ClinVar for MedGen (Select 400169) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24250191.	NC_000002.11:g.(?_74597072)_(74607164_?)dup GRCh37: Chr2:74597072-74607164	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 24250182.	NC_000002.11:g.(?_74588626)_(74607164_?)dup GRCh37: Chr2:74588626-74607164	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 24211043.	NM_004082.5(DCTN1):c.280A>G (p.Ile94Val) GRCh37: Chr2:74604853 GRCh38: Chr2:74377726	DCTN1	I77V, I94V	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 24207734.	NM_000454.5(SOD1):c.357+2dup GRCh37: Chr21:33039689-33039690 GRCh38: Chr21:31667376-31667377	SOD1		Amyotrophic lateral sclerosis type 1	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 24200835.	NM_000454.5(SOD1):c.15C>T (p.Ala5=) GRCh37: Chr21:33032097 GRCh38: Chr21:31659784	SOD1		Amyotrophic lateral sclerosis type 1	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 24143996.	NM_004082.5(DCTN1):c.1562G>A (p.Arg521His) GRCh37: Chr2:74596449 GRCh38: Chr2:74369322	DCTN1	R387H, R484H, R498H, R501H, R504H, R514H, R521H	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 22026137.	NM_004082.5(DCTN1):c.279+11C>A GRCh37: Chr2:74605116 GRCh38: Chr2:74377989	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 22016898.	NM_004082.5(DCTN1):c.3212-3C>T GRCh37: Chr2:74590557 GRCh38: Chr2:74363430	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 22010539.	NM_000454.5(SOD1):c.240-14T>C GRCh37: Chr21:33039557 GRCh38: Chr21:31667244	SOD1		Amyotrophic lateral sclerosis type 1	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 220005510.	NM_004082.5(DCTN1):c.1049-13_1049-12del GRCh37: Chr2:74597683-74597684 GRCh38: Chr2:74370556-74370557	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 219939911.	NM_004082.5(DCTN1):c.2629-13T>C GRCh37: Chr2:74593515 GRCh38: Chr2:74366388	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 219782612.	NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe) GRCh37: Chr2:74594914 GRCh38: Chr2:74367787	DCTN1	S564F, S661F, S691F, S678F, S675F, S681F, S698F	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 219710413.	NM_000454.5(SOD1):c.286G>A (p.Ala96Thr) GRCh37: Chr21:33039617 GRCh38: Chr21:31667304	SOD1	A96T	Amyotrophic lateral sclerosis type 1	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 219695714.	NM_004082.5(DCTN1):c.3024G>A (p.Lys1008=) GRCh37: Chr2:74592647 GRCh38: Chr2:74365520	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 219644215.	NM_004082.5(DCTN1):c.3211+20G>A GRCh37: Chr2:74590721 GRCh38: Chr2:74363594	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 219621616.	NM_004082.5(DCTN1):c.1584+2T>C GRCh37: Chr2:74596425 GRCh38: Chr2:74369298	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 219412717.	NM_004082.5(DCTN1):c.3212-14dup GRCh37: Chr2:74590567-74590568 GRCh38: Chr2:74363440-74363441	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Benign (May 7, 2022)	criteria provided, single submitter
Select item 219411918.	NM_004082.5(DCTN1):c.3378G>A (p.Leu1126=) GRCh37: Chr2:74590272 GRCh38: Chr2:74363145	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 219352719.	NM_004082.5(DCTN1):c.3131C>T (p.Thr1044Met) GRCh37: Chr2:74592267 GRCh38: Chr2:74365140	DCTN1	T1044M, T1037M, T1007M, T1021M, T1027M, T1024M, T910M	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 219266520.	NM_004082.5(DCTN1):c.394-20C>T GRCh37: Chr2:74603909 GRCh38: Chr2:74376782	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 219215021.	NM_004082.5(DCTN1):c.3197-9C>T GRCh37: Chr2:74590764 GRCh38: Chr2:74363637	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 218493322.	NM_004082.5(DCTN1):c.34-13C>A GRCh37: Chr2:74605385 GRCh38: Chr2:74378258	DCTN1		Neuronopathy, distal hereditary motor, type 7B, Amyotrophic lateral sclerosis type 1, Perry syndrome	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 218441123.	NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn) GRCh37: Chr2:74596597 GRCh38: Chr2:74369470	DCTN1	D338N, D472N, D455N, D465N, D449N, D435N, D452N	Neuronopathy, distal hereditary motor, type 7B, Amyotrophic lateral sclerosis type 1, Perry syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 217997124.	NM_004082.5(DCTN1):c.1602G>C (p.Leu534=) GRCh37: Chr2:74596324 GRCh38: Chr2:74369197	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 217878425.	NM_004082.5(DCTN1):c.843+13A>G GRCh37: Chr2:74598093 GRCh38: Chr2:74370966	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 217876526.	NM_004082.5(DCTN1):c.279+20G>T GRCh37: Chr2:74605107 GRCh38: Chr2:74377980	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 217508027.	NM_004082.5(DCTN1):c.3345G>A (p.Lys1115=) GRCh37: Chr2:74590421 GRCh38: Chr2:74363294	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 217387528.	NM_004082.5(DCTN1):c.2103C>T (p.Phe701=) GRCh37: Chr2:74594904 GRCh38: Chr2:74367777	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 217312029.	NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile) GRCh37: Chr2:74596241 GRCh38: Chr2:74369114	DCTN1	T525I, T539I, T428I, T562I, T542I, T545I, T555I	Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 217256730.	NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser) GRCh37: Chr2:74597780 GRCh38: Chr2:74370653	DCTN1	L316S, L322S, L332S, L339S, L205S, L302S, L319S	Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 217087131.	NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly) GRCh37: Chr2:74589228 GRCh38: Chr2:74362101	DCTN1	A1175G, A1192G, A1078G, A1083G, A1210G, A1194G, A1200G, A1217G	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 216817632.	NM_004082.5(DCTN1):c.3699+18del GRCh37: Chr2:74589161 GRCh38: Chr2:74362034	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216626533.	NM_004082.5(DCTN1):c.2253+13G>A GRCh37: Chr2:74594466 GRCh38: Chr2:74367339	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 216441434.	NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr) GRCh37: Chr2:74595895 GRCh38: Chr2:74368768	DCTN1	C471Y, C585Y, C582Y, C588Y, C598Y, C568Y, C605Y	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 216396735.	NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val) GRCh37: Chr2:74596614 GRCh38: Chr2:74369487	DCTN1	A332V, A429V, A443V, A446V, A449V, A459V, A466V	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 216391936.	NM_000454.5(SOD1):c.96G>A (p.Val32=) GRCh37: Chr21:33036126 GRCh38: Chr21:31663813	SOD1		Amyotrophic lateral sclerosis type 1	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 216358737.	NM_004082.5(DCTN1):c.3699+11G>A GRCh37: Chr2:74589168 GRCh38: Chr2:74362041	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 216219338.	NM_004082.5(DCTN1):c.454-12C>T GRCh37: Chr2:74598867 GRCh38: Chr2:74371740	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 216216539.	NM_004082.5(DCTN1):c.546G>A (p.Glu182=) GRCh37: Chr2:74598763 GRCh38: Chr2:74371636	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 216106240.	NM_004082.5(DCTN1):c.2628+3G>A GRCh37: Chr2:74593583 GRCh38: Chr2:74366456	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 215825641.	NM_000454.5(SOD1):c.414A>G (p.Thr138=) GRCh37: Chr21:33040840 GRCh38: Chr21:31668527	SOD1		Amyotrophic lateral sclerosis type 1	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 215615742.	NM_004082.5(DCTN1):c.453+14C>A GRCh37: Chr2:74600041 GRCh38: Chr2:74372914	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 215572443.	NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser) GRCh37: Chr2:74605336 GRCh38: Chr2:74378209	DCTN1	A24S, A7S	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 215572244.	NM_004082.5(DCTN1):c.1392+7G>A GRCh37: Chr2:74597085 GRCh38: Chr2:74369958	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 215490245.	NM_004082.5(DCTN1):c.3125A>G (p.Lys1042Arg) GRCh37: Chr2:74592273 GRCh38: Chr2:74365146	DCTN1	K1025R, K1005R, K1019R, K1035R, K1042R, K1022R, K908R	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 215248246.	NM_004082.5(DCTN1):c.843+19G>C GRCh37: Chr2:74598087 GRCh38: Chr2:74370960	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 215147747.	NM_004082.5(DCTN1):c.2469A>G (p.Val823=) GRCh37: Chr2:74593745 GRCh38: Chr2:74366618	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 215083548.	NM_000454.5(SOD1):c.288C>T (p.Ala96=) GRCh37: Chr21:33039619 GRCh38: Chr21:31667306	SOD1		Amyotrophic lateral sclerosis type 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215077049.	NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala) GRCh37: Chr2:74594044 GRCh38: Chr2:74366917	DCTN1	T755A, T758A, T778A, T644A, T741A, T761A, T771A	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 215045750.	NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys) GRCh37: Chr2:74594186 GRCh38: Chr2:74367059	DCTN1	R761C, R731C, R748C, R634C, R751C, R768C, R745C	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 215017451.	NM_004082.5(DCTN1):c.852G>A (p.Lys284=) GRCh37: Chr2:74597944 GRCh38: Chr2:74370817	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 214995652.	NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu) GRCh37: Chr2:74594938 GRCh38: Chr2:74367811	DCTN1	P683L, P556L, P667L, P673L, P670L, P690L, P653L	Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214962653.	NM_004082.5(DCTN1):c.1393-13T>C GRCh37: Chr2:74596631 GRCh38: Chr2:74369504	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 214806354.	NM_004082.5(DCTN1):c.1133G>A (p.Arg378Gln) GRCh37: Chr2:74597467 GRCh38: Chr2:74370340	DCTN1	R358Q, R361Q, R371Q, R378Q, R355Q, R244Q, R341Q	Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 214768055.	NM_004082.5(DCTN1):c.2575G>A (p.Glu859Lys) GRCh37: Chr2:74593639 GRCh38: Chr2:74366512	DCTN1	E839K, E852K, E822K, E836K, E842K, E859K, E725K	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 214737656.	NM_004082.5(DCTN1):c.2377G>A (p.Asp793Asn) GRCh37: Chr2:74593999 GRCh38: Chr2:74366872	DCTN1	D659N, D773N, D776N, D786N, D793N, D756N, D770N	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 214511957.	NM_004082.5(DCTN1):c.1062T>C (p.Ala354=) GRCh37: Chr2:74597658 GRCh38: Chr2:74370531	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 214500358.	NM_004082.5(DCTN1):c.1048+17T>C GRCh37: Chr2:74597731 GRCh38: Chr2:74370604	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 214185359.	NM_004082.5(DCTN1):c.2761-14C>T GRCh37: Chr2:74593159 GRCh38: Chr2:74366032	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 214144560.	NM_004082.5(DCTN1):c.1232G>A (p.Arg411His) GRCh37: Chr2:74597368 GRCh38: Chr2:74370241	DCTN1	R411H, R404H, R374H, R391H, R277H, R388H, R394H	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 214127961.	NM_004082.5(DCTN1):c.1128-15C>G GRCh37: Chr2:74597487 GRCh38: Chr2:74370360	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214104962.	NM_004082.5(DCTN1):c.2467-8G>A GRCh37: Chr2:74593755 GRCh38: Chr2:74366628	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 214061163.	NM_004082.5(DCTN1):c.282C>A (p.Ile94=) GRCh37: Chr2:74604851 GRCh38: Chr2:74377724	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 213950864.	NM_004082.5(DCTN1):c.2887-14C>G GRCh37: Chr2:74592798 GRCh38: Chr2:74365671	DCTN1		Neuronopathy, distal hereditary motor, type 7B, Amyotrophic lateral sclerosis type 1, Perry syndrome	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 213880765.	NM_004082.5(DCTN1):c.2676A>G (p.Ser892=) GRCh37: Chr2:74593455 GRCh38: Chr2:74366328	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 213838266.	NM_000454.5(SOD1):c.439T>C (p.Cys147Arg) GRCh37: Chr21:33040865 GRCh38: Chr21:31668552	SOD1	C147R	Amyotrophic lateral sclerosis type 1	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 213838167.	NM_000454.5(SOD1):c.401A>T (p.Glu134Val) GRCh37: Chr21:33040827 GRCh38: Chr21:31668514	SOD1	E134V	Amyotrophic lateral sclerosis type 1	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 213838068.	NM_000454.5(SOD1):c.401A>G (p.Glu134Gly) GRCh37: Chr21:33040827 GRCh38: Chr21:31668514	SOD1	E134G	Amyotrophic lateral sclerosis type 1	Pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 213837969.	NM_000454.5(SOD1):c.380T>C (p.Leu127Ser) GRCh37: Chr21:33040806 GRCh38: Chr21:31668493	SOD1	L127S	Amyotrophic lateral sclerosis type 1	Pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 213837870.	NM_000454.5(SOD1):c.376G>C (p.Asp126His) GRCh37: Chr21:33040802 GRCh38: Chr21:31668489	SOD1	D126H	Amyotrophic lateral sclerosis type 1	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 213837771.	NM_000454.5(SOD1):c.344G>C (p.Gly115Ala) GRCh37: Chr21:33039675 GRCh38: Chr21:31667362	SOD1	G115A	Amyotrophic lateral sclerosis type 1	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 213837672.	NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr) GRCh37: Chr21:33039666 GRCh38: Chr21:31667353	SOD1	C112Y	Amyotrophic lateral sclerosis type 1	Pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 213837573.	NM_000454.5(SOD1):c.292G>C (p.Val98Leu) GRCh37: Chr21:33039623 GRCh38: Chr21:31667310	SOD1	V98L	Amyotrophic lateral sclerosis type 1	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 213837474.	NM_000454.5(SOD1):c.116T>A (p.Leu39Gln) GRCh37: Chr21:33036146 GRCh38: Chr21:31663833	SOD1	L39Q	Amyotrophic lateral sclerosis type 1	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 213837375.	NM_000454.5(SOD1):c.26T>A (p.Leu9Gln) GRCh37: Chr21:33032108 GRCh38: Chr21:31659795	SOD1	L9Q	Amyotrophic lateral sclerosis type 1	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 213837276.	NM_000454.5(SOD1):c.10A>G (p.Lys4Glu) GRCh37: Chr21:33032092 GRCh38: Chr21:31659779	SOD1	K4E	Amyotrophic lateral sclerosis type 1	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 213720777.	NM_004082.5(DCTN1):c.161C>T (p.Thr54Ile) GRCh37: Chr2:74605245 GRCh38: Chr2:74378118	DCTN1	T37I, T54I	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 213390178.	NM_004082.5(DCTN1):c.2185-15G>C GRCh37: Chr2:74594562 GRCh38: Chr2:74367435	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 212888879.	NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr) GRCh37: Chr2:74588633 GRCh38: Chr2:74361506	DCTN1	I1254T, I1260T, I1270T, I1235T, I1252T, I1138T, I1143T, I1277T	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212883080.	NM_004082.5(DCTN1):c.3133A>T (p.Ile1045Phe) GRCh37: Chr2:74592265 GRCh38: Chr2:74365138	DCTN1	I1025F, I1028F, I1038F, I1008F, I1022F, I911F, I1045F	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 212711981.	NM_004082.5(DCTN1):c.394-3C>T GRCh37: Chr2:74603892 GRCh38: Chr2:74376765	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 212589882.	NM_004082.5(DCTN1):c.3610-5C>T GRCh37: Chr2:74589273 GRCh38: Chr2:74362146	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 212317683.	NM_004082.5(DCTN1):c.2927T>C (p.Leu976Pro) GRCh37: Chr2:74592744 GRCh38: Chr2:74365617	DCTN1	L842P, L939P, L953P, L969P, L956P, L976P, L959P	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212129384.	NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser) GRCh37: Chr2:74595932 GRCh38: Chr2:74368805	DCTN1	P576S, P556S, P570S, P459S, P573S, P586S, P593S	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211939885.	NM_000454.5(SOD1):c.387A>G (p.Lys129=) GRCh37: Chr21:33040813 GRCh38: Chr21:31668500	SOD1		Amyotrophic lateral sclerosis type 1	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211641486.	NM_004082.5(DCTN1):c.1128-13C>T GRCh37: Chr2:74597485 GRCh38: Chr2:74370358	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 211555387.	NM_004082.5(DCTN1):c.3529+8C>G GRCh37: Chr2:74590113 GRCh38: Chr2:74362986	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 211315288.	NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro) GRCh37: Chr2:74604805-74604806 GRCh38: Chr2:74377678-74377679	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 211180989.	NM_004082.5(DCTN1):c.1288-12C>T GRCh37: Chr2:74597208 GRCh38: Chr2:74370081	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 211101490.	NM_004082.5(DCTN1):c.2512G>A (p.Val838Met) GRCh37: Chr2:74593702 GRCh38: Chr2:74366575	DCTN1	V704M, V815M, V838M, V818M, V821M, V831M, V801M	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 211016091.	NM_004082.5(DCTN1):c.3780C>T (p.His1260=) GRCh37: Chr2:74588683 GRCh38: Chr2:74361556	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 210958092.	NM_004082.5(DCTN1):c.432+14C>T GRCh37: Chr2:74601436 GRCh38: Chr2:74374309	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 210907993.	NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala) GRCh37: Chr2:74594846 GRCh38: Chr2:74367719	DCTN1	T684A, T701A, T714A, T587A, T704A, T698A, T721A	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210702394.	NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter) GRCh37: Chr2:74594981 GRCh38: Chr2:74367854	DCTN1	Q542, Q639, Q659, Q676, Q656, Q669, Q653*	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 210462495.	NM_004082.5(DCTN1):c.2992C>T (p.Leu998=) GRCh37: Chr2:74592679 GRCh38: Chr2:74365552	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 209575696.	NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr) GRCh37: Chr2:74596003 GRCh38: Chr2:74368876	DCTN1	I552T, I562T, I546T, I435T, I532T, I549T, I569T	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 209446997.	NM_004082.5(DCTN1):c.3197-16G>T GRCh37: Chr2:74590771 GRCh38: Chr2:74363644	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 209356198.	NM_000454.5(SOD1):c.416G>T (p.Gly139Val) GRCh37: Chr21:33040842 GRCh38: Chr21:31668529	SOD1	G139V	Amyotrophic lateral sclerosis type 1	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 209146799.	NM_004082.5(DCTN1):c.2991G>C (p.Arg997=) GRCh37: Chr2:74592680 GRCh38: Chr2:74365553	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 2089997100.	NM_004082.5(DCTN1):c.1841G>A (p.Arg614His) GRCh37: Chr2:74595868 GRCh38: Chr2:74368741	DCTN1	R480H, R594H, R597H, R577H, R591H, R607H, R614H	Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter

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