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Links from MedGen

Items: 1 to 100 of 919

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCTN1
(R856L +6 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
GUncertain significance
DCTN1
(A1148S +7 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
GUncertain significance
DCTN1
(L487R +6 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
GUncertain significance
DCTN1
Single nucleotide variant
(splice donor variant)
Neuronopathy, distal hereditary motor, type 7B
GPathogenic
DCTN1
Duplication
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Duplication
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(I77V +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(R387H +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(S564F +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(splice donor variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GBenign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(T1044M +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(D338N +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(T525I +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(L316S +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(A1175G +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GBenign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(C471Y +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(A332V +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(A24S +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(K1025R +6 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Perry syndrome
+2 more
GLikely benign
DCTN1
(T755A +6 more)
Single nucleotide variant
(missense variant +1 more)
Perry syndrome
+2 more
GUncertain significance
DCTN1
(R761C +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(P683L +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(R358Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(E839K +6 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(D659N +6 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Perry syndrome
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(R411H +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GConflicting classifications of pathogenicity
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(T37I +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(I1254T +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(I1025F +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(L842P +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(P576S +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Duplication
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(V704M +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(T684A +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(Q542* +6 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(I552T +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(R480H +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Perry syndrome
+2 more
GLikely benign
DCTN1
(L460M +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GBenign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(E327K +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(D1197N +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(R748Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(T11S +4 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(R11W)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(D311H +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(K519R +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
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