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Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCC
(Q851*)
Single nucleotide variant
(nonsense)
Mirror movements 1
GLikely pathogenic
DCC
(I760fs)
Deletion
(frameshift variant)
Mirror movements 1
GPathogenic
DCC, MIR4528
Copy number loss
Mirror movements 1
GUncertain significance
DCC
(Q1260*)
Single nucleotide variant
(nonsense)
Mirror movements 1
GLikely pathogenic
DCC
(L385*)
Single nucleotide variant
(nonsense)
Mirror movements 1
GPathogenic
DCC
(Y768*)
Single nucleotide variant
(nonsense)
Mirror movements 1
GLikely pathogenic
DCC
(K419fs)
Deletion
(frameshift variant)
Mirror movements 1
GLikely pathogenic
DCC
(I742del)
Microsatellite
(inframe_deletion)
Mirror movements 1
GUncertain significance
DCC
(N678fs)
Deletion
(frameshift variant)
Mirror movements 1
GLikely pathogenic
DCC
(R756*)
Single nucleotide variant
(nonsense)
Mirror movements 1
GPathogenic
DCC
(N925fs)
Duplication
(frameshift variant)
Mirror movements 1
GPathogenic
DCC
Single nucleotide variant
(intron variant)
Mirror movements 1
+2 more
GBenign
DCC
Single nucleotide variant
(synonymous variant)
Gaze palsy, familial horizontal, with progressive scoliosis, 2
+2 more
GBenign
DCC
Single nucleotide variant
(intron variant)
Mirror movements 1
+1 more
GBenign
DCC
Single nucleotide variant
(synonymous variant)
DCC-related disorder
+2 more
GBenign
DCC
(F23L)
Single nucleotide variant
(missense variant)
Mirror movements 1
+1 more
GBenign
DCC
(T875M)
Single nucleotide variant
(missense variant)
Mirror movements 1
GUncertain significance
DCC
(R773S)
Indel
(missense variant)
Mirror movements 1
GUncertain significance
DCC
(R1025*)
Single nucleotide variant
(nonsense)
Mirror movements 1
GPathogenic
DCC
(R201G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
DCC
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
DCC
Single nucleotide variant
(synonymous variant)
Malignant tumor of esophagus
+4 more
GBenign/Likely benign
DCC
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
DCC
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
DCC
Duplication
Mirror movements 1
GUncertain significance
DCC
(G805E)
Single nucleotide variant
(missense variant)
Mirror movements 1
+1 more
GPathogenic
DCC
(V793G)
Single nucleotide variant
(missense variant)
Mirror movements 1
+1 more
GPathogenic
DCC
(T309fs)
Deletion
(frameshift variant)
Mirror movements 1
+1 more
GPathogenic
DCC
Deletion
Mirror movements 1
GPathogenic
DCC
(L1279fs)
Microsatellite
(frameshift variant)
Mirror movements 1
GPathogenic
DCC
(P960fs)
Microsatellite
(frameshift variant)
Mirror movements 1
Gnot provided
DCC
(R446fs)
Insertion
(frameshift variant)
Mirror movements 1
Gnot provided
DCC
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DCC
(R275*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DCC
(V191fs)
Duplication
(frameshift variant)
Mirror movements 1
GPathogenic
DCC
(S126*)
Single nucleotide variant
(nonsense)
Mirror movements 1
Gnot provided
DCC
(G803R)
Single nucleotide variant
(missense variant)
Mirror movements 1
GUncertain significance
DCC
(N702S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DCC
(R667H)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
DCC
(G470D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
DCC
(N176S)
Single nucleotide variant
(missense variant)
Mirror movements 1
Gnot provided
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