"Ambry Genetics"[submitter] AND "DCTN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 570076	NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His)	DCTN1 (R1233H +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 897272	NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)	DCTN1 (E1260Q +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GConflicting classifications of pathogenicity
Select item 337068	NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +3 more	GConflicting classifications of pathogenicity
Select item 960668	NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val)	DCTN1 (A1114V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
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 941160	NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met)	DCTN1 (V1114M +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 965216	NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)	DCTN1 (M1203V +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 774034	NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn)	DCTN1 (D1107N +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GLikely benign
Select item 536181	NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala)	DCTN1 (P1081A +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1489042	NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg)	DCTN1 (T1187R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1733271	NM_004082.5(DCTN1):c.3615G>T (p.Glu1205Asp)	DCTN1 (E1188D +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 999085	NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly)	DCTN1 (D1065G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1733149	NM_004082.5(DCTN1):c.3605T>A (p.Leu1202His)	DCTN1 (L1202H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 536167	NM_004082.5(DCTN1):c.3597C>T (p.Val1199=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 337070	NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +5 more	GBenign/Likely benign
Select item 2283096	NM_004082.5(DCTN1):c.3581C>T (p.Ser1194Phe)	DCTN1 (S1177F +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1732718	NM_004082.5(DCTN1):c.3562C>G (p.Gln1188Glu)	DCTN1 (Q1163E +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 536160	NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)	DCTN1 (M1052I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 572789	NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)	DCTN1 (M1052T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 936348	NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu)	DCTN1 (P1047L +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
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 1423635	NM_004082.5(DCTN1):c.3529+3A>G	DCTN1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 337072	NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +5 more	GBenign/Likely benign
Select item 1042180	NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His)	DCTN1 (R1034H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 468273	NM_004082.5(DCTN1):c.3501C>T (p.His1167=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 337073	NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +4 more	GBenign/Likely benign
Select item 1420717	NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met)	DCTN1 (T1124M +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GUncertain significance
Select item 337075	NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His)	DCTN1 (N1118H +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GConflicting classifications of pathogenicity
Select item 1731598	NM_004082.5(DCTN1):c.3457A>G (p.Ser1153Gly)	DCTN1 (S1136G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080648	NM_004082.5(DCTN1):c.3403T>C (p.Ser1135Pro)	DCTN1 (S1128P +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2932511	NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)	DCTN1 (L1117V +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 468272	NM_004082.5(DCTN1):c.3312C>T (p.Ile1104=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GLikely benign
Select item 2557011	NM_004082.5(DCTN1):c.3307C>T (p.His1103Tyr)	DCTN1 (H1061Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 8405	NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys)	DCTN1 (R1101K +7 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +4 more	GUncertain significance
Select item 1729888	NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)	DCTN1 (A965V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2275345	NM_004082.5(DCTN1):c.3274C>G (p.Leu1092Val)	DCTN1 (L1075V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 196128	NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser)	DCTN1 (P1084S +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GUncertain significance
Select item 468270	NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 656139	NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val)	DCTN1 (I1048V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 536149	NM_004082.5(DCTN1):c.3199G>T (p.Glu1067Ter)	DCTN1 (E1067* +4 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 655129	NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu)	DCTN1 (P1033L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 933697	NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu)	DCTN1 (P1034L +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +3 more	GUncertain significance
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 808773	NM_004082.5(DCTN1):c.3139G>A (p.Gly1047Arg)	DCTN1 (G1010R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 808774	NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr)	DCTN1 (I1025T +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GUncertain significance
Select item 536173	NM_004082.5(DCTN1):c.3132G>C (p.Thr1044=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 536153	NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)	DCTN1 (R1043C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2946723	NM_004082.5(DCTN1):c.3106C>T (p.Arg1036Cys)	DCTN1 (R1013C +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 536183	NM_004082.5(DCTN1):c.3069C>T (p.Ile1023=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1798929	NM_004082.5(DCTN1):c.3022A>G (p.Lys1008Glu)	DCTN1 (K1001E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 468269	NM_004082.5(DCTN1):c.2952C>G (p.Ala984=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 662814	NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met)	DCTN1 (I961M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
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 646084	NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys)	DCTN1 (E939K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 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 650325	NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp)	DCTN1 (R927W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1113107	NM_004082.5(DCTN1):c.2761-5C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 337079	NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)	DCTN1 (P784H +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GConflicting classifications of pathogenicity
Select item 571353	NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)	DCTN1 (R916Q +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1795487	NM_004082.5(DCTN1):c.2746C>T (p.Arg916Trp)	DCTN1 (R896W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 536165	NM_004082.5(DCTN1):c.2736T>C (p.Tyr912=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1794391	NM_004082.5(DCTN1):c.2657A>G (p.Tyr886Cys)	DCTN1 (Y849C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 468267	NM_004082.5(DCTN1):c.2649C>T (p.Ser883=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 568956	NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)	DCTN1 (Y878C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1793978	NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)	DCTN1 (E852K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 536179	NM_004082.5(DCTN1):c.2605C>T (p.Leu869=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1793696	NM_004082.5(DCTN1):c.2602G>A (p.Glu868Lys)	DCTN1 (E831K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2057592	NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)	DCTN1 (L732V +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2309193	NM_004082.5(DCTN1):c.2584C>T (p.Leu862Phe)	DCTN1 (L845F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 654179	NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val)	DCTN1 (L814V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1792880	NM_004082.5(DCTN1):c.2545G>T (p.Ala849Ser)	DCTN1 (A829S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 468266	NM_004082.5(DCTN1):c.2544T>C (p.Ala848=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GLikely benign
Select item 337080	NM_004082.5(DCTN1):c.2505G>A (p.Thr835=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +4 more	GBenign/Likely benign
Select item 2335684	NM_004082.5(DCTN1):c.2474A>G (p.Asp825Gly)	DCTN1 (D691G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 468265	NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)	DCTN1 (P677R +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GBenign/Likely benign
Select item 1015321	NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val)	DCTN1 (I667V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1790531	NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)	DCTN1 (F790L +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 493281	NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly)	DCTN1 (D652G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 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 719761	NM_004082.5(DCTN1):c.2318G>T (p.Gly773Val)	DCTN1 (G639V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 337081	NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)	DCTN1 (M626V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 337082	NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met)	DCTN1 (T753M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 536177	NM_004082.5(DCTN1):c.2238G>A (p.Leu746=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1787939	NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)	DCTN1 (D721N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 536168	NM_004082.5(DCTN1):c.2217T>G (p.Pro739=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 337083	NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg)	DCTN1 (Q738R +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +3 more	GBenign
Select item 194953	NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys)	DCTN1 (E737K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 536172	NM_004082.5(DCTN1):c.2205T>G (p.Leu735=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 337084	NM_004082.5(DCTN1):c.2136T>C (p.Asp712=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GBenign/Likely benign
Select item 1405631	NM_004082.5(DCTN1):c.2090G>A (p.Arg697His)	DCTN1 (R690H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1785222	NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)	DCTN1 (S687T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 637068	NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly)	DCTN1 (V648G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1784790	NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)	DCTN1 (S658T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 808776	NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe)	DCTN1 (L667F +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GUncertain significance
Select item 1004603	NM_004082.5(DCTN1):c.2015+3A>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1784326	NM_004082.5(DCTN1):c.2006G>T (p.Arg669Leu)	DCTN1 (R652L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 644992	NM_004082.5(DCTN1):c.2006G>A (p.Arg669His)	DCTN1 (R535H +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 337085	NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)	DCTN1 (H631Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

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