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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
(Q1257*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
COL4A5
(G1445E +1 more)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic