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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMB2
(G339S)
Single nucleotide variant
(missense variant)
Diffuse mesangial sclerosis
+3 more
GUncertain significance
COL4A4
(G143V)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+2 more
GConflicting classifications of pathogenicity