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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOR1A
(R282*)
Single nucleotide variant
(nonsense)
Arthrogryposis multiplex congenita 5
GLikely pathogenic
TOR1A
(G102R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TOR1A
(K309N)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 5
+1 more
GLikely benign
LOC130002772, TOR1A
(V7G)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 5
GUncertain significance
TOR1A
(L240S)
Single nucleotide variant
(missense variant)
Dystonic disorder
+2 more
GUncertain significance
TOR1A
(T321fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
TOR1A
(G318S)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 5
GPathogenic
TOR1A
(R288*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
TOR1A
(V129I)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
+1 more
GUncertain significance
TOR1A
(D216H)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
+4 more
GBenign
TOR1A
(E303del)
Microsatellite
(inframe_deletion)
Dystonic disorder
+5 more
GPathogenic/Likely pathogenic
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