Smpx Variant Search Result - Rat Genome Database

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83 records found for search term Smpx

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11626059	CV339107	single nucleotide variant	NM_014332.3(SMPX):c.-54G>A	Hearing loss, X-linked 4 [RCV000406612]	uncertain significance	X	21757983	21757983	Human	1	name
11631377	CV348662	single nucleotide variant	NM_014332.3(SMPX):c.*45A>T	Hearing loss, X-linked 4 [RCV000375665]	uncertain significance	X	21706364	21706364	Human	1	name
405063895	CV2927235	single nucleotide variant	NM_014332.3(SMPX):c.46-8T>C	not provided [RCV003580652]	likely benign	X	21743844	21743844	Human		name
405244786	CV3050635	single nucleotide variant	NM_014332.3(SMPX):c.45+9C>T	not provided [RCV003719997]	likely benign	X	21754237	21754237	Human		name
405224293	CV3158490	single nucleotide variant	NM_014332.3(SMPX):c.45+6T>C	not provided [RCV003863986]	uncertain significance	X	21754240	21754240	Human		name
11629166	CV348657	single nucleotide variant	NM_014332.3(SMPX):c.*395T>G	Hearing loss, X-linked 4 [RCV000316459]	likely benign\|uncertain significance	X	21706014	21706014	Human	1	name
596939878	CV3550662	duplication	NM_014332.3(SMPX):c.45+2dup	not provided [RCV004814562]	uncertain significance	X	21754243	21754244	Human		name
597724242	CV3734410	single nucleotide variant	NM_014332.3(SMPX):c.45+1G>T	Hearing loss, X-linked 4 [RCV005053717]	pathogenic	X	21754245	21754245	Human	1	name
597879472	CV3817397	single nucleotide variant	NM_014332.3(SMPX):c.45+1G>A	not provided [RCV005154599]	likely pathogenic	X	21754245	21754245	Human		name
28879247	CV902983	single nucleotide variant	NM_014332.3(SMPX):c.*232T>G	Hearing loss, X-linked 4 [RCV001166983]	uncertain significance	X	21706177	21706177	Human	1	name
28879251	CV902984	single nucleotide variant	NM_014332.3(SMPX):c.*181A>G	Hearing loss, X-linked 4 [RCV001166984]	uncertain significance	X	21706228	21706228	Human	1	name
28885156	CV902985	single nucleotide variant	NM_014332.3(SMPX):c.-103C>T	Hearing loss, X-linked 4 [RCV001168692]	uncertain significance	X	21758032	21758032	Human	1	name
151726354	CV1286869	single nucleotide variant	NM_014332.3(SMPX):c.132+1G>A	Hearing loss, X-linked 4 [RCV002051748]	likely pathogenic	X	21743749	21743749	Human	1	name
156183161	CV2020568	single nucleotide variant	NM_014332.3(SMPX):c.45+11C>T	not provided [RCV002710846]	likely benign	X	21754235	21754235	Human		name
405168778	CV2911595	deletion	NM_014332.3(SMPX):c.133-8del	not provided [RCV003562909]	likely benign	X	21737705	21737705	Human		name
405030810	CV3012751	deletion	NM_014332.3(SMPX):c.46-10del	not provided [RCV003695554]	benign	X	21743846	21743846	Human		name
405153589	CV3135127	single nucleotide variant	NM_014332.3(SMPX):c.45+10C>T	not provided [RCV003840239]	likely benign	X	21754236	21754236	Human		name
12892784	CV404851	single nucleotide variant	NM_014332.3(SMPX):c.133-1G>A	Hearing loss, X-linked 4 [RCV000477909]	likely pathogenic	X	21737698	21737698	Human	1	name
150416013	CV1182092	single nucleotide variant	NM_014332.3(SMPX):c.-12-79T>A	not provided [RCV001549406]	likely benign	X	21754381	21754381	Human		name
150420783	CV1195739	single nucleotide variant	NM_014332.3(SMPX):c.133-29G>A	not provided [RCV001570268]	likely benign	X	21737726	21737726	Human		name
150507692	CV1257201	single nucleotide variant	NM_014332.3(SMPX):c.46-265G>T	not provided [RCV001678500]	benign	X	21744101	21744101	Human		name
150500419	CV1283545	single nucleotide variant	NM_014332.3(SMPX):c.133-24G>A	not provided [RCV001718389]	benign	X	21737721	21737721	Human		name
405177189	CV2861045	single nucleotide variant	NM_014332.3(SMPX):c.133-20T>A	not provided [RCV003542863]	likely benign	X	21737717	21737717	Human		name
597900164	CV3826085	single nucleotide variant	NM_014332.3(SMPX):c.132+13C>A	not provided [RCV005174984]	likely benign	X	21743737	21743737	Human		name
150500706	CV1238232	single nucleotide variant	NM_014332.3(SMPX):c.133-281A>T	not provided [RCV001656662]	benign	X	21737978	21737978	Human		name
150472142	CV1252196	single nucleotide variant	NM_014332.3(SMPX):c.-12-163T>C	not provided [RCV001671397]	benign	X	21754465	21754465	Human		name
405204528	CV2858603	single nucleotide variant	NM_014332.3(SMPX):c.54C>T (p.Ile18=)	not provided [RCV003551772]	likely benign	X	21743828	21743828	Human		name
597889778	CV3823837	single nucleotide variant	NM_014332.3(SMPX):c.87A>G (p.Ala29=)	not provided [RCV005165257]	likely benign	X	21743795	21743795	Human		name
598227760	CV3894543	single nucleotide variant	NM_014332.3(SMPX):c.75T>C (p.Phe25=)	not provided [RCV005257787]	likely benign	X	21743807	21743807	Human		name
152155242	CV1668243	single nucleotide variant	NM_014332.3(SMPX):c.19C>A (p.Pro7Thr)	Myopathy, distal, 7, adult-onset, X-linked [RCV002221984]	pathogenic	X	21754272	21754272	Human	1	name
155963065	CV1931721	single nucleotide variant	NM_014332.3(SMPX):c.147C>G (p.Thr49=)	not provided [RCV002616827]	likely benign	X	21737683	21737683	Human		name
156411356	CV1976248	single nucleotide variant	NM_014332.3(SMPX):c.180G>A (p.Ala60=)	not provided [RCV002587464]	likely benign	X	21737650	21737650	Human		name
156218803	CV2035648	single nucleotide variant	NM_014332.3(SMPX):c.23T>C (p.Val8Ala)	not provided [RCV002766911]	uncertain significance	X	21754268	21754268	Human		name
156232376	CV2112547	single nucleotide variant	NM_014332.3(SMPX):c.144C>A (p.Pro48=)	not provided [RCV002932882]	likely benign	X	21737686	21737686	Human		name
405121728	CV2952533	single nucleotide variant	NM_014332.3(SMPX):c.249C>T (p.Val83=)	not provided [RCV003671542]	likely benign	X	21737581	21737581	Human		name
405189452	CV2974252	single nucleotide variant	NM_014332.3(SMPX):c.11C>T (p.Ser4Leu)	not provided [RCV003677014]	uncertain significance	X	21754280	21754280	Human		name
404992903	CV2999586	single nucleotide variant	NM_014332.3(SMPX):c.162G>A (p.Lys54=)	not provided [RCV003692454]	likely benign	X	21737668	21737668	Human		name
11614905	CV339104	single nucleotide variant	NM_014332.3(SMPX):c.264G>A (p.Gln88=)	Hearing loss, X-linked 4 [RCV000281097]	uncertain significance	X	21737566	21737566	Human	1	name
11630107	CV352180	single nucleotide variant	NM_014332.3(SMPX):c.132G>A (p.Glu44=)	Hearing loss, X-linked 4 [RCV000340837]\|SMPX-related disorder [RCV003957879]\|not provided [RCV000515115]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	21743750	21743750	Human	1	name , trait , alternate_id
597905702	CV3826606	single nucleotide variant	NM_014332.3(SMPX):c.246T>C (p.Tyr82=)	not provided [RCV005180739]	likely benign	X	21737584	21737584	Human		name
13606638	CV437698	duplication	NM_014332.3(SMPX):c.87dup (p.Gly30fs)	X-linked deafness [RCV000626484]	pathogenic	X	21743794	21743795	Human	1	name
13462378	CV438925	duplication	NM_014332.3(SMPX):c.99dup (p.Arg34fs)	not provided [RCV000514049]	likely pathogenic	X	21743782	21743783	Human		name
8604422	CV48574	deletion	NM_014332.3(SMPX):c.99del (p.Arg34fs)	Hearing loss, X-linked 4 [RCV000033153]	pathogenic	X	21743783	21743783	Human	1	name
14708974	CV656761	single nucleotide variant	NM_014332.3(SMPX):c.150G>A (p.Ser50=)	not provided [RCV000827307]	likely benign	X	21737680	21737680	Human		name
38597758	CV964595	deletion	NM_014332.3(SMPX):c.29del (p.Asn10fs)	Hearing loss, X-linked 4 [RCV001253092]	likely pathogenic	X	21754262	21754262	Human	1	name
126910761	CV1053418	deletion	NM_014332.3(SMPX):c.140del (p.Pro47fs)	Hearing impairment [RCV001375371]	likely pathogenic	X	21737690	21737690	Human	2	name
151882272	CV1371208	single nucleotide variant	NM_014332.3(SMPX):c.91C>G (p.Gln31Glu)	not provided [RCV001886693]	uncertain significance	X	21743791	21743791	Human		name
152155240	CV1668241	single nucleotide variant	NM_014332.3(SMPX):c.79C>G (p.Pro27Ala)	Myopathy, distal, 7, adult-onset, X-linked [RCV002221982]	pathogenic	X	21743803	21743803	Human	1	name
152155241	CV1668242	single nucleotide variant	NM_014332.3(SMPX):c.38C>T (p.Ala13Val)	Myopathy, distal, 7, adult-onset, X-linked [RCV002221983]	pathogenic	X	21754253	21754253	Human	1	name
156414612	CV1986773	single nucleotide variant	NM_014332.3(SMPX):c.64A>G (p.Met22Val)	not provided [RCV002609284]	uncertain significance	X	21743818	21743818	Human		name
156021329	CV2055526	single nucleotide variant	NM_014332.3(SMPX):c.65T>C (p.Met22Thr)	not provided [RCV002820629]	uncertain significance	X	21743817	21743817	Human		name
156434678	CV2403048	single nucleotide variant	NM_014332.3(SMPX):c.77G>C (p.Arg26Pro)	not provided [RCV003127004]	uncertain significance	X	21743805	21743805	Human		name
402511955	CV2859474	single nucleotide variant	NM_014332.3(SMPX):c.66G>A (p.Met22Ile)	not provided [RCV003575179]	uncertain significance	X	21743816	21743816	Human		name
405091442	CV3118472	single nucleotide variant	NM_014332.3(SMPX):c.77G>A (p.Arg26Gln)	not provided [RCV003811114]	uncertain significance	X	21743805	21743805	Human		name
404991853	CV3184337	deletion	NM_014332.3(SMPX):c.217del (p.Ile73fs)	Hearing loss, X-linked 4 [RCV003881672]	likely pathogenic	X	21737613	21737613	Human	1	name
408383544	CV3506752	duplication	NM_014332.3(SMPX):c.109dup (p.Glu37fs)	SMPX-related disorder [RCV004730699]	likely pathogenic	X	21743772	21743773	Human		name , trait , alternate_id
597884203	CV3819290	single nucleotide variant	NM_014332.3(SMPX):c.73T>A (p.Phe25Ile)	not provided [RCV005159100]	uncertain significance	X	21743809	21743809	Human		name
597924111	CV3857314	deletion	NM_014332.3(SMPX):c.245del (p.Tyr82fs)	not provided [RCV005198921]	pathogenic	X	21737585	21737585	Human		name
8602075	CV38903	deletion	NM_014332.3(SMPX):c.130del (p.Glu44fs)	Hearing loss, X-linked 4 [RCV000022840]	pathogenic	X	21743752	21743752	Human	1	name
598199992	CV3892608	single nucleotide variant	NM_014332.3(SMPX):c.98C>G (p.Pro33Arg)	not provided [RCV005254441]	uncertain significance	X	21743784	21743784	Human		name
15101833	CV758428	single nucleotide variant	NM_014332.3(SMPX):c.55A>G (p.Asn19Asp)	not provided [RCV000914859]	benign	X	21743827	21743827	Human		name
126910807	CV1053417	single nucleotide variant	NM_014332.3(SMPX):c.238C>G (p.Leu80Val)	Hearing impairment [RCV001375412]	uncertain significance	X	21737592	21737592	Human	2	name
151868855	CV1426216	single nucleotide variant	NM_014332.3(SMPX):c.233G>A (p.Ser78Asn)	Myopathy, distal, 7, adult-onset, X-linked [RCV002221692]\|not provided [RCV002035397]	pathogenic	X	21737597	21737597	Human	1	name
151781371	CV1446358	single nucleotide variant	NM_014332.3(SMPX):c.227T>C (p.Ile76Thr)	Inborn genetic diseases [RCV004970724]\|not provided [RCV001989161]	uncertain significance	X	21737603	21737603	Human	1	name
151853361	CV1490420	single nucleotide variant	NM_014332.3(SMPX):c.130G>T (p.Glu44Ter)	not provided [RCV001958288]	pathogenic	X	21743752	21743752	Human		name
151884781	CV1494155	single nucleotide variant	NM_014332.3(SMPX):c.100A>G (p.Arg34Gly)	not provided [RCV001962407]	uncertain significance	X	21743782	21743782	Human		name
156032529	CV2002467	single nucleotide variant	NM_014332.3(SMPX):c.212C>T (p.Ser71Leu)	not provided [RCV002658720]	uncertain significance	X	21737618	21737618	Human		name
156010712	CV2042963	single nucleotide variant	NM_014332.3(SMPX):c.149C>T (p.Ser50Leu)	not provided [RCV002756670]	uncertain significance	X	21737681	21737681	Human		name
11089091	CV231250	single nucleotide variant	NM_014332.3(SMPX):c.182A>G (p.Lys61Arg)	not provided [RCV001853487]\|not specified [RCV000214374]	pathogenic\|uncertain significance	X	21737648	21737648	Human		name
156000166	CV2383177	single nucleotide variant	NM_014332.3(SMPX):c.261A>T (p.Glu87Asp)	Inborn genetic diseases [RCV002689984]\|not provided [RCV003699017]	uncertain significance	X	21737569	21737569	Human	1	name
402496992	CV2988805	single nucleotide variant	NM_014332.3(SMPX):c.173C>T (p.Pro58Leu)	not provided [RCV003714353]	uncertain significance	X	21737657	21737657	Human		name
405855206	CV3393968	single nucleotide variant	NM_014332.3(SMPX):c.197C>G (p.Pro66Arg)	Hearing loss, X-linked 4 [RCV004547194]	uncertain significance	X	21737633	21737633	Human	1	name
597665584	CV3732632	single nucleotide variant	NM_014332.3(SMPX):c.157G>A (p.Glu53Lys)	not provided [RCV005004103]	uncertain significance	X	21737673	21737673	Human		name
597724235	CV3734408	single nucleotide variant	NM_014332.3(SMPX):c.265T>C (p.Ter89Gln)	Hearing loss, X-linked 4 [RCV005053715]	pathogenic	X	21737565	21737565	Human	1	name
597855464	CV3747739	single nucleotide variant	NM_014332.3(SMPX):c.179C>T (p.Ala60Val)	not provided [RCV005066750]	uncertain significance	X	21737651	21737651	Human		name
597897178	CV3825421	single nucleotide variant	NM_014332.3(SMPX):c.101G>T (p.Arg34Ile)	not provided [RCV005172104]	uncertain significance	X	21743781	21743781	Human		name
8602072	CV38900	single nucleotide variant	NM_014332.3(SMPX):c.175G>T (p.Gly59Ter)	Hearing loss, X-linked 4 [RCV000022837]	pathogenic	X	21737655	21737655	Human	1	name
8602073	CV38901	single nucleotide variant	NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)	Hearing loss, X-linked 4 [RCV000022838]	pathogenic	X	21743773	21743773	Human	1	name
8602074	CV38902	single nucleotide variant	NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)	Hearing loss, X-linked 4 [RCV000022839]	pathogenic	X	21737616	21737616	Human	1	name
40889773	CV975610	single nucleotide variant	NM_014332.3(SMPX):c.127G>T (p.Glu43Ter)	not provided [RCV001268232]	pathogenic	X	21743755	21743755	Human		name
42724000	CV984014	single nucleotide variant	NM_014332.3(SMPX):c.139C>T (p.Pro47Ser)	not provided [RCV003718400]\|not specified [RCV001290652]	uncertain significance	X	21737691	21737691	Human		name
405006465	CV2929590	duplication	NM_014332.3(SMPX):c.254_257dup (p.Glu87fs)	not provided [RCV003576375]	uncertain significance	X	21737572	21737573	Human		name
405193766	CV2975133	microsatellite	NM_014332.3(SMPX):c.154GAG[1] (p.Glu53del)	not provided [RCV003677448]	uncertain significance	X	21737671	21737673	Human		name

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