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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L1CAM
(W1073* +1 more)
Single nucleotide variant
(nonsense)
MASA syndrome
+1 more
GLikely pathogenic
L1CAM
(G945fs +1 more)
Deletion
(frameshift variant)
MASA syndrome
+1 more
GLikely pathogenic
L1CAM
(P807A +1 more)
Single nucleotide variant
(missense variant)
X-linked hydrocephalus syndrome
+2 more
GUncertain significance
L1CAM
(P1243H +2 more)
Single nucleotide variant
(missense variant)
MASA syndrome
GUncertain significance
L1CAM
(I861fs +1 more)
Microsatellite
(frameshift variant)
MASA syndrome
GLikely pathogenic
L1CAM
(W1073* +1 more)
Single nucleotide variant
(nonsense)
MASA syndrome
GPathogenic
L1CAM
Single nucleotide variant
(intron variant +1 more)
MASA syndrome
GUncertain significance
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
L1CAM
(R124W +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
L1CAM
(H862Y +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
GUncertain significance
L1CAM
(R362K +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
+1 more
GUncertain significance
L1CAM
(R212G +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
GLikely pathogenic
L1CAM
(G1188R +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
L1CAM
(L11fs)
Microsatellite
(frameshift variant)
MASA syndrome
GLikely pathogenic
L1CAM
(N403D +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
GLikely pathogenic
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
(Q1218H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
L1CAM
(R558* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+2 more
GPathogenic
L1CAM
(T38M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
L1CAM
(R886Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GBenign/Likely benign
L1CAM
(P240L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
L1CAM
(G370R +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GPathogenic
L1CAM
(I179S +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
GPathogenic
L1CAM
(S1194L +2 more)
Single nucleotide variant
(missense variant)
Severe hydrocephalus
+4 more
GPathogenic/Likely pathogenic
L1CAM
(E1159fs +1 more)
Deletion
(frameshift variant)
MASA syndrome
GPathogenic
L1CAM
(D598N +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
GPathogenic
L1CAM
(H210Q +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
GPathogenic
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