"GeneDx"[submitter] AND "DCTN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 569319	NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys)	DCTN1 (E1225K +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GBenign/Likely benign
Select item 8402	NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)	DCTN1 (T1249I +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GBenign/Likely benign
Select item 1201436	NM_004082.5(DCTN1):c.3700-47C>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271608	NM_004082.5(DCTN1):c.3699+160T>C	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315865	NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His)	DCTN1 (P1081H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 844403	NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys)	DCTN1 (R1207C +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 259239	NM_004082.5(DCTN1):c.3610-20C>G	DCTN1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1280204	NM_004082.5(DCTN1):c.3610-62G>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267838	NM_004082.5(DCTN1):c.3610-65G>A	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257061	NM_004082.5(DCTN1):c.3610-92C>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291431	NM_004082.5(DCTN1):c.3609+244C>A	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 661256	NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu)	DCTN1 (S1157L +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 1293351	NM_004082.5(DCTN1):c.3530-41C>A	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252268	NM_004082.5(DCTN1):c.3530-128T>C	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284990	NM_004082.5(DCTN1):c.3529+5G>A	DCTN1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7B +5 more	GBenign/Likely benign
Select item 2443464	NM_004082.5(DCTN1):c.3293C>T (p.Ser1098Phe)	DCTN1 (S1056F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1212325	NM_004082.5(DCTN1):c.3197-21C>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 337078	NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)	DCTN1 (R1049Q +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +5 more	GBenign/Likely benign
Select item 3364963	NM_004082.5(DCTN1):c.3140G>T (p.Gly1047Val)	DCTN1 (G1010V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 424552	NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)	DCTN1 (L1004V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 582031	NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala)	DCTN1 (T862A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1399869	NM_004082.5(DCTN1):c.2969G>A (p.Arg990His)	DCTN1 (R973H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1496799	NM_004082.5(DCTN1):c.2954A>G (p.Lys985Arg)	DCTN1 (K948R +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 1417602	NM_004082.5(DCTN1):c.2932AAG[1] (p.Lys979del)	DCTN1 (K942del +6 more)	Microsatellite (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 2939543	NM_004082.5(DCTN1):c.2887G>C (p.Gly963Arg)	DCTN1 (G926R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1249281	NM_004082.5(DCTN1):c.2886+83A>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1796710	NM_004082.5(DCTN1):c.2840A>G (p.Asp947Gly)	DCTN1 (D813G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 468268	NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)	DCTN1 (I801M +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +4 more	GBenign/Likely benign
Select item 2430794	NM_004082.5(DCTN1):c.2785G>A (p.Ala929Thr)	DCTN1 (A795T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451462	NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp)	DCTN1 (N760D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2504828	NM_004082.5(DCTN1):c.2653C>A (p.Pro885Thr)	DCTN1 (P751T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 422499	NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys)	DCTN1 (S749C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 755203	NM_004082.5(DCTN1):c.2511C>T (p.Val837=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 259235	NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 649696	NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu)	DCTN1 (D802E +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 8404	NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	DCTN1 (R785W +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GConflicting classifications of pathogenicity
Select item 873284	NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu)	DCTN1 (D711E +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GUncertain significance
Select item 259234	NM_004082.5(DCTN1):c.2016-23C>T	DCTN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 567916	NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)	DCTN1 (T666M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2047791	NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)	DCTN1 (R505W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1183871	NM_004082.5(DCTN1):c.1855-143C>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194043	NM_004082.5(DCTN1):c.1855-225C>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195862	NM_004082.5(DCTN1):c.1855-233C>A	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260994	NM_004082.5(DCTN1):c.1854+139C>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700520	NM_004082.5(DCTN1):c.1854+52A>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 960768	NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser)	DCTN1 (P593S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 536159	NM_004082.5(DCTN1):c.1752C>A (p.His584Gln)	DCTN1 (H450Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1806733	NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)	DCTN1 (L439F +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 1320819	NM_004082.5(DCTN1):c.1701+82G>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268125	NM_004082.5(DCTN1):c.1701+56dup	DCTN1	Duplication (intron variant)	not provided	GBenign
Select item 259233	NM_004082.5(DCTN1):c.1605A>G (p.Thr535=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 1318762	NM_004082.5(DCTN1):c.1523A>G (p.Glu508Gly)	DCTN1 (E374G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 843850	NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)	DCTN1 (R482C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 259232	NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)	DCTN1 (R361Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3366204	NM_004082.5(DCTN1):c.1457G>T (p.Arg486Leu)	DCTN1 (R352L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1037540	NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp)	DCTN1 (R352W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1292789	NM_004082.5(DCTN1):c.1393-22A>C	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255210	NM_004082.5(DCTN1):c.1393-35C>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191584	NM_004082.5(DCTN1):c.1392+185G>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212452	NM_004082.5(DCTN1):c.1392+129_1392+131dup	DCTN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1196584	NM_004082.5(DCTN1):c.1392+129_1392+130dup	DCTN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1238858	NM_004082.5(DCTN1):c.1392+148del	DCTN1	Deletion (intron variant)	not provided	GBenign
Select item 259231	NM_004082.5(DCTN1):c.1288-3C>T	DCTN1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 637069	NM_004082.5(DCTN1):c.1270G>C (p.Asp424His)	DCTN1 (D387H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1439159	NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg)	DCTN1 (Q390R +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GUncertain significance
Select item 1260591	NM_004082.5(DCTN1):c.1128-55C>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703960	NM_004082.5(DCTN1):c.1061C>G (p.Ala354Gly)	DCTN1 (A220G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450791	NM_004082.5(DCTN1):c.1060G>T (p.Ala354Ser)	DCTN1 (A220S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 259241	NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)	DCTN1 (L153M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign
Select item 1229923	NM_004082.5(DCTN1):c.844-32G>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 393157	NM_004082.5(DCTN1):c.824G>A (p.Arg275His)	DCTN1 (R141H +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GUncertain significance
Select item 3365286	NM_004082.5(DCTN1):c.757A>G (p.Ile253Val)	DCTN1 (I119V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 453052	NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)	DCTN1 (R188W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 585768	NM_004082.5(DCTN1):c.627G>T (p.Pro209=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GBenign/Likely benign
Select item 337096	NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)	DCTN1 (I159V +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1706318	NM_004082.5(DCTN1):c.575C>T (p.Ala192Val)	DCTN1 (A155V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391470	NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu)	DCTN1 (P149L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 424550	NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu)	DCTN1 (S137L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1293640	NM_004082.5(DCTN1):c.454-127T>C	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226735	NM_004082.5(DCTN1):c.454-147_454-145del	DCTN1	Microsatellite (intron variant)	not provided	GBenign
Select item 468276	NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala)	DCTN1 (T13A +4 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GUncertain significance
Select item 1291318	NM_004082.5(DCTN1):c.433-226A>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278814	NM_004082.5(DCTN1):c.433-259G>A	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1381056	NM_004082.5(DCTN1):c.432+1G>T	DCTN1	Single nucleotide variant (intron variant +1 more)	Perry syndrome +3 more	GConflicting classifications of pathogenicity
Select item 536163	NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter)	DCTN1 (R9* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GUncertain significance
Select item 1292725	NM_004082.5(DCTN1):c.415-142_415-140del	DCTN1	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1287051	NM_004082.5(DCTN1):c.415-675A>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2571780	NM_004082.5(DCTN1):c.394-12C>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1198709	NM_004082.5(DCTN1):c.393+152T>C	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236844	NM_004082.5(DCTN1):c.393+103T>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228451	NM_004082.5(DCTN1):c.359-80G>A	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 702720	NM_004082.5(DCTN1):c.280-3C>T	DCTN1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 1292700	NM_004082.5(DCTN1):c.280-34A>T	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259237	NM_004082.5(DCTN1):c.280-42A>G	DCTN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 565763	NM_004082.5(DCTN1):c.279+1G>T	DCTN1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2575870	NM_004082.5(DCTN1):c.279G>C (p.Gln93His)	DCTN1 (Q76H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely pathogenic
Select item 2050317	NM_004082.5(DCTN1):c.269G>A (p.Arg90His)	DCTN1 (R90H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1063146	NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)	DCTN1 (G50V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1699560	NM_004082.5(DCTN1):c.156T>G (p.Phe52Leu)	DCTN1 (F35L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 808781	NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln)	DCTN1 (E34Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance

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