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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L1CAM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
L1CAM
(Y1067* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
L1CAM
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
L1CAM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
L1CAM
(I1005T +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
L1CAM
(E955fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
L1CAM
(L958V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
L1CAM
(G950D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
L1CAM
(R886Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GBenign/Likely benign
L1CAM
(D770N +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
L1CAM
(V768I +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
+3 more
GBenign
L1CAM
Insertion
(intron variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
L1CAM
(L665V +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+5 more
GBenign/Likely benign
L1CAM
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
L1CAM
(T627M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
+2 more
GBenign
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
+4 more
GBenign/Likely benign
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
L1CAM
(V439A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
+4 more
GBenign
L1CAM
(A417T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
L1CAM
(S341R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
L1CAM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
L1CAM
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
L1CAM
Single nucleotide variant
(synonymous variant)
L1CAM-related condition
+2 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
L1CAM-related condition
+1 more
GLikely pathogenic
L1CAM
(R287H +1 more)
Single nucleotide variant
(missense variant)
L1CAM-related condition
+2 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
L1CAM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
L1CAM
(R129Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
L1CAM
(V86M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
+2 more
GBenign
L1CAM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
L1CAM
(P10S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
L1CAM
(V8E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
L1CAM
(V8fs)
Deletion
(frameshift variant)
not provided
GPathogenic
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