U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMB2
(Q1798fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LAMB2
(C1797F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMB2
(P1435L)
Single nucleotide variant
(missense variant)
LAMB2-related disorder
+3 more
GConflicting classifications of pathogenicity
LAMB2
(R1429*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LAMB2
(G1225D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LAMB2
(Q1209*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LAMB2
(R1199*)
Single nucleotide variant
(nonsense)
Pierson syndrome
+3 more
GPathogenic
LAMB2
(N1070fs)
Duplication
(frameshift variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
LAMB2
(I909T)
Single nucleotide variant
(missense variant)
Pierson syndrome
+2 more
GUncertain significance
LAMB2, LOC129936738
(C852fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
LAMB2
(R550*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
LAMB2
(R464C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMB2
(Y363H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMB2
Microsatellite
LAMB2-related infantile-onset nephrotic syndrome
+2 more
GPathogenic
LAMB2
(A122P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination