ClinVar for MedGen (Select 357007) - 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 24143994.	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 22026135.	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 22016896.	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 22000557.	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 21993998.	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 21978269.	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 219695710.	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 219644211.	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 219621612.	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 219412713.	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 219411914.	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 219352715.	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 219266516.	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 219215017.	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 218493318.	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 218441119.	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 217997120.	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 217878421.	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 217876522.	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 217508023.	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 217387524.	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 217312025.	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 217256726.	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 217087127.	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 216817628.	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 216626529.	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 216441430.	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 216396731.	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 216358732.	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 216219333.	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 216216534.	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 216106235.	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 215615736.	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 215572437.	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 215572238.	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 215490239.	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 215248240.	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 215147741.	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 215077042.	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 215045743.	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 215017444.	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 214995645.	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 214962646.	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 214806347.	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 214768048.	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 214737649.	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 214511950.	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 214500351.	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 214185352.	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 214144553.	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 214127954.	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 214104955.	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 214061156.	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 213950857.	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 213880758.	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 213720759.	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 213390160.	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 212888861.	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 212883062.	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 212711963.	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 212589864.	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 212317665.	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 212129366.	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 211641467.	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 211555368.	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 211315269.	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 211180970.	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 211101471.	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 211016072.	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 210958073.	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 210907974.	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 210702375.	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 210462476.	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 209575677.	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 209446978.	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 209146779.	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 208999780.	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
Select item 208927481.	NM_004082.5(DCTN1):c.2496A>G (p.Lys832=) GRCh37: Chr2:74593718 GRCh38: Chr2:74366591	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 208432482.	NM_004082.5(DCTN1):c.1447C>A (p.Leu483Met) GRCh37: Chr2:74596564 GRCh38: Chr2:74369437	DCTN1	L460M, L463M, L476M, L349M, L466M, L446M, L483M	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208180583.	NM_004082.5(DCTN1):c.1585-16C>T GRCh37: Chr2:74596357 GRCh38: Chr2:74369230	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 208129484.	NM_004082.5(DCTN1):c.2317-20A>G GRCh37: Chr2:74594079 GRCh38: Chr2:74366952	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 208084985.	NM_004082.5(DCTN1):c.3700-6C>A GRCh37: Chr2:74588769 GRCh38: Chr2:74361642	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 207959186.	NM_004082.5(DCTN1):c.1000G>A (p.Glu334Lys) GRCh37: Chr2:74597796 GRCh38: Chr2:74370669	DCTN1	E327K, E200K, E297K, E314K, E334K, E311K, E317K	Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 207731687.	NM_004082.5(DCTN1):c.3045A>G (p.Thr1015=) GRCh37: Chr2:74592353 GRCh38: Chr2:74365226	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 207588088.	NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn) GRCh37: Chr2:74589214 GRCh38: Chr2:74362087	DCTN1	D1197N, D1205N, D1215N, D1083N, D1088N, D1180N, D1199N, D1222N	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Nov 4, 2022)	criteria provided, single submitter
Select item 207236389.	NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln) GRCh37: Chr2:74594022 GRCh38: Chr2:74366895	DCTN1	R748Q, R762Q, R768Q, R785Q, R651Q, R765Q, R778Q	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 206714090.	NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser) GRCh37: Chr2:74600074 GRCh38: Chr2:74372947	DCTN1	T11S, T145S, T122S, T128S, T138S	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 206473891.	NM_004082.5(DCTN1):c.31C>T (p.Arg11Trp) GRCh37: Chr2:74607134 GRCh38: Chr2:74380007	DCTN1	R11W	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 206345492.	NM_004082.5(DCTN1):c.3345+17G>A GRCh37: Chr2:74590404 GRCh38: Chr2:74363277	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 206231093.	NM_004082.5(DCTN1):c.1333G>C (p.Asp445His) GRCh37: Chr2:74597151 GRCh38: Chr2:74370024	DCTN1	D311H, D408H, D422H, D438H, D425H, D428H, D445H	Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 206145794.	NM_004082.5(DCTN1):c.2769G>A (p.Pro923=) GRCh37: Chr2:74593137 GRCh38: Chr2:74366010	DCTN1		Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 206054795.	NM_004082.5(DCTN1):c.3609+20C>T GRCh37: Chr2:74589757 GRCh38: Chr2:74362630	DCTN1		Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 205880596.	NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg) GRCh37: Chr2:74596259 GRCh38: Chr2:74369132	DCTN1	K519R, K422R, K533R, K556R, K536R, K539R, K549R	Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 205838497.	NM_004082.5(DCTN1):c.843+14T>G GRCh37: Chr2:74598092 GRCh38: Chr2:74370965	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 205765198.	NM_004082.5(DCTN1):c.3609+17dup GRCh37: Chr2:74589759-74589760 GRCh38: Chr2:74362632-74362633	DCTN1		Perry syndrome, Neuronopathy, distal hereditary motor, type 7B, Amyotrophic lateral sclerosis type 1	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 205759299.	NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val) GRCh37: Chr2:74593618 GRCh38: Chr2:74366491	DCTN1	L732V, L843V, L846V, L859V, L829V, L849V, L866V	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 2055094100.	NM_004082.5(DCTN1):c.3700-3C>G GRCh37: Chr2:74588766 GRCh38: Chr2:74361639	DCTN1		Perry syndrome, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter

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