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Items: 1 to 100 of 245

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
ABL1, ASB6
+179 more
Copy number gain
See cases
GUncertain significance
ASB6, ASS1
+135 more
Copy number gain
See cases
GPathogenic
LOC130002885, LOC130002886
+789 more
Copy number gain
See cases
GPathogenic
PAEP, PIERCE1
+536 more
Copy number gain
See cases
GPathogenic
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Microsatellite
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Deletion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Deletion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Insertion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Deletion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
+1 more
GBenign/Likely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Dystonic disorder
+2 more
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Deletion
(frameshift variant +1 more)
TOR1A-related disorder
GUncertain significance
TOR1A
Single nucleotide variant
(synonymous variant)
TOR1A-related disorder
+1 more
GLikely benign
TOR1A
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
TOR1A
(D331N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TOR1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TOR1A
Deletion
(inframe_deletion)
Dystonia, early-onset atypical, with myoclonic features
GUncertain significance
TOR1A
(V322M)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(T321M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TOR1A
(T321fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
TOR1A
(K320E)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
GPathogenic
TOR1A
(G318S)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 5
GPathogenic
TOR1A
(K317*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TOR1A
(K317E)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(R312fs)
Microsatellite
(frameshift variant)
Dystonic disorder
GUncertain significance
TOR1A
(R312fs)
Microsatellite
(frameshift variant)
Early-onset generalized limb-onset dystonia
Gnot provided
TOR1A
(R312K)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
TOR1A
(K309N)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 5
+1 more
GLikely benign
TOR1A
(F306V)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(E303del)
Microsatellite
(inframe_deletion)
Early-onset generalized limb-onset dystonia
+5 more
GPathogenic/Likely pathogenic
TOR1A
Single nucleotide variant
(synonymous variant)
TOR1A-related disorder
GLikely benign
TOR1A
(I296V)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(E294*)
Single nucleotide variant
(nonsense)
Dystonic disorder
GUncertain significance
TOR1A
(I292T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
TOR1A
(E291D)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(G289D)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(R288L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOR1A
(R288Q)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GPathogenic/Likely pathogenic
TOR1A
(R288*)
Single nucleotide variant
(nonsense)
Arthrogryposis multiplex congenita 5
+2 more
GPathogenic/Likely pathogenic
TOR1A
(S287Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOR1A
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GLikely benign
TOR1A
(Q286*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TOR1A
(R282*)
Single nucleotide variant
(nonsense)
Arthrogryposis multiplex congenita 5
GLikely pathogenic
TOR1A
(M279T)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(K275E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TOR1A
(Y274N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TOR1A
Single nucleotide variant
(synonymous variant)
Dystonic disorder
GBenign
TOR1A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TOR1A
(I263L)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(R260W)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(L257V)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(S256T)
Single nucleotide variant
(missense variant)
Dystonic disorder
GUncertain significance
TOR1A
(H254D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TOR1A
Single nucleotide variant
(intron variant)
Dystonic disorder
GUncertain significance
TOR1A
Single nucleotide variant
(intron variant)
Dystonic disorder
GLikely benign
TOR1A
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
TOR1A
Deletion
(intron variant)
not provided
GLikely benign
TOR1A
Single nucleotide variant
(intron variant)
not provided
GBenign
TOR1A
Duplication
(intron variant)
not provided
GBenign
TOR1A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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