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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMB2
(I1793M)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+3 more
GUncertain significance
LAMB2
(R1367W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LAMB2
(L1258V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LAMB2
Single nucleotide variant
(splice donor variant)
LAMB2-related infantile-onset nephrotic syndrome
GPathogenic
LAMB2
Single nucleotide variant
(splice donor variant)
LAMB2-related infantile-onset nephrotic syndrome
GLikely pathogenic
LAMB2
(R246W)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
LAMB2
(E85K)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+2 more
GConflicting classifications of pathogenicity
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