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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L1CAM
(Y847fs +1 more)
Deletion
(frameshift variant)
X-linked hydrocephalus syndrome
GLikely pathogenic
L1CAM
Single nucleotide variant
(intron variant)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
(P795H +1 more)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
GLikely pathogenic
L1CAM
Duplication
(inframe_insertion)
X-linked hydrocephalus syndrome
GUncertain significance
L1CAM
(N787K +1 more)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
GLikely pathogenic
L1CAM
(Q517fs +1 more)
Deletion
(frameshift variant)
X-linked hydrocephalus syndrome
GLikely pathogenic
L1CAM
(Q761* +1 more)
Single nucleotide variant
(nonsense)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
Single nucleotide variant
(splice donor variant)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
(A834D +1 more)
Indel
(missense variant)
not provided
+3 more
GUncertain significance
L1CAM
(E1035K +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
LOC130059847, TUBB3
(Q11H)
Single nucleotide variant
(missense variant +1 more)
X-linked hydrocephalus syndrome
GUncertain significance
ATN1
(Q809E)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
GUncertain significance
L1CAM
(R124W +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
L1CAM
(G1188R +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
L1CAM
(V42fs +1 more)
Deletion
(frameshift variant)
X-linked hydrocephalus syndrome
GLikely pathogenic
L1CAM
(S243Y +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
L1CAM
Single nucleotide variant
(splice acceptor variant)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM, L1CAM-AS1
Insertion
(non-coding transcript variant +1 more)
X-linked hydrocephalus syndrome
GLikely benign
L1CAM, L1CAM-AS1
Deletion
(non-coding transcript variant +1 more)
X-linked hydrocephalus syndrome
GBenign
L1CAM, L1CAM-AS1
Insertion
(non-coding transcript variant +1 more)
X-linked hydrocephalus syndrome
GBenign
L1CAM, L1CAM-AS1
Duplication
(non-coding transcript variant +1 more)
X-linked hydrocephalus syndrome
GBenign
L1CAM
(M1I)
Single nucleotide variant
(missense variant +1 more)
X-linked hydrocephalus syndrome
GLikely pathogenic
L1CAM
(A809fs +1 more)
Duplication
(frameshift variant)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
(D202N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
L1CAM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
L1CAM
(P524S +1 more)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
GUncertain significance
L1CAM
(T38M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
L1CAM
(M235T +1 more)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
+1 more
GConflicting classifications of pathogenicity
L1CAM
(Q470* +1 more)
Single nucleotide variant
(nonsense)
X-linked hydrocephalus syndrome
+1 more
GPathogenic
L1CAM
(C539G +1 more)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
GLikely pathogenic
L1CAM
(R485* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+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)
L1 syndrome
+4 more
GPathogenic
L1CAM
Single nucleotide variant
(synonymous variant)
L1CAM-related condition
+1 more
GLikely pathogenic
L1CAM
(R886Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GBenign/Likely benign
L1CAM
Single nucleotide variant
(splice acceptor variant)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
(P240L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
L1CAM
Single nucleotide variant
(intron variant)
Spastic paraplegia
GUncertain significance
L1CAM
(V752M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
L1CAM
(G803fs +1 more)
Deletion
(frameshift variant)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
(G370R +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GPathogenic
L1CAM
(S1194L +2 more)
Single nucleotide variant
(missense variant)
Severe hydrocephalus
+4 more
GPathogenic/Likely pathogenic
L1CAM
(R184Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
L1CAM
(G452R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
L1CAM
Duplication
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
(C264Y +1 more)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
GPathogenic
L1CAM
Single nucleotide variant
(intron variant)
X-linked hydrocephalus syndrome
GPathogenic
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