Tmx2 Variant Search Result - Rat Genome Database

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58 records found for search term Tmx2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
329848218	CV2667837	single nucleotide variant	NM_015959.4(TMX2):c.190-3C>A	not provided [RCV003229404]	uncertain significance	11	57737605	57737605	Human		name
405871669	CV3398007	single nucleotide variant	NM_015959.4(TMX2):c.745-6G>A	not provided [RCV004575007]	likely benign	11	57740093	57740093	Human		name
405259481	CV3194852	single nucleotide variant	NM_015959.4(TMX2):c.548+10G>A	TMX2-related disorder [RCV003894240]	likely benign	11	57738780	57738780	Human		name , trait , alternate_id
21072130	CV792709	deletion	NM_015959.4(TMX2):c.609_614+15del	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV000991349]	pathogenic	11	57739033	57739053	Human	1	name
401905235	CV2816638	single nucleotide variant	NM_015959.4(TMX2):c.198G>A (p.Val66=)	not provided [RCV003395799]	likely benign	11	57737616	57737616	Human		name
405786748	CV3343702	single nucleotide variant	NM_015959.4(TMX2):c.11T>C (p.Leu4Ser)	Inborn genetic diseases [RCV004472996]	uncertain significance	11	57712629	57712629	Human	1	name
15107341	CV712888	single nucleotide variant	NM_015959.4(TMX2):c.114C>T (p.Leu38=)	not provided [RCV000960271]	benign	11	57712732	57712732	Human		name
126910883	CV1038070	single nucleotide variant	NM_015959.4(TMX2):c.95T>G (p.Leu32Arg)	not provided [RCV001354756]	uncertain significance	11	57712713	57712713	Human		name
151662282	CV1333004	single nucleotide variant	NM_015959.4(TMX2):c.79C>T (p.Leu27Phe)	Inborn genetic diseases [RCV004041020]\|Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV001837236]	uncertain significance	11	57712697	57712697	Human	2	name
156250623	CV2273312	single nucleotide variant	NM_015959.4(TMX2):c.77A>G (p.Tyr26Cys)	Inborn genetic diseases [RCV002831101]	likely benign	11	57712695	57712695	Human	1	name
401905237	CV2816639	single nucleotide variant	NM_015959.4(TMX2):c.507C>T (p.Asp169=)	not provided [RCV003395800]	likely benign	11	57738729	57738729	Human		name
401905239	CV2816640	single nucleotide variant	NM_015959.4(TMX2):c.879G>A (p.Lys293=)	TMX2-related disorder [RCV003938910]\|not provided [RCV003395801]	likely benign	11	57740233	57740233	Human	1	name , trait , alternate_id
405282287	CV3216364	single nucleotide variant	NM_015959.4(TMX2):c.799C>T (p.Leu267=)	TMX2-related disorder [RCV003956864]	likely benign	11	57740153	57740153	Human		name , trait , alternate_id
405786771	CV3343706	single nucleotide variant	NM_015959.4(TMX2):c.65C>T (p.Ala22Val)	Inborn genetic diseases [RCV004473000]	uncertain significance	11	57712683	57712683	Human	1	name
405853136	CV3393569	single nucleotide variant	NM_015959.4(TMX2):c.714A>G (p.Lys238=)	not provided [RCV004546299]	likely benign	11	57739230	57739230	Human		name
408367245	CV3518052	single nucleotide variant	NM_015959.4(TMX2):c.612G>A (p.Thr204=)	TMX2-related disorder [RCV004757943]	likely benign	11	57739037	57739037	Human		name , trait , alternate_id
597629116	CV3620639	single nucleotide variant	NM_015959.4(TMX2):c.366G>A (p.Val122=)	Inborn genetic diseases [RCV004967005]	likely benign	11	57738355	57738355	Human	1	name
127230333	CV1087068	deletion	NM_015959.4(TMX2):c.392del (p.Leu131fs)	See cases [RCV001420247]\|not provided [RCV003229053]	likely pathogenic\|uncertain significance	11	57738381	57738381	Human		name
150406501	CV1200017	single nucleotide variant	NM_015959.4(TMX2):c.180C>G (p.Asp60Glu)	not provided [RCV001579383]	uncertain significance	11	57712798	57712798	Human		name
401855604	CV2753022	single nucleotide variant	NM_015959.4(TMX2):c.107T>C (p.Phe36Ser)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV003338077]	uncertain significance	11	57712725	57712725	Human	1	name
401905234	CV2816637	single nucleotide variant	NM_015959.4(TMX2):c.142G>C (p.Gly48Arg)	TMX2-related disorder [RCV003980872]\|not provided [RCV003395798]	likely benign	11	57712760	57712760	Human	1	name , trait , alternate_id
405786753	CV3343703	single nucleotide variant	NM_015959.4(TMX2):c.128C>T (p.Pro43Leu)	Inborn genetic diseases [RCV004472997]	uncertain significance	11	57712746	57712746	Human	1	name
405786760	CV3343704	single nucleotide variant	NM_015959.4(TMX2):c.218G>A (p.Ser73Asn)	Inborn genetic diseases [RCV004472998]	uncertain significance	11	57737636	57737636	Human	1	name
405854266	CV3392942	deletion	NM_015959.4(TMX2):c.750del (p.Asn250fs)	not specified [RCV004527099]	uncertain significance	11	57740104	57740104	Human		name
597629120	CV3620640	single nucleotide variant	NM_015959.4(TMX2):c.197T>C (p.Val66Ala)	Inborn genetic diseases [RCV004967006]	uncertain significance	11	57737615	57737615	Human	1	name
597629126	CV3620641	single nucleotide variant	NM_015959.4(TMX2):c.133C>T (p.Leu45Phe)	Inborn genetic diseases [RCV004967007]	uncertain significance	11	57712751	57712751	Human	1	name
598219116	CV3891756	single nucleotide variant	NM_015959.4(TMX2):c.173C>T (p.Pro58Leu)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV005252599]	uncertain significance	11	57712791	57712791	Human	1	name
598228865	CV3935044	single nucleotide variant	NM_015959.4(TMX2):c.234G>A (p.Met78Ile)	Inborn genetic diseases [RCV005294800]	uncertain significance	11	57737652	57737652	Human	1	name
598228881	CV3935047	single nucleotide variant	NM_015959.4(TMX2):c.254C>T (p.Thr85Ile)	Inborn genetic diseases [RCV005294803]	uncertain significance	11	57737916	57737916	Human	1	name
21072118	CV792704	single nucleotide variant	NM_015959.4(TMX2):c.164A>C (p.Asp55Ala)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV000991344]	pathogenic	11	57712782	57712782	Human	1	name
21072120	CV792705	duplication	NM_015959.4(TMX2):c.391dup (p.Leu131fs)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV000991345]	pathogenic	11	57738373	57738374	Human	1	name
21072128	CV792708	single nucleotide variant	NM_015959.4(TMX2):c.157C>T (p.Arg53Cys)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV000991348]	pathogenic	11	57712775	57712775	Human	1	name
21072132	CV792710	single nucleotide variant	NM_015959.4(TMX2):c.166G>C (p.Gly56Arg)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV000991350]	pathogenic	11	57712784	57712784	Human	1	name
126726437	CV1017466	single nucleotide variant	NM_015959.4(TMX2):c.613C>T (p.Arg205Trp)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV001331969]	likely pathogenic	11	57739038	57739038	Human	1	name
127230336	CV1087069	single nucleotide variant	NM_015959.4(TMX2):c.454C>T (p.Arg152Trp)	Inborn genetic diseases [RCV002554084]\|See cases [RCV001420248]	likely pathogenic\|uncertain significance	11	57738676	57738676	Human	1	name
156189566	CV2226850	single nucleotide variant	NM_015959.4(TMX2):c.443A>T (p.Glu148Val)	Inborn genetic diseases [RCV002742763]	uncertain significance	11	57738665	57738665	Human	1	name
156197120	CV2241597	single nucleotide variant	NM_015959.4(TMX2):c.466G>T (p.Val156Phe)	Inborn genetic diseases [RCV002743206]	uncertain significance	11	57738688	57738688	Human	1	name
156081631	CV2256144	single nucleotide variant	NM_015959.4(TMX2):c.563G>C (p.Gly188Ala)	Inborn genetic diseases [RCV002783768]	uncertain significance	11	57738988	57738988	Human	1	name
329375610	CV2431582	single nucleotide variant	NM_015959.4(TMX2):c.334A>G (p.Met112Val)	Inborn genetic diseases [RCV003173885]	uncertain significance	11	57737996	57737996	Human	1	name
329358789	CV2450709	single nucleotide variant	NM_015959.4(TMX2):c.457G>T (p.Asp153Tyr)	Inborn genetic diseases [RCV003204179]	uncertain significance	11	57738679	57738679	Human	1	name
329953022	CV2669731	single nucleotide variant	NM_015959.4(TMX2):c.375G>A (p.Met125Ile)	not provided [RCV003234355]	uncertain significance	11	57738364	57738364	Human		name
401721461	CV2673723	single nucleotide variant	NM_015959.4(TMX2):c.634C>T (p.Pro212Ser)	Inborn genetic diseases [RCV003244427]	uncertain significance	11	57739150	57739150	Human	1	name
401734346	CV2688479	single nucleotide variant	NM_015959.4(TMX2):c.826G>T (p.Glu276Ter)	Inborn genetic diseases [RCV003290746]	uncertain significance	11	57740180	57740180	Human	1	name
401918722	CV2794655	single nucleotide variant	NM_015959.4(TMX2):c.818A>G (p.Asn273Ser)	not specified [RCV003388329]	uncertain significance	11	57740172	57740172	Human		name
405708222	CV3225479	single nucleotide variant	NM_015959.4(TMX2):c.532G>A (p.Ala178Thr)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV003990535]	uncertain significance	11	57738754	57738754	Human	1	name
405786765	CV3343705	single nucleotide variant	NM_015959.4(TMX2):c.332G>C (p.Arg111Pro)	Inborn genetic diseases [RCV004472999]	uncertain significance	11	57737994	57737994	Human	1	name
405786777	CV3343707	single nucleotide variant	NM_015959.4(TMX2):c.710A>G (p.Lys237Arg)	Inborn genetic diseases [RCV004473001]	uncertain significance	11	57739226	57739226	Human	1	name
407527457	CV3479130	single nucleotide variant	NM_015959.4(TMX2):c.611C>T (p.Thr204Met)	Inborn genetic diseases [RCV004680018]	uncertain significance	11	57739036	57739036	Human	1	name
407527458	CV3479131	single nucleotide variant	NM_015959.4(TMX2):c.724G>A (p.Val242Ile)	Inborn genetic diseases [RCV004680019]	uncertain significance	11	57739240	57739240	Human	1	name
407527461	CV3479132	single nucleotide variant	NM_015959.4(TMX2):c.847A>G (p.Thr283Ala)	Inborn genetic diseases [RCV004680020]	uncertain significance	11	57740201	57740201	Human	1	name
598228872	CV3935045	single nucleotide variant	NM_015959.4(TMX2):c.494A>G (p.Asn165Ser)	Inborn genetic diseases [RCV005294801]	uncertain significance	11	57738716	57738716	Human	1	name
598228879	CV3935046	single nucleotide variant	NM_015959.4(TMX2):c.695G>A (p.Arg232Gln)	Inborn genetic diseases [RCV005294802]	uncertain significance	11	57739211	57739211	Human	1	name
598253138	CV3935049	single nucleotide variant	NM_015959.4(TMX2):c.878A>G (p.Lys293Arg)	Inborn genetic diseases [RCV005278199]	uncertain significance	11	57740232	57740232	Human	1	name
616938955	CV4015282	single nucleotide variant	NM_015959.4(TMX2):c.552C>G (p.Tyr184Ter)	not provided [RCV005412791]	uncertain significance	11	57738977	57738977	Human		name
21072123	CV792706	single nucleotide variant	NM_015959.4(TMX2):c.757C>T (p.Arg253Ter)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV000991346]	pathogenic	11	57740111	57740111	Human	1	name
21072125	CV792707	single nucleotide variant	NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)	Abnormality of the nervous system [RCV001814248]\|Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV000991347]\|not provided [RCV002245822]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	57739039	57739039	Human	3	name
404992000	CV3184366	deletion	NM_015959.4(TMX2):c.185_188del (p.Asp62fs)	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [RCV003881696]	likely pathogenic	11	57712801	57712804	Human	1	name
329953019	CV2669728	deletion	NM_015959.4(TMX2):c.724_725del (p.Val242fs)	not provided [RCV003234352]	uncertain significance	11	57739239	57739240	Human		name

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