ClinVar for Gene (Select 1639) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3362707	NM_004082.5(DCTN1):c.3295G>T (p.Ala1099Ser)	DCTN1 (A1057S +7 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome	GUncertain significance
Select item 3362706	NM_004082.5(DCTN1):c.3295_3296delinsTT (p.Ala1099Phe)	DCTN1 (A1057F +7 more)	Indel (missense variant +1 more)	Perry syndrome	GUncertain significance
Select item 3361871	NM_004082.5(DCTN1):c.118C>T (p.His40Tyr)	DCTN1 (H23Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361246	NM_004082.5(DCTN1):c.2464C>T (p.Gln822Ter)	DCTN1 (Q688* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3357524	NM_004082.5(DCTN1):c.1560C>T (p.Tyr520=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3356679	NM_004082.5(DCTN1):c.1854+6G>C	DCTN1	Single nucleotide variant (intron variant)	DCTN1-related disorder	GLikely benign
Select item 3354700	NM_004082.5(DCTN1):c.3504A>G (p.Val1168=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3352766	NM_004082.5(DCTN1):c.2388G>A (p.Gln796=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3350585	NM_004082.5(DCTN1):c.3172A>G (p.Thr1058Ala)	DCTN1 (T1021A +6 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	GUncertain significance
Select item 3350338	NM_004082.5(DCTN1):c.1638G>A (p.Gln546=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3349559	NM_004082.5(DCTN1):c.1748G>A (p.Arg583Gln)	DCTN1 (R449Q +6 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	GUncertain significance
Select item 3347475	NM_004082.5(DCTN1):c.2420G>A (p.Gly807Glu)	DCTN1 (G673E +6 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	GUncertain significance
Select item 3345130	NM_004082.5(DCTN1):c.424G>T (p.Ala142Ser)	DCTN1 (A125S +3 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	GUncertain significance
Select item 3344341	NM_004082.5(DCTN1):c.3523A>T (p.Ser1175Cys)	DCTN1 (S1036C +7 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	GUncertain significance
Select item 3344258	NM_004082.5(DCTN1):c.3698G>A (p.Arg1233Lys)	DCTN1 (R1094K +7 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	GUncertain significance
Select item 3337018	NM_004082.5(DCTN1):c.1855G>A (p.Ala619Thr)	DCTN1 (A485T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337017	NM_004082.5(DCTN1):c.3125A>C (p.Lys1042Thr)	DCTN1 (K1005T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3271156	NM_004082.5(DCTN1):c.1856C>T (p.Ala619Val)	DCTN1 (A599V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239606	NM_004082.5(DCTN1):c.83G>A (p.Arg28Gln)	DCTN1 (R11Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Inborn genetic diseases	GLikely benign
Select item 3080647	NM_004082.5(DCTN1):c.316C>T (p.Pro106Ser)	DCTN1 (P106S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080644	NM_004082.5(DCTN1):c.1792C>T (p.Arg598Trp)	DCTN1 (R464W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068578	NM_004082.5(DCTN1):c.1585-16C>G	DCTN1	Single nucleotide variant (intron variant)	Perry syndrome	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3061494	NM_004082.5(DCTN1):c.1995C>T (p.Ala665=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3045277	NM_004082.5(DCTN1):c.810C>T (p.Ala270=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3044336	NM_004082.5(DCTN1):c.2115G>C (p.Leu705=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3040528	NM_004082.5(DCTN1):c.3111G>A (p.Leu1037=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	DCTN1-related disorder	GLikely benign
Select item 3030261	NM_004082.5(DCTN1):c.3530-5C>T	DCTN1	Single nucleotide variant (intron variant)	DCTN1-related disorder	GLikely benign
Select item 3027041	NM_004082.5(DCTN1):c.1455G>A (p.Leu485=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2954396	NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)	DCTN1 (P52R +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2953064	NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2953024	NM_004082.5(DCTN1):c.3571C>A (p.Gln1191Lys)	DCTN1 (Q1057K +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2952906	NM_004082.5(DCTN1):c.2711C>T (p.Ala904Val)	DCTN1 (A904V +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2952658	NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)	DCTN1 (M610V +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2952353	NM_004082.5(DCTN1):c.2795G>T (p.Arg932Leu)	DCTN1 (R895L +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2952306	NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)	DCTN1 (D607H +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2952165	NM_004082.5(DCTN1):c.1585-12C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2951960	NM_004082.5(DCTN1):c.1086G>T (p.Gln362His)	DCTN1 (Q325H +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2951919	NM_004082.5(DCTN1):c.2629-18T>C	DCTN1	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2951560	NM_004082.5(DCTN1):c.414+12A>C	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2951183	NM_004082.5(DCTN1):c.843+7C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2951027	NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)	DCTN1 (A537D +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2950897	NM_004082.5(DCTN1):c.714G>T (p.Arg238=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2950831	NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)	DCTN1 (H635D +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2950509	NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)	DCTN1 (L1188R +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2950313	NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)	DCTN1 (G25W +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2950291	NM_004082.5(DCTN1):c.433-9C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2950195	NM_004082.5(DCTN1):c.3610-5C>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2950192	NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)	DCTN1 (T165I +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2950174	NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2949979	NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)	DCTN1 (R136P +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2949978	NM_004082.5(DCTN1):c.316C>G (p.Pro106Ala)	DCTN1 (P106A +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2949947	NM_004082.5(DCTN1):c.537C>T (p.Ser179=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2949942	NM_004082.5(DCTN1):c.3211+9C>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2949906	NM_004082.5(DCTN1):c.1128-13C>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2949818	NM_004082.5(DCTN1):c.879T>C (p.Tyr293=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2949333	NM_004082.5(DCTN1):c.2462C>G (p.Pro821Arg)	DCTN1 (P687R +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2949100	NM_004082.5(DCTN1):c.528T>G (p.Gly176=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2949079	NM_004082.5(DCTN1):c.495C>T (p.Ser165=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2949051	NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)	DCTN1 (A432G +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GUncertain significance
Select item 2949022	NM_004082.5(DCTN1):c.34-1G>C	DCTN1	Single nucleotide variant (splice acceptor variant)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2949014	NM_004082.5(DCTN1):c.3157C>T (p.Pro1053Ser)	DCTN1 (P1030S +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2948711	NM_004082.5(DCTN1):c.3046A>G (p.Met1016Val)	DCTN1 (M1016V +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2948675	NM_004082.5(DCTN1):c.3211+14C>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2948487	NM_004082.5(DCTN1):c.2760+11A>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2948246	NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)	DCTN1 (S638C +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2947895	NM_004082.5(DCTN1):c.34-20T>C	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2947815	NM_004082.5(DCTN1):c.1340A>G (p.Asn447Ser)	DCTN1 (N410S +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2947611	NM_004082.5(DCTN1):c.332C>T (p.Ser111Phe)	DCTN1 (S111F +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2947530	NM_004082.5(DCTN1):c.1572C>T (p.Thr524=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2947337	NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)	DCTN1 (L131V +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2947079	NM_004082.5(DCTN1):c.2467-17T>C	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2946973	NM_004082.5(DCTN1):c.393G>A (p.Leu131=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
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 2946215	NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)	DCTN1 (T175M +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2946204	NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)	DCTN1 (P677L +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2945937	NM_004082.5(DCTN1):c.3029+5G>A	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2945676	NM_004082.5(DCTN1):c.280-14del	DCTN1	Deletion (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2945461	NM_004082.5(DCTN1):c.2367_2368del (p.Ser790fs)	DCTN1 (S770fs +6 more)	Deletion (frameshift variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2945087	NM_004082.5(DCTN1):c.3422G>A (p.Ser1141Asn)	DCTN1 (S1124N +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2944995	NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +2 more	GLikely benign
Select item 2944838	NM_004082.5(DCTN1):c.2185-17_2185-14del	DCTN1	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2944059	NM_004082.5(DCTN1):c.2677T>A (p.Cys893Ser)	DCTN1 (C759S +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2942905	NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)	DCTN1 (Q57R +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2942847	NM_004082.5(DCTN1):c.2738A>G (p.Asp913Gly)	DCTN1 (D896G +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2942721	NM_004082.5(DCTN1):c.2887-8T>A	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2942612	NM_004082.5(DCTN1):c.840A>G (p.Arg280=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2942610	NM_004082.5(DCTN1):c.1093G>T (p.Glu365Ter)	DCTN1 (E231* +6 more)	Single nucleotide variant (nonsense +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2942381	NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2942158	NM_004082.5(DCTN1):c.3420C>G (p.Gly1140=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2942123	NM_004082.5(DCTN1):c.1702-19C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2941330	NM_004082.5(DCTN1):c.2761C>G (p.Pro921Ala)	DCTN1 (P884A +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2941252	NM_004082.5(DCTN1):c.1127+14T>C	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2941246	NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2940967	NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2940961	NM_004082.5(DCTN1):c.2015+19C>A	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign

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