):c.713T>C (p.Ile238Thr)	not specified [RCV004407573]	uncertain significance	2	96711727	96711727	Human		name
405809554	CV3287612	single nucleotide variant	NM_030805.4(LMAN2L):c.739C>G (p.Arg247Gly)	not specified [RCV004407574]	uncertain significance	2	96711701	96711701	Human		name
405809556	CV3287613	single nucleotide variant	NM_030805.4(LMAN2L):c.952G>A (p.Val318Ile)	not specified [RCV004407575]	uncertain significance	2	96707351	96707351	Human		name
407470759	CV3449171	single nucleotide variant	NM_030805.4(LMAN2L):c.628G>A (p.Asp210Asn)	not specified [RCV004637187]	uncertain significance	2	96711905	96711905	Human		name
407461051	CV3449173	single nucleotide variant	NM_030805.4(LMAN2L):c.834A>T (p.Arg278Ser)	not specified [RCV004634026]	uncertain significance	2	96707784	96707784	Human		name
598237887	CV3981000	single nucleotide variant	NM_030805.4(LMAN2L):c.647G>A (p.Arg216His)	not specified [RCV005364157]	uncertain significance	2	96711886	96711886	Human		name
598261043	CV3981002	single nucleotide variant	NM_030805.4(LMAN2L):c.737C>T (p.Pro246Leu)	not specified [RCV005347751]	uncertain significance	2	96711703	96711703	Human		name
156230600	CV2227527	single nucleotide variant	NM_030805.4(LMAN2L):c.1037G>A (p.Arg346His)	not specified [RCV004092177]	uncertain significance	2	96707266	96707266	Human		name
401740821	CV2680486	single nucleotide variant	NM_030805.4(LMAN2L):c.1031G>A (p.Arg344Gln)	not specified [RCV004291129]	uncertain significance	2	96707272	96707272	Human		name
597623156	CV3693271	single nucleotide variant	NM_030805.4(LMAN2L):c.1000A>G (p.Ile334Val)	not specified [RCV004936189]	uncertain significance	2	96707303	96707303	Human		name
151729716	CV1335416	deletion	NM_030805.4(LMAN2L):c.373_374del (p.Leu125fs)	not specified [RCV001844734]	uncertain significance	2	96734459	96734460	Human		name

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