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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCE
(S63R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SGCE
(I46T)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
SGCE
Single nucleotide variant
(intron variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
SGCE
Duplication
(intron variant)
not provided
GBenign
SGCE
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGCE
Single nucleotide variant
(intron variant)
Myoclonic dystonia 11
GLikely benign
SGCE
Single nucleotide variant
(intron variant)
Myoclonic dystonia 11
GLikely benign
SGCE
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
SGCE
Single nucleotide variant
(intron variant)
Myoclonic dystonia 11
GUncertain significance
SGCE
Duplication
(splice donor variant)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(splice donor variant)
Myoclonic dystonia 11
GPathogenic
SGCE
Single nucleotide variant
(splice donor variant)
Myoclonic dystonia 11
+1 more
GPathogenic
SGCE
(V37M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SGCE
(T36I)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(L35P)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(T32A)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(T30S)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(A28V)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(A28S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SGCE
(S26N)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(R23L)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(R23C)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(G21R)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(R20Q)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(G19S)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
+1 more
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(W15*)
Single nucleotide variant
(nonsense +1 more)
Myoclonic dystonia 11
+1 more
GConflicting classifications of pathogenicity
SGCE
(A14V)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(C13*)
Insertion
(nonsense +1 more)
Myoclonic dystonia 11
GPathogenic
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(D11G)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(D11H)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(G10*)
Single nucleotide variant
(nonsense +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(E8D)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(E8Q)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(W7C)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(W7*)
Single nucleotide variant
(nonsense +1 more)
Myoclonic dystonia 11
+1 more
GConflicting classifications of pathogenicity
SGCE
(W7R)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(R5L)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(R5G)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(P4L)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 11
GLikely benign
SGCE
(Q2P)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
(Q2*)
Single nucleotide variant
(nonsense +1 more)
Myoclonic dystonia 11
GUncertain significance
SGCE
Microsatellite
Myoclonic dystonia 11
GLikely benign
SGCE
Single nucleotide variant
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
Myoclonic dystonia 11
GUncertain significance
SGCE
Single nucleotide variant
not provided
GBenign
SGCE
Deletion
not provided
GBenign
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Duplication
Myoclonic dystonia 11
GUncertain significance
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Deletion
Myoclonic dystonia 11
GPathogenic
SGCE
Duplication
Myoclonic dystonia 11
GUncertain significance
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