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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L1CAM
(G1204fs +2 more)
Deletion
(frameshift variant)
L1 syndrome
GPathogenic
L1CAM
(M1163fs +1 more)
Duplication
(frameshift variant)
L1 syndrome
GLikely pathogenic
L1CAM
Single nucleotide variant
(splice acceptor variant)
L1 syndrome
GLikely pathogenic
L1CAM
Single nucleotide variant
(splice acceptor variant)
L1 syndrome
GLikely pathogenic
L1CAM
(Q752* +1 more)
Single nucleotide variant
(nonsense)
L1 syndrome
GLikely pathogenic
L1CAM
(A901fs +1 more)
Deletion
(frameshift variant)
L1 syndrome
GLikely pathogenic
L1CAM
(Q1076* +1 more)
Single nucleotide variant
(nonsense)
L1 syndrome
GLikely pathogenic
L1CAM
(E304K +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GPathogenic/Likely pathogenic
L1CAM
(S245fs +1 more)
Deletion
(frameshift variant)
L1 syndrome
GPathogenic
L1CAM
Single nucleotide variant
(splice donor variant)
L1 syndrome
GPathogenic
L1CAM
Single nucleotide variant
(splice donor variant)
L1 syndrome
+2 more
GPathogenic/Likely pathogenic
L1CAM
(R473C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
L1CAM
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
L1CAM
Single nucleotide variant
(intron variant)
L1 syndrome
+2 more
GPathogenic
L1CAM
(Q794* +1 more)
Single nucleotide variant
(nonsense)
L1 syndrome
+1 more
GPathogenic/Likely pathogenic
L1CAM
(R760* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
L1CAM
(R184Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GPathogenic
L1CAM
(G452R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
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