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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMB1
Single nucleotide variant
(splice donor variant)
Cobblestone lissencephaly without muscular or ocular involvement
GLikely pathogenic
LAMB1
(R152P)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
Single nucleotide variant
(intron variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(D1514N)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(G546D)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
+1 more
GUncertain significance
LAMB1
(R642Q)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(P509fs)
Deletion
(frameshift variant)
Cobblestone lissencephaly without muscular or ocular involvement
GPathogenic
LAMB1
Copy number loss
Cobblestone lissencephaly without muscular or ocular involvement
GLikely pathogenic
LAMB1
(V262G)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(C1430W)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(I78M)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(P37S)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(V357A)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(I1507F)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(P987L)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LAMB1
(G1667R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMB1
(S1272T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMB1
(P659fs)
Duplication
(frameshift variant)
Cobblestone lissencephaly without muscular or ocular involvement
GLikely pathogenic
LAMB1
(L1455fs)
Deletion
(frameshift variant)
Cobblestone lissencephaly without muscular or ocular involvement
GLikely pathogenic
LAMB1
(G565E)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
+1 more
GUncertain significance
LAMB1
(G1413R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LAMB1
(R397*)
Single nucleotide variant
(nonsense)
Cobblestone lissencephaly without muscular or ocular involvement
+1 more
GPathogenic
LAMB1
(A586fs)
Duplication
(frameshift variant)
Cobblestone lissencephaly without muscular or ocular involvement
GPathogenic
LAMB1
(N757T)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
+1 more
GUncertain significance
LAMB1
(V357I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMB1
(M1396I)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(R801K)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(Y698N)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
Single nucleotide variant
(intron variant)
Cobblestone lissencephaly without muscular or ocular involvement
+1 more
GConflicting classifications of pathogenicity
LAMB1
(T1141M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMB1
(G1426A)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
+1 more
GUncertain significance
LAMB1
(E151G)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
LAMB1
(R1550*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMB1
(I908T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMB1
(S1783G)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
+1 more
GUncertain significance
LAMB1
(E1395K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMB1
(I1521S)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GUncertain significance
DLD, LAMB1
Single nucleotide variant
(intron variant)
Maple syrup urine disease
+5 more
GBenign
LAMB1
(C481F)
Single nucleotide variant
(missense variant)
Cobblestone lissencephaly without muscular or ocular involvement
GPathogenic
LAMB1
(Q977fs)
Deletion
(frameshift variant)
Cobblestone lissencephaly without muscular or ocular involvement
GPathogenic
LAMB1
Single nucleotide variant
(splice donor variant)
Cobblestone lissencephaly without muscular or ocular involvement
GPathogenic
LAMB1
Indel
(nonsense)
Cobblestone lissencephaly without muscular or ocular involvement
GPathogenic
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