Smarcd1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

89 records found for search term Smarcd1

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150498983	CV1270744	single nucleotide variant	NM_003076.5(SMARCD1):c.178-9C>T	Coffin-Siris syndrome 11 [RCV001810264]\|not provided [RCV001689293]	benign	12	50086152	50086152	Human	1	name
152980618	CV1676027	single nucleotide variant	NM_003076.5(SMARCD1):c.178-5T>G	not provided [RCV002245096]	uncertain significance	12	50086156	50086156	Human		name
616936385	CV4016396	single nucleotide variant	NM_003076.5(SMARCD1):c.177+1G>C	not provided [RCV005415262]	uncertain significance	12	50085547	50085547	Human		name
150506186	CV1213716	single nucleotide variant	NM_003076.5(SMARCD1):c.874-11G>A	not provided [RCV001595972]	benign	12	50090230	50090230	Human		name
150442833	CV1264500	single nucleotide variant	NM_003076.5(SMARCD1):c.655-93T>C	not provided [RCV001679483]	benign	12	50088428	50088428	Human		name
329351804	CV2476535	single nucleotide variant	NM_003076.5(SMARCD1):c.1036-4A>G	not provided [RCV003222767]	likely benign	12	50090489	50090489	Human		name
401828443	CV2743456	single nucleotide variant	NM_003076.5(SMARCD1):c.1134-1G>A	not provided [RCV003326297]	not provided	12	50094436	50094436	Human		name
401929430	CV2806985	single nucleotide variant	NM_003076.5(SMARCD1):c.772-36C>T	not provided [RCV003390233]	benign	12	50089848	50089848	Human		name
405654758	CV3228323	deletion	NM_003076.5(SMARCD1):c.772-12del	not specified [RCV003995058]	likely benign	12	50089871	50089871	Human		name
596926947	CV3536404	single nucleotide variant	NM_003076.5(SMARCD1):c.1393-1G>A	Coffin-Siris syndrome 11 [RCV004789812]	uncertain significance	12	50098713	50098713	Human	1	name
150502752	CV1212311	single nucleotide variant	NM_003076.5(SMARCD1):c.366-119A>G	not provided [RCV001595185]	benign	12	50086502	50086502	Human	2	name
150457475	CV1278631	single nucleotide variant	NM_003076.5(SMARCD1):c.772-221G>C	not provided [RCV001709246]	benign	12	50089663	50089663	Human		name
150475696	CV1271229	single nucleotide variant	NM_003076.5(SMARCD1):c.1269+192G>A	not provided [RCV001696052]	benign	12	50094764	50094764	Human		name
405111052	CV3137250	single nucleotide variant	NM_003076.5(SMARCD1):c.177G>A (p.Pro59=)	not provided [RCV003836213]	likely benign	12	50085546	50085546	Human		name
597627988	CV3600397	single nucleotide variant	NM_003076.5(SMARCD1):c.20T>A (p.Phe7Tyr)	Inborn genetic diseases [RCV004966690]	uncertain significance	12	50085389	50085389	Human	1	name
598238069	CV3918826	single nucleotide variant	NM_003076.5(SMARCD1):c.14C>T (p.Ala5Val)	Inborn genetic diseases [RCV005275772]	uncertain significance	12	50085383	50085383	Human	1	name
155641392	CV1709756	single nucleotide variant	NM_003076.5(SMARCD1):c.825G>C (p.Pro275=)	not provided [RCV002292856]	likely benign	12	50089937	50089937	Human		name
401929427	CV2806981	single nucleotide variant	NM_003076.5(SMARCD1):c.89C>T (p.Pro30Leu)	not provided [RCV003390232]	uncertain significance	12	50085458	50085458	Human		name
401932118	CV2806984	single nucleotide variant	NM_003076.5(SMARCD1):c.609G>A (p.Thr203=)	not provided [RCV003391807]	likely benign	12	50087440	50087440	Human		name
151833934	CV1479214	single nucleotide variant	NM_003076.5(SMARCD1):c.167C>G (p.Ala56Gly)	not provided [RCV002050999]	uncertain significance	12	50085536	50085536	Human		name
155642936	CV1707575	single nucleotide variant	NM_003076.5(SMARCD1):c.142C>G (p.Leu48Val)	Coffin-Siris syndrome 11 [RCV002289036]\|Inborn genetic diseases [RCV003101664]	uncertain significance	12	50085511	50085511	Human	2	name
155798577	CV1862072	single nucleotide variant	NM_003076.5(SMARCD1):c.107C>T (p.Pro36Leu)	Coffin-Siris syndrome 11 [RCV002471475]\|Inborn genetic diseases [RCV004067589]	uncertain significance	12	50085476	50085476	Human	2	name
155799025	CV1862285	single nucleotide variant	NM_003076.5(SMARCD1):c.203G>A (p.Arg68Gln)	Coffin-Siris syndrome 11 [RCV002471689]	likely benign	12	50086186	50086186	Human	1	name
156002385	CV2293305	single nucleotide variant	NM_003076.5(SMARCD1):c.200G>T (p.Ser67Ile)	Inborn genetic diseases [RCV002883381]	uncertain significance	12	50086183	50086183	Human	1	name
329368905	CV2450457	single nucleotide variant	NM_003076.5(SMARCD1):c.130C>T (p.Pro44Ser)	Inborn genetic diseases [RCV003208850]	uncertain significance	12	50085499	50085499	Human	1	name
329350844	CV2477676	single nucleotide variant	NM_003076.5(SMARCD1):c.110C>T (p.Pro37Leu)	not provided [RCV003223788]	uncertain significance	12	50085479	50085479	Human		name
329954256	CV2669492	single nucleotide variant	NM_003076.5(SMARCD1):c.158T>C (p.Met53Thr)	not provided [RCV003232000]	uncertain significance	12	50085527	50085527	Human		name
401914683	CV2830793	duplication	NM_003076.5(SMARCD1):c.449dup (p.Ala152fs)	not provided [RCV003442531]	uncertain significance	12	50086795	50086796	Human		name
404999250	CV2851083	single nucleotide variant	NM_003076.5(SMARCD1):c.253C>T (p.Pro85Ser)	Coffin-Siris syndrome 11 [RCV003493165]	uncertain significance	12	50086236	50086236	Human	1	name
408380890	CV3501329	single nucleotide variant	NM_003076.5(SMARCD1):c.1389C>G (p.Leu463=)	not provided [RCV004727418]	likely benign	12	50096969	50096969	Human		name
408391219	CV3527928	single nucleotide variant	NM_003076.5(SMARCD1):c.278A>G (p.Gln93Arg)	not provided [RCV004775200]	uncertain significance	12	50086261	50086261	Human		name
596921607	CV3535229	single nucleotide variant	NM_003076.5(SMARCD1):c.131C>T (p.Pro44Leu)	not provided [RCV004784788]	uncertain significance	12	50085500	50085500	Human		name
597627982	CV3600395	single nucleotide variant	NM_003076.5(SMARCD1):c.143T>C (p.Leu48Pro)	Inborn genetic diseases [RCV004966688]	uncertain significance	12	50085512	50085512	Human	1	name
597627984	CV3600396	single nucleotide variant	NM_003076.5(SMARCD1):c.226A>G (p.Met76Val)	Inborn genetic diseases [RCV004966689]	uncertain significance	12	50086209	50086209	Human	1	name
598124532	CV3883579	single nucleotide variant	NM_003076.5(SMARCD1):c.220C>A (p.Pro74Thr)	not provided [RCV005235933]	uncertain significance	12	50086203	50086203	Human		name
8634707	CV89927	single nucleotide variant	NM_003076.4(SMARCD1):c.1071C>T (p.Ile357=)	Malignant melanoma [RCV000070024]	not provided	12	50090528	50090528	Human		name
40887913	CV973863	single nucleotide variant	NM_003076.5(SMARCD1):c.148C>G (p.Arg50Gly)	Inborn genetic diseases [RCV001267454]	uncertain significance	12	50085517	50085517	Human	1	name
150435940	CV1241913	duplication	NM_003076.5(SMARCD1):c.1432dup (p.Arg478fs)	Coffin-Siris syndrome 11 [RCV001644552]	pathogenic	12	50098751	50098752	Human	1	name
150531372	CV1301879	single nucleotide variant	NM_003076.5(SMARCD1):c.566C>T (p.Thr189Ile)	not provided [RCV001757096]	uncertain significance	12	50087397	50087397	Human		name
151663675	CV1334141	single nucleotide variant	NM_003076.5(SMARCD1):c.566C>G (p.Thr189Ser)	Coffin-Siris syndrome 11 [RCV001839315]\|Inborn genetic diseases [RCV005278897]\|not provided [RCV004693767]	uncertain significance	12	50087397	50087397	Human	2	name
151864387	CV1336828	single nucleotide variant	NM_003076.5(SMARCD1):c.898C>A (p.Arg300Ser)	not provided [RCV002034864]	uncertain significance	12	50090265	50090265	Human		name
152079972	CV1666879	single nucleotide variant	NM_003076.5(SMARCD1):c.550A>G (p.Ile184Val)	not provided [RCV002211224]	uncertain significance	12	50087381	50087381	Human		name
152042108	CV1669959	single nucleotide variant	NM_003076.5(SMARCD1):c.692G>A (p.Arg231Lys)	not provided [RCV002224861]	uncertain significance	12	50088558	50088558	Human		name
153347882	CV1694931	single nucleotide variant	NM_003076.5(SMARCD1):c.503T>C (p.Ile168Thr)	not provided [RCV002278861]	uncertain significance	12	50086850	50086850	Human		name
155643195	CV1706594	single nucleotide variant	NM_003076.5(SMARCD1):c.494G>A (p.Arg165Gln)	See cases [RCV004584495]\|not provided [RCV003228064]	likely pathogenic\|uncertain significance	12	50086841	50086841	Human		name
155715578	CV1780405	single nucleotide variant	NM_003076.5(SMARCD1):c.763C>G (p.Leu255Val)	not provided [RCV002306009]	uncertain significance	12	50088629	50088629	Human		name
156132387	CV2192853	single nucleotide variant	NM_003076.5(SMARCD1):c.890T>C (p.Leu297Ser)	Coffin-Siris syndrome 11 [RCV002640766]	uncertain significance	12	50090257	50090257	Human	1	name
156361182	CV2269186	single nucleotide variant	NM_003076.5(SMARCD1):c.436G>A (p.Ala146Thr)	Inborn genetic diseases [RCV002812846]	uncertain significance	12	50086783	50086783	Human	1	name
156173656	CV2333734	single nucleotide variant	NM_003076.5(SMARCD1):c.344C>T (p.Ala115Val)	Inborn genetic diseases [RCV002955985]	uncertain significance	12	50086327	50086327	Human	1	name
243054214	CV2418491	single nucleotide variant	NM_003076.5(SMARCD1):c.640C>T (p.Arg214Trp)	not provided [RCV003154499]	uncertain significance	12	50087471	50087471	Human		name
329350904	CV2477734	single nucleotide variant	NM_003076.5(SMARCD1):c.365A>G (p.Asn122Ser)	not provided [RCV003223846]	uncertain significance	12	50086348	50086348	Human		name
329350936	CV2477766	single nucleotide variant	NM_003076.5(SMARCD1):c.877C>G (p.Pro293Ala)	not provided [RCV003223878]	uncertain significance	12	50090244	50090244	Human		name
401798628	CV2742504	single nucleotide variant	NM_003076.5(SMARCD1):c.740A>G (p.Asp247Gly)	Inborn genetic diseases [RCV004334081]\|not provided [RCV003324948]	uncertain significance	12	50088606	50088606	Human	1	name
401915908	CV2795314	single nucleotide variant	NM_003076.5(SMARCD1):c.521G>A (p.Arg174His)	Neurodevelopmental disorder [RCV003389149]	uncertain significance	12	50086868	50086868	Human	1	name
401932115	CV2806982	single nucleotide variant	NM_003076.5(SMARCD1):c.299G>T (p.Arg100Leu)	not provided [RCV003391805]	uncertain significance	12	50086282	50086282	Human		name
401932116	CV2806983	single nucleotide variant	NM_003076.5(SMARCD1):c.336G>T (p.Gln112His)	Coffin-Siris syndrome 11 [RCV003994548]\|not provided [RCV003391806]	benign\|likely benign	12	50086319	50086319	Human	1	name
401916396	CV2831068	single nucleotide variant	NM_003076.5(SMARCD1):c.967A>G (p.Ile323Val)	not provided [RCV003443337]	uncertain significance	12	50090334	50090334	Human		name
407494963	CV3474283	single nucleotide variant	NM_003076.5(SMARCD1):c.557T>C (p.Ile186Thr)	Inborn genetic diseases [RCV004667763]	uncertain significance	12	50087388	50087388	Human	1	name
408390211	CV3519255	single nucleotide variant	NM_003076.5(SMARCD1):c.892G>T (p.Asp298Tyr)	not provided [RCV004762564]	uncertain significance	12	50090259	50090259	Human		name
408390843	CV3521043	single nucleotide variant	NM_003076.5(SMARCD1):c.298C>T (p.Arg100Cys)	not provided [RCV004762865]	uncertain significance	12	50086281	50086281	Human		name
408390702	CV3527689	single nucleotide variant	NM_003076.5(SMARCD1):c.477G>T (p.Gln159His)	not provided [RCV004774957]	uncertain significance	12	50086824	50086824	Human		name
596941194	CV3542416	duplication	NM_003076.5(SMARCD1):c.1463dup (p.Glu489fs)	Coffin-Siris syndrome 11 [RCV004797686]	uncertain significance	12	50098783	50098784	Human	1	name
597656868	CV3731618	single nucleotide variant	NM_003076.5(SMARCD1):c.757A>G (p.Asn253Asp)	not provided [RCV005001799]	uncertain significance	12	50088623	50088623	Human		name
597717094	CV3733316	single nucleotide variant	NM_003076.5(SMARCD1):c.485T>C (p.Met162Thr)	not provided [RCV005052506]	uncertain significance	12	50086832	50086832	Human		name
616935354	CV4009482	single nucleotide variant	NM_003076.5(SMARCD1):c.669A>C (p.Lys223Asn)	not provided [RCV005402654]	uncertain significance	12	50088535	50088535	Human		name
616938233	CV4013096	single nucleotide variant	NM_003076.5(SMARCD1):c.592G>A (p.Glu198Lys)	not provided [RCV005410563]	pathogenic	12	50087423	50087423	Human		name
21404031	CV800930	single nucleotide variant	NM_003076.5(SMARCD1):c.990C>G (p.Asp330Glu)	Coffin-Siris syndrome 11 [RCV001003485]	pathogenic	12	50090357	50090357	Human	1	name
152999342	CV1680010	single nucleotide variant	NM_003076.5(SMARCD1):c.1051C>T (p.Arg351Cys)	Alopecia, androgenetic, 1 [RCV002251689]	likely pathogenic	12	50090508	50090508	Human	1	name
153349854	CV1693210	single nucleotide variant	NM_003076.5(SMARCD1):c.1312C>T (p.Arg438Trp)	not provided [RCV002276285]	uncertain significance	12	50096892	50096892	Human		name
155721088	CV1781288	single nucleotide variant	NM_003076.5(SMARCD1):c.1417C>T (p.Pro473Ser)	not provided [RCV002306364]	uncertain significance	12	50098738	50098738	Human		name
243060815	CV2408761	single nucleotide variant	NM_003076.5(SMARCD1):c.1460C>G (p.Ala487Gly)	Coffin-Siris syndrome 11 [RCV003136891]	uncertain significance	12	50098781	50098781	Human	1	name
401798675	CV2739432	single nucleotide variant	NM_003076.5(SMARCD1):c.1495G>A (p.Val499Met)	not provided [RCV003319080]	uncertain significance	12	50098947	50098947	Human		name
401798775	CV2742565	single nucleotide variant	NM_003076.5(SMARCD1):c.1486T>C (p.Tyr496His)	not provided [RCV003325009]	uncertain significance	12	50098807	50098807	Human		name
405786941	CV3329521	single nucleotide variant	NM_003076.5(SMARCD1):c.1054A>G (p.Met352Val)	Inborn genetic diseases [RCV004459739]	uncertain significance	12	50090511	50090511	Human	1	name
407456316	CV3415858	single nucleotide variant	NM_003076.5(SMARCD1):c.1253C>G (p.Ala418Gly)	not provided [RCV004598735]	uncertain significance	12	50094556	50094556	Human		name
598126438	CV3881914	single nucleotide variant	NM_003076.5(SMARCD1):c.1271T>C (p.Ile424Thr)	Coffin-Siris syndrome 11 [RCV005233466]	likely pathogenic	12	50096851	50096851	Human	1	name
598271350	CV3918824	single nucleotide variant	NM_003076.5(SMARCD1):c.1300C>A (p.Leu434Met)	Inborn genetic diseases [RCV005282369]	uncertain significance	12	50096880	50096880	Human	1	name
598271353	CV3918825	single nucleotide variant	NM_003076.5(SMARCD1):c.1490C>G (p.Ser497Cys)	Inborn genetic diseases [RCV005282370]	uncertain significance	12	50098811	50098811	Human	1	name
617150969	CV4021936	single nucleotide variant	NM_003076.5(SMARCD1):c.1160C>A (p.Thr387Lys)	not provided [RCV005426897]	uncertain significance	12	50094463	50094463	Human		name
21404032	CV800931	single nucleotide variant	NM_003076.5(SMARCD1):c.1336A>G (p.Arg446Gly)	Coffin-Siris syndrome 11 [RCV001003486]	pathogenic	12	50096916	50096916	Human	1	name
21404033	CV800932	single nucleotide variant	NM_003076.5(SMARCD1):c.1457G>A (p.Trp486Ter)	Coffin-Siris syndrome 11 [RCV001003487]	pathogenic	12	50098778	50098778	Human	1	name
21404034	CV800933	single nucleotide variant	NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu)	Coffin-Siris syndrome 11 [RCV001003488]	pathogenic	12	50098804	50098804	Human	1	name
21404035	CV800934	single nucleotide variant	NM_003076.5(SMARCD1):c.1507C>T (p.Arg503Ter)	Coffin-Siris syndrome 11 [RCV001003489]\|not provided [RCV001564444]	pathogenic	12	50098959	50098959	Human	1	name
40888038	CV973864	single nucleotide variant	NM_003076.5(SMARCD1):c.1001G>A (p.Arg334Gln)	Inborn genetic diseases [RCV001267564]\|not provided [RCV004769984]	uncertain significance	12	50090368	50090368	Human	1	name
40886894	CV973865	single nucleotide variant	NM_003076.5(SMARCD1):c.1282A>G (p.Ile428Val)	Inborn genetic diseases [RCV001266208]	uncertain significance	12	50096862	50096862	Human	1	name
153348051	CV1695100	deletion	NM_003076.5(SMARCD1):c.451_452del (p.Leu151fs)	not provided [RCV002279031]	uncertain significance	12	50086798	50086799	Human		name
598201929	CV3891231	microsatellite	NM_003076.5(SMARCD1):c.1505GAC[1] (p.Arg503del)	Coffin-Siris syndrome 11 [RCV005255050]	uncertain significance	12	50098957	50098959	Human		name
150431571	CV1235491	microsatellite	NM_003076.5(SMARCD1):c.366-132_366-131insAGTGGTGGT	not provided [RCV001641861]	benign	12	50086481	50086482	Human		name
597651448	CV3552007	deletion	NM_003076.5(SMARCD1):c.331_339del (p.Val111_Gln113del)	not provided [RCV004820720]	uncertain significance	12	50086306	50086314	Human		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)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message