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Items: 1 to 100 of 1320

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
DCTN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+1 more
GUncertain significance
DCTN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Perry syndrome
+1 more
GBenign
DCTN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
DCTN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Perry syndrome
+1 more
GUncertain significance
DCTN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Perry syndrome
+1 more
GBenign
DCTN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Perry syndrome
+1 more
GLikely benign
DCTN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GBenign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(I1254T +7 more)
Single nucleotide variant
(missense 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
(R1233H +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GUncertain significance
DCTN1
(R1258C +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely pathogenic
DCTN1
(S1267R +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(Q1246E +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(H1131Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(Q1268R +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(E1260Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+3 more
GConflicting classifications of pathogenicity
DCTN1
(E1225K +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GBenign/Likely benign
DCTN1
(Q1127R +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(Q1127K +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
DCTN1
(V1238M +7 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)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GLikely benign
DCTN1
(R1127Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Perry syndrome
+2 more
GBenign/Likely benign
DCTN1
(R1122W +7 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
(H1126Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(R1217Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Perry syndrome
+2 more
GUncertain significance
DCTN1
(A1229S +7 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
+3 more
GConflicting classifications of pathogenicity
DCTN1
(A1114V +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
DCTN1
(C1113Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(C1113R +7 more)
Single nucleotide variant
(missense variant +1 more)
Perry syndrome
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DCTN1
(S1112L +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(S1226A +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(F1208L +7 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)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(T1249I +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+4 more
GBenign/Likely benign
DCTN1
(V1114M +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GUncertain significance
DCTN1
(K1222N +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(M1203V +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GConflicting classifications of pathogenicity
DCTN1
(Y1105C +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
DCTN1
(V1109A +7 more)
Single nucleotide variant
(missense 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
Single nucleotide variant
(synonymous variant +1 more)
Perry syndrome
+2 more
GLikely benign
DCTN1
(D1107N +7 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+3 more
GLikely benign
DCTN1
(D1106Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(Q1231E +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GConflicting classifications of pathogenicity
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GBenign
DCTN1
(E1212K +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(A1095V +7 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
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, type 7B
+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)
Neuronopathy, distal hereditary motor, type 7B
+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
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCTN1
Single nucleotide variant
(intron variant)
not provided
GBenign
DCTN1
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GBenign
DCTN1
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GBenign
DCTN1
Single nucleotide variant
(intron variant)
not provided
+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
GLikely benign
DCTN1
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(R1094K +7 more)
Single nucleotide variant
(missense variant +1 more)
DCTN1-related disorder
GUncertain significance
DCTN1
(L1225V +7 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
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(S1089L +7 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)
Neuronopathy, distal hereditary motor, type 7B
+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
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(P1081H +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GLikely benign
DCTN1
(T1176A +7 more)
Single nucleotide variant
(missense variant +1 more)
DCTN1-related disorder
+3 more
GUncertain significance
DCTN1
(A1175G +7 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
(P1076S +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(P1081A +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
DCTN1
(R1214H +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(Q1079del +7 more)
Deletion
(inframe_deletion +1 more)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GUncertain significance
DCTN1
(R1207C +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GUncertain significance
DCTN1
(T1187R +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
DCTN1
(T1071I +7 more)
Single nucleotide variant
(missense variant +1 more)
DCTN1-related disorder
Gnot provided
DCTN1
(K1166R +7 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(synonymous variant +1 more)
Neuronopathy, distal hereditary motor, type 7B
+3 more
GConflicting classifications of pathogenicity
DCTN1
(E1188D +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GUncertain significance
DCTN1
Deletion
(splice acceptor variant)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
(D1065G +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 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)
Neuronopathy, distal hereditary motor, type 7B
+2 more
GLikely benign
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