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Links from MedGen

Items: 1 to 100 of 1118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOD1
(S60N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
(Q23P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1
(G148del)
Microsatellite
(inframe_deletion)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(N20I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
(D93V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
(D102N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1
(G130R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(D12Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
+1 more
GLikely benign
SOD1
(G94S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GPathogenic
SOD1
(R116H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GConflicting classifications of pathogenicity
SOD1
(G142A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
SOD1
Duplication
(splice donor variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
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
SOD1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
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
SOD1
(A96T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
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
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
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)
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
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
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
SOD1
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
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
SOD1
(C147R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1
(E134V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
(E134G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1
(L127S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1
(D126H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
(G115A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1
(C112Y)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1
(V98L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1
(L39Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(L9Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(K4E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
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
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