"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8402	NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)	DCTN1 (T1249I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 445640	NM_004082.5(DCTN1):c.3699+16G>A	DCTN1	Single nucleotide variant (intron variant)	Perry syndrome +3 more	GConflicting classifications of pathogenicity
Select item 337070	NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
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 284990	NM_004082.5(DCTN1):c.3529+5G>A	DCTN1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 337072	NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 705947	NM_004082.5(DCTN1):c.3212-10G>A	DCTN1	Single nucleotide variant (intron variant)	DCTN1-related condition +4 more	GLikely benign
Select item 994029	NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp)	DCTN1 (R1012W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 468269	NM_004082.5(DCTN1):c.2952C>G (p.Ala984=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +4 more	GBenign/Likely benign
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 +5 more	GBenign/Likely benign
Select item 994146	NM_004082.5(DCTN1):c.2679C>T (p.Cys893=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 259235	NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1024404	NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys)	DCTN1 (R661C +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GUncertain significance
Select item 579780	NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln)	DCTN1 (R398Q +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +4 more	GUncertain significance
Select item 649404	NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu)	DCTN1 (V476L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 259231	NM_004082.5(DCTN1):c.1288-3C>T	DCTN1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7B +4 more	GBenign
Select item 447239	NM_004082.5(DCTN1):c.837G>A (p.Ala279=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 453052	NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)	DCTN1 (R188W +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +6 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)	Inborn genetic diseases +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 259240	NM_004082.5(DCTN1):c.558G>A (p.Pro186=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1331088	NM_004082.5(DCTN1):c.280-34_280-12dup	DCTN1	Duplication (intron variant)	Perry syndrome +3 more	GBenign/Likely benign
Select item 536182	NM_004082.5(DCTN1):c.42C>T (p.Ser14=)	DCTN1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GLikely benign

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Items: 24