"Baylor Genetics"[submitter] AND "DCTN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 946666	NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr)	DCTN1 (D1106Y +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 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 2582322	NM_004082.5(DCTN1):c.1862T>G (p.Leu621Arg)	DCTN1 (L487R +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B	GUncertain significance
Select item 1028193	NM_004082.5(DCTN1):c.1600C>G (p.Leu534Val)	DCTN1 (L517V +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B	GUncertain significance
Select item 447238	NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)	DCTN1 (R148W +4 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1033635	NM_004082.5(DCTN1):c.317C>A (p.Pro106Gln)	DCTN1 (P106Q +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B	GUncertain significance

ClinVar