Clgn Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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61 records found for search term Clgn

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405781649	CV3305547	single nucleotide variant	NM_004362.3(CLGN):c.7T>A (p.Phe3Ile)	not specified [RCV004437059]	uncertain significance	4	140413072	140413072	Human		name
155981128	CV2212191	single nucleotide variant	NM_004362.3(CLGN):c.83C>T (p.Thr28Met)	not specified [RCV004089083]	likely benign	4	140412996	140412996	Human		name
401886006	CV2771561	single nucleotide variant	NM_004362.3(CLGN):c.51T>G (p.Ile17Met)	not specified [RCV004348585]	uncertain significance	4	140413028	140413028	Human		name
405781643	CV3305546	single nucleotide variant	NM_004362.3(CLGN):c.76G>A (p.Val26Ile)	not specified [RCV004437058]	uncertain significance	4	140413003	140413003	Human		name
405781656	CV3305548	single nucleotide variant	NM_004362.3(CLGN):c.81G>C (p.Glu27Asp)	not specified [RCV004437060]	uncertain significance	4	140412998	140412998	Human		name
15145041	CV709174	single nucleotide variant	NM_004362.3(CLGN):c.555T>C (p.Cys185=)	not provided [RCV000966929]	benign	4	140400496	140400496	Human		name
401776689	CV2711277	single nucleotide variant	NM_004362.3(CLGN):c.129T>A (p.Ser43Arg)	not specified [RCV004313060]	uncertain significance	4	140412950	140412950	Human		name
405781618	CV3305542	single nucleotide variant	NM_004362.3(CLGN):c.274G>A (p.Asp92Asn)	not specified [RCV004437054]	uncertain significance	4	140409840	140409840	Human		name
597791300	CV3656630	single nucleotide variant	NM_004362.3(CLGN):c.179T>C (p.Val60Ala)	not specified [RCV004902277]	uncertain significance	4	140410592	140410592	Human		name
598243608	CV3944642	single nucleotide variant	NM_004362.3(CLGN):c.188C>G (p.Ala63Gly)	not specified [RCV005321937]	uncertain significance	4	140410583	140410583	Human		name
156345598	CV2291115	single nucleotide variant	NM_004362.3(CLGN):c.628G>A (p.Ala210Thr)	not specified [RCV004151639]	uncertain significance	4	140400423	140400423	Human		name
156304223	CV2304722	single nucleotide variant	NM_004362.3(CLGN):c.970G>C (p.Asp324His)	not specified [RCV004166878]	uncertain significance	4	140396120	140396120	Human		name
329391035	CV2447645	single nucleotide variant	NM_004362.3(CLGN):c.498T>G (p.Ile166Met)	not specified [RCV004258445]	uncertain significance	4	140401988	140401988	Human		name
401863505	CV2765861	single nucleotide variant	NM_004362.3(CLGN):c.309C>A (p.Asn103Lys)	not specified [RCV004337898]	uncertain significance	4	140406052	140406052	Human		name
401887633	CV2773558	single nucleotide variant	NM_004362.3(CLGN):c.443G>T (p.Gly148Val)	not specified [RCV004355966]	uncertain significance	4	140402043	140402043	Human		name
405781624	CV3305543	single nucleotide variant	NM_004362.3(CLGN):c.373G>A (p.Val125Ile)	not specified [RCV004437055]	uncertain significance	4	140405988	140405988	Human		name
405781630	CV3305544	single nucleotide variant	NM_004362.3(CLGN):c.586A>G (p.Arg196Gly)	not specified [RCV004437056]	uncertain significance	4	140400465	140400465	Human		name
405781637	CV3305545	single nucleotide variant	NM_004362.3(CLGN):c.748A>G (p.Lys250Glu)	not specified [RCV004437057]	uncertain significance	4	140398987	140398987	Human		name
405781661	CV3305549	single nucleotide variant	NM_004362.3(CLGN):c.970G>A (p.Asp324Asn)	not specified [RCV004437061]	uncertain significance	4	140396120	140396120	Human		name
405781667	CV3305550	single nucleotide variant	NM_004362.3(CLGN):c.991G>A (p.Asp331Asn)	not specified [RCV004437062]	uncertain significance	4	140396099	140396099	Human		name
407462654	CV3419474	single nucleotide variant	NM_004362.3(CLGN):c.868G>T (p.Val290Phe)	not specified [RCV004613009]	uncertain significance	4	140398867	140398867	Human		name
407462661	CV3419476	single nucleotide variant	NM_004362.3(CLGN):c.401A>G (p.Asp134Gly)	not specified [RCV004613011]	uncertain significance	4	140405960	140405960	Human		name
597791297	CV3656629	single nucleotide variant	NM_004362.3(CLGN):c.313G>C (p.Val105Leu)	not specified [RCV004902276]	uncertain significance	4	140406048	140406048	Human		name
597791304	CV3656631	single nucleotide variant	NM_004362.3(CLGN):c.856G>A (p.Asp286Asn)	not specified [RCV004902278]	uncertain significance	4	140398879	140398879	Human		name
597791321	CV3656637	single nucleotide variant	NM_004362.3(CLGN):c.412A>C (p.Ile138Leu)	not specified [RCV004902284]	uncertain significance	4	140405949	140405949	Human		name
598243582	CV3944638	single nucleotide variant	NM_004362.3(CLGN):c.485C>T (p.Thr162Ile)	not specified [RCV005321933]	uncertain significance	4	140402001	140402001	Human		name
598243590	CV3944639	single nucleotide variant	NM_004362.3(CLGN):c.812A>G (p.Asn271Ser)	not specified [RCV005321934]	likely benign	4	140398923	140398923	Human		name
598243615	CV3944643	single nucleotide variant	NM_004362.3(CLGN):c.385C>A (p.Pro129Thr)	not specified [RCV005321938]	uncertain significance	4	140405976	140405976	Human		name
14350159	CV590848	single nucleotide variant	NM_004362.3(CLGN):c.959A>G (p.Lys320Arg)	Short stature [RCV000736209]	likely pathogenic	4	140396131	140396131	Human	2	name
14350161	CV590849	single nucleotide variant	NM_004362.3(CLGN):c.731A>G (p.Asp244Gly)	Short stature [RCV000736210]\|not specified [RCV004027118]	likely pathogenic\|uncertain significance	4	140399004	140399004	Human	2	name
14350162	CV590850	single nucleotide variant	NM_004362.3(CLGN):c.386C>A (p.Pro129Gln)	Short stature [RCV000736211]\|not specified [RCV004609517]	likely pathogenic\|uncertain significance	4	140405975	140405975	Human	2	name
156098338	CV2294540	single nucleotide variant	NM_004362.3(CLGN):c.1160G>A (p.Ser387Asn)	not specified [RCV004161815]	uncertain significance	4	140394031	140394031	Human		name
156141300	CV2358393	single nucleotide variant	NM_004362.3(CLGN):c.1309G>T (p.Asp437Tyr)	not specified [RCV004207288]	uncertain significance	4	140393882	140393882	Human		name
329386305	CV2428246	single nucleotide variant	NM_004362.3(CLGN):c.1718G>A (p.Ser573Asn)	not specified [RCV004251276]	uncertain significance	4	140390662	140390662	Human		name
329377005	CV2456808	single nucleotide variant	NM_004362.3(CLGN):c.1637A>C (p.Glu546Ala)	not specified [RCV004270779]	uncertain significance	4	140392233	140392233	Human		name
329394842	CV2457672	single nucleotide variant	NM_004362.3(CLGN):c.1085T>A (p.Met362Lys)	not specified [RCV004269525]	uncertain significance	4	140395883	140395883	Human		name
401771540	CV2686223	single nucleotide variant	NM_004362.3(CLGN):c.1660A>G (p.Ser554Gly)	not specified [RCV004297316]	likely benign	4	140390720	140390720	Human		name
401865797	CV2755641	single nucleotide variant	NM_004362.3(CLGN):c.1808G>A (p.Arg603His)	not specified [RCV004342026]	uncertain significance	4	140389249	140389249	Human		name
401889333	CV2759778	single nucleotide variant	NM_004362.3(CLGN):c.1292C>T (p.Ser431Leu)	not specified [RCV004342819]	uncertain significance	4	140393899	140393899	Human		name
401893927	CV2770094	single nucleotide variant	NM_004362.3(CLGN):c.1328G>A (p.Gly443Asp)	not specified [RCV004356004]	uncertain significance	4	140393863	140393863	Human		name
405781578	CV3305536	single nucleotide variant	NM_004362.3(CLGN):c.1119A>T (p.Arg373Ser)	not specified [RCV004437048]	uncertain significance	4	140395849	140395849	Human		name
405781585	CV3305537	single nucleotide variant	NM_004362.3(CLGN):c.1234G>T (p.Gly412Cys)	not specified [RCV004437049]	uncertain significance	4	140393957	140393957	Human		name
405781592	CV3305538	single nucleotide variant	NM_004362.3(CLGN):c.1520A>C (p.Lys507Thr)	not specified [RCV004437050]	uncertain significance	4	140392350	140392350	Human		name
405781596	CV3305539	single nucleotide variant	NM_004362.3(CLGN):c.1585G>A (p.Ala529Thr)	not specified [RCV004437051]	uncertain significance	4	140392285	140392285	Human		name
405781603	CV3305540	single nucleotide variant	NM_004362.3(CLGN):c.1603G>T (p.Asp535Tyr)	not specified [RCV004437052]	uncertain significance	4	140392267	140392267	Human		name
405781611	CV3305541	single nucleotide variant	NM_004362.3(CLGN):c.1823G>A (p.Arg608Gln)	not specified [RCV004437053]	uncertain significance	4	140389234	140389234	Human		name
407462657	CV3419475	single nucleotide variant	NM_004362.3(CLGN):c.1456T>G (p.Leu486Val)	not specified [RCV004613010]	uncertain significance	4	140392621	140392621	Human		name
597791290	CV3656627	single nucleotide variant	NM_004362.3(CLGN):c.1055G>A (p.Arg352Gln)	not specified [RCV004902274]	likely benign	4	140395913	140395913	Human		name
597791293	CV3656628	single nucleotide variant	NM_004362.3(CLGN):c.1192G>A (p.Glu398Lys)	not specified [RCV004902275]	uncertain significance	4	140393999	140393999	Human		name
597791309	CV3656633	single nucleotide variant	NM_004362.3(CLGN):c.1237T>G (p.Leu413Val)	not specified [RCV004902280]	uncertain significance	4	140393954	140393954	Human		name
597791312	CV3656634	single nucleotide variant	NM_004362.3(CLGN):c.1267T>G (p.Tyr423Asp)	not specified [RCV004902281]	uncertain significance	4	140393924	140393924	Human		name
597791315	CV3656635	single nucleotide variant	NM_004362.3(CLGN):c.1754T>C (p.Met585Thr)	not specified [RCV004902282]	uncertain significance	4	140389303	140389303	Human		name
597791318	CV3656636	single nucleotide variant	NM_004362.3(CLGN):c.1061G>A (p.Gly354Glu)	not specified [RCV004902283]	uncertain significance	4	140395907	140395907	Human		name
597791324	CV3656638	single nucleotide variant	NM_004362.3(CLGN):c.1409C>T (p.Pro470Leu)	not specified [RCV004902285]	uncertain significance	4	140392668	140392668	Human		name
598243594	CV3944640	single nucleotide variant	NM_004362.3(CLGN):c.1513T>C (p.Tyr505His)	not specified [RCV005321935]	uncertain significance	4	140392357	140392357	Human		name
598243603	CV3944641	single nucleotide variant	NM_004362.3(CLGN):c.1793C>T (p.Pro598Leu)	not specified [RCV005321936]	uncertain significance	4	140389264	140389264	Human		name
598243623	CV3944644	single nucleotide variant	NM_004362.3(CLGN):c.1214T>C (p.Leu405Pro)	not specified [RCV005321939]	uncertain significance	4	140393977	140393977	Human		name
598243630	CV3944645	single nucleotide variant	NM_004362.3(CLGN):c.1451T>C (p.Ile484Thr)	not specified [RCV005321940]	uncertain significance	4	140392626	140392626	Human		name
598243646	CV3944647	single nucleotide variant	NM_004362.3(CLGN):c.1468T>C (p.Phe490Leu)	not specified [RCV005321942]	uncertain significance	4	140392609	140392609	Human		name
8625718	CV80842	single nucleotide variant	NM_001130675.1(CLGN):c.600C>A (p.Pro200=)	Malignant melanoma [RCV000060919]	not provided	4	140400451	140400451	Human		name
8631031	CV86187	single nucleotide variant	NM_001130675.1(CLGN):c.607G>A (p.Gly203Arg)	Malignant melanoma [RCV000066277]	not provided	4	140400444	140400444	Human		name

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