ClinVar for MedGen (Select 813851) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 369

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25855551.	NM_018834.6(MATR3):c.734A>T (p.Lys245Ile) GRCh37: Chr5:138643838 GRCh38: Chr5:139308149	MATR3	K245I	Amyotrophic lateral sclerosis type 21	Uncertain significance	criteria provided, single submitter
Select item 24336552.	NM_018834.6(MATR3):c.358A>G (p.Arg120Gly) GRCh37: Chr5:138643462 GRCh38: Chr5:139307773	MATR3	R120G	Amyotrophic lateral sclerosis type 21	Uncertain significance (May 30, 2019)	criteria provided, single submitter
Select item 24336543.	NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly) GRCh37: Chr5:138665061 GRCh38: Chr5:139329372	MATR3	R503G, R541G, R551G, R553G, R554G, R841G, R889G	Amyotrophic lateral sclerosis type 21	Uncertain significance (Dec 24, 2019)	criteria provided, single submitter
Select item 24276654.	NC_000005.9:g.(?_138643105)_(138665084_?)dup GRCh37: Chr5:138643105-138665084	MATR3		Amyotrophic lateral sclerosis type 21	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 24203215.	NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn) GRCh37: Chr5:138658615 GRCh38: Chr5:139322926	LOC126807526, MATR3	D365N, D403N, D415N, D416N, D703N	Amyotrophic lateral sclerosis type 21	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 24146126.	NM_018834.6(MATR3):c.1602+10A>G GRCh37: Chr5:138655200 GRCh38: Chr5:139319511	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 21984057.	NM_018834.6(MATR3):c.2199T>C (p.Asn733=) GRCh37: Chr5:138661179 GRCh38: Chr5:139325490	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 21945668.	NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu) GRCh37: Chr5:138658580 GRCh38: Chr5:139322891	LOC126807526, MATR3	G391E, G404E, G691E, G403E, G353E	Inborn genetic diseases, Amyotrophic lateral sclerosis type 21	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21912279.	NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe) GRCh37: Chr5:138661147 GRCh38: Chr5:139325458	MATR3	L385F, L423F, L436F, L771F, L723F, L433F, L435F	Amyotrophic lateral sclerosis type 21	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 218977910.	NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla) GRCh37: Chr5:138643190-138643191 GRCh38: Chr5:139307501-139307502	MATR3		Amyotrophic lateral sclerosis type 21	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 218529711.	NM_018834.6(MATR3):c.2371+10A>G GRCh37: Chr5:138661361 GRCh38: Chr5:139325672	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 218388612.	NM_018834.6(MATR3):c.1182+17T>G GRCh37: Chr5:138652811 GRCh38: Chr5:139317122	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 218081013.	NM_018834.6(MATR3):c.1908G>A (p.Glu636=) GRCh37: Chr5:138658416 GRCh38: Chr5:139322727	LOC126807526, MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 217959814.	NM_018834.6(MATR3):c.1734+10A>G GRCh37: Chr5:138657728 GRCh38: Chr5:139322039	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 217185515.	NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys) GRCh37: Chr5:138643853 GRCh38: Chr5:139308164	MATR3	Y250C	Amyotrophic lateral sclerosis type 21, Inborn genetic diseases	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216922816.	NM_018834.6(MATR3):c.2496A>G (p.Lys832=) GRCh37: Chr5:138665036 GRCh38: Chr5:139329347	MATR3		Amyotrophic lateral sclerosis type 21	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 216501417.	NM_018834.6(MATR3):c.1603-9_1603-6del GRCh37: Chr5:138657571-138657574 GRCh38: Chr5:139321882-139321885	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 216487318.	NM_018834.6(MATR3):c.1735-19C>G GRCh37: Chr5:138658133 GRCh38: Chr5:139322444	LOC126807526, MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 216196219.	NM_018834.6(MATR3):c.1183-5del GRCh37: Chr5:138653279 GRCh38: Chr5:139317590	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 215970720.	NM_018834.6(MATR3):c.697G>A (p.Asp233Asn) GRCh37: Chr5:138643801 GRCh38: Chr5:139308112	MATR3	D233N	Amyotrophic lateral sclerosis type 21	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 215506521.	NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser) GRCh37: Chr5:138658402 GRCh38: Chr5:139322713	LOC126807526, MATR3	G294S, G332S, G344S, G345S, G632S	Amyotrophic lateral sclerosis type 21	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 215428822.	NM_018834.6(MATR3):c.504G>A (p.Glu168=) GRCh37: Chr5:138643608 GRCh38: Chr5:139307919	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 215428423.	NM_018834.6(MATR3):c.420A>G (p.Gln140=) GRCh37: Chr5:138643524 GRCh38: Chr5:139307835	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 215097424.	NM_018834.6(MATR3):c.18G>A (p.Gln6=) GRCh37: Chr5:138643122 GRCh38: Chr5:139307433	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 215077525.	NM_018834.6(MATR3):c.1273A>G (p.Ile425Val) GRCh37: Chr5:138653375 GRCh38: Chr5:139317686	MATR3	I137V, I138V, I125V, I425V, I87V	not provided, Amyotrophic lateral sclerosis type 21	Uncertain significance (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214951726.	NM_018834.6(MATR3):c.1602+9C>T GRCh37: Chr5:138655199 GRCh38: Chr5:139319510	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 214932327.	NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu) GRCh37: Chr5:138661281 GRCh38: Chr5:139325592	MATR3	D480E, D429E, D467E, D479E, D767E, D477E, D815E	MATR3-related condition, Amyotrophic lateral sclerosis type 21	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214910628.	NM_018834.6(MATR3):c.1734+7A>G GRCh37: Chr5:138657725 GRCh38: Chr5:139322036	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 214898729.	NM_018834.6(MATR3):c.1603-7_1603-4del GRCh37: Chr5:138657579-138657582 GRCh38: Chr5:139321890-139321893	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 214844430.	NM_018834.6(MATR3):c.429A>G (p.Leu143=) GRCh37: Chr5:138643533 GRCh38: Chr5:139307844	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 214758031.	NM_018834.6(MATR3):c.439A>C (p.Arg147=) GRCh37: Chr5:138643543 GRCh38: Chr5:139307854	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 214733632.	NM_018834.6(MATR3):c.2060T>G (p.Val687Gly) GRCh37: Chr5:138658568 GRCh38: Chr5:139322879	LOC126807526, MATR3	V399G, V349G, V400G, V687G, V387G	Amyotrophic lateral sclerosis type 21	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 214532133.	NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu) GRCh37: Chr5:138665073 GRCh38: Chr5:139329384	MATR3	K507E, K545E, K555E, K557E, K558E, K845E, K893E	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 214500034.	NM_018834.6(MATR3):c.1668C>T (p.Ala556=) GRCh37: Chr5:138657652 GRCh38: Chr5:139321963	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 214437735.	NM_018834.6(MATR3):c.1165A>G (p.Met389Val) GRCh37: Chr5:138652777 GRCh38: Chr5:139317088	MATR3	M389V, M51V, M101V, M102V, M89V	Amyotrophic lateral sclerosis type 21	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 214202436.	NM_018834.6(MATR3):c.747G>A (p.Glu249=) GRCh37: Chr5:138643851 GRCh38: Chr5:139308162	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 213885837.	NM_018834.6(MATR3):c.165A>G (p.Leu55=) GRCh37: Chr5:138643269 GRCh38: Chr5:139307580	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 213791338.	NM_018834.6(MATR3):c.1603-17T>G GRCh37: Chr5:138657570 GRCh38: Chr5:139321881	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 213230239.	NM_018834.6(MATR3):c.974+20T>C GRCh37: Chr5:138650445 GRCh38: Chr5:139314756	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 213164140.	NM_018834.6(MATR3):c.2148+14C>G GRCh37: Chr5:138658670 GRCh38: Chr5:139322981	LOC126807526, MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 212973241.	NM_018834.6(MATR3):c.2016C>G (p.Gly672=) GRCh37: Chr5:138658524 GRCh38: Chr5:139322835	MATR3, LOC126807526		Amyotrophic lateral sclerosis type 21	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 212519042.	NM_018834.6(MATR3):c.2372-4C>T GRCh37: Chr5:138661848 GRCh38: Chr5:139326159	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 211842243.	NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly) GRCh37: Chr5:138658307 GRCh38: Chr5:139322618	LOC126807526, MATR3	D300G, D313G, D600G, D262G, D312G	Amyotrophic lateral sclerosis type 21	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 211687844.	NM_018834.6(MATR3):c.2323A>G (p.Ile775Val) GRCh37: Chr5:138661303 GRCh38: Chr5:139325614	MATR3	I823V, I485V, I487V, I488V, I437V, I475V, I775V	Amyotrophic lateral sclerosis type 21	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 211414845.	NM_018834.6(MATR3):c.2300A>T (p.Asp767Val) GRCh37: Chr5:138661280 GRCh38: Chr5:139325591	MATR3	D467V, D767V, D429V, D480V, D477V, D479V, D815V	Amyotrophic lateral sclerosis type 21	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 209836546.	NM_018834.6(MATR3):c.1948A>G (p.Met650Val) GRCh37: Chr5:138658456 GRCh38: Chr5:139322767	LOC126807526, MATR3	M350V, M362V, M363V, M650V, M312V	Amyotrophic lateral sclerosis type 21	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 208866047.	NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile) GRCh37: Chr5:138653348 GRCh38: Chr5:139317659	MATR3	L416I, L78I, L116I, L128I, L129I	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208782148.	NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs) GRCh37: Chr5:138655143 GRCh38: Chr5:139319454	MATR3	P181fs, P232fs, P231fs, P519fs, P219fs	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208666749.	NM_018834.6(MATR3):c.1716T>C (p.Tyr572=) GRCh37: Chr5:138657700 GRCh38: Chr5:139322011	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208481450.	NM_018834.6(MATR3):c.233C>A (p.Thr78Asn) GRCh37: Chr5:138643337 GRCh38: Chr5:139307648	MATR3	T78N	Amyotrophic lateral sclerosis type 21	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 207970951.	NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg) GRCh37: Chr5:138651424 GRCh38: Chr5:139315735	MATR3	T338R, T51R, T38R, T50R	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 207912152.	NM_018834.6(MATR3):c.912+11_912+15del GRCh37: Chr5:138644024-138644028 GRCh38: Chr5:139308335-139308339	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 207866453.	NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG GRCh37: Chr5:138661353-138661354 GRCh38: Chr5:139325664-139325665	MATR3		Amyotrophic lateral sclerosis type 21	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 207496154.	NM_018834.6(MATR3):c.2190G>A (p.Ala730=) GRCh37: Chr5:138661170 GRCh38: Chr5:139325481	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 207094555.	NM_018834.6(MATR3):c.474T>C (p.Tyr158=) GRCh37: Chr5:138643578 GRCh38: Chr5:139307889	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 206794956.	NM_018834.6(MATR3):c.2203A>G (p.Ile735Val) GRCh37: Chr5:138661183 GRCh38: Chr5:139325494	MATR3	I435V, I397V, I448V, I783V, I445V, I447V, I735V	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 206542757.	NM_018834.6(MATR3):c.1130-15T>C GRCh37: Chr5:138652727 GRCh38: Chr5:139317038	MATR3		Amyotrophic lateral sclerosis type 21	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 205813258.	NM_018834.6(MATR3):c.1642A>G (p.Met548Val) GRCh37: Chr5:138657626 GRCh38: Chr5:139321937	MATR3	M261V, M548V, M210V, M248V, M260V	Amyotrophic lateral sclerosis type 21	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 205138759.	NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn) GRCh37: Chr5:138661857 GRCh38: Chr5:139326168	MATR3	D505N, D455N, D841N, D506N, D793N, D493N, D503N	Amyotrophic lateral sclerosis type 21	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 204791760.	NM_018834.6(MATR3):c.1929G>T (p.Gln643His) GRCh37: Chr5:138658437 GRCh38: Chr5:139322748	LOC126807526, MATR3	Q305H, Q343H, Q356H, Q355H, Q643H	Amyotrophic lateral sclerosis type 21	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 204742461.	NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala) GRCh37: Chr5:138658369 GRCh38: Chr5:139322680	LOC126807526, MATR3	S283A, S321A, S621A, S333A, S334A	Amyotrophic lateral sclerosis type 21	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 204627962.	NM_018834.6(MATR3):c.1344G>C (p.Gln448His) GRCh37: Chr5:138654632 GRCh38: Chr5:139318943	MATR3	Q160H, Q448H, Q161H, Q110H, Q148H	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 204201463.	NM_018834.6(MATR3):c.2448A>G (p.Ala816=) GRCh37: Chr5:138661928 GRCh38: Chr5:139326239	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 204036864.	NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys) GRCh37: Chr5:138658621 GRCh38: Chr5:139322932	LOC126807526, MATR3	S417C, S367C, S405C, S705C, S418C	Amyotrophic lateral sclerosis type 21	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 203806365.	NM_018834.6(MATR3):c.2494-8_2494-5del GRCh37: Chr5:138665021-138665024 GRCh38: Chr5:139329332-139329335	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 203706366.	NM_018834.6(MATR3):c.1779-19T>G GRCh37: Chr5:138658268 GRCh38: Chr5:139322579	LOC126807526, MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 203569167.	NM_018834.6(MATR3):c.1854T>A (p.Thr618=) GRCh37: Chr5:138658362 GRCh38: Chr5:139322673	LOC126807526, MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 203376668.	NM_018834.6(MATR3):c.1413C>A (p.Ser471=) GRCh37: Chr5:138654701 GRCh38: Chr5:139319012	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 202902969.	NM_018834.6(MATR3):c.462T>C (p.Pro154=) GRCh37: Chr5:138643566 GRCh38: Chr5:139307877	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202859870.	NM_018834.6(MATR3):c.2494-9_2494-8delinsAA GRCh37: Chr5:138665025-138665026 GRCh38: Chr5:139329336-139329337	MATR3		Amyotrophic lateral sclerosis type 21	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 202852171.	NM_018834.6(MATR3):c.1603-11T>G GRCh37: Chr5:138657576 GRCh38: Chr5:139321887	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 202833372.	NM_018834.6(MATR3):c.966T>C (p.Leu322=) GRCh37: Chr5:138650417 GRCh38: Chr5:139314728	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 202568673.	NM_018834.6(MATR3):c.1398G>A (p.Val466=) GRCh37: Chr5:138654686 GRCh38: Chr5:139318997	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 202234174.	NM_018834.6(MATR3):c.306T>G (p.Arg102=) GRCh37: Chr5:138643410 GRCh38: Chr5:139307721	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 202123175.	NM_018834.6(MATR3):c.2493+12T>A GRCh37: Chr5:138661985 GRCh38: Chr5:139326296	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 201490376.	NM_018834.6(MATR3):c.153C>T (p.Arg51=) GRCh37: Chr5:138643257 GRCh38: Chr5:139307568	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 201374177.	NM_018834.6(MATR3):c.870C>T (p.Pro290=) GRCh37: Chr5:138643974 GRCh38: Chr5:139308285	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 201040978.	NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly) GRCh37: Chr5:138654643 GRCh38: Chr5:139318954	MATR3	D164G, D152G, D165G, D114G, D452G	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200931879.	NM_018834.6(MATR3):c.743G>T (p.Ser248Ile) GRCh37: Chr5:138643847 GRCh38: Chr5:139308158	MATR3	S248I	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200849980.	NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr) GRCh37: Chr5:138643982 GRCh38: Chr5:139308293	MATR3	C293Y	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 198757381.	NM_018834.6(MATR3):c.2187A>G (p.Ala729=) GRCh37: Chr5:138661167 GRCh38: Chr5:139325478	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 198615082.	NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr) GRCh37: Chr5:138661165 GRCh38: Chr5:139325476	MATR3	A429T, A441T, A442T, A777T, A439T, A729T, A391T	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 198406383.	NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala) GRCh37: Chr5:138661953 GRCh38: Chr5:139326264	MATR3	P537A, P487A, P525A, P535A, P873A, P538A, P825A	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 198113684.	NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp) GRCh37: Chr5:138658386 GRCh38: Chr5:139322697	LOC126807526, MATR3	E338D, E288D, E326D, E339D, E626D	Amyotrophic lateral sclerosis type 21	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 197706485.	NM_018834.6(MATR3):c.459C>G (p.Gly153=) GRCh37: Chr5:138643563 GRCh38: Chr5:139307874	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 196642986.	NM_018834.6(MATR3):c.1017-4dup GRCh37: Chr5:138651760-138651761 GRCh38: Chr5:139316071-139316072	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 195670187.	NM_018834.6(MATR3):c.1383A>G (p.Val461=) GRCh37: Chr5:138654671 GRCh38: Chr5:139318982	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 194417288.	NM_018834.6(MATR3):c.786G>C (p.Glu262Asp) GRCh37: Chr5:138643890 GRCh38: Chr5:139308201	MATR3	E262D	Amyotrophic lateral sclerosis type 21	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 194237089.	NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala) GRCh37: Chr5:138665079 GRCh38: Chr5:139329390	MATR3	T547A, T559A, T557A, T560A, T509A, T847A, T895A	Amyotrophic lateral sclerosis type 21	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 194128390.	NM_018834.6(MATR3):c.2235T>C (p.Ala745=) GRCh37: Chr5:138661215 GRCh38: Chr5:139325526	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 193494791.	NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys) GRCh37: Chr5:138658435 GRCh38: Chr5:139322746	LOC126807526, MATR3	Q356K, Q643K, Q355K, Q343K, Q305K	Amyotrophic lateral sclerosis type 21	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 193474692.	NM_018834.6(MATR3):c.883A>G (p.Ile295Val) GRCh37: Chr5:138643987 GRCh38: Chr5:139308298	MATR3	I295V	Amyotrophic lateral sclerosis type 21	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 193323393.	NM_018834.6(MATR3):c.1016+13T>C GRCh37: Chr5:138651440 GRCh38: Chr5:139315751	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 193225894.	NM_018834.6(MATR3):c.112A>G (p.Met38Val) GRCh37: Chr5:138643216 GRCh38: Chr5:139307527	MATR3	M38V	Amyotrophic lateral sclerosis type 21	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 192389495.	NM_018834.6(MATR3):c.1309-10A>G GRCh37: Chr5:138654587 GRCh38: Chr5:139318898	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 191553896.	NM_018834.6(MATR3):c.1245A>G (p.Leu415=) GRCh37: Chr5:138653347 GRCh38: Chr5:139317658	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 191475697.	NM_018834.6(MATR3):c.952C>A (p.Arg318=) GRCh37: Chr5:138650403 GRCh38: Chr5:139314714	MATR3		Amyotrophic lateral sclerosis type 21	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 191143798.	NM_018834.6(MATR3):c.93T>G (p.Ala31=) GRCh37: Chr5:138643197 GRCh38: Chr5:139307508	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 191119399.	NM_018834.6(MATR3):c.1332A>G (p.Thr444=) GRCh37: Chr5:138654620 GRCh38: Chr5:139318931	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 1909301100.	NM_018834.6(MATR3):c.1734+19G>A GRCh37: Chr5:138657737 GRCh38: Chr5:139322048	MATR3		Amyotrophic lateral sclerosis type 21	Likely benign (Aug 5, 2022)	criteria provided, single submitter

<< First< Prev

Page of 4