"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DCTN1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 572789	NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)	DCTN1 (M1052T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 955557	NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn)	DCTN1 (K1137N +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 897360	NM_004082.5(DCTN1):c.3345+13C>T	DCTN1	Single nucleotide variant (intron variant)	Perry syndrome +2 more	GBenign/Likely benign
Select item 1350995	NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly)	DCTN1 (S1087G +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
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 1562619	NM_004082.5(DCTN1):c.3029+19G>A	DCTN1	Single nucleotide variant (intron variant)	Perry syndrome +2 more	GLikely benign
Select item 468268	NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)	DCTN1 (I801M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1657271	NM_004082.5(DCTN1):c.2761-18C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign/Likely benign
Select item 848831	NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val)	DCTN1 (L762V +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 374509	NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr)	DCTN1 (A715T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Inborn genetic diseases +5 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)	DCTN1-related disorder +5 more	GUncertain significance
Select item 960768	NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser)	DCTN1 (P593S +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	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)	Inborn genetic diseases +5 more	GUncertain significance
Select item 703876	NM_004082.5(DCTN1):c.1470C>T (p.Asp490=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GLikely benign
Select item 574723	NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys)	DCTN1 (R117C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 282607	NM_004082.5(DCTN1):c.414+1G>A	DCTN1	Single nucleotide variant (intron variant +1 more)	DCTN1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 536175	NM_004082.5(DCTN1):c.279+8C>T	DCTN1	Single nucleotide variant (intron variant)	Perry syndrome +3 more	GBenign/Likely benign
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
Select item 1058262	NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser)	DCTN1 (G15S)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 259238	NM_004082.5(DCTN1):c.34-11G>T	DCTN1	Single nucleotide variant (intron variant)	Perry syndrome +4 more	GBenign/Likely benign

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Items: 21